#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
MKI67	4288	broad.mit.edu	37	10	129906236	129906236	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:129906236G>A	ENST00000368654.3	-	13	4243	c.3868C>T	c.(3868-3870)Cca>Tca	p.P1290S	MKI67_ENST00000368653.3_Missense_Mutation_p.P930S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1290	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCTGCTGATGGCATTAGATTC	0.488																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(3868-3870)Cca>Tca		marker of proliferation Ki-67							278.0	259.0	266.0					10																	129906236		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906236G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3868C>T	10.37:g.129906236G>A	ENSP00000357643:p.Pro1290Ser		Somatic				MKI67_ENST00000368653.3_Missense_Mutation_p.P930S	p.P1290S	NM_002417.4	NP_002408.3	WXS	Illumina GAIIx	Phase_I	P46013	KI67_HUMAN			13	4243	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1290			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.3868C>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.240325	0.22711	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02032	4.49;4.49	2.59	-0.756	0.11057	.	1.241230	0.06249	N	0.691759	T	0.03263	0.0095	L	0.44542	1.39	0.09310	N	1	B;B;P	0.52170	0.254;0.254;0.951	B;B;P	0.51615	0.089;0.089;0.675	T	0.38286	-0.9668	10	0.12103	T	0.63	.	1.8535	0.03174	0.1143:0.1818:0.2362:0.4677	.	1289;930;1290	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	S	1290;930;1289	ENSP00000357643:P1290S;ENSP00000357642:P930S	ENSP00000357642:P930S	P	-	1	0	MKI67	129796226	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.294000	0.19047	-0.159000	0.11021	-0.314000	0.08810	CCA		0.488	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		9	1184	0	0	0	1	0	9	1184				
SLC10A4	201780	broad.mit.edu	37	4	48490662	48490662	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:48490662T>C	ENST00000273861.4	+	3	1239	c.1020T>C	c.(1018-1020)aaT>aaC	p.N340N	ZAR1_ENST00000327939.4_5'Flank	NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	340						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						GTAGTCAGAATGTGCAGCTCT	0.468																																						ENST00000273861.4																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						c.(1018-1020)aaT>aaC		solute carrier family 10, member 4							140.0	135.0	136.0					4																	48490662		2203	4300	6503	SO:0001819	synonymous_variant	201780					integral to membrane	bile acid:sodium symporter activity	g.chr4:48490662T>C	BC012048	CCDS3482.1	4p12	2013-07-18	2013-07-18		ENSG00000145248	ENSG00000145248		"""Solute carriers"""	22980	protein-coding gene	gene with protein product							Standard	NM_152679		Approved	MGC29802	uc003gyc.2	Q96EP9	OTTHUMG00000102092	ENST00000273861.4:c.1020T>C	4.37:g.48490662T>C			Somatic					p.N340N	NM_152679.3	NP_689892.1	WXS	Illumina GAIIx	Phase_I	Q96EP9	NTCP4_HUMAN			3	1239	+			340					Q8WUZ2	Silent	SNP	ENST00000273861.4	37	c.1020T>C	CCDS3482.1																																																																																				0.468	SLC10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219926.3	NM_152679		4	193	0	0	0	1	0	4	193				
GPR64	10149	broad.mit.edu	37	X	19018058	19018058	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:19018058T>C	ENST00000379869.3	-	25	2414	c.2251A>G	c.(2251-2253)Acc>Gcc	p.T751A	GPR64_ENST00000360279.4_Missense_Mutation_p.T729A|GPR64_ENST00000379878.3_Missense_Mutation_p.T735A|GPR64_ENST00000357544.3_Missense_Mutation_p.T721A|GPR64_ENST00000340581.3_Missense_Mutation_p.T632A|GPR64_ENST00000356606.4_Missense_Mutation_p.T737A|GPR64_ENST00000379876.1_Missense_Mutation_p.T727A|GPR64_ENST00000379873.2_Missense_Mutation_p.T751A|GPR64_ENST00000354791.3_Missense_Mutation_p.T735A|GPR64_ENST00000357991.3_Missense_Mutation_p.T748A	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	751					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AGGATGATGGTCACAACCACA	0.453																																						ENST00000379878.3																			0				breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42						c.(2203-2205)Acc>Gcc		G protein-coupled receptor 64							161.0	138.0	145.0					X																	19018058		2203	4300	6503	SO:0001583	missense	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19018058T>C	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.2251A>G	X.37:g.19018058T>C	ENSP00000369198:p.Thr751Ala		Somatic				GPR64_ENST00000356606.4_Missense_Mutation_p.T737A|GPR64_ENST00000357991.3_Missense_Mutation_p.T748A|GPR64_ENST00000360279.4_Missense_Mutation_p.T729A|GPR64_ENST00000357544.3_Missense_Mutation_p.T721A|GPR64_ENST00000340581.3_Missense_Mutation_p.T632A|GPR64_ENST00000379869.3_Missense_Mutation_p.T751A|GPR64_ENST00000379873.2_Missense_Mutation_p.T751A|GPR64_ENST00000379876.1_Missense_Mutation_p.T727A|GPR64_ENST00000354791.3_Missense_Mutation_p.T735A	p.T735A	NM_001184833.1	NP_001171762.1	WXS	Illumina GAIIx	Phase_I	Q8IZP9	GPR64_HUMAN			24	2444	-	Hepatocellular(33;0.183)		751					B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	c.2203A>G	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	T	2.185	-0.386585	0.04966	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25	5.87	-1.81	0.07882	GPCR, family 2-like (1);	0.784141	0.11474	N	0.560435	T	0.09468	0.0233	N	0.00960	-1.095	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B	0.14012	0.009;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B	0.15052	0.012;0.001;0.003;0.001;0.001;0.002;0.003;0.003;0.003;0.002;0.006	T	0.33828	-0.9853	10	0.02654	T	1	.	8.6184	0.33847	0.3492:0.5402:0.0:0.1106	.	632;713;721;727;735;751;729;737;748;751;735	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	A	751;735;735;727;721;751;729;748;737;632	ENSP00000369202:T751A;ENSP00000369207:T735A;ENSP00000346845:T735A;ENSP00000369205:T727A;ENSP00000350152:T721A;ENSP00000369198:T751A;ENSP00000353421:T729A;ENSP00000350680:T748A;ENSP00000349015:T737A;ENSP00000344972:T632A	ENSP00000344972:T632A	T	-	1	0	GPR64	18927979	0.021000	0.18746	0.003000	0.11579	0.985000	0.73830	-0.033000	0.12246	-0.762000	0.04664	0.486000	0.48141	ACC		0.453	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			5	175	0	0	0	1	0	5	175				
CA14	23632	broad.mit.edu	37	1	150237049	150237049	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:150237049C>A	ENST00000369111.4	+	11	1974	c.1004C>A	c.(1003-1005)aCt>aAt	p.T335N	snoU13_ENST00000458929.1_RNA|APH1A_ENST00000461320.1_5'Flank	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	335					bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	CAAGCCACGACTGAGGCATAA	0.478																																						ENST00000369111.4																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18						c.(1003-1005)aCt>aAt		carbonic anhydrase XIV							94.0	75.0	82.0					1																	150237049		2203	4300	6503	SO:0001583	missense	23632					integral to membrane	carbonate dehydratase activity|metal ion binding	g.chr1:150237049C>A	AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"""Carbonic anhydrases"""	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.1004C>A	1.37:g.150237049C>A	ENSP00000358107:p.Thr335Asn		Somatic					p.T335N	NM_012113.1	NP_036245.1	WXS	Illumina GAIIx	Phase_I	Q9ULX7	CAH14_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		11	1974	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		335					Q5TB24|Q8NCF4	Missense_Mutation	SNP	ENST00000369111.4	37	c.1004C>A	CCDS947.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777413	0.49786	.	.	ENSG00000118298	ENST00000369111	T	0.67523	-0.27	3.48	3.48	0.39840	.	0.207931	0.39210	N	0.001437	T	0.30510	0.0767	N	0.19112	0.55	0.09310	N	0.999999	P	0.35155	0.487	B	0.34346	0.18	T	0.08953	-1.0697	10	0.34782	T	0.22	.	10.3447	0.43899	0.0:1.0:0.0:0.0	.	335	Q9ULX7	CAH14_HUMAN	N	335	ENSP00000358107:T335N	ENSP00000358107:T335N	T	+	2	0	CA14	148503673	0.005000	0.15991	0.036000	0.18154	0.714000	0.41099	1.120000	0.31271	1.757000	0.51966	0.655000	0.94253	ACT		0.478	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035064.2	NM_012113		39	169	1	0	4.90955e-16	1	6.34151e-16	39	169				
SLC9A9	285195	broad.mit.edu	37	3	143292951	143292951	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:143292951C>T	ENST00000316549.6	-	8	1187	c.979G>A	c.(979-981)Gcc>Acc	p.A327T		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	327					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GCAGCCTCGGCAGACAGGAAG	0.532																																						ENST00000316549.6																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						c.(979-981)Gcc>Acc		solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9							58.0	57.0	57.0					3																	143292951		2203	4300	6503	SO:0001583	missense	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143292951C>T	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.979G>A	3.37:g.143292951C>T	ENSP00000320246:p.Ala327Thr		Somatic					p.A327T	NM_173653.3	NP_775924.1	WXS	Illumina GAIIx	Phase_I	Q8IVB4	SL9A9_HUMAN			8	1187	-			327					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	c.979G>A	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600876	0.87055	.	.	ENSG00000181804	ENST00000316549;ENST00000450105	T	0.20598	2.06	5.39	4.51	0.55191	Cation/H+ exchanger (1);	0.176994	0.38605	N	0.001634	T	0.51346	0.1669	M	0.93241	3.395	0.80722	D	1	P	0.43938	0.822	P	0.53360	0.724	T	0.66069	-0.6015	10	0.87932	D	0	.	16.0856	0.81045	0.0:0.8656:0.1344:0.0	.	327	Q8IVB4	SL9A9_HUMAN	T	327;210	ENSP00000320246:A327T	ENSP00000320246:A327T	A	-	1	0	SLC9A9	144775641	1.000000	0.71417	0.965000	0.40720	0.810000	0.45777	7.299000	0.78831	1.253000	0.44018	-0.300000	0.09419	GCC		0.532	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		5	91	0	0	0	1	0	5	91				
MTG2	26164	broad.mit.edu	37	20	60773849	60773849	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:60773849C>T	ENST00000370823.3	+	5	646	c.628C>T	c.(628-630)Cag>Tag	p.Q210*	MTG2_ENST00000436421.2_Intron|MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000461411.1_3'UTR	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	210	Localized in the mitochondria.|Not localized in the mitochondria.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										TACCCCTGGACAGCCAGGACA	0.627																																						ENST00000370823.3																			0											c.(628-630)Cag>Tag		mitochondrial ribosome-associated GTPase 2							99.0	84.0	89.0					20																	60773849		2203	4300	6503	SO:0001587	stop_gained	26164							g.chr20:60773849C>T	AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"""GTP-binding protein 5 (putative)"", ""GTP binding protein 5 (putative)"""	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.628C>T	20.37:g.60773849C>T	ENSP00000359859:p.Gln210*		Somatic				MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000436421.2_Intron|MTG2_ENST00000461411.1_3'UTR	p.Q210*	NM_015666.3	NP_056481.1	WXS	Illumina GAIIx	Phase_I					5	646	+								A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Nonsense_Mutation	SNP	ENST00000370823.3	37	c.628C>T	CCDS13492.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539993	0.85917	.	.	ENSG00000101181	ENST00000370823;ENST00000448254	.	.	.	5.67	2.56	0.30785	.	0.413619	0.28754	N	0.014260	.	.	.	.	.	.	0.53688	D	0.999978	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-32.6996	18.2596	0.90030	0.0:0.4589:0.5411:0.0	.	.	.	.	X	210	.	ENSP00000359859:Q210X	Q	+	1	0	GTPBP5	60207244	0.741000	0.28217	0.688000	0.30117	0.893000	0.52053	0.690000	0.25451	0.281000	0.22233	0.561000	0.74099	CAG		0.627	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	NM_015666		5	58	0	0	0	1	0	5	58				
AGAP3	116988	broad.mit.edu	37	7	150839661	150839661	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:150839661C>T	ENST00000463381.1	+	14	1716	c.1220C>T	c.(1219-1221)gCc>gTc	p.A407V	AGAP3_ENST00000397238.2_Missense_Mutation_p.A738V	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	702	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						AATGCCCTCGCCAACAGCGTC	0.667																																						ENST00000397238.2																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(2212-2214)gCc>gTc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3							39.0	43.0	42.0					7																	150839661		2055	4214	6269	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150839661C>T	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1220C>T	7.37:g.150839661C>T	ENSP00000418016:p.Ala407Val		Somatic				AGAP3_ENST00000463381.1_Missense_Mutation_p.A407V	p.A738V	NM_031946.4	NP_114152.3	WXS	Illumina GAIIx	Phase_I	Q96P47	AGAP3_HUMAN			16	2213	+			702			Arf-GAP.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37	c.2213C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.7|28.7	4.943058|4.943058	0.92526|0.92526	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355|ENST00000461065	T;T|.	0.47528|.	0.84;0.84|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.119078|.	0.56097|.	D|.	0.000028|.	T|T	0.70692|0.70692	0.3253|0.3253	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	P;B;P;P|.	0.51351|.	0.944;0.374;0.843;0.856|.	D;B;P;P|.	0.66716|.	0.946;0.349;0.588;0.454|.	T|T	0.68198|0.68198	-0.5472|-0.5472	10|5	0.62326|.	D|.	0.03|.	.|.	17.7926|17.7926	0.88558|0.88558	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	702;237;738;407|.	Q96P47;E7ETI2;Q96P47-4;B3KNZ8|.	AGAP3_HUMAN;.;.;.|.	V|S	407;237;738;702|231	ENSP00000418016:A407V;ENSP00000380413:A738V|.	ENSP00000334157:A702V|.	A|P	+|+	2|1	0|0	AGAP3|AGAP3	150470594|150470594	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	7.678000|7.678000	0.84035|0.84035	2.445000|2.445000	0.82738|0.82738	0.561000|0.561000	0.74099|0.74099	GCC|CCA		0.667	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		17	37	0	0	0	1	0	17	37				
NADSYN1	55191	broad.mit.edu	37	11	71208625	71208625	+	Missense_Mutation	SNP	G	G	A	rs202246678		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:71208625G>A	ENST00000319023.2	+	19	2049	c.1861G>A	c.(1861-1863)Ggc>Agc	p.G621S	NADSYN1_ENST00000530055.1_Missense_Mutation_p.G250S|NADSYN1_ENST00000539574.1_Missense_Mutation_p.G361S	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	621	Ligase. {ECO:0000250}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	CAAACTCCTCGGCATGTGGAG	0.547													.|||	1	0.000199681	0.0	0.0	5008	,	,		20203	0.001		0.0	False		,,,				2504	0.0				Ovarian(79;763 1781 6490 50276)	ENST00000319023.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1861-1863)Ggc>Agc		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	G	SER/GLY	0,4400		0,0,2200	122.0	115.0	117.0		1861	-2.3	0.0	11		117	1,8587		0,1,4293	yes	missense	NADSYN1	NM_018161.4	56	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	benign	621/707	71208625	1,12987	2200	4294	6494	SO:0001583	missense	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71208625G>A	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.1861G>A	11.37:g.71208625G>A	ENSP00000326424:p.Gly621Ser		Somatic				NADSYN1_ENST00000539574.1_Missense_Mutation_p.G361S|NADSYN1_ENST00000530055.1_Missense_Mutation_p.G250S	p.G621S	NM_018161.4	NP_060631.2	WXS	Illumina GAIIx	Phase_I	Q6IA69	NADE_HUMAN			19	2049	+			621			Ligase (By similarity).		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	c.1861G>A	CCDS8201.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	11.84	1.757723	0.31137	0.0	1.16E-4	ENSG00000172890	ENST00000319023;ENST00000539574;ENST00000530055	T;T;T	0.28454	2.62;2.04;1.61	4.81	-2.32	0.06745	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.706620	0.13912	N	0.354169	T	0.05547	0.0146	N	0.00399	-1.545	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.32188	-0.9916	10	0.12766	T	0.61	-3.0417	2.4277	0.04463	0.2578:0.4408:0.173:0.1284	.	361;621	B3KUU4;Q6IA69	.;NADE_HUMAN	S	621;361;250	ENSP00000326424:G621S;ENSP00000443718:G361S;ENSP00000431820:G250S	ENSP00000326424:G621S	G	+	1	0	NADSYN1	70886273	0.268000	0.24133	0.000000	0.03702	0.168000	0.22595	0.665000	0.25083	-0.794000	0.04468	-0.469000	0.05056	GGC		0.547	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		8	569	0	0	0	1	0	8	569				
TMEM42	131616	broad.mit.edu	37	3	44906548	44906548	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:44906548T>C	ENST00000302392.4	+	3	412	c.356T>C	c.(355-357)gTg>gCg	p.V119A		NM_144638.1	NP_653239.1	Q69YG0	TMM42_HUMAN	transmembrane protein 42	119						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00839)|KIRC - Kidney renal clear cell carcinoma(197;0.0461)|Kidney(197;0.0576)		CTGGGCTATGTGCTGTATGGA	0.557																																						ENST00000302392.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8						c.(355-357)gTg>gCg		transmembrane protein 42							191.0	154.0	167.0					3																	44906548		2203	4300	6503	SO:0001583	missense	131616					integral to membrane		g.chr3:44906548T>C	AL834253	CCDS2722.1	3p21.31	2005-01-19			ENSG00000169964	ENSG00000169964			28444	protein-coding gene	gene with protein product						12477932	Standard	NM_144638		Approved	MGC29956	uc003cnz.3	Q69YG0	OTTHUMG00000133092	ENST00000302392.4:c.356T>C	3.37:g.44906548T>C	ENSP00000306564:p.Val119Ala		Somatic					p.V119A	NM_144638.1	NP_653239.1	WXS	Illumina GAIIx	Phase_I	Q69YG0	TMM42_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00839)|KIRC - Kidney renal clear cell carcinoma(197;0.0461)|Kidney(197;0.0576)	3	412	+			119					Q8WUQ6	Missense_Mutation	SNP	ENST00000302392.4	37	c.356T>C	CCDS2722.1	.	.	.	.	.	.	.	.	.	.	T	13.31	2.197973	0.38806	.	.	ENSG00000169964	ENST00000302392	T	0.09817	2.94	4.39	1.9	0.25705	.	0.902531	0.09268	N	0.825607	T	0.09512	0.0234	L	0.39245	1.2	0.26026	N	0.981801	B	0.02656	0.0	B	0.04013	0.001	T	0.35847	-0.9772	10	0.35671	T	0.21	-9.2682	6.8367	0.23941	0.0:0.1911:0.0:0.8089	.	119	Q69YG0	TMM42_HUMAN	A	119	ENSP00000306564:V119A	ENSP00000306564:V119A	V	+	2	0	TMEM42	44881552	0.971000	0.33674	0.986000	0.45419	0.996000	0.88848	0.924000	0.28777	0.205000	0.20568	0.459000	0.35465	GTG		0.557	TMEM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256750.2	NM_144638		6	476	0	0	0	1	0	6	476				
SETX	23064	broad.mit.edu	37	9	135158714	135158714	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:135158714T>C	ENST00000224140.5	-	19	6665	c.6483A>G	c.(6481-6483)ttA>ttG	p.L2161L	SETX_ENST00000372169.2_Silent_p.L2161L|SETX_ENST00000393220.1_Silent_p.L2161L	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2161					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACTCAAGTAGTAAACCACCAC	0.478																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(6481-6483)ttA>ttG		senataxin							206.0	159.0	175.0					9																	135158714		2203	4300	6503	SO:0001819	synonymous_variant	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135158714T>C	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.6483A>G	9.37:g.135158714T>C			Somatic				SETX_ENST00000393220.1_Silent_p.L2161L|SETX_ENST00000224140.5_Silent_p.L2161L	p.L2161L			WXS	Illumina GAIIx	Phase_I	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	19	6665	-		Myeloproliferative disorder(178;0.204)	2161					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	ENST00000224140.5	37	c.6483A>G	CCDS6947.1																																																																																				0.478	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		48	126	0	0	0	1	0	48	126				
SLC36A1	206358	broad.mit.edu	37	5	150859002	150859002	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:150859002G>T	ENST00000243389.3	+	10	1334	c.1111G>T	c.(1111-1113)Gag>Tag	p.E371*	SLC36A1_ENST00000521925.1_Nonsense_Mutation_p.E371*|RNA5SP197_ENST00000363357.1_RNA|SLC36A1_ENST00000520701.1_Nonsense_Mutation_p.E371*	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	371					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	CGAGCACTGTGAGTTAGTGGT	0.527																																					Melanoma(151;1534 1860 12947 32979 37872)	ENST00000243389.3																			0				endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25						c.(1111-1113)Gag>Tag		solute carrier family 36 (proton/amino acid symporter), member 1	Glycine(DB00145)|L-Alanine(DB00160)						155.0	132.0	140.0					5																	150859002		2203	4300	6503	SO:0001587	stop_gained	206358				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr5:150859002G>T	AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"""Solute carriers"""	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.1111G>T	5.37:g.150859002G>T	ENSP00000243389:p.Glu371*		Somatic				SLC36A1_ENST00000521925.1_Nonsense_Mutation_p.E371*|SLC36A1_ENST00000520701.1_Nonsense_Mutation_p.E371*	p.E371*	NM_078483.2	NP_510968.2	WXS	Illumina GAIIx	Phase_I	Q7Z2H8	S36A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	1334	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	371					C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Nonsense_Mutation	SNP	ENST00000243389.3	37	c.1111G>T	CCDS4316.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693988	0.88735	.	.	ENSG00000123643	ENST00000520701;ENST00000243389;ENST00000456739;ENST00000521925;ENST00000517628	.	.	.	5.77	3.0	0.34707	.	0.704560	0.15063	N	0.282659	.	.	.	.	.	.	0.53005	D	0.999968	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.9518	0.24550	0.206:0.1269:0.6671:0.0	.	.	.	.	X	371;371;371;371;130	.	ENSP00000243389:E371X	E	+	1	0	SLC36A1	150839195	0.725000	0.28048	0.000000	0.03702	0.523000	0.34469	0.997000	0.29731	0.350000	0.24002	0.561000	0.74099	GAG		0.527	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1	NM_078483		20	467	1	0	2.21704e-12	1	2.8143e-12	20	467				
GPR87	53836	broad.mit.edu	37	3	151012468	151012468	+	Missense_Mutation	SNP	A	A	T	rs200796001		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:151012468A>T	ENST00000260843.4	-	3	1030	c.566T>A	c.(565-567)aTc>aAc	p.I189N	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	189					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGTCATGGATATTGTCCTC	0.448																																						ENST00000260843.4																			0				endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19						c.(565-567)aTc>aAc		G protein-coupled receptor 87							121.0	117.0	118.0					3																	151012468		2203	4300	6503	SO:0001583	missense	53836					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151012468A>T	AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"""GPCR / Class A : Orphans"""	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.566T>A	3.37:g.151012468A>T	ENSP00000260843:p.Ile189Asn		Somatic				MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron	p.I189N	NM_023915.3	NP_076404.3	WXS	Illumina GAIIx	Phase_I	Q9BY21	GPR87_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	1030	-			189					Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	37	c.566T>A	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	A	9.794	1.178594	0.21787	.	.	ENSG00000138271	ENST00000260843	T	0.37411	1.2	5.45	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.471725	0.22672	N	0.057051	T	0.23133	0.0559	N	0.11341	0.13	0.09310	N	1	B	0.26041	0.14	B	0.35182	0.197	T	0.27400	-1.0075	10	0.24483	T	0.36	-6.4513	10.8287	0.46649	0.9256:0.0:0.0744:0.0	.	189	Q9BY21	GPR87_HUMAN	N	189	ENSP00000260843:I189N	ENSP00000260843:I189N	I	-	2	0	GPR87	152495158	0.027000	0.19231	0.021000	0.16686	0.003000	0.03518	3.123000	0.50453	1.030000	0.39839	0.533000	0.62120	ATC		0.448	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1			5	489	0	0	0	1	0	5	489				
ZNF57	126295	broad.mit.edu	37	19	2917735	2917735	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:2917735C>A	ENST00000306908.5	+	4	1264	c.1116C>A	c.(1114-1116)gcC>gcA	p.A372A	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Silent_p.A340A	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	372					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGGAAAGCCTTCACTTGGT	0.438																																					NSCLC(150;910 1964 4303 10464 26498)	ENST00000306908.5																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1114-1116)gcC>gcA		zinc finger protein 57							90.0	80.0	83.0					19																	2917735		2203	4300	6503	SO:0001819	synonymous_variant	126295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2917735C>A	M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"""Zinc fingers, C2H2-type"", ""-"""	13125	protein-coding gene	gene with protein product			"""zinc finger protein 424"""	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.1116C>A	19.37:g.2917735C>A			Somatic				ZNF57_ENST00000523428.1_Silent_p.A340A|AC006277.2_ENST00000520090.2_RNA	p.A372A	NM_173480.2	NP_775751.1	WXS	Illumina GAIIx	Phase_I	Q68EA5	ZNF57_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1264	+			372					Q8N6R9	Silent	SNP	ENST00000306908.5	37	c.1116C>A	CCDS12098.1																																																																																				0.438	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1	NM_173480		45	140	1	0	2.18419e-29	1	2.91721e-29	45	140				
FDX1	2230	broad.mit.edu	37	11	110327646	110327646	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:110327646A>G	ENST00000260270.2	+	3	553	c.315A>G	c.(313-315)gcA>gcG	p.A105A		NM_004109.4	NP_004100.1	P10109	ADX_HUMAN	ferredoxin 1	105	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				cholesterol metabolic process (GO:0008203)|hormone biosynthetic process (GO:0042446)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)			lung(2)	2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	TGTCAGGTGCATGTGAGGGAA	0.418																																						ENST00000260270.2																			0				lung(2)	2						c.(313-315)gcA>gcG		ferredoxin 1	Mitotane(DB00648)						349.0	285.0	307.0					11																	110327646		2201	4298	6499	SO:0001819	synonymous_variant	2230				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding	g.chr11:110327646A>G	M23668	CCDS8344.1	11q22.3	2008-02-01			ENSG00000137714	ENSG00000137714			3638	protein-coding gene	gene with protein product	"""adrenodoxin"""	103260		FDX		2969697	Standard	NM_004109		Approved	ADX	uc001pkx.3	P10109	OTTHUMG00000166589	ENST00000260270.2:c.315A>G	11.37:g.110327646A>G			Somatic					p.A105A	NM_004109.4	NP_004100.1	WXS	Illumina GAIIx	Phase_I	P10109	ADX_HUMAN		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	3	553	+		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	105			2Fe-2S ferredoxin-type.		B0YJ14|Q53YD6	Silent	SNP	ENST00000260270.2	37	c.315A>G	CCDS8344.1																																																																																				0.418	FDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390590.1	NM_004109		6	349	0	0	0	1	0	6	349				
OR4D1	26689	broad.mit.edu	37	17	56232613	56232613	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:56232613A>T	ENST00000268912.5	+	1	120	c.99A>T	c.(97-99)ttA>ttT	p.L33F		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	33					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						TGTTCCTGTTAGTCTATGTTA	0.458																																						ENST00000268912.5																			0				kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(97-99)ttA>ttT		olfactory receptor, family 4, subfamily D, member 1							145.0	144.0	145.0					17																	56232613		2027	4204	6231	SO:0001583	missense	26689				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56232613A>T	X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"""GPCR / Class A : Olfactory receptors"""	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.99A>T	17.37:g.56232613A>T	ENSP00000365451:p.Leu33Phe		Somatic					p.L33F	NM_012374.1	NP_036506.1	WXS	Illumina GAIIx	Phase_I	Q15615	OR4D1_HUMAN			1	120	+			33					B2RN14|Q8NGB1|Q96R76	Missense_Mutation	SNP	ENST00000268912.5	37	c.99A>T	CCDS42365.1	.	.	.	.	.	.	.	.	.	.	a	1.916	-0.449506	0.04572	.	.	ENSG00000141194	ENST00000268912	T	0.13901	2.55	5.48	-1.36	0.09085	.	1.091030	0.07211	N	0.859171	T	0.10981	0.0268	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.40961	-0.9535	10	0.22706	T	0.39	1.0207	6.8548	0.24034	0.2381:0.0:0.4019:0.3601	.	33	Q15615	OR4D1_HUMAN	F	33	ENSP00000365451:L33F	ENSP00000365451:L33F	L	+	3	2	OR4D1	53587612	0.000000	0.05858	0.069000	0.20011	0.142000	0.21351	-0.156000	0.10100	-0.203000	0.10251	-0.444000	0.05651	TTA		0.458	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443364.1			7	233	0	0	0	1	0	7	233				
GPR65	8477	broad.mit.edu	37	14	88477948	88477948	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:88477948G>T	ENST00000267549.3	+	2	1315	c.757G>T	c.(757-759)Gag>Tag	p.E253*	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	253					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						CTGCATTTTAGAGCATGCTGT	0.383																																						ENST00000267549.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						c.(757-759)Gag>Tag		G protein-coupled receptor 65							103.0	94.0	97.0					14																	88477948		2203	4300	6503	SO:0001587	stop_gained	8477				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:88477948G>T	U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"""GPCR / Class A : Orphans"""	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.757G>T	14.37:g.88477948G>T	ENSP00000267549:p.Glu253*		Somatic				RP11-300J18.2_ENST00000554433.1_RNA	p.E253*	NM_003608.3	NP_003599.2	WXS	Illumina GAIIx	Phase_I	Q8IYL9	PSYR_HUMAN			2	1315	+			253					O75819	Nonsense_Mutation	SNP	ENST00000267549.3	37	c.757G>T	CCDS9879.1	.	.	.	.	.	.	.	.	.	.	G	38	6.964540	0.97967	.	.	ENSG00000140030	ENST00000267549	.	.	.	6.16	5.27	0.74061	.	0.871275	0.09841	N	0.748839	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	15.9802	0.80102	0.0651:0.0:0.9349:0.0	.	.	.	.	X	253	.	ENSP00000267549:E253X	E	+	1	0	GPR65	87547701	1.000000	0.71417	0.980000	0.43619	0.408000	0.30992	7.398000	0.79919	2.937000	0.99478	0.650000	0.86243	GAG		0.383	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4			5	252	1	0	1.23904e-05	1	1.42538e-05	5	252				
EXTL2	2135	broad.mit.edu	37	1	101339500	101339500	+	Nonstop_Mutation	SNP	A	A	T	rs372520087		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:101339500A>T	ENST00000370114.3	-	5	2427	c.991T>A	c.(991-993)Taa>Aaa	p.*331K	EXTL2_ENST00000370113.3_Nonstop_Mutation_p.*331K|EXTL2_ENST00000535414.1_Nonstop_Mutation_p.*318K	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	0					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TTTTACTTTTATATTTTTCTT	0.303																																						ENST00000370114.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14						c.(991-993)Taa>Aaa		exostosin-like glycosyltransferase 2							42.0	47.0	45.0					1																	101339500		2197	4290	6487	SO:0001578	stop_lost	2135				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr1:101339500A>T	U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"""Exostosin glycosyltransferase family"""	3516	protein-coding gene	gene with protein product	"""alpha-1,4-N-acteylhexosaminyltransferase"""	602411	"""exostoses (multiple)-like 2"""			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.991T>A	1.37:g.101339500A>T			Somatic				EXTL2_ENST00000535414.1_Nonstop_Mutation_p.*318K|EXTL2_ENST00000370113.3_Nonstop_Mutation_p.*331K	p.*331K	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	WXS	Illumina GAIIx	Phase_I	Q9UBQ6	EXTL2_HUMAN		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)	5	2427	-		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	0					B2R795|D3DT60	Nonstop_Mutation	SNP	ENST00000370114.3	37	c.991T>A	CCDS775.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.760436	0.49468	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6278	0.76874	1.0:0.0:0.0:0.0	.	.	.	.	K	331;331;318	.	.	X	-	1	0	EXTL2	101112088	1.000000	0.71417	0.915000	0.36163	0.555000	0.35460	7.681000	0.84073	2.280000	0.76307	0.460000	0.39030	TAA		0.303	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	NM_001439		4	49	0	0	0	1	0	4	49				
BLK	640	broad.mit.edu	37	8	11412980	11412980	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:11412980C>A	ENST00000259089.4	+	8	1351	c.759C>A	c.(757-759)ggC>ggA	p.G253G	RP11-148O21.2_ENST00000533322.1_RNA|RP11-148O21.4_ENST00000528629.1_RNA|RP11-148O21.3_ENST00000527922.1_RNA|BLK_ENST00000529894.1_Silent_p.G182G|RP11-148O21.6_ENST00000602626.1_lincRNA	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		GACAATTCGGCGAAGTCTGGA	0.607																																						ENST00000259089.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27						c.(757-759)ggC>ggA		B lymphoid tyrosine kinase							108.0	109.0	109.0					8																	11412980		2203	4300	6503	SO:0001819	synonymous_variant	640				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:11412980C>A	BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"""SH2 domain containing"""	1057	protein-coding gene	gene with protein product		191305	"""B lymphoid tyrosine kinase"""			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.759C>A	8.37:g.11412980C>A			Somatic				BLK_ENST00000529894.1_Silent_p.G182G	p.G253G	NM_001715.2	NP_001706.2	WXS	Illumina GAIIx	Phase_I	P51451	BLK_HUMAN	STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)	8	1351	+			253			Protein kinase.		Q16291|Q96IN1	Silent	SNP	ENST00000259089.4	37	c.759C>A	CCDS5982.1																																																																																				0.607	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1			7	58	1	0	0.335167	1	0.337459	7	58				
MYL1	4632	broad.mit.edu	37	2	211163200	211163200	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:211163200C>T	ENST00000352451.3	-	3	395	c.248G>A	c.(247-249)gGc>gAc	p.G83D	MYL1_ENST00000341685.4_Missense_Mutation_p.G39D|MYL1_ENST00000496436.1_5'UTR	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	83	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|sarcomere (GO:0030017)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GGGATTTGTGCCCAGAGCTCG	0.463																																						ENST00000352451.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16						c.(247-249)gGc>gAc		myosin, light chain 1, alkali; skeletal, fast							153.0	143.0	146.0					2																	211163200		2203	4300	6503	SO:0001583	missense	4632				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle	g.chr2:211163200C>T		CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530		"""Myosins / Light chain"", ""EF-hand domain containing"""	7582	protein-coding gene	gene with protein product		160780	"""myosin, light polypeptide 1, alkali; skeletal, fast"""			2304459, 3422212	Standard	NM_079422		Approved		uc002vec.3	P05976	OTTHUMG00000132992	ENST00000352451.3:c.248G>A	2.37:g.211163200C>T	ENSP00000307280:p.Gly83Asp		Somatic				MYL1_ENST00000341685.4_Missense_Mutation_p.G39D|MYL1_ENST00000496436.1_5'UTR	p.G83D	NM_079420.2	NP_524144.1	WXS	Illumina GAIIx	Phase_I	P05976	MYL1_HUMAN		Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)	3	395	-			83			EF-hand 1.		B2R4N6|B2R4T6|P06741|Q6IBD5	Missense_Mutation	SNP	ENST00000352451.3	37	c.248G>A	CCDS2390.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008113	0.93287	.	.	ENSG00000168530	ENST00000341685;ENST00000352451	T;T	0.78126	-1.15;-1.15	5.22	5.22	0.72569	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89972	0.6870	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91633	0.5320	10	0.87932	D	0	.	18.8527	0.92238	0.0:1.0:0.0:0.0	.	83;39	P05976;P05976-2	MYL1_HUMAN;.	D	39;83	ENSP00000343321:G39D;ENSP00000307280:G83D	ENSP00000343321:G39D	G	-	2	0	MYL1	210871445	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.818000	0.86416	2.451000	0.82905	0.650000	0.86243	GGC		0.463	MYL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256566.2	NM_079420		4	168	0	0	0	1	0	4	168				
GZF1	64412	broad.mit.edu	37	20	23345617	23345617	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:23345617G>T	ENST00000338121.5	+	2	674	c.597G>T	c.(595-597)aaG>aaT	p.K199N	GZF1_ENST00000377051.2_Missense_Mutation_p.K199N|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	199					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TGCCACCGAAGAAGTCCAAGG	0.527																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(595-597)aaG>aaT		GDNF-inducible zinc finger protein 1							49.0	51.0	50.0					20																	23345617		2203	4300	6503	SO:0001583	missense	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23345617G>T	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.597G>T	20.37:g.23345617G>T	ENSP00000338290:p.Lys199Asn		Somatic				GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.K199N	p.K199N			WXS	Illumina GAIIx	Phase_I	Q9H116	GZF1_HUMAN			2	674	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		199					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	c.597G>T	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	G	3.506	-0.100832	0.06967	.	.	ENSG00000125812	ENST00000338121;ENST00000377051	T;T	0.09723	2.95;2.95	4.28	2.25	0.28309	.	0.446086	0.20578	N	0.089597	T	0.04770	0.0129	N	0.14661	0.345	0.09310	N	1	B	0.21520	0.057	B	0.15870	0.014	T	0.40098	-0.9581	10	0.17832	T	0.49	.	4.5862	0.12284	0.2806:0.1788:0.5406:0.0	.	199	Q9H116	GZF1_HUMAN	N	199	ENSP00000338290:K199N;ENSP00000366250:K199N	ENSP00000338290:K199N	K	+	3	2	GZF1	23293617	0.095000	0.21747	0.641000	0.29422	0.056000	0.15407	0.322000	0.19576	1.021000	0.39600	0.637000	0.83480	AAG		0.527	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		6	272	1	0	0.00307968	1	0.00333443	6	272				
OR52B6	340980	broad.mit.edu	37	11	5602518	5602518	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:5602518G>T	ENST00000345043.2	+	1	412	c.412G>T	c.(412-414)Gcc>Tcc	p.A138S	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGGCCATGGCCTTTGACCG	0.522																																						ENST00000345043.2																			0				endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12						c.(412-414)Gcc>Tcc		olfactory receptor, family 52, subfamily B, member 6							118.0	120.0	119.0					11																	5602518		2201	4297	6498	SO:0001583	missense	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5602518G>T	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.412G>T	11.37:g.5602518G>T	ENSP00000341581:p.Ala138Ser		Somatic				HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	p.A138S	NM_001005162.2	NP_001005162.2	WXS	Illumina GAIIx	Phase_I	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	412	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	138					Q6IFI7	Missense_Mutation	SNP	ENST00000345043.2	37	c.412G>T	CCDS41611.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309862	0.81247	.	.	ENSG00000187747	ENST00000345043	T	0.39787	1.06	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39146	U	0.001449	T	0.65852	0.2731	M	0.73962	2.25	0.34923	D	0.748605	D	0.89917	1.0	D	0.97110	1.0	T	0.75676	-0.3235	10	0.72032	D	0.01	.	17.3508	0.87323	0.0:0.0:1.0:0.0	.	138	Q8NGF0	O52B6_HUMAN	S	138	ENSP00000341581:A138S	ENSP00000341581:A138S	A	+	1	0	OR52B6	5559094	1.000000	0.71417	0.998000	0.56505	0.873000	0.50193	4.789000	0.62446	2.673000	0.90976	0.650000	0.86243	GCC		0.522	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		37	322	1	0	9.80977e-26	1	1.29261e-25	37	322				
SMG7	9887	broad.mit.edu	37	1	183495729	183495729	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:183495729A>T	ENST00000347615.2	+	5	431		c.e5-1		SMG7_ENST00000367537.3_Splice_Site|SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000456731.2_Splice_Site|SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000508461.1_Splice_Site	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor						gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TTTTTCTTTTAGTTATTACAA	0.333																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.e6-1		SMG7 nonsense mediated mRNA decay factor							70.0	75.0	74.0					1																	183495729		2203	4300	6503	SO:0001630	splice_region_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183495729A>T	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.313-1A>T	1.37:g.183495729A>T			Somatic				SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000347615.2_Splice_Site|SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000456731.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q92540	SMG7_HUMAN			6	594	+								B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Splice_Site	SNP	ENST00000347615.2	37		CCDS1355.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.464105	0.63513	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1025	0.81194	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMG7	181762352	1.000000	0.71417	0.974000	0.42286	0.892000	0.51952	8.638000	0.91019	2.254000	0.74563	0.533000	0.62120	.		0.333	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837	Intron	4	35	0	0	0	1	0	4	35				
FRYL	285527	broad.mit.edu	37	4	48523136	48523136	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:48523136C>A	ENST00000503238.1	-	52	7617	c.7618G>T	c.(7618-7620)Gtg>Ttg	p.V2540L	FRYL_ENST00000537810.1_Missense_Mutation_p.V2540L|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.V2540L|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	2540					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATTTGAAGCACTTCCTCTGTT	0.488																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(7618-7620)Gtg>Ttg		FRY-like							115.0	111.0	112.0					4																	48523136		1888	4123	6011	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48523136C>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.7618G>T	4.37:g.48523136C>A	ENSP00000426064:p.Val2540Leu		Somatic				FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.V2540L|FRYL_ENST00000358350.4_Missense_Mutation_p.V2540L|FRYL_ENST00000264319.7_5'UTR	p.V2540L			WXS	Illumina GAIIx	Phase_I	O94915	FRYL_HUMAN			55	8222	-			2540					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.7618G>T	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.357|5.357	0.251206|0.251206	0.10130|0.10130	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000514617|ENST00000503238;ENST00000358350;ENST00000537810	.|T;T;T	.|0.22539	.|1.95;1.95;1.95	5.4|5.4	2.72|2.72	0.32119|0.32119	.|.	.|1.025940	.|0.07723	.|N	.|0.944007	T|T	0.23370|0.23370	0.0565|0.0565	L|L	0.52364|0.52364	1.645|1.645	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.22683	.|0.044;0.044;0.073	.|B;B;B	.|0.21708	.|0.036;0.014;0.033	T|T	0.03463|0.03463	-1.1034|-1.1034	5|10	.|0.25106	.|T	.|0.35	.|.	13.3039|13.3039	0.60340|0.60340	0.0:0.8055:0.0:0.1945|0.0:0.8055:0.0:0.1945	.|.	.|1370;2540;2540	.|Q6ZR29;O94915;F5GX82	.|.;FRYL_HUMAN;.	I|L	1409|2540	.|ENSP00000426064:V2540L;ENSP00000351113:V2540L;ENSP00000441114:V2540L	.|ENSP00000351113:V2540L	S|V	-|-	2|1	0|0	FRYL|FRYL	48217893|48217893	0.763000|0.763000	0.28462|0.28462	0.001000|0.001000	0.08648|0.08648	0.000000|0.000000	0.00434|0.00434	2.442000|2.442000	0.44873|0.44873	0.087000|0.087000	0.17167|0.17167	-1.119000|-1.119000	0.02030|0.02030	AGT|GTG		0.488	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			7	351	1	0	0.00307968	1	0.00333443	7	351				
ATP2A2	488	broad.mit.edu	37	12	110777203	110777203	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:110777203G>A	ENST00000539276.2	+	12	1646	c.1537G>A	c.(1537-1539)Gtg>Atg	p.V513M	ATP2A2_ENST00000395494.2_Missense_Mutation_p.V486M|ATP2A2_ENST00000308664.6_Missense_Mutation_p.V513M			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	513					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CAAGATGTTTGTGAAGGCAAG	0.373																																						ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(1456-1458)Gtg>Atg		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							105.0	95.0	98.0					12																	110777203		2203	4300	6503	SO:0001583	missense	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110777203G>A		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.1537G>A	12.37:g.110777203G>A	ENSP00000440045:p.Val513Met		Somatic				ATP2A2_ENST00000539276.2_Missense_Mutation_p.V513M|ATP2A2_ENST00000308664.6_Missense_Mutation_p.V513M	p.V486M			WXS	Illumina GAIIx	Phase_I	P16615	AT2A2_HUMAN			11	2019	+			513					A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	c.1456G>A	CCDS9144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.3|26.3	4.720198|4.720198	0.89205|0.89205	.|.	.|.	ENSG00000174437|ENSG00000174437	ENST00000548169|ENST00000308664;ENST00000395494;ENST00000539276	.|D;D;D	.|0.92595	.|-3.07;-3.07;-3.07	5.85|5.85	5.85|5.85	0.93711|0.93711	.|ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);ATPase, P-type, cytoplasmic domain N (1);	.|0.750249	.|0.13477	.|N	.|0.384983	D|D	0.95815|0.95815	0.8638|0.8638	M|M	0.79123|0.79123	2.44|2.44	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.60160	.|0.971;0.983;0.987	.|P;P;P	.|0.58721	.|0.844;0.795;0.818	D|D	0.95336|0.95336	0.8434|0.8434	5|10	.|0.87932	.|D	.|0	.|.	20.1588|20.1588	0.98128|0.98128	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|486;513;513	.|P16615-4;P16615-2;P16615	.|.;.;AT2A2_HUMAN	Y|M	403|513;486;513	.|ENSP00000311186:V513M;ENSP00000378872:V486M;ENSP00000440045:V513M	.|ENSP00000311186:V513M	C|V	+|+	2|1	0|0	ATP2A2|ATP2A2	109261586|109261586	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	6.611000|6.611000	0.74183|0.74183	2.770000|2.770000	0.95276|0.95276	0.563000|0.563000	0.77884|0.77884	TGT|GTG		0.373	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		3	45	0	0	0	1	0	3	45				
SPTBN2	6712	broad.mit.edu	37	11	66463969	66463969	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:66463969G>A	ENST00000533211.1	-	21	4388	c.4057C>T	c.(4057-4059)Ctg>Ttg	p.L1353L	SPTBN2_ENST00000309996.2_Silent_p.L1353L|SPTBN2_ENST00000529997.1_Silent_p.L1353L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1353					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCCGACACCAGGGCTTTCAGC	0.577																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(4057-4059)Ctg>Ttg		spectrin, beta, non-erythrocytic 2							95.0	105.0	102.0					11																	66463969		2200	4295	6495	SO:0001819	synonymous_variant	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66463969G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.4057C>T	11.37:g.66463969G>A			Somatic				SPTBN2_ENST00000309996.2_Silent_p.L1353L|SPTBN2_ENST00000529997.1_Silent_p.L1353L	p.L1353L			WXS	Illumina GAIIx	Phase_I	O15020	SPTN2_HUMAN			21	4388	-			1353					O14872|O14873	Silent	SNP	ENST00000533211.1	37	c.4057C>T	CCDS8150.1																																																																																				0.577	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		5	757	0	0	0	1	0	5	757				
OR7G2	390882	broad.mit.edu	37	19	9213196	9213196	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:9213196C>A	ENST00000305456.2	-	1	786	c.787G>T	c.(787-789)Ggg>Tgg	p.G263W		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						AGGTGAGACCCACAGGTGGAA	0.473																																					Esophageal Squamous(67;143 1448 28637 40648)	ENST00000305456.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						c.(787-789)Ggg>Tgg		olfactory receptor, family 7, subfamily G, member 2							116.0	104.0	108.0					19																	9213196		2203	4300	6503	SO:0001583	missense	390882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9213196C>A		CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"""GPCR / Class A : Olfactory receptors"""	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.787G>T	19.37:g.9213196C>A	ENSP00000303822:p.Gly263Trp		Somatic					p.G263W	NM_001005193.1	NP_001005193.1	WXS	Illumina GAIIx	Phase_I	Q8NG99	OR7G2_HUMAN			1	786	-			242					Q6IFJ4|Q96RA0	Missense_Mutation	SNP	ENST00000305456.2	37	c.787G>T	CCDS32897.1	.	.	.	.	.	.	.	.	.	.	c	7.313	0.615464	0.14129	.	.	ENSG00000170923	ENST00000305456	T	0.37915	1.17	3.14	3.14	0.36123	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38164	U	0.001789	T	0.68641	0.3023	H	0.98577	4.27	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63079	-0.6717	10	0.87932	D	0	.	4.8242	0.13408	0.0:0.6552:0.223:0.1218	.	242	Q8NG99	OR7G2_HUMAN	W	263	ENSP00000303822:G263W	ENSP00000303822:G263W	G	-	1	0	OR7G2	9074196	0.000000	0.05858	0.990000	0.47175	0.043000	0.13939	-0.838000	0.04372	2.115000	0.64714	0.447000	0.29281	GGG		0.473	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448994.1			7	186	1	0	0.00448238	1	0.00483539	7	186				
GALNT15	117248	broad.mit.edu	37	3	16254213	16254213	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:16254213G>A	ENST00000339732.5	+	6	1838	c.1335G>A	c.(1333-1335)ctG>ctA	p.L445L	GALNT15_ENST00000437509.1_Silent_p.L445L	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	445					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)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										AGACCTGGCTGGGGTCATTCA	0.562																																						ENST00000339732.5																			0											c.(1333-1335)ctG>ctA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15							101.0	100.0	100.0					3																	16254213		2203	4300	6503	SO:0001819	synonymous_variant	117248							g.chr3:16254213G>A	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1335G>A	3.37:g.16254213G>A			Somatic				GALNT15_ENST00000437509.1_Silent_p.L445L	p.L445L	NM_054110.4	NP_473451.3	WXS	Illumina GAIIx	Phase_I					6	1838	+								A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Silent	SNP	ENST00000339732.5	37	c.1335G>A	CCDS33711.1																																																																																				0.562	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		6	796	0	0	0	1	0	6	796				
CFAP53	220136	broad.mit.edu	37	18	47777146	47777146	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:47777146A>T	ENST00000398545.4	-	5	1095	c.978T>A	c.(976-978)gaT>gaA	p.D326E		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GTTTCTTTTTATCTGCCTCTT	0.423																																						ENST00000398545.4																			0				endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20						c.(976-978)gaT>gaA		coiled-coil domain containing 11							241.0	215.0	223.0					18																	47777146		1854	4095	5949	SO:0001583	missense	220136							g.chr18:47777146A>T																												ENST00000398545.4:c.978T>A	18.37:g.47777146A>T	ENSP00000381553:p.Asp326Glu		Somatic					p.D326E	NM_145020.3	NP_659457.2	WXS	Illumina GAIIx	Phase_I	Q96M91	CCD11_HUMAN		STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)	5	1095	-			326						Missense_Mutation	SNP	ENST00000398545.4	37	c.978T>A	CCDS11940.2	.	.	.	.	.	.	.	.	.	.	A	11.43	1.637057	0.29157	.	.	ENSG00000172361	ENST00000398545	T	0.07216	3.21	5.96	-2.61	0.06171	.	0.445863	0.24823	N	0.035311	T	0.03477	0.0100	L	0.31664	0.95	0.29478	N	0.856576	B	0.12013	0.005	B	0.16722	0.016	T	0.44345	-0.9334	10	0.02654	T	1	-7.8359	3.1294	0.06418	0.2438:0.468:0.1605:0.1277	.	326	Q96M91	CCD11_HUMAN	E	326	ENSP00000381553:D326E	ENSP00000381553:D326E	D	-	3	2	CCDC11	46031144	0.973000	0.33851	0.928000	0.36995	0.945000	0.59286	0.003000	0.13083	-0.079000	0.12707	0.533000	0.62120	GAT		0.423	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3			9	877	0	0	0	1	0	9	877				
ETAA1	54465	broad.mit.edu	37	2	67632411	67632411	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:67632411C>T	ENST00000272342.5	+	5	2727	c.2597C>T	c.(2596-2598)gCt>gTt	p.A866V	ETAA1_ENST00000462772.1_3'UTR	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	866						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						CTGGAGGAAGCTGTTGGACAG	0.333																																						ENST00000272342.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						c.(2596-2598)gCt>gTt		Ewing tumor-associated antigen 1							35.0	36.0	35.0					2																	67632411		2188	4264	6452	SO:0001583	missense	54465					cytoplasm|nucleus		g.chr2:67632411C>T	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.2597C>T	2.37:g.67632411C>T	ENSP00000272342:p.Ala866Val		Somatic				ETAA1_ENST00000462772.1_3'UTR	p.A866V	NM_019002.3	NP_061875.2	WXS	Illumina GAIIx	Phase_I	Q9NY74	ETAA1_HUMAN			5	2727	+			866					Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	c.2597C>T	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	C	0.080	-1.186163	0.01620	.	.	ENSG00000143971	ENST00000272342	T	0.20332	2.08	5.04	1.15	0.20763	.	1.561260	0.03244	N	0.180918	T	0.18800	0.0451	L	0.50333	1.59	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.22765	-1.0207	10	0.33141	T	0.24	-2.8515	1.0209	0.01517	0.1707:0.4202:0.1455:0.2636	.	866	Q9NY74	ETAA1_HUMAN	V	866	ENSP00000272342:A866V	ENSP00000272342:A866V	A	+	2	0	ETAA1	67485915	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.053000	0.11846	0.243000	0.21327	-0.844000	0.03045	GCT		0.333	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		3	36	0	0	0	1	0	3	36				
ACAP1	9744	broad.mit.edu	37	17	7246727	7246727	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:7246727G>A	ENST00000158762.3	+	6	580	c.374G>A	c.(373-375)cGg>cAg	p.R125Q	ACAP1_ENST00000573893.1_3'UTR	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	125	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GAGGCTCGCCGGGATTTCTGG	0.632																																						ENST00000158762.3																			0				NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(373-375)cGg>cAg		ArfGAP with coiled-coil, ankyrin repeat and PH domains 1							43.0	53.0	49.0					17																	7246727		2201	4299	6500	SO:0001583	missense	9744				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	g.chr17:7246727G>A	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.374G>A	17.37:g.7246727G>A	ENSP00000158762:p.Arg125Gln		Somatic				ACAP1_ENST00000573893.1_3'UTR	p.R125Q	NM_014716.3	NP_055531.1	WXS	Illumina GAIIx	Phase_I	Q15027	ACAP1_HUMAN			6	580	+			125			BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.		Q53XN9	Missense_Mutation	SNP	ENST00000158762.3	37	c.374G>A	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775484	0.70107	.	.	ENSG00000072818	ENST00000158762	T	0.04551	3.6	5.24	4.2	0.49525	Phospholipase C, phosphatidylinositol-specific , X domain (1);	0.063724	0.64402	D	0.000010	T	0.03390	0.0098	L	0.38531	1.155	0.80722	D	1	D	0.54772	0.968	B	0.35039	0.194	T	0.41395	-0.9511	10	0.56958	D	0.05	.	6.8936	0.24243	0.0931:0.1783:0.7286:0.0	.	125	Q15027	ACAP1_HUMAN	Q	125	ENSP00000158762:R125Q	ENSP00000158762:R125Q	R	+	2	0	ACAP1	7187451	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.545000	0.60698	2.618000	0.88619	0.462000	0.41574	CGG		0.632	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		4	177	0	0	0	1	0	4	177				
PAN2	9924	broad.mit.edu	37	12	56722041	56722041	+	Missense_Mutation	SNP	G	G	A	rs143838622		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:56722041G>A	ENST00000425394.2	-	4	930	c.554C>T	c.(553-555)aCt>aTt	p.T185I	PAN2_ENST00000257931.5_Missense_Mutation_p.T185I|PAN2_ENST00000548043.1_Missense_Mutation_p.T185I|PAN2_ENST00000440411.3_Missense_Mutation_p.T185I	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	CTCCTGGACAGTGTTAAGATC	0.507																																						ENST00000425394.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(553-555)aCt>aTt		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)			ILE/THR,ILE/THR,ILE/THR	0,4406		0,0,2203	142.0	137.0	139.0		554,554,554	4.4	1.0	12	dbSNP_134	139	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense	PAN2	NM_001127460.2,NM_001166279.1,NM_014871.4	89,89,89	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	possibly-damaging,possibly-damaging,possibly-damaging	185/1203,185/1202,185/1199	56722041	4,13002	2203	4300	6503	SO:0001583	missense	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56722041G>A	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.554C>T	12.37:g.56722041G>A	ENSP00000401721:p.Thr185Ile		Somatic				PAN2_ENST00000440411.3_Missense_Mutation_p.T185I|PAN2_ENST00000257931.5_Missense_Mutation_p.T185I|PAN2_ENST00000548043.1_Missense_Mutation_p.T185I	p.T185I	NM_001127460.2	NP_001120932.1	WXS	Illumina GAIIx	Phase_I	Q504Q3	PAN2_HUMAN			4	930	-			185						Missense_Mutation	SNP	ENST00000425394.2	37	c.554C>T	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310503	0.81358	0.0	4.65E-4	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043;ENST00000547572	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	4.45	4.45	0.53987	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.62405	0.2425	M	0.73217	2.22	0.58432	D	0.999992	D;D;D	0.69078	0.997;0.989;0.995	D;P;P	0.67725	0.953;0.838;0.898	T	0.65952	-0.6043	10	0.56958	D	0.05	-9.3223	16.3906	0.83533	0.0:0.0:1.0:0.0	.	185;185;185	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	I	185;185;185;185;46	ENSP00000401721:T185I;ENSP00000388231:T185I;ENSP00000257931:T185I;ENSP00000449861:T185I;ENSP00000449092:T46I	ENSP00000257931:T185I	T	-	2	0	PAN2	55008308	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.166000	0.64965	2.464000	0.83262	0.609000	0.83330	ACT		0.507	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		5	376	0	0	0	1	0	5	376				
DGKH	160851	broad.mit.edu	37	13	42788641	42788641	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr13:42788641A>T	ENST00000337343.4	+	25	3035		c.e25-1		DGKH_ENST00000540693.1_Splice_Site|DGKH_ENST00000261491.5_Splice_Site|DGKH_ENST00000379274.2_Splice_Site|DGKH_ENST00000498255.2_Splice_Site|DGKH_ENST00000536612.1_Splice_Site|DGKH_ENST00000538674.1_Splice_Site	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta						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)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TTTTGCTTTTAGGATATGTGA	0.358																																						ENST00000379274.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.e25-1		diacylglycerol kinase, eta							74.0	69.0	71.0					13																	42788641		2203	4300	6503	SO:0001630	splice_region_variant	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42788641A>T	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.3015-1A>T	13.37:g.42788641A>T			Somatic				DGKH_ENST00000536612.1_Splice_Site|DGKH_ENST00000498255.2_Splice_Site|DGKH_ENST00000540693.1_Splice_Site|DGKH_ENST00000538674.1_Splice_Site|DGKH_ENST00000261491.4_Splice_Site|DGKH_ENST00000337343.4_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	25	3035	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)						A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Splice_Site	SNP	ENST00000337343.4	37		CCDS9381.1	.	.	.	.	.	.	.	.	.	.	A	16.58	3.163967	0.57476	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7502	0.69519	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DGKH	41686641	1.000000	0.71417	0.947000	0.38551	0.763000	0.43281	9.300000	0.96151	2.088000	0.63022	0.528000	0.53228	.		0.358	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009	Intron	5	147	0	0	0	1	0	5	147				
ZNF195	7748	broad.mit.edu	37	11	3380960	3380960	+	Silent	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:3380960A>T	ENST00000399602.4	-	6	1404	c.1278T>A	c.(1276-1278)acT>acA	p.T426T	ZNF195_ENST00000005082.9_Silent_p.T403T|ZNF195_ENST00000526601.1_Silent_p.T407T|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000429541.2_Silent_p.T358T|ZNF195_ENST00000354599.6_Silent_p.T354T|ZNF195_ENST00000343338.7_Silent_p.T358T	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	426					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TCTTATGTTTAGTAAGGTCTG	0.433																																						ENST00000354599.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(1060-1062)acT>acA		zinc finger protein 195							107.0	112.0	110.0					11																	3380960		2152	4278	6430	SO:0001819	synonymous_variant	7748				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3380960A>T		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1278T>A	11.37:g.3380960A>T			Somatic				ZNF195_ENST00000343338.7_Silent_p.T358T|ZNF195_ENST00000429541.2_Silent_p.T358T|ZNF195_ENST00000399602.4_Silent_p.T426T|ZNF195_ENST00000005082.9_Silent_p.T403T|ZNF195_ENST00000526601.1_Silent_p.T407T|ZNF195_ENST00000528796.1_Intron	p.T354T	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	WXS	Illumina GAIIx	Phase_I	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	4	1166	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	426	Missing (in Ref. 2; BAD18466).				A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Silent	SNP	ENST00000399602.4	37	c.1062T>A	CCDS44522.1																																																																																				0.433	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			6	330	0	0	0	1	0	6	330				
BMP7	655	broad.mit.edu	37	20	55758861	55758861	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:55758861C>T	ENST00000395863.3	-	4	1380	c.875G>A	c.(874-876)cGg>cAg	p.R292Q	BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000395864.3_Intron|BMP7_ENST00000450594.2_Missense_Mutation_p.R292Q	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	292					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CCCCGTGGACCGGATGCTGCG	0.637																																						ENST00000395863.3																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(874-876)cGg>cAg		bone morphogenetic protein 7							76.0	67.0	70.0					20																	55758861		2203	4300	6503	SO:0001583	missense	655				BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	g.chr20:55758861C>T		CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1074	protein-coding gene	gene with protein product	"""osteogenic protein 1"""	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.875G>A	20.37:g.55758861C>T	ENSP00000379204:p.Arg292Gln		Somatic				BMP7_ENST00000450594.2_Missense_Mutation_p.R292Q|BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000395864.3_Intron	p.R292Q	NM_001719.2	NP_001710.1	WXS	Illumina GAIIx	Phase_I	P18075	BMP7_HUMAN	BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)		4	1380	-	all_lung(29;0.0133)|Melanoma(10;0.242)		292					Q9H512|Q9NTQ7	Missense_Mutation	SNP	ENST00000395863.3	37	c.875G>A	CCDS13455.1	.	.	.	.	.	.	.	.	.	.	C	37	6.176860	0.97348	.	.	ENSG00000101144	ENST00000395863;ENST00000450594	T;D	0.82167	-1.08;-1.58	5.48	5.48	0.80851	.	0.049998	0.85682	D	0.000000	D	0.89691	0.6788	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	0.979;1.0	P;D	0.83275	0.449;0.996	D	0.89689	0.3896	10	0.56958	D	0.05	.	19.3542	0.94404	0.0:1.0:0.0:0.0	.	292;292	P18075;B1AL00	BMP7_HUMAN;.	Q	292	ENSP00000379204:R292Q;ENSP00000398687:R292Q	ENSP00000379204:R292Q	R	-	2	0	BMP7	55192268	1.000000	0.71417	0.792000	0.32020	0.980000	0.70556	7.597000	0.82733	2.559000	0.86315	0.643000	0.83706	CGG		0.637	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2			5	776	0	0	0	1	0	5	776				
STAT2	6773	broad.mit.edu	37	12	56749927	56749927	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:56749927G>A	ENST00000314128.4	-	3	297	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	STAT2_ENST00000418572.2_Missense_Mutation_p.R92W|STAT2_ENST00000557235.1_Missense_Mutation_p.R92W			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	92					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TGAATGTCCCGGCAGAATTTC	0.512																																						ENST00000314128.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.(274-276)Cgg>Tgg		signal transducer and activator of transcription 2, 113kDa							93.0	93.0	93.0					12																	56749927		2203	4300	6503	SO:0001583	missense	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56749927G>A	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.274C>T	12.37:g.56749927G>A	ENSP00000315768:p.Arg92Trp		Somatic				STAT2_ENST00000418572.2_Missense_Mutation_p.R92W|STAT2_ENST00000557235.1_Missense_Mutation_p.R92W	p.R92W			WXS	Illumina GAIIx	Phase_I	P52630	STAT2_HUMAN			3	297	-			92					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	ENST00000314128.4	37	c.274C>T	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.296115	0.60086	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000553337;ENST00000418572	T;T;T	0.54279	0.58;0.58;0.58	4.93	3.07	0.35406	STAT transcription factor, protein interaction (4);	0.205366	0.43260	D	0.000581	T	0.64505	0.2604	M	0.79258	2.445	0.26575	N	0.973486	D;D;D	0.76494	0.998;0.998;0.999	P;P;P	0.60886	0.87;0.84;0.88	T	0.57763	-0.7755	10	0.87932	D	0	-32.2878	6.1928	0.20534	0.0939:0.0:0.7228:0.1833	.	92;92;92	B4DLC8;G3V2M6;P52630	.;.;STAT2_HUMAN	W	92	ENSP00000315768:R92W;ENSP00000450751:R92W;ENSP00000387354:R92W	ENSP00000315768:R92W	R	-	1	2	STAT2	55036194	0.583000	0.26757	0.138000	0.22173	0.759000	0.43091	1.596000	0.36718	0.778000	0.33520	0.655000	0.94253	CGG		0.512	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		6	433	0	0	0	1	0	6	433				
MAP1A	4130	broad.mit.edu	37	15	43820076	43820076	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:43820076C>A	ENST00000300231.5	+	4	6855	c.6405C>A	c.(6403-6405)tcC>tcA	p.S2135S	MAP1A_ENST00000399453.1_Silent_p.S2135S|MAP1A_ENST00000382031.1_Silent_p.S2373S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2135					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CTATGGGGTCCCCCACATTAT	0.577																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(7117-7119)tcC>tcA		microtubule-associated protein 1A	Estramustine(DB01196)						60.0	64.0	63.0					15																	43820076		1949	4153	6102	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43820076C>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.6405C>A	15.37:g.43820076C>A			Somatic				MAP1A_ENST00000300231.5_Silent_p.S2135S|MAP1A_ENST00000399453.1_Silent_p.S2135S	p.S2373S			WXS	Illumina GAIIx	Phase_I	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	7150	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	2135					O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.7119C>A	CCDS42031.1																																																																																				0.577	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		4	97	1	0	0.27861	1	0.281478	4	97				
MGP	4256	broad.mit.edu	37	12	15038693	15038693	+	Silent	SNP	G	G	A	rs142282008		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:15038693G>A	ENST00000539261.1	-	1	167	c.33C>T	c.(31-33)gcC>gcT	p.A11A	MGP_ENST00000228938.5_Silent_p.A11A|C12orf60_ENST00000527783.1_Intron	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	11					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|ossification (GO:0001503)|regulation of bone mineralization (GO:0030500)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|structural constituent of bone (GO:0008147)			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						CCGCTAAGGCGGCCAGGATGG	0.478																																						ENST00000539261.1																			0				large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						c.(31-33)gcC>gcT		matrix Gla protein		G	,	1,4405	2.1+/-5.4	0,1,2202	142.0	114.0	123.0		33,33	-1.8	1.0	12	dbSNP_134	123	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MGP	NM_000900.3,NM_001190839.1	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	11/104,11/129	15038693	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4256				cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone	g.chr12:15038693G>A	M58549	CCDS8669.1, CCDS53752.1	12p12.3	2006-12-15			ENSG00000111341	ENSG00000111341			7060	protein-coding gene	gene with protein product		154870				2394711	Standard	NM_000900		Approved		uc021qvr.1	P08493	OTTHUMG00000168740	ENST00000539261.1:c.33C>T	12.37:g.15038693G>A			Somatic				C12orf60_ENST00000527783.1_Intron|MGP_ENST00000228938.5_Silent_p.A11A	p.A11A	NM_000900.3	NP_000891.2	WXS	Illumina GAIIx	Phase_I	P08493	MGP_HUMAN			1	167	-			11					A0M8W5|B2R519|J3KMX7|Q2TU41|Q567P9|Q6ICN5	Silent	SNP	ENST00000539261.1	37	c.33C>T	CCDS8669.1																																																																																				0.478	MGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400864.1	NM_000900		4	203	0	0	0	1	0	4	203				
ETAA1	54465	broad.mit.edu	37	2	67630070	67630070	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:67630070C>A	ENST00000272342.5	+	4	636	c.506C>A	c.(505-507)gCa>gAa	p.A169E	ETAA1_ENST00000462772.1_3'UTR	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	169						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						CCCAGTGTAGCAAAAGGAAAA	0.353																																						ENST00000272342.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						c.(505-507)gCa>gAa		Ewing tumor-associated antigen 1							104.0	99.0	100.0					2																	67630070		2203	4299	6502	SO:0001583	missense	54465					cytoplasm|nucleus		g.chr2:67630070C>A	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.506C>A	2.37:g.67630070C>A	ENSP00000272342:p.Ala169Glu		Somatic				ETAA1_ENST00000462772.1_3'UTR	p.A169E	NM_019002.3	NP_061875.2	WXS	Illumina GAIIx	Phase_I	Q9NY74	ETAA1_HUMAN			4	636	+			169					Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	c.506C>A	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000248	0.54147	.	.	ENSG00000143971	ENST00000272342	T	0.25579	1.79	6.16	5.29	0.74685	.	0.245061	0.39834	N	0.001251	T	0.45054	0.1323	M	0.68952	2.095	0.28000	N	0.935318	D	0.54397	0.966	P	0.58266	0.836	T	0.45600	-0.9250	10	0.72032	D	0.01	-1.3916	13.8172	0.63299	0.0:0.8564:0.0:0.1436	.	169	Q9NY74	ETAA1_HUMAN	E	169	ENSP00000272342:A169E	ENSP00000272342:A169E	A	+	2	0	ETAA1	67483574	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	1.027000	0.30115	0.950000	0.37743	-0.813000	0.03139	GCA		0.353	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		7	66	1	0	0.0381472	1	0.0396974	7	66				
PCDHB14	56122	broad.mit.edu	37	5	140604589	140604589	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:140604589C>A	ENST00000239449.4	+	1	1512	c.1512C>A	c.(1510-1512)gtC>gtA	p.V504V	PCDHB14_ENST00000515856.2_Silent_p.V351V	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	504	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCCTTGGTCTCCATCAACG	0.657																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(1510-1512)gtC>gtA									100.0	106.0	104.0					5																	140604589		2203	4300	6503	SO:0001819	synonymous_variant	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604589C>A	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1512C>A	5.37:g.140604589C>A			Somatic				PCDHB14_ENST00000515856.2_Silent_p.V351V	p.V504V	NM_018934.2	NP_061757.1	WXS	Illumina GAIIx	Phase_I	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1512	+			504			Cadherin 5.		B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	37	c.1512C>A	CCDS4256.1																																																																																				0.657	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		3	79	1	0	0.184627	1	0.188467	3	79				
C11orf30	56946	broad.mit.edu	37	11	76183611	76183611	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:76183611A>T	ENST00000529032.1	+	7	835	c.835A>T	c.(835-837)Att>Ttt	p.I279F	C11orf30_ENST00000533248.1_Missense_Mutation_p.I293F|C11orf30_ENST00000524490.1_Missense_Mutation_p.I280F|C11orf30_ENST00000334736.3_Missense_Mutation_p.I279F|C11orf30_ENST00000525919.1_Missense_Mutation_p.I280F|C11orf30_ENST00000524767.1_Missense_Mutation_p.I294F|C11orf30_ENST00000343878.3_Missense_Mutation_p.I279F|C11orf30_ENST00000525038.1_Missense_Mutation_p.I294F			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	279	Interaction with BRCA2.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TCCTTAGGTTATTATAGTCAC	0.333																																						ENST00000529032.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						c.(835-837)Att>Ttt		chromosome 11 open reading frame 30							104.0	99.0	101.0					11																	76183611		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76183611A>T	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.835A>T	11.37:g.76183611A>T	ENSP00000432327:p.Ile279Phe		Somatic				C11orf30_ENST00000533248.1_Missense_Mutation_p.I293F|C11orf30_ENST00000525038.1_Missense_Mutation_p.I294F|C11orf30_ENST00000524767.1_Missense_Mutation_p.I294F|C11orf30_ENST00000524490.1_Missense_Mutation_p.I280F|C11orf30_ENST00000525919.1_Missense_Mutation_p.I280F|C11orf30_ENST00000343878.3_Missense_Mutation_p.I279F|C11orf30_ENST00000334736.3_Missense_Mutation_p.I279F	p.I279F			WXS	Illumina GAIIx	Phase_I	Q7Z589	EMSY_HUMAN			7	835	+			279			Interaction with BRCA2.		B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.835A>T	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.935843	0.73442	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.58509	0.2127	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.995;0.995;0.995;0.999;0.999;0.998;0.995;0.998	D;D;D;D;D;D;D;D	0.80764	0.979;0.979;0.979;0.994;0.994;0.974;0.979;0.974	T	0.60581	-0.7235	10	0.56958	D	0.05	-8.4257	16.4622	0.84064	1.0:0.0:0.0:0.0	.	293;294;294;279;229;280;280;279	B7ZKT8;B7ZKU2;B7ZKU0;Q7Z589-2;F5H2F0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;.;.;EMSY_HUMAN	F	280;279;279;229;294;293;280;294;279	ENSP00000431166:I280F;ENSP00000334130:I279F;ENSP00000344688:I279F;ENSP00000433205:I294F;ENSP00000433634:I293F;ENSP00000432010:I280F;ENSP00000436968:I294F;ENSP00000432327:I279F	ENSP00000334130:I279F	I	+	1	0	C11orf30	75861259	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.962000	0.93254	2.289000	0.77006	0.533000	0.62120	ATT		0.333	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		6	275	0	0	0	1	0	6	275				
TXNIP	10628	broad.mit.edu	37	1	145440676	145440676	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:145440676G>A	ENST00000369317.4	+	6	1210	c.876G>A	c.(874-876)ctG>ctA	p.L292L	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	292					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCTTGACCTGCCCCTGGTAA	0.498																																						ENST00000369317.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21						c.(874-876)ctG>ctA		thioredoxin interacting protein							108.0	106.0	107.0					1																	145440676		2203	4300	6503	SO:0001819	synonymous_variant	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145440676G>A	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.876G>A	1.37:g.145440676G>A			Somatic				TXNIP_ENST00000475171.1_Intron	p.L292L	NM_006472.3	NP_006463.3	WXS	Illumina GAIIx	Phase_I	Q9H3M7	TXNIP_HUMAN			6	1210	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		292					B4E3D3|Q16226|Q6PML0|Q9BXG9	Silent	SNP	ENST00000369317.4	37	c.876G>A	CCDS913.1																																																																																				0.498	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		8	116	0	0	0	1	0	8	116				
KLHL14	57565	broad.mit.edu	37	18	30350146	30350146	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:30350146G>T	ENST00000359358.4	-	2	847	c.409C>A	c.(409-411)Ctg>Atg	p.L137M	AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Missense_Mutation_p.L137M	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	137	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TCGAGCACCAGGCGCAGCCCG	0.657																																						ENST00000359358.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(409-411)Ctg>Atg		kelch-like family member 14							95.0	97.0	96.0					18																	30350146		2203	4300	6503	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30350146G>T	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.409C>A	18.37:g.30350146G>T	ENSP00000352314:p.Leu137Met		Somatic				KLHL14_ENST00000358095.4_Missense_Mutation_p.L137M|AC012123.1_ENST00000426194.1_Intron	p.L137M	NM_020805.1	NP_065856.1	WXS	Illumina GAIIx	Phase_I	Q9P2G3	KLH14_HUMAN			2	847	-			137			BTB.		A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.409C>A	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	G	3.598	-0.082230	0.07141	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.68181	-0.31;-0.31	4.34	3.46	0.39613	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000003	T	0.72350	0.3449	L	0.38175	1.15	0.48040	D	0.999571	D	0.69078	0.997	D	0.79108	0.992	T	0.69375	-0.5162	10	0.41790	T	0.15	.	12.9135	0.58192	0.159:0.0:0.841:0.0	.	137	Q9P2G3	KLH14_HUMAN	M	137	ENSP00000352314:L137M;ENSP00000350808:L137M	ENSP00000350808:L137M	L	-	1	2	KLHL14	28604144	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.544000	0.45761	0.409000	0.25649	-1.641000	0.00772	CTG		0.657	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			4	136	1	0	0.000602214	1	0.000662999	4	136				
DPP6	1804	broad.mit.edu	37	7	154379606	154379606	+	Intron	SNP	G	G	T	rs147606989		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:154379606G>T	ENST00000377770.3	+	6	768				DPP6_ENST00000427557.1_Intron|DPP6_ENST00000406326.1_Missense_Mutation_p.D292Y|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000404039.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6						cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTGGCTGGAGGATTGCAGGAG	0.562													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20460	0.0		0.0	False		,,,				2504	0.0				NSCLC(125;1384 1783 2490 7422 34254)	ENST00000406326.1																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(874-876)Gat>Tat		dipeptidyl-peptidase 6							145.0	131.0	135.0					7																	154379606		876	1991	2867	SO:0001627	intron_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154379606G>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.628-49925G>T	7.37:g.154379606G>T			Somatic				DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000427557.1_Intron	p.D292Y			WXS	Illumina GAIIx	Phase_I	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		6	1277	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	0						Missense_Mutation	SNP	ENST00000377770.3	37	c.874G>T		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	2.972	-0.212304	0.06140	.	.	ENSG00000130226	ENST00000406326	.	.	.	2.47	-0.517	0.11947	.	.	.	.	.	T	0.29321	0.0730	.	.	.	0.09310	N	1	B	0.22800	0.075	B	0.27500	0.08	T	0.35425	-0.9789	7	0.87932	D	0	.	2.9502	0.05859	0.3004:0.2402:0.4594:0.0	.	292	Q8IYG9	.	Y	292	.	ENSP00000384393:D292Y	D	+	1	0	DPP6	154010539	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.038000	0.12144	-0.145000	0.11294	0.313000	0.20887	GAT		0.562	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		32	1050	1	0	1.36565e-18	1	1.77957e-18	32	1050				
MMS22L	253714	broad.mit.edu	37	6	97599721	97599721	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:97599721G>T	ENST00000275053.4	-	23	3673	c.3408C>A	c.(3406-3408)aaC>aaA	p.N1136K	MMS22L_ENST00000369251.2_Missense_Mutation_p.N1096K	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1136					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGTATTGCAGGTTCTCTGTGG	0.438																																						ENST00000275053.4																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(3406-3408)aaC>aaA		MMS22-like, DNA repair protein							156.0	156.0	156.0					6																	97599721		2203	4300	6503	SO:0001583	missense	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97599721G>T		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.3408C>A	6.37:g.97599721G>T	ENSP00000275053:p.Asn1136Lys		Somatic				MMS22L_ENST00000369251.2_Missense_Mutation_p.N1096K	p.N1136K	NM_198468.2	NP_940870.2	WXS	Illumina GAIIx	Phase_I	Q6ZRQ5	MMS22_HUMAN			23	3673	-			1136					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	c.3408C>A	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.672415	0.67928	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.32988	3.58;1.43	5.44	5.44	0.79542	.	0.182978	0.51477	D	0.000094	T	0.23649	0.0572	L	0.54323	1.7	0.27148	N	0.961482	D;D	0.58620	0.983;0.962	P;P	0.52066	0.689;0.592	T	0.19811	-1.0294	10	0.62326	D	0.03	-15.5297	7.1041	0.25354	0.209:0.0:0.791:0.0	.	1096;1136	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	K	1136;1096	ENSP00000275053:N1136K;ENSP00000358254:N1096K	ENSP00000275053:N1136K	N	-	3	2	MMS22L	97706442	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.573000	0.46007	2.549000	0.85964	0.650000	0.86243	AAC		0.438	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		150	376	1	0	1.06673e-69	1	1.468e-69	150	376				
ZNF518B	85460	broad.mit.edu	37	4	10445694	10445694	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:10445694A>T	ENST00000326756.3	-	3	2697	c.2259T>A	c.(2257-2259)aaT>aaA	p.N753K		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	753					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TGGTTTTCCTATTACTGCCAT	0.453																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(2257-2259)aaT>aaA		zinc finger protein 518B							115.0	117.0	116.0					4																	10445694		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445694A>T	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2259T>A	4.37:g.10445694A>T	ENSP00000317614:p.Asn753Lys		Somatic					p.N753K	NM_053042.2	NP_444270.2	WXS	Illumina GAIIx	Phase_I	Q9C0D4	Z518B_HUMAN			3	2697	-			753					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.2259T>A	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.194524	0.38806	.	.	ENSG00000178163	ENST00000326756	T	0.01464	4.86	6.02	0.36	0.16097	.	1.146790	0.06447	N	0.727070	T	0.01189	0.0039	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.48958	-0.8988	10	0.25106	T	0.35	-4.3067	5.2998	0.15772	0.5675:0.2799:0.1525:0.0	.	753	Q9C0D4	Z518B_HUMAN	K	753	ENSP00000317614:N753K	ENSP00000317614:N753K	N	-	3	2	ZNF518B	10054792	0.001000	0.12720	0.050000	0.19076	0.005000	0.04900	0.748000	0.26305	0.136000	0.18733	0.533000	0.62120	AAT		0.453	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		6	472	0	0	0	1	0	6	472				
GSTCD	79807	broad.mit.edu	37	4	106640215	106640215	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:106640215A>T	ENST00000515279.1	+	3	646		c.e3-1		GSTCD_ENST00000507281.1_Splice_Site|GSTCD_ENST00000394728.3_Splice_Site|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394730.3_Splice_Site|GSTCD_ENST00000360505.5_Splice_Site			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing							extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TTTGTTTTGTAGGTTAGTCAG	0.338																																						ENST00000515279.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14						c.e3-1		glutathione S-transferase, C-terminal domain containing							54.0	62.0	59.0					4																	106640215		2192	4295	6487	SO:0001630	splice_region_variant	79807					cytoplasm	rRNA methyltransferase activity	g.chr4:106640215A>T	BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"""Glutathione S-transferase, C-terminal domain containing"""			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.427-1A>T	4.37:g.106640215A>T			Somatic				GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000507281.1_Splice_Site|GSTCD_ENST00000360505.5_Splice_Site|GSTCD_ENST00000394728.3_Splice_Site|GSTCD_ENST00000394730.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q8NEC7	GSTCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)	3	646	+		Hepatocellular(203;0.217)						A8K8J0|A8MVD3|H9KV97|Q9H8S3	Splice_Site	SNP	ENST00000515279.1	37		CCDS43257.1	.	.	.	.	.	.	.	.	.	.	A	17.41	3.383790	0.61845	.	.	ENSG00000138780	ENST00000394730;ENST00000507281;ENST00000515279;ENST00000360505;ENST00000510865;ENST00000509336;ENST00000394728	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0247	0.71659	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GSTCD	106859664	1.000000	0.71417	0.983000	0.44433	0.779000	0.44077	8.400000	0.90200	2.133000	0.65898	0.482000	0.46254	.		0.338	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363981.1	NM_024751	Intron	5	202	0	0	0	1	0	5	202				
NAV2	89797	broad.mit.edu	37	11	20089935	20089935	+	Silent	SNP	G	G	A	rs370089157		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:20089935G>A	ENST00000396087.3	+	24	5241	c.5142G>A	c.(5140-5142)ctG>ctA	p.L1714L	NAV2_ENST00000360655.4_Silent_p.L1594L|NAV2_ENST00000349880.4_Silent_p.L1658L|NAV2_ENST00000540292.1_Silent_p.L1645L|NAV2_ENST00000396085.1_Silent_p.L1658L|NAV2_ENST00000533917.1_Silent_p.L722L|NAV2_ENST00000311043.8_Silent_p.L722L|NAV2_ENST00000527559.2_Silent_p.L1643L	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1714					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCACCCAGCTGACAGCAAATG	0.512																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(4972-4974)ctG>ctA		neuron navigator 2							96.0	91.0	93.0					11																	20089935		2203	4300	6503	SO:0001819	synonymous_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:20089935G>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5142G>A	11.37:g.20089935G>A			Somatic				NAV2_ENST00000349880.4_Silent_p.L1658L|NAV2_ENST00000527559.2_Silent_p.L1643L|NAV2_ENST00000533917.1_Silent_p.L722L|NAV2_ENST00000540292.1_Silent_p.L1645L|NAV2_ENST00000396087.3_Silent_p.L1714L|NAV2_ENST00000360655.4_Silent_p.L1594L|NAV2_ENST00000311043.8_Silent_p.L722L	p.L1658L	NM_182964.5	NP_892009.3	WXS	Illumina GAIIx	Phase_I	Q8IVL1	NAV2_HUMAN			22	5335	+			1714			Ser-rich.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	c.4974G>A	CCDS58126.1																																																																																				0.512	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		15	84	0	0	0	1	0	15	84				
ZNF148	7707	broad.mit.edu	37	3	124952163	124952163	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:124952163C>A	ENST00000360647.4	-	9	1892	c.1407G>T	c.(1405-1407)caG>caT	p.Q469H	ZNF148_ENST00000497929.1_5'UTR|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.Q469H|ZNF148_ENST00000492394.1_Missense_Mutation_p.Q469H|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.Q469H	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	469					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TCTTCAAAAACTGCATGGCAT	0.443																																						ENST00000360647.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						c.(1405-1407)caG>caT		zinc finger protein 148							118.0	119.0	119.0					3																	124952163		2203	4300	6503	SO:0001583	missense	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124952163C>A	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.1407G>T	3.37:g.124952163C>A	ENSP00000353863:p.Gln469His		Somatic				ZNF148_ENST00000484491.1_Missense_Mutation_p.Q469H|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.Q469H|ZNF148_ENST00000492394.1_Missense_Mutation_p.Q469H|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000497929.1_5'UTR	p.Q469H	NM_021964.2	NP_068799.2	WXS	Illumina GAIIx	Phase_I	Q9UQR1	ZN148_HUMAN			9	1892	-			469					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.1407G>T	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183036	0.57800	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.49	2.58	0.30949	.	0.000000	0.85682	D	0.000000	T	0.67031	0.2850	M	0.65975	2.015	0.80722	D	1	D	0.65815	0.995	D	0.77557	0.99	T	0.68796	-0.5314	10	0.87932	D	0	-8.7949	10.6792	0.45804	0.0:0.7804:0.0:0.2196	.	469	Q9UQR1	ZN148_HUMAN	H	469	ENSP00000353863:Q469H;ENSP00000420335:Q469H;ENSP00000419322:Q469H;ENSP00000420448:Q469H	ENSP00000353863:Q469H	Q	-	3	2	ZNF148	126434853	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.959000	0.56744	0.813000	0.34350	-0.345000	0.07892	CAG		0.443	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		13	304	1	0	1.49906e-05	1	1.72114e-05	13	304				
KANK1	23189	broad.mit.edu	37	9	738458	738458	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:738458C>T	ENST00000382303.1	+	12	4159	c.3507C>T	c.(3505-3507)agC>agT	p.S1169S	KANK1_ENST00000382297.2_Silent_p.S1169S|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.S1011S	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1169	Interaction with KIF21A.				negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TCCATTACAGCGTGTCCCACT	0.527																																						ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(3505-3507)agC>agT		KN motif and ankyrin repeat domains 1							150.0	114.0	126.0					9																	738458		2203	4300	6503	SO:0001819	synonymous_variant	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:738458C>T	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3507C>T	9.37:g.738458C>T			Somatic				KANK1_ENST00000382293.3_Silent_p.S1011S|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.S1169S	p.S1169S	NM_001256876.1	NP_001243805.1	WXS	Illumina GAIIx	Phase_I	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	12	4159	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1169					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	c.3507C>T	CCDS34976.1																																																																																				0.527	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		6	899	0	0	0	1	0	6	899				
RARB	5915	broad.mit.edu	37	3	25611305	25611305	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:25611305G>T	ENST00000404969.1	+	4	526	c.526G>T	c.(526-528)Gag>Tag	p.E176*	RARB_ENST00000458646.1_Nonsense_Mutation_p.E57*|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000437042.2_Nonsense_Mutation_p.E57*|RARB_ENST00000330688.4_Nonsense_Mutation_p.E169*			P10826	RARB_HUMAN	retinoic acid receptor, beta	176	Hinge.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AGAATGCACAGAGAGCTATGA	0.488																																						ENST00000330688.4																			0				breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28						c.(505-507)Gag>Tag		retinoic acid receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)						127.0	121.0	123.0					3																	25611305		2203	4300	6503	SO:0001587	stop_gained	5915				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr3:25611305G>T	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.526G>T	3.37:g.25611305G>T	ENSP00000385865:p.Glu176*		Somatic				RARB_ENST00000404969.1_Nonsense_Mutation_p.E176*|RARB_ENST00000437042.2_Nonsense_Mutation_p.E57*|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Nonsense_Mutation_p.E57*	p.E169*	NM_000965.3	NP_000956.2	WXS	Illumina GAIIx	Phase_I	P10826	RARB_HUMAN			4	926	+			176			Hinge.		P12891|Q00989|Q15298|Q9UN48	Nonsense_Mutation	SNP	ENST00000404969.1	37	c.505G>T		.	.	.	.	.	.	.	.	.	.	G	41	8.562374	0.98863	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	.	.	.	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	17.8958	0.88887	0.0:0.0:1.0:0.0	.	.	.	.	X	176;176;176;57;169;57	.	ENSP00000332296:E169X	E	+	1	0	RARB	25586309	1.000000	0.71417	0.968000	0.41197	0.963000	0.63663	9.428000	0.97476	2.530000	0.85305	0.561000	0.74099	GAG		0.488	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		5	80	1	0	1.23904e-05	1	1.42538e-05	5	80				
IL32	9235	broad.mit.edu	37	16	3119294	3119294	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:3119294C>A	ENST00000534507.1	+	6	854	c.643C>A	c.(643-645)Cca>Aca	p.P215T	IL32_ENST00000444393.3_Missense_Mutation_p.P169T|IL32_ENST00000525643.2_Missense_Mutation_p.P169T|IL32_ENST00000551513.1_Missense_Mutation_p.P206T|IL32_ENST00000552356.1_Missense_Mutation_p.P149T|IL32_ENST00000530538.2_Missense_Mutation_p.P169T|IL32_ENST00000530890.1_Missense_Mutation_p.P149T|IL32_ENST00000529699.1_Missense_Mutation_p.P149T|IL32_ENST00000528163.2_Missense_Mutation_p.P169T|IL32_ENST00000396887.3_Missense_Mutation_p.P112T|IL32_ENST00000548476.1_Missense_Mutation_p.P215T|IL32_ENST00000549213.1_Missense_Mutation_p.P112T|IL32_ENST00000548652.1_Missense_Mutation_p.P160T|IL32_ENST00000396890.2_Missense_Mutation_p.P215T|IL32_ENST00000008180.9_Missense_Mutation_p.P149T|IL32_ENST00000551122.1_Missense_Mutation_p.P112T|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000382213.3_Missense_Mutation_p.P160T|IL32_ENST00000325568.5_Missense_Mutation_p.P169T|IL32_ENST00000552664.1_Missense_Mutation_p.P169T|IL32_ENST00000548246.1_Missense_Mutation_p.P129T|IL32_ENST00000552936.1_Missense_Mutation_p.P193T|IL32_ENST00000526464.2_Missense_Mutation_p.P169T|IL32_ENST00000440815.3_Missense_Mutation_p.P169T|IL32_ENST00000529550.1_Missense_Mutation_p.P169T|IL32_ENST00000533097.2_Missense_Mutation_p.P169T|IL32_ENST00000531965.1_Missense_Mutation_p.P159T			P24001	IL32_HUMAN	interleukin 32	215					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)		p.P169T(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CTACGGAGCCCCACGGGGGGA	0.582																																						ENST00000525643.2																			1	Substitution - Missense(1)	p.P169T(1)	lung(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(505-507)Cca>Aca		interleukin 32							95.0	124.0	114.0					16																	3119294		2197	4300	6497	SO:0001583	missense	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119294C>A	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	ENST00000534507.1:c.643C>A	16.37:g.3119294C>A	ENSP00000431775:p.Pro215Thr		Somatic				IL32_ENST00000548246.1_Missense_Mutation_p.P129T|IL32_ENST00000530890.1_Missense_Mutation_p.P149T|IL32_ENST00000530538.2_Missense_Mutation_p.P169T|IL32_ENST00000548476.1_Missense_Mutation_p.P215T|IL32_ENST00000396890.2_Missense_Mutation_p.P215T|IL32_ENST00000529699.1_Missense_Mutation_p.P149T|IL32_ENST00000526464.2_Missense_Mutation_p.P169T|IL32_ENST00000552664.1_Missense_Mutation_p.P169T|IL32_ENST00000325568.5_Missense_Mutation_p.P169T|IL32_ENST00000531965.1_Missense_Mutation_p.P159T|IL32_ENST00000533097.2_Missense_Mutation_p.P169T|IL32_ENST00000551122.1_Missense_Mutation_p.P112T|IL32_ENST00000396887.3_Missense_Mutation_p.P112T|IL32_ENST00000548652.1_Missense_Mutation_p.P160T|IL32_ENST00000534507.1_Missense_Mutation_p.P215T|IL32_ENST00000552936.1_Missense_Mutation_p.P193T|IL32_ENST00000528163.2_Missense_Mutation_p.P169T|IL32_ENST00000008180.9_Missense_Mutation_p.P149T|IL32_ENST00000551513.1_Missense_Mutation_p.P206T|IL32_ENST00000529550.1_Missense_Mutation_p.P169T|IL32_ENST00000552356.1_Missense_Mutation_p.P149T|IL32_ENST00000440815.3_Missense_Mutation_p.P169T|IL32_ENST00000382213.3_Missense_Mutation_p.P160T|IL32_ENST00000444393.3_Missense_Mutation_p.P169T|IL32_ENST00000549213.1_Missense_Mutation_p.P112T	p.P169T			WXS	Illumina GAIIx	Phase_I	P24001	IL32_HUMAN			7	837	+			215					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Missense_Mutation	SNP	ENST00000534507.1	37	c.505C>A		.	.	.	.	.	.	.	.	.	.	C	4.454	0.084032	0.08583	.	.	ENSG00000008517	ENST00000325568;ENST00000534507;ENST00000531965;ENST00000396887;ENST00000529699;ENST00000526464;ENST00000440815;ENST00000529550;ENST00000551122;ENST00000525643;ENST00000548807;ENST00000528163;ENST00000530890;ENST00000444393;ENST00000533097;ENST00000008180;ENST00000396890;ENST00000548652;ENST00000530538;ENST00000549213;ENST00000552936;ENST00000548476;ENST00000552664;ENST00000552356;ENST00000551513;ENST00000382213;ENST00000548246	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57436	0.42;0.44;0.42;0.4;0.42;0.42;0.42;0.42;0.4;0.42;0.44;0.42;0.43;0.42;0.42;0.43;0.44;0.42;0.42;0.4;0.44;0.44;0.42;0.43;0.44;0.42;0.42	1.71	-0.364	0.12553	.	.	.	.	.	T	0.40694	0.1127	N	0.08118	0	0.09310	N	1	P;P;P;P;P;P;P	0.51449	0.833;0.938;0.938;0.833;0.833;0.938;0.945	B;B;B;B;B;B;P	0.56648	0.151;0.192;0.192;0.197;0.151;0.192;0.803	T	0.26710	-1.0095	9	0.87932	D	0	.	4.0362	0.09730	0.0:0.5866:0.0:0.4134	.	129;149;160;149;215;169;112	B8Q191;C6GKH1;A6NNM0;A8MPX0;P24001;P24001-2;P24001-4	.;.;.;.;IL32_HUMAN;.;.	T	169;215;159;112;149;169;169;169;112;169;215;169;149;169;169;149;215;160;169;112;193;215;169;149;206;160;129	ENSP00000324742:P169T;ENSP00000431775:P215T;ENSP00000433177:P159T;ENSP00000380096:P112T;ENSP00000436937:P149T;ENSP00000450364:P169T;ENSP00000405063:P169T;ENSP00000437020:P169T;ENSP00000447496:P112T;ENSP00000432218:P169T;ENSP00000448354:P215T;ENSP00000432850:P169T;ENSP00000433747:P149T;ENSP00000411958:P169T;ENSP00000432917:P169T;ENSP00000008180:P149T;ENSP00000380099:P215T;ENSP00000446624:P160T;ENSP00000436929:P169T;ENSP00000447812:P112T;ENSP00000447033:P193T;ENSP00000449483:P215T;ENSP00000448683:P169T;ENSP00000446978:P149T;ENSP00000449147:P206T;ENSP00000371648:P160T;ENSP00000447979:P129T	ENSP00000008180:P149T	P	+	1	0	IL32	3059295	0.142000	0.22610	0.000000	0.03702	0.001000	0.01503	0.729000	0.26028	-0.050000	0.13356	0.543000	0.68304	CCA		0.582	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		3	63	1	0	0.184627	1	0.188467	3	63				
ZP2	7783	broad.mit.edu	37	16	21209092	21209092	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:21209092G>A	ENST00000574002.1	-	19	2572	c.2090C>T	c.(2089-2091)tCa>tTa	p.S697L	ZP2_ENST00000574091.1_Missense_Mutation_p.S688L|ZP2_ENST00000219593.4_Missense_Mutation_p.S697L|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	697					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CTTACCTCGTGAGCCAACCTC	0.473																																						ENST00000574002.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41						c.(2089-2091)tCa>tTa		zona pellucida glycoprotein 2 (sperm receptor)							193.0	158.0	170.0					16																	21209092		2200	4300	6500	SO:0001583	missense	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21209092G>A	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.2090C>T	16.37:g.21209092G>A	ENSP00000460971:p.Ser697Leu		Somatic				ZP2_ENST00000219593.4_Missense_Mutation_p.S697L|ZP2_ENST00000574091.1_Missense_Mutation_p.S688L|AF001550.7_ENST00000572747.1_RNA	p.S697L			WXS	Illumina GAIIx	Phase_I	Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	19	2572	-			697					B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	c.2090C>T	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.544451	0.27563	.	.	ENSG00000103310	ENST00000219593	T	0.77489	-1.1	4.36	-4.5	0.03493	.	2.661270	0.01140	N	0.006185	T	0.52256	0.1723	N	0.04203	-0.255	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.41124	-0.9526	10	0.72032	D	0.01	19.2315	0.5547	0.00669	0.3572:0.2627:0.199:0.181	.	688;697	Q4VAP1;Q05996	.;ZP2_HUMAN	L	697	ENSP00000219593:S697L	ENSP00000219593:S697L	S	-	2	0	ZP2	21116593	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.426000	0.02443	-0.823000	0.04301	0.563000	0.77884	TCA		0.473	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			9	518	0	0	0	1	0	9	518				
IQCH	64799	broad.mit.edu	37	15	67677314	67677314	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:67677314C>T	ENST00000335894.4	+	11	1479	c.1413C>T	c.(1411-1413)aaC>aaT	p.N471N	IQCH_ENST00000360277.4_Silent_p.N223N|IQCH_ENST00000546225.1_Silent_p.N219N|IQCH_ENST00000358767.3_Silent_p.N298N	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	471										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CCGATTTCAACACACAGCAGA	0.418																																						ENST00000335894.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33						c.(1411-1413)aaC>aaT		IQ motif containing H							314.0	294.0	301.0					15																	67677314		2201	4299	6500	SO:0001819	synonymous_variant	64799							g.chr15:67677314C>T	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.1413C>T	15.37:g.67677314C>T			Somatic				IQCH_ENST00000546225.1_Silent_p.N219N|IQCH_ENST00000358767.3_Silent_p.N298N|IQCH_ENST00000360277.4_Silent_p.N223N	p.N471N	NM_001031715.2	NP_001026885.1	WXS	Illumina GAIIx	Phase_I	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	11	1479	+			471					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Silent	SNP	ENST00000335894.4	37	c.1413C>T	CCDS32273.1																																																																																				0.418	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		4	245	0	0	0	1	0	4	245				
MED17	9440	broad.mit.edu	37	11	93542882	93542882	+	Splice_Site	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:93542882G>T	ENST00000251871.3	+	11	1871		c.e11-1		MED17_ENST00000533367.1_Splice_Site	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17						androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTCATTCACAGATGTCACAGC	0.463																																						ENST00000251871.3																			0				large_intestine(2)|lung(11)|ovary(1)	14						c.e11-1		mediator complex subunit 17							174.0	149.0	157.0					11																	93542882		2201	4298	6499	SO:0001630	splice_region_variant	9440				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr11:93542882G>T	AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"""cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)"", ""cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"""	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.1585-1G>T	11.37:g.93542882G>T			Somatic				MED17_ENST00000533367.1_Splice_Site		NM_004268.4	NP_004259.3	WXS	Illumina GAIIx	Phase_I	Q9NVC6	MED17_HUMAN			11	1871	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)						B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Splice_Site	SNP	ENST00000251871.3	37		CCDS8295.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041222	0.75732	.	.	ENSG00000042429	ENST00000251871;ENST00000427225	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0822	0.97779	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MED17	93182530	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	9.719000	0.98760	2.826000	0.97356	0.563000	0.77884	.		0.463	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268	Intron	11	153	1	0	1.08611e-07	1	1.2976e-07	11	153				
CNOT7	29883	broad.mit.edu	37	8	17102635	17102635	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:17102635G>T	ENST00000361272.4	-	2	325	c.27C>A	c.(25-27)agC>agA	p.S9R	VPS37A_ENST00000324815.3_5'Flank|VPS37A_ENST00000324849.4_5'Flank|CNOT7_ENST00000523917.1_Missense_Mutation_p.S9R|VPS37A_ENST00000521005.1_5'Flank|CNOT7_ENST00000518885.1_5'UTR|VPS37A_ENST00000521829.1_5'Flank	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	9					carbohydrate metabolic process (GO:0005975)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		AAATTCTTTGGCTATGATCTA	0.383																																						ENST00000361272.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11						c.(25-27)agC>agA		CCR4-NOT transcription complex, subunit 7							60.0	58.0	58.0					8																	17102635		2203	4300	6503	SO:0001583	missense	29883				carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr8:17102635G>T	L46722	CCDS6000.2, CCDS55202.1	8p22-p21.3	2008-08-07			ENSG00000198791	ENSG00000198791			14101	protein-coding gene	gene with protein product	"""BTG1 binding factor 1"""	604913		CAF1		10637334, 1538749, 17264152	Standard	XM_005273481		Approved		uc003wxg.1	Q9UIV1	OTTHUMG00000096971	ENST00000361272.4:c.27C>A	8.37:g.17102635G>T	ENSP00000355279:p.Ser9Arg		Somatic				CNOT7_ENST00000523917.1_Missense_Mutation_p.S9R|CNOT7_ENST00000518885.1_5'UTR	p.S9R	NM_013354.5	NP_037486.2	WXS	Illumina GAIIx	Phase_I	Q9UIV1	CNOT7_HUMAN		Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)	2	325	-			9					A8MZM5|B3KMP1|B3KN35|D3DSP6|G3V108|Q7Z530	Missense_Mutation	SNP	ENST00000361272.4	37	c.27C>A	CCDS6000.2	.	.	.	.	.	.	.	.	.	.	G	15.20	2.761776	0.49468	.	.	ENSG00000198791	ENST00000361272;ENST00000523917;ENST00000524358;ENST00000520178	T;T;T;T	0.51325	0.93;0.93;0.93;0.71	4.77	4.77	0.60923	Ribonuclease H-like (1);	0.039365	0.85682	D	0.000000	T	0.46600	0.1401	L	0.46885	1.475	0.80722	D	1	B;B	0.31383	0.321;0.072	B;B	0.35607	0.206;0.046	T	0.37572	-0.9700	10	0.28530	T	0.3	-4.5659	18.6693	0.91504	0.0:0.0:1.0:0.0	.	9;9	G3V108;Q9UIV1	.;CNOT7_HUMAN	R	9	ENSP00000355279:S9R;ENSP00000429093:S9R;ENSP00000430160:S9R;ENSP00000429079:S9R	ENSP00000355279:S9R	S	-	3	2	CNOT7	17147006	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.393000	0.73217	2.581000	0.87130	0.650000	0.86243	AGC		0.383	CNOT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214038.1	NM_013354		14	83	1	0	3.45872e-05	1	3.9404e-05	14	83				
CEACAM8	1088	broad.mit.edu	37	19	43098946	43098946	+	Missense_Mutation	SNP	C	C	T	rs143763173		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:43098946C>T	ENST00000244336.5	-	1	136	c.35G>A	c.(34-36)cGc>cAc	p.R12H	LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Missense_Mutation_p.R12H|LIPE-AS1_ENST00000594688.1_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	12					immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CCAGGGGATGCGCCATCTGCA	0.612																																						ENST00000244336.5																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16						c.(34-36)cGc>cAc		carcinoembryonic antigen-related cell adhesion molecule 8		C	HIS/ARG	0,4406		0,0,2203	106.0	97.0	100.0		35	-2.9	0.0	19	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense	CEACAM8	NM_001816.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	12/350	43098946	1,13005	2203	4300	6503	SO:0001583	missense	1088				immune response	anchored to membrane|extracellular space|integral to plasma membrane		g.chr19:43098946C>T	D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.35G>A	19.37:g.43098946C>T	ENSP00000244336:p.Arg12His		Somatic				LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Missense_Mutation_p.R12H	p.R12H	NM_001816.3	NP_001807.2	WXS	Illumina GAIIx	Phase_I	P31997	CEAM8_HUMAN			1	136	-		Prostate(69;0.00899)	12					O60399|Q16574	Missense_Mutation	SNP	ENST00000244336.5	37	c.35G>A	CCDS12610.1	.	.	.	.	.	.	.	.	.	.	c	4.281	0.051329	0.08291	0.0	1.16E-4	ENSG00000124469	ENST00000244336	T	0.18657	2.2	1.48	-2.92	0.05615	.	.	.	.	.	T	0.05868	0.0153	N	0.01874	-0.695	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.30621	-0.9972	9	0.33141	T	0.24	.	2.0313	0.03529	0.2556:0.3609:0.0:0.3835	.	12	P31997	CEAM8_HUMAN	H	12	ENSP00000244336:R12H	ENSP00000244336:R12H	R	-	2	0	CEACAM8	47790786	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.006000	0.00650	-0.779000	0.04560	-0.657000	0.03884	CGC		0.612	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1			6	726	0	0	0	1	0	6	726				
CYP2R1	120227	broad.mit.edu	37	11	14900719	14900719	+	Missense_Mutation	SNP	C	C	A	rs199962113		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:14900719C>A	ENST00000334636.5	-	4	1317	c.1271G>T	c.(1270-1272)cGa>cTa	p.R424L	CYP2R1_ENST00000532378.1_Missense_Mutation_p.R191L|CYP2R1_ENST00000526489.1_5'Flank	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	424					small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	GTCCAGAAATCGCTCAGGATG	0.403																																					NSCLC(173;1584 2058 26117 29365 41534)	ENST00000532378.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(571-573)cGa>cTa		cytochrome P450, family 2, subfamily R, polypeptide 1	Cholecalciferol(DB00169)|Ergocalciferol(DB00153)						61.0	60.0	61.0					11																	14900719		2200	4293	6493	SO:0001583	missense	120227				hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity	g.chr11:14900719C>A	AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104		"""Cytochrome P450s"""	20580	protein-coding gene	gene with protein product		608713				12464240, 12867411	Standard	XM_005252788		Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.1271G>T	11.37:g.14900719C>A	ENSP00000334592:p.Arg424Leu		Somatic				CYP2R1_ENST00000334636.5_Missense_Mutation_p.R424L	p.R191L			WXS	Illumina GAIIx	Phase_I	Q6VVX0	CP2R1_HUMAN			5	1426	-			424					Q2M3H3|Q5RT65	Missense_Mutation	SNP	ENST00000334636.5	37	c.572G>T	CCDS7818.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382458	0.82792	.	.	ENSG00000186104	ENST00000532378;ENST00000334636	D;D	0.94184	-3.37;-3.37	5.76	5.76	0.90799	.	0.050057	0.85682	D	0.000000	D	0.97971	0.9332	H	0.95574	3.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98364	1.0550	10	0.87932	D	0	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	424;191	Q6VVX0;E9PJT9	CP2R1_HUMAN;.	L	191;424	ENSP00000435484:R191L;ENSP00000334592:R424L	ENSP00000334592:R424L	R	-	2	0	CYP2R1	14857295	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.797000	0.69087	2.882000	0.98803	0.655000	0.94253	CGA		0.403	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386985.1	NM_024514		61	255	1	0	3.28615e-30	1	4.39897e-30	61	255				
HUWE1	10075	broad.mit.edu	37	X	53560368	53560368	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:53560368T>A	ENST00000342160.3	-	83	13484	c.13027A>T	c.(13027-13029)Aat>Tat	p.N4343Y	HUWE1_ENST00000262854.6_Missense_Mutation_p.N4343Y			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4343	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCCAGCTGATTAAAACTAAGG	0.507																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(13027-13029)Aat>Tat		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							50.0	45.0	47.0					X																	53560368		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53560368T>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.13027A>T	X.37:g.53560368T>A	ENSP00000340648:p.Asn4343Tyr		Somatic				HUWE1_ENST00000262854.6_Missense_Mutation_p.N4343Y	p.N4343Y			WXS	Illumina GAIIx	Phase_I	Q7Z6Z7	HUWE1_HUMAN			83	13484	-			4343			HECT.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.13027A>T	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.17|11.17	1.558593|1.558593	0.27827|0.27827	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.54675|.	0.56;0.56|.	5.3|5.3	5.3|5.3	0.74995|0.74995	HECT (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.84835|.	0.5560|.	M|M	0.93241|0.93241	3.395|3.395	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|.	0.88761|.	0.3257|.	10|.	0.87932|.	D|.	0|.	.|.	13.4066|13.4066	0.60917|0.60917	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	4343;4327|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	Y|L	4343|3376;1165	ENSP00000340648:N4343Y;ENSP00000262854:N4343Y|.	ENSP00000262854:N4343Y|.	N|X	-|-	1|2	0|2	HUWE1|HUWE1	53577093|53577093	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	7.296000|7.296000	0.78790|0.78790	1.877000|1.877000	0.54381|0.54381	0.417000|0.417000	0.27973|0.27973	AAT|TAA		0.507	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		5	163	0	0	0	1	0	5	163				
SLC35B4	84912	broad.mit.edu	37	7	133985015	133985015	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:133985015T>A	ENST00000378509.4	-	7	787		c.e7-2			NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN	solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4						carbohydrate transport (GO:0008643)|regulation of gluconeogenesis (GO:0006111)|transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine transport (GO:0015788)|UDP-xylose transport (GO:0015790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)|UDP-xylose transmembrane transporter activity (GO:0005464)			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						CCCCAATACCTAAAAAACAAA	0.378																																						ENST00000378509.4																			0				large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						c.e7-2		solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4							99.0	93.0	95.0					7																	133985015		2203	4300	6503	SO:0001630	splice_region_variant	84912					Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity	g.chr7:133985015T>A	AB052892	CCDS34756.1	7q33	2013-07-17	2013-07-17		ENSG00000205060	ENSG00000205060		"""Solute carriers"""	20584	protein-coding gene	gene with protein product		610923	"""solute carrier family 35, member B4"""				Standard	NM_032826		Approved	FLJ14697, YEA4	uc003vrn.3	Q969S0	OTTHUMG00000155321	ENST00000378509.4:c.488-2A>T	7.37:g.133985015T>A			Somatic						NM_032826.4	NP_116215.1	WXS	Illumina GAIIx	Phase_I	Q969S0	S35B4_HUMAN			7	787	-								A4D1P3|A6NNS4|Q53GQ7|Q8TCU7|Q96K33	Splice_Site	SNP	ENST00000378509.4	37		CCDS34756.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.479594	0.84747	.	.	ENSG00000205060	ENST00000378509	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7756	0.78214	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC35B4	133635555	1.000000	0.71417	0.993000	0.49108	0.859000	0.49053	7.927000	0.87577	2.214000	0.71695	0.528000	0.53228	.		0.378	SLC35B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339444.2	NM_032826	Intron	7	250	0	0	0	1	0	7	250				
SST	6750	broad.mit.edu	37	3	187386955	187386955	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:187386955C>T	ENST00000287641.3	-	2	356	c.249G>A	c.(247-249)agG>agA	p.R83R		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	83					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hyperosmotic response (GO:0006972)|negative regulation of cell proliferation (GO:0008285)|regulation of cell migration (GO:0030334)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to heat (GO:0009408)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Cysteamine(DB00847)	GCAGCTCAAGCCTCATTTCAT	0.517																																						ENST00000287641.3																			0				kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9						c.(247-249)agG>agA		somatostatin	Bromocriptine(DB01200)|Cysteamine(DB00847)						266.0	249.0	255.0					3																	187386955		2203	4300	6503	SO:0001819	synonymous_variant	6750				digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity	g.chr3:187386955C>T		CCDS3288.1	3q28	2013-02-28			ENSG00000157005	ENSG00000157005		"""Endogenous ligands"""	11329	protein-coding gene	gene with protein product	"""somatostatin-14"", ""somatostatin-28"", ""prepro-somatostatin"""	182450				6126875, 6142531	Standard	NM_001048		Approved	SMST	uc003frn.3	P61278	OTTHUMG00000156462	ENST00000287641.3:c.249G>A	3.37:g.187386955C>T			Somatic					p.R83R	NM_001048.3	NP_001039.1	WXS	Illumina GAIIx	Phase_I	P61278	SMS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	2	356	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		83					B2R5G3|P01166	Silent	SNP	ENST00000287641.3	37	c.249G>A	CCDS3288.1																																																																																				0.517	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344278.1	NM_001048		11	1405	0	0	0	1	0	11	1405				
ZNF451	26036	broad.mit.edu	37	6	57013287	57013287	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:57013287G>T	ENST00000370706.4	+	10	2648	c.2404G>T	c.(2404-2406)Gag>Tag	p.E802*	ZNF451_ENST00000357489.3_Nonsense_Mutation_p.E802*|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|ZNF451_ENST00000491832.2_Nonsense_Mutation_p.E802*|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	802					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TCATGATCCTGAGAGTGCACA	0.423																																						ENST00000370706.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(2404-2406)Gag>Tag		zinc finger protein 451							114.0	105.0	108.0					6																	57013287		2203	4300	6503	SO:0001587	stop_gained	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57013287G>T	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2404G>T	6.37:g.57013287G>T	ENSP00000359740:p.Glu802*		Somatic				RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Nonsense_Mutation_p.E802*|RP11-203B9.4_ENST00000592500.1_RNA|ZNF451_ENST00000491832.2_Nonsense_Mutation_p.E802*|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA	p.E802*	NM_001031623.2	NP_001026794.1	WXS	Illumina GAIIx	Phase_I	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		10	2648	+	Lung NSC(77;0.145)		802					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Nonsense_Mutation	SNP	ENST00000370706.4	37	c.2404G>T	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	G	39	7.425422	0.98275	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	.	.	.	5.32	5.32	0.75619	.	0.237591	0.42420	D	0.000718	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-5.2684	11.4125	0.49933	0.0:0.1426:0.7264:0.131	.	.	.	.	X	802	.	ENSP00000350083:E802X	E	+	1	0	ZNF451	57121246	0.881000	0.30235	0.997000	0.53966	0.964000	0.63967	0.917000	0.28665	2.645000	0.89757	0.650000	0.86243	GAG		0.423	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		3	63	1	0	0.004672	1	0.0050124	3	63				
GRIA1	2890	broad.mit.edu	37	5	153190646	153190646	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:153190646G>A	ENST00000285900.5	+	16	2925	c.2582G>A	c.(2581-2583)cGc>cAc	p.R861H	GRIA1_ENST00000518142.1_Missense_Mutation_p.R781H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R792H|GRIA1_ENST00000340592.5_Missense_Mutation_p.R861H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R871H|GRIA1_ENST00000518783.1_Missense_Mutation_p.R871H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	861					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	ACCCTCCCCCGCAACAGCGGG	0.592																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2581-2583)cGc>cAc		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						45.0	50.0	48.0					5																	153190646		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153190646G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2582G>A	5.37:g.153190646G>A	ENSP00000285900:p.Arg861His		Somatic				GRIA1_ENST00000340592.5_Missense_Mutation_p.R861H|GRIA1_ENST00000518142.1_Missense_Mutation_p.R781H|GRIA1_ENST00000518783.1_Missense_Mutation_p.R871H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R792H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R871H	p.R861H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	WXS	Illumina GAIIx	Phase_I	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		16	2925	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	861					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2582G>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950626	0.92660	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.12984	2.68;2.63;2.68;2.63;2.63;2.67;2.67	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.20941	0.0504	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.998;0.996;0.999;0.996	P;P;P;P;P	0.62014	0.791;0.791;0.572;0.897;0.572	T	0.09618	-1.0666	10	0.87932	D	0	.	17.6489	0.88157	0.0:0.0:1.0:0.0	.	871;871;781;861;861	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	H	861;861;781;861;794;792;871;871	ENSP00000285900:R861H;ENSP00000427920:R781H;ENSP00000339343:R861H;ENSP00000427864:R794H;ENSP00000442108:R792H;ENSP00000428994:R871H;ENSP00000415569:R871H	ENSP00000285900:R861H	R	+	2	0	GRIA1	153170839	1.000000	0.71417	0.919000	0.36401	0.877000	0.50540	9.200000	0.95010	2.399000	0.81585	0.655000	0.94253	CGC		0.592	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			9	29	0	0	0	1	0	9	29				
RGPD3	653489	broad.mit.edu	37	2	107050819	107050819	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:107050819C>A	ENST00000409886.3	-	15	2157	c.2070G>T	c.(2068-2070)agG>agT	p.R690S	RGPD3_ENST00000304514.7_Missense_Mutation_p.R690S	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	690					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTTCTGCCTTCCTGTGAAAAA	0.368																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2068-2070)agG>agT		RANBP2-like and GRIP domain containing 3							91.0	68.0	75.0					2																	107050819		692	1591	2283	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107050819C>A		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2070G>T	2.37:g.107050819C>A	ENSP00000386588:p.Arg690Ser		Somatic				RGPD3_ENST00000304514.7_Missense_Mutation_p.R690S	p.R690S	NM_001144013.1	NP_001137485.1	WXS	Illumina GAIIx	Phase_I	A6NKT7	RGPD3_HUMAN			15	2157	-			690					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2070G>T	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	7.807	0.714905	0.15306	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.21031	2.03;2.03	2.53	-0.16	0.13375	.	.	.	.	.	T	0.35393	0.0930	M	0.67953	2.075	0.27326	N	0.956897	P	0.51653	0.947	D	0.67231	0.95	T	0.20107	-1.0285	9	0.72032	D	0.01	-7.4853	3.1102	0.06356	0.2115:0.5383:0.0:0.2502	.	690	A6NKT7	RGPD3_HUMAN	S	690;448;690	ENSP00000386588:R690S;ENSP00000303659:R690S	ENSP00000303659:R690S	R	-	3	2	RGPD3	106417251	0.998000	0.40836	0.998000	0.56505	0.593000	0.36681	0.308000	0.19314	-0.203000	0.10251	0.194000	0.17425	AGG		0.368	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		5	60	1	0	0.248553	1	0.251975	5	60				
DGKI	9162	broad.mit.edu	37	7	137237231	137237231	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:137237231C>T	ENST00000288490.5	-	20	2031	c.2031G>A	c.(2029-2031)atG>atA	p.M677I	DGKI_ENST00000424189.2_Missense_Mutation_p.M677I|DGKI_ENST00000446122.1_Missense_Mutation_p.M677I|DGKI_ENST00000453654.2_Missense_Mutation_p.M377I	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	677					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CATCCACTTGCATGGGGATGG	0.517																																						ENST00000453654.1																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(1129-1131)atG>atA		diacylglycerol kinase, iota							142.0	134.0	137.0					7																	137237231		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137237231C>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2031G>A	7.37:g.137237231C>T	ENSP00000288490:p.Met677Ile		Somatic				DGKI_ENST00000424189.2_Missense_Mutation_p.M677I|DGKI_ENST00000446122.1_Missense_Mutation_p.M677I|DGKI_ENST00000288490.5_Missense_Mutation_p.M677I	p.M377I			WXS	Illumina GAIIx	Phase_I	O75912	DGKI_HUMAN			20	1670	-			677			DAGKc.		A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.1131G>A	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706626	0.68615	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.29917	1.55;1.55;1.55	5.44	5.44	0.79542	Diacylglycerol kinase, accessory domain (2);	0.041777	0.85682	D	0.000000	T	0.33585	0.0868	L	0.42581	1.335	0.80722	D	1	B;B	0.29085	0.095;0.232	B;B	0.32393	0.088;0.145	T	0.11941	-1.0567	10	0.62326	D	0.03	.	19.6391	0.95749	0.0:1.0:0.0:0.0	.	377;677	E9PFX6;O75912	.;DGKI_HUMAN	I	377;625;677;677;677	ENSP00000392161:M377I;ENSP00000288490:M677I;ENSP00000399131:M677I	ENSP00000288490:M677I	M	-	3	0	DGKI	136887771	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.824000	0.62701	2.715000	0.92844	0.655000	0.94253	ATG		0.517	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		8	821	0	0	0	1	0	8	821				
FAM122C	159091	broad.mit.edu	37	X	133948805	133948805	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:133948805A>T	ENST00000370784.4	+	2	521	c.115A>T	c.(115-117)Aat>Tat	p.N39Y	FAM122C_ENST00000414371.2_Missense_Mutation_p.N75Y|FAM122C_ENST00000370785.3_Missense_Mutation_p.N39Y|FAM122C_ENST00000445123.1_5'UTR	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	39										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TTTTAGTTTTAATTCACAGGT	0.343																																						ENST00000414371.2																			0				endometrium(2)|kidney(1)|lung(2)	5						c.(223-225)Aat>Tat		family with sequence similarity 122C							70.0	70.0	70.0					X																	133948805		2203	4300	6503	SO:0001583	missense	159091							g.chrX:133948805A>T	BC017868	CCDS14644.1, CCDS55500.1, CCDS55501.1, CCDS76028.1	Xq26.3	2008-02-05	2006-07-11		ENSG00000156500	ENSG00000156500			25202	protein-coding gene	gene with protein product						12477932	Standard	NM_138819		Approved	RP3-473B4.1	uc004exz.2	Q6P4D5	OTTHUMG00000022716	ENST00000370784.4:c.115A>T	X.37:g.133948805A>T	ENSP00000359820:p.Asn39Tyr		Somatic				FAM122C_ENST00000445123.1_5'UTR|FAM122C_ENST00000370785.3_Missense_Mutation_p.N39Y|FAM122C_ENST00000370784.4_Missense_Mutation_p.N39Y	p.N75Y	NM_001170780.1|NM_001170784.1	NP_001164251.1|NP_001164255.1	WXS	Illumina GAIIx	Phase_I	Q6P4D5	F222C_HUMAN			4	396	+	Acute lymphoblastic leukemia(192;0.000127)		39					F5H036|Q8WVK9	Missense_Mutation	SNP	ENST00000370784.4	37	c.223A>T	CCDS55501.1	.	.	.	.	.	.	.	.	.	.	a	3.108	-0.183211	0.06340	.	.	ENSG00000156500	ENST00000414371;ENST00000370784;ENST00000370785	T;T;T	0.56103	0.48;0.48;0.48	5.33	1.48	0.22813	.	0.150932	0.64402	D	0.000020	T	0.58793	0.2147	L	0.49778	1.585	0.29605	N	0.847369	D;D;D;D	0.89917	1.0;0.996;0.999;0.999	D;D;D;D	0.76071	0.986;0.952;0.987;0.987	T	0.55010	-0.8207	10	0.66056	D	0.02	-4.9597	4.0562	0.09818	0.6328:0.1757:0.1915:0.0	.	75;39;39;39	F5H036;Q6P4D5;Q6P4D5-2;Q6P187	.;F222C_HUMAN;.;.	Y	75;39;39	ENSP00000402477:N75Y;ENSP00000359820:N39Y;ENSP00000359821:N39Y	ENSP00000359820:N39Y	N	+	1	0	FAM122C	133776471	0.994000	0.37717	0.001000	0.08648	0.043000	0.13939	0.822000	0.27352	-0.067000	0.12976	0.466000	0.42574	AAT		0.343	FAM122C-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_138819		10	109	0	0	0	1	0	10	109				
OSBPL3	26031	broad.mit.edu	37	7	24854824	24854824	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:24854824T>A	ENST00000313367.2	-	19	2479		c.e19-2		OSBPL3_ENST00000352860.1_Splice_Site|OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000396431.1_Splice_Site|OSBPL3_ENST00000487020.1_5'Flank|OSBPL3_ENST00000409069.1_Splice_Site|OSBPL3_ENST00000353930.1_Splice_Site|OSBPL3_ENST00000396429.1_Splice_Site	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3						lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TCCCCAAAACTAAAAAGAAGG	0.378																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.e19-2		oxysterol binding protein-like 3							72.0	71.0	71.0					7																	24854824		2203	4300	6503	SO:0001630	splice_region_variant	26031				lipid transport		lipid binding|protein binding	g.chr7:24854824T>A	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.2028-2A>T	7.37:g.24854824T>A			Somatic				OSBPL3_ENST00000409069.1_Splice_Site|OSBPL3_ENST00000396431.1_Splice_Site|OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000396429.1_Splice_Site|OSBPL3_ENST00000353930.1_Splice_Site|OSBPL3_ENST00000352860.1_Splice_Site		NM_015550.2	NP_056365.1	WXS	Illumina GAIIx	Phase_I	Q9H4L5	OSBL3_HUMAN			19	2479	-								A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Splice_Site	SNP	ENST00000313367.2	37		CCDS5390.1	.	.	.	.	.	.	.	.	.	.	T	28.2	4.899311	0.91962	.	.	ENSG00000070882	ENST00000313367;ENST00000352860;ENST00000353930;ENST00000431825;ENST00000396431;ENST00000396429;ENST00000409069	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.387	0.66953	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	OSBPL3	24821349	1.000000	0.71417	0.111000	0.21465	0.961000	0.63080	8.037000	0.88933	1.876000	0.54355	0.379000	0.24179	.		0.378	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2		Intron	12	215	0	0	0	1	0	12	215				
TMTC4	84899	broad.mit.edu	37	13	101294527	101294527	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr13:101294527G>T	ENST00000376234.3	-	6	811	c.622C>A	c.(622-624)Ctg>Atg	p.L208M	TMTC4_ENST00000342624.5_Missense_Mutation_p.L227M|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Missense_Mutation_p.L97M	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	208						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ATACTCAGCAGCACCCAGAAG	0.502																																						ENST00000342624.5																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(679-681)Ctg>Atg		transmembrane and tetratricopeptide repeat containing 4							133.0	145.0	141.0					13																	101294527		2069	4202	6271	SO:0001583	missense	84899					integral to membrane	binding	g.chr13:101294527G>T		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.622C>A	13.37:g.101294527G>T	ENSP00000365408:p.Leu208Met		Somatic				TMTC4_ENST00000328767.5_Missense_Mutation_p.L97M|TMTC4_ENST00000376234.3_Missense_Mutation_p.L208M|TMTC4_ENST00000462211.1_5'UTR	p.L227M	NM_032813.2	NP_116202.2	WXS	Illumina GAIIx	Phase_I	Q5T4D3	TMTC4_HUMAN			7	937	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		208					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	c.679C>A	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920663	0.33908	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.63580	-0.05;-0.05;0.83	5.72	0.219	0.15274	.	0.347229	0.30762	N	0.008934	T	0.46908	0.1417	L	0.47716	1.5	0.35186	D	0.77294	B;B;B	0.32731	0.126;0.073;0.382	B;B;B	0.34931	0.049;0.043;0.192	T	0.43702	-0.9375	10	0.46703	T	0.11	.	2.0726	0.03617	0.4265:0.1281:0.3195:0.1259	.	97;208;227	B7Z666;Q5T4D3;Q5T4D3-3	.;TMTC4_HUMAN;.	M	208;227;97	ENSP00000365408:L208M;ENSP00000343871:L227M;ENSP00000365409:L97M	ENSP00000365409:L97M	L	-	1	2	TMTC4	100092528	0.004000	0.15560	0.997000	0.53966	0.976000	0.68499	-0.083000	0.11286	0.114000	0.18032	0.563000	0.77884	CTG		0.502	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		40	152	1	0	4.45467e-35	1	6.01789e-35	40	152				
MTCL1	23255	broad.mit.edu	37	18	8825455	8825455	+	Missense_Mutation	SNP	C	C	A	rs375774425		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:8825455C>A	ENST00000306329.11	+	13	4904	c.4904C>A	c.(4903-4905)aCg>aAg	p.T1635K	SOGA2_ENST00000517570.1_Missense_Mutation_p.T1275K|SOGA2_ENST00000400050.3_Missense_Mutation_p.T1275K|SOGA2_ENST00000306285.7_Missense_Mutation_p.T641K|SOGA2_ENST00000518815.1_Missense_Mutation_p.T641K|SOGA2_ENST00000359865.3_Missense_Mutation_p.T1316K																							GGGTCCCGGACGATGGGGACC	0.612																																						ENST00000359865.3																			0											c.(3946-3948)aCg>aAg		SOGA family member 2							34.0	34.0	34.0					18																	8825455		2203	4299	6502	SO:0001583	missense	23255							g.chr18:8825455C>A																												ENST00000306329.11:c.4904C>A	18.37:g.8825455C>A	ENSP00000305027:p.Thr1635Lys		Somatic				SOGA2_ENST00000518815.1_Missense_Mutation_p.T641K|SOGA2_ENST00000306285.7_Missense_Mutation_p.T641K|SOGA2_ENST00000400050.3_Missense_Mutation_p.T1275K|SOGA2_ENST00000517570.1_Missense_Mutation_p.T1275K|SOGA2_ENST00000306329.11_Missense_Mutation_p.T1635K	p.T1316K	NM_015210.3	NP_056025.2	WXS	Illumina GAIIx	Phase_I	Q9Y4B5	CC165_HUMAN			15	4089	+			1626						Missense_Mutation	SNP	ENST00000306329.11	37	c.3947C>A		.	.	.	.	.	.	.	.	.	.	C	15.46	2.840397	0.51057	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.24	5.24	0.73138	.	0.285078	0.25490	N	0.030303	T	0.49270	0.1547	M	0.62723	1.935	0.41003	D	0.984943	D;D	0.69078	0.988;0.997	P;P	0.61132	0.753;0.884	T	0.52313	-0.8592	10	0.72032	D	0.01	-11.595	14.4332	0.67264	0.0:0.8527:0.1473:0.0	.	1626;1316	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	K	1337;1275;1316;1275;641	ENSP00000429556:T1275K;ENSP00000352927:T1316K;ENSP00000382924:T1275K;ENSP00000303670:T641K	ENSP00000303670:T641K	T	+	2	0	CCDC165	8815455	0.998000	0.40836	0.980000	0.43619	0.951000	0.60555	3.813000	0.55636	2.448000	0.82819	0.655000	0.94253	ACG		0.612	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			5	26	1	0	0.0215528	1	0.0225882	5	26				
MAP3K13	9175	broad.mit.edu	37	3	185198109	185198109	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:185198109G>C	ENST00000265026.3	+	13	2925	c.2591G>C	c.(2590-2592)aGt>aCt	p.S864T	MAP3K13_ENST00000446828.1_Missense_Mutation_p.S657T|MAP3K13_ENST00000443863.1_Missense_Mutation_p.S720T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.S720T|TMEM41A_ENST00000475480.1_5'UTR|MAP3K13_ENST00000424227.1_Missense_Mutation_p.S864T	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GGAAATACCAGTGACCACTCA	0.488																																						ENST00000265026.3																			0				NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2590-2592)aGt>aCt		mitogen-activated protein kinase kinase kinase 13							100.0	98.0	99.0					3																	185198109		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185198109G>C	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.2591G>C	3.37:g.185198109G>C	ENSP00000265026:p.Ser864Thr		Somatic				TMEM41A_ENST00000475480.1_5'UTR|MAP3K13_ENST00000446828.1_Missense_Mutation_p.S657T|MAP3K13_ENST00000443863.1_Missense_Mutation_p.S720T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.S720T|MAP3K13_ENST00000424227.1_Missense_Mutation_p.S864T	p.S864T	NM_004721.4	NP_004712.1	WXS	Illumina GAIIx	Phase_I	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		13	2925	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		864						Missense_Mutation	SNP	ENST00000265026.3	37	c.2591G>C	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.289597	0.80914	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.22975	0.0555	N	0.12182	0.205	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.78314	0.991;0.991;0.98	T	0.13683	-1.0500	10	0.39692	T	0.17	.	19.8657	0.96803	0.0:0.0:1.0:0.0	.	720;657;864	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	T	657;864;720;720;864	ENSP00000411483:S657T;ENSP00000399910:S864T;ENSP00000409325:S720T;ENSP00000439257:S720T;ENSP00000265026:S864T	ENSP00000265026:S864T	S	+	2	0	MAP3K13	186680803	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	9.804000	0.99143	2.686000	0.91538	0.655000	0.94253	AGT		0.488	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		4	130	0	0	0	1	0	4	130				
OR52K2	119774	broad.mit.edu	37	11	4471128	4471128	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:4471128G>A	ENST00000325719.4	+	1	604	c.559G>A	c.(559-561)Gtg>Atg	p.V187M		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATGGCTGTGGTGAGGCTGGC	0.522																																						ENST00000325719.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25						c.(559-561)Gtg>Atg		olfactory receptor, family 52, subfamily K, member 2							289.0	222.0	244.0					11																	4471128		2201	4298	6499	SO:0001583	missense	119774				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4471128G>A	AB065791	CCDS31351.1	11p15.4	2012-08-09			ENSG00000181963	ENSG00000181963		"""GPCR / Class A : Olfactory receptors"""	15223	protein-coding gene	gene with protein product							Standard	NM_001005172		Approved		uc001lyz.2	Q8NGK3	OTTHUMG00000165703	ENST00000325719.4:c.559G>A	11.37:g.4471128G>A	ENSP00000318956:p.Val187Met		Somatic					p.V187M	NM_001005172.2	NP_001005172.2	WXS	Illumina GAIIx	Phase_I	Q8NGK3	O52K2_HUMAN		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	604	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	187					A8MUY8|B2RP35|Q6IFK4	Missense_Mutation	SNP	ENST00000325719.4	37	c.559G>A	CCDS31351.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371677	0.42003	.	.	ENSG00000181963	ENST00000325719	T	0.00158	8.65	4.0	4.0	0.46444	GPCR, rhodopsin-like superfamily (1);	0.179749	0.26467	N	0.024201	T	0.00271	0.0008	L	0.38531	1.155	0.25736	N	0.98521	D	0.89917	1.0	D	0.91635	0.999	T	0.57271	-0.7840	10	0.87932	D	0	.	8.8232	0.35039	0.1068:0.0:0.8932:0.0	.	187	Q8NGK3	O52K2_HUMAN	M	187	ENSP00000318956:V187M	ENSP00000318956:V187M	V	+	1	0	OR52K2	4427704	0.002000	0.14202	0.998000	0.56505	0.913000	0.54294	-0.126000	0.10563	2.054000	0.61138	0.485000	0.47835	GTG		0.522	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385844.1	NM_001005172		5	400	0	0	0	1	0	5	400				
OR4A47	403253	broad.mit.edu	37	11	48511107	48511107	+	Missense_Mutation	SNP	A	A	T	rs200616857		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:48511107A>T	ENST00000446524.1	+	1	839	c.763A>T	c.(763-765)Atg>Ttg	p.M255L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TTGTATTTTTATGTATGCTAG	0.428																																						ENST00000446524.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(763-765)Atg>Ttg		olfactory receptor, family 4, subfamily A, member 47							213.0	206.0	208.0					11																	48511107		2201	4298	6499	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48511107A>T	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.763A>T	11.37:g.48511107A>T	ENSP00000412752:p.Met255Leu		Somatic					p.M255L	NM_001005512.2	NP_001005512.2	WXS	Illumina GAIIx	Phase_I	Q6IF82	O4A47_HUMAN			1	839	+			255						Missense_Mutation	SNP	ENST00000446524.1	37	c.763A>T	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	2.307	-0.358736	0.05138	.	.	ENSG00000237388	ENST00000446524	T	0.00115	8.71	4.59	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.173909	0.40728	N	0.001040	T	0.00109	0.0003	N	0.16790	0.44	0.09310	N	1	B	0.19331	0.035	B	0.20955	0.032	T	0.04216	-1.0968	10	0.17369	T	0.5	.	8.5275	0.33313	0.9019:0.0:0.0981:0.0	.	255	Q6IF82	O4A47_HUMAN	L	255	ENSP00000412752:M255L	ENSP00000412752:M255L	M	+	1	0	OR4A47	48467683	0.000000	0.05858	0.998000	0.56505	0.282000	0.26991	0.172000	0.16704	1.692000	0.51112	0.172000	0.16884	ATG		0.428	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		10	957	0	0	0	1	0	10	957				
TCHH	7062	broad.mit.edu	37	1	152081372	152081372	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:152081372G>A	ENST00000368804.1	-	2	4320	c.4321C>T	c.(4321-4323)Cgc>Tgc	p.R1441C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1441	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTTCCTGGCGGCGCACCTGC	0.577											OREG0031687	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)																										ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(4321-4323)Cgc>Tgc		trichohyalin							93.0	92.0	92.0					1																	152081372		1902	4109	6011	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152081372G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4321C>T	1.37:g.152081372G>A	ENSP00000357794:p.Arg1441Cys		Somatic	OREG0031687	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	1745		p.R1441C	NM_007113.2	NP_009044.2	WXS	Illumina GAIIx	Phase_I	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4320	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1441			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.4321C>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	g	9.643	1.139571	0.21205	.	.	ENSG00000159450	ENST00000368804	T	0.05580	3.42	4.28	2.11	0.27256	.	.	.	.	.	T	0.04497	0.0123	N	0.22421	0.69	0.09310	N	1	D	0.76494	0.999	P	0.58928	0.848	T	0.43130	-0.9410	9	0.59425	D	0.04	.	9.0513	0.36378	0.0:0.0:0.6814:0.3186	.	1441	Q07283	TRHY_HUMAN	C	1441	ENSP00000357794:R1441C	ENSP00000357794:R1441C	R	-	1	0	TCHH	150347996	0.000000	0.05858	0.004000	0.12327	0.071000	0.16799	-0.147000	0.10234	1.939000	0.56221	0.514000	0.50259	CGC		0.577	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		4	120	0	0	0	1	0	4	120				
NELL2	4753	broad.mit.edu	37	12	45000995	45000995	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:45000995C>T	ENST00000429094.2	-	15	2124	c.1620G>A	c.(1618-1620)gtG>gtA	p.V540V	NELL2_ENST00000452445.2_Silent_p.V540V|NELL2_ENST00000395487.2_Silent_p.V539V|NELL2_ENST00000551601.1_Silent_p.V539V|NELL2_ENST00000333837.4_Silent_p.V563V|NELL2_ENST00000437801.2_Silent_p.V590V|NELL2_ENST00000549027.1_Silent_p.V539V	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	540	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GGCAGGCACACACATTAGCGG	0.383																																						ENST00000429094.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(1618-1620)gtG>gtA		NEL-like 2 (chicken)							88.0	84.0	85.0					12																	45000995		2203	4299	6502	SO:0001819	synonymous_variant	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45000995C>T	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1620G>A	12.37:g.45000995C>T			Somatic				NELL2_ENST00000437801.2_Silent_p.V590V|NELL2_ENST00000395487.2_Silent_p.V539V|NELL2_ENST00000452445.2_Silent_p.V540V|NELL2_ENST00000333837.4_Silent_p.V563V|NELL2_ENST00000551601.1_Silent_p.V539V|NELL2_ENST00000549027.1_Silent_p.V539V	p.V540V	NM_001145108.1	NP_001138580.1	WXS	Illumina GAIIx	Phase_I	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	15	2124	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	540			EGF-like 4.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000429094.2	37	c.1620G>A	CCDS8746.1																																																																																				0.383	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		23	71	0	0	0	1	0	23	71				
PKHD1L1	93035	broad.mit.edu	37	8	110535099	110535099	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:110535099G>T	ENST00000378402.5	+	75	12414	c.12310G>T	c.(12310-12312)Gta>Tta	p.V4104L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4104					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCAGCCTTCGGTAAAGGCAAC	0.458										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(12310-12312)Gta>Tta		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							41.0	45.0	44.0					8																	110535099		2170	4283	6453	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110535099G>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.12310G>T	8.37:g.110535099G>T	ENSP00000367655:p.Val4104Leu	HNSCC(38;0.096)	Somatic					p.V4104L	NM_177531.4	NP_803875.2	WXS	Illumina GAIIx	Phase_I	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		75	12414	+			4104					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.12310G>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	4.760	0.141299	0.09083	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.85484	-1.99;-1.9	5.96	3.95	0.45737	.	0.285739	0.33670	N	0.004672	T	0.74261	0.3693	L	0.35487	1.065	0.24406	N	0.994681	B	0.17268	0.021	B	0.11329	0.006	T	0.57493	-0.7802	10	0.18710	T	0.47	.	8.464	0.32944	0.221:0.0:0.779:0.0	.	4104	Q86WI1	PKHL1_HUMAN	L	4104;1032	ENSP00000367655:V4104L;ENSP00000437376:V1032L	ENSP00000367655:V4104L	V	+	1	0	PKHD1L1	110604275	0.001000	0.12720	1.000000	0.80357	0.956000	0.61745	-0.205000	0.09411	1.532000	0.49169	0.650000	0.86243	GTA		0.458	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		11	69	1	0	3.99206e-14	1	5.11157e-14	11	69				
SCN11A	11280	broad.mit.edu	37	3	38941494	38941494	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:38941494C>T	ENST00000302328.3	-	13	2111	c.1913G>A	c.(1912-1914)cGc>cAc	p.R638H	SCN11A_ENST00000450244.1_Missense_Mutation_p.R638H|SCN11A_ENST00000456224.3_Missense_Mutation_p.R638H|SCN11A_ENST00000444237.2_Missense_Mutation_p.R638H	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	638					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCAGCCTCGGCGAAAGTAGTG	0.423																																						ENST00000302328.3																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(1912-1914)cGc>cAc		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						89.0	87.0	87.0					3																	38941494		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38941494C>T	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.1913G>A	3.37:g.38941494C>T	ENSP00000307599:p.Arg638His		Somatic				SCN11A_ENST00000444237.2_Missense_Mutation_p.R638H|SCN11A_ENST00000456224.3_Missense_Mutation_p.R638H|SCN11A_ENST00000450244.1_Missense_Mutation_p.R638H	p.R638H	NM_014139.2	NP_054858.2	WXS	Illumina GAIIx	Phase_I	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	13	2111	-			638					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.1913G>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602667	0.46423	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98901	-5.22;-5.22;-5.22;-5.22	5.65	0.513	0.17000	Ion transport (1);	0.493796	0.23579	N	0.046672	D	0.96374	0.8817	M	0.63428	1.95	0.19575	N	0.999969	B	0.22346	0.068	B	0.17722	0.019	D	0.92693	0.6168	10	0.87932	D	0	.	5.5355	0.17009	0.1296:0.4069:0.0:0.4636	.	638	Q9UI33	SCNBA_HUMAN	H	638	ENSP00000307599:R638H;ENSP00000400945:R638H;ENSP00000416757:R638H;ENSP00000408028:R638H	ENSP00000307599:R638H	R	-	2	0	SCN11A	38916498	0.003000	0.15002	0.020000	0.16555	0.989000	0.77384	0.078000	0.14761	0.136000	0.18733	0.650000	0.86243	CGC		0.423	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		4	183	0	0	0	1	0	4	183				
TENM1	10178	broad.mit.edu	37	X	124097418	124097418	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:124097418C>T	ENST00000371130.3	-	1	248	c.185G>A	c.(184-186)aGa>aAa	p.R62K	TENM1_ENST00000422452.2_Missense_Mutation_p.R62K	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	62	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TTTCCTCTTTCTACTCTGGCT	0.368																																						ENST00000422452.2																			0											c.(184-186)aGa>aAa		teneurin transmembrane protein 1							229.0	213.0	219.0					X																	124097418		2203	4300	6503	SO:0001583	missense	10178							g.chrX:124097418C>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.185G>A	X.37:g.124097418C>T	ENSP00000360171:p.Arg62Lys		Somatic				TENM1_ENST00000371130.3_Missense_Mutation_p.R62K	p.R62K	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1	WXS	Illumina GAIIx	Phase_I					1	248	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.185G>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	4.175	0.031135	0.08101	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.25085	1.82;1.82	5.78	4.92	0.64577	Teneurin intracellular, N-terminal (2);	0.288046	0.34362	N	0.004031	T	0.13157	0.0319	N	0.12182	0.205	0.35995	D	0.836999	B;B;B	0.09022	0.002;0.002;0.0	B;B;B	0.10450	0.005;0.005;0.001	T	0.12344	-1.0551	10	0.02654	T	1	.	13.7327	0.62799	0.0:0.9243:0.0:0.0757	.	62;62;62	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	K	62	ENSP00000360171:R62K;ENSP00000403954:R62K	ENSP00000360171:R62K	R	-	2	0	ODZ1	123925099	1.000000	0.71417	0.874000	0.34290	0.818000	0.46254	2.428000	0.44749	1.178000	0.42870	0.600000	0.82982	AGA		0.368	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		5	321	0	0	0	1	0	5	321				
ATXN7L2	127002	broad.mit.edu	37	1	110032907	110032907	+	Silent	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:110032907G>T	ENST00000369870.3	+	9	1266	c.1251G>T	c.(1249-1251)ggG>ggT	p.G417G		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	417										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCACCTTTGGGAGCCGGCTGG	0.597											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369870.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17						c.(1249-1251)ggG>ggT		ataxin 7-like 2							104.0	94.0	97.0					1																	110032907		2203	4300	6503	SO:0001819	synonymous_variant	127002							g.chr1:110032907G>T	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.1251G>T	1.37:g.110032907G>T			Somatic	OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1424		p.G417G	NM_153340.4	NP_699171.3	WXS	Illumina GAIIx	Phase_I	Q5T6C5	AT7L2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)	9	1266	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	417						Silent	SNP	ENST00000369870.3	37	c.1251G>T	CCDS30794.1																																																																																				0.597	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		3	61	1	0	2.0095e-06	1	2.36719e-06	3	61				
NUP188	23511	broad.mit.edu	37	9	131733230	131733230	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:131733230G>T	ENST00000372577.2	+	11	1127	c.1106G>T	c.(1105-1107)gGa>gTa	p.G369V		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	369					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GCCAGTGGGGGAAATGATGTG	0.488																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(1105-1107)gGa>gTa		nucleoporin 188kDa							114.0	108.0	110.0					9																	131733230		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131733230G>T	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.1106G>T	9.37:g.131733230G>T	ENSP00000361658:p.Gly369Val		Somatic					p.G369V	NM_015354.1	NP_056169.1	WXS	Illumina GAIIx	Phase_I	Q5SRE5	NU188_HUMAN			11	1127	+			369					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.1106G>T	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296715	0.81025	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.66280	-0.2	5.5	5.5	0.81552	.	0.049660	0.85682	D	0.000000	T	0.65281	0.2676	N	0.24115	0.695	0.80722	D	1	D	0.63046	0.992	D	0.67548	0.952	T	0.68334	-0.5436	10	0.72032	D	0.01	2.4934	11.8056	0.52152	0.0799:0.0:0.9201:0.0	.	369	Q5SRE5	NU188_HUMAN	V	258;369	ENSP00000361658:G369V	ENSP00000349125:G258V	G	+	2	0	NUP188	130773051	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.584000	0.82572	2.585000	0.87301	0.462000	0.41574	GGA		0.488	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			19	377	1	0	3.62473e-10	1	4.48523e-10	19	377				
FYB	2533	broad.mit.edu	37	5	39153708	39153708	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:39153708T>A	ENST00000351578.6	-	3	1326		c.e3-2		FYB_ENST00000515010.1_Splice_Site|FYB_ENST00000540520.1_Splice_Site|FYB_ENST00000512982.1_Splice_Site|FYB_ENST00000505428.1_Splice_Site	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein						immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGCTAGTACCTAAGAAGCAAA	0.423																																						ENST00000351578.6																			0				endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45						c.e3-2		FYN binding protein							144.0	150.0	148.0					5																	39153708		1993	4161	6154	SO:0001630	splice_region_variant	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39153708T>A	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1136-2A>T	5.37:g.39153708T>A			Somatic				FYB_ENST00000512982.1_Splice_Site|FYB_ENST00000540520.1_Splice_Site|FYB_ENST00000505428.1_Splice_Site|FYB_ENST00000515010.1_Splice_Site		NM_199335.3	NP_955367.1	WXS	Illumina GAIIx	Phase_I	O15117	FYB_HUMAN	Epithelial(62;0.235)		3	1326	-	all_lung(31;0.000343)							A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Splice_Site	SNP	ENST00000351578.6	37		CCDS47200.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.977321	0.53720	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7599	0.46258	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FYB	39189465	1.000000	0.71417	0.994000	0.49952	0.728000	0.41692	3.595000	0.54016	1.853000	0.53794	0.459000	0.35465	.		0.423	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465	Intron	5	168	0	0	0	1	0	5	168				
PRDM7	11105	broad.mit.edu	37	16	90128381	90128381	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:90128381T>C	ENST00000449207.2	-	7	849	c.830A>G	c.(829-831)gAg>gGg	p.E277G	PRDM7_ENST00000407825.1_Missense_Mutation_p.E71G|PRDM7_ENST00000325921.6_Missense_Mutation_p.E71G	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	277	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		AATTCGGCCCTCATAGGGGCC	0.557																																						ENST00000407825.1																			0				lung(2)|ovary(2)|stomach(1)	5						c.(211-213)gAg>gGg		PR domain containing 7							108.0	105.0	106.0					16																	90128381		2198	4300	6498	SO:0001583	missense	11105					chromosome|nucleus	nucleic acid binding	g.chr16:90128381T>C	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.830A>G	16.37:g.90128381T>C	ENSP00000396732:p.Glu277Gly		Somatic				PRDM7_ENST00000449207.2_Missense_Mutation_p.E277G|PRDM7_ENST00000325921.6_Missense_Mutation_p.E71G	p.E71G			WXS	Illumina GAIIx	Phase_I	Q9NQW5	PRDM7_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	7	849	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	277			KRAB-related.		A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000449207.2	37	c.212A>G	CCDS45557.1	.	.	.	.	.	.	.	.	.	.	.	7.224	0.597887	0.13939	.	.	ENSG00000126856	ENST00000325921;ENST00000449207;ENST00000407825	T;T;T	0.60672	0.17;0.17;0.17	2.43	-0.381	0.12485	SET domain (2);	.	.	.	.	T	0.61899	0.2384	M	0.77486	2.375	0.39261	D	0.964216	D;P;P	0.61697	0.99;0.868;0.887	P;B;P	0.56216	0.794;0.33;0.65	T	0.62220	-0.6900	8	.	.	.	-13.592	1.684	0.02838	0.2899:0.1852:0.0:0.5249	.	71;277;71	Q9NQW5-1;Q9NQW5;Q9NQW5-2	.;PRDM7_HUMAN;.	G	71;277;71	ENSP00000315512:E71G;ENSP00000396732:E277G;ENSP00000385121:E71G	.	E	-	2	0	PRDM7	88655882	1.000000	0.71417	0.838000	0.33150	0.036000	0.12997	2.654000	0.46699	0.172000	0.19760	0.402000	0.26972	GAG		0.557	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			5	669	0	0	0	1	0	5	669				
VSIG4	11326	broad.mit.edu	37	X	65253426	65253426	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:65253426C>A	ENST00000374737.4	-	2	410	c.302G>T	c.(301-303)aGc>aTc	p.S101I	VSIG4_ENST00000455586.2_Missense_Mutation_p.S101I|VSIG4_ENST00000412866.2_Missense_Mutation_p.S101I	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	101	Ig-like 1.				complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTCCAGGGTGCTCAATTGGAG	0.532																																						ENST00000455586.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(301-303)aGc>aTc		V-set and immunoglobulin domain containing 4							141.0	120.0	127.0					X																	65253426		2203	4300	6503	SO:0001583	missense	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65253426C>A	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.302G>T	X.37:g.65253426C>A	ENSP00000363869:p.Ser101Ile		Somatic				VSIG4_ENST00000412866.2_Missense_Mutation_p.S101I|VSIG4_ENST00000374737.4_Missense_Mutation_p.S101I	p.S101I	NM_001184830.1	NP_001171759.1	WXS	Illumina GAIIx	Phase_I	Q9Y279	VSIG4_HUMAN			2	428	-			101			Ig-like 1.		Q6UXI4	Missense_Mutation	SNP	ENST00000374737.4	37	c.302G>T	CCDS14383.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.241|8.241	0.806842|0.806842	0.16467|0.16467	.|.	.|.	ENSG00000155659|ENSG00000155659	ENST00000427538|ENST00000374737;ENST00000455586;ENST00000412866	.|T;T;T	.|0.68479	.|-0.33;-0.33;-0.33	4.79|4.79	2.4|2.4	0.29515|0.29515	.|Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.427298	.|0.21901	.|N	.|0.067447	T|T	0.42291|0.42291	0.1196|0.1196	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	.|P;P;D;P;P	.|0.56035	.|0.947;0.86;0.974;0.931;0.946	.|B;B;P;B;B	.|0.46419	.|0.351;0.17;0.516;0.316;0.33	T|T	0.32322|0.32322	-0.9911|-0.9911	5|10	.|0.32370	.|T	.|0.25	-5.5457|-5.5457	6.3795|6.3795	0.21525|0.21525	0.0:0.1594:0.0:0.8406|0.0:0.1594:0.0:0.8406	.|.	.|101;101;91;101;101	.|C9J1L3;Q9Y279-2;C9JH67;Q9Y279-3;Q9Y279	.|.;.;.;.;VSIG4_HUMAN	D|I	27|101	.|ENSP00000363869:S101I;ENSP00000411581:S101I;ENSP00000394143:S101I	.|ENSP00000363869:S101I	E|S	-|-	3|2	2|0	VSIG4|VSIG4	65170151|65170151	0.485000|0.485000	0.25972|0.25972	0.432000|0.432000	0.26747|0.26747	0.226000|0.226000	0.24999|0.24999	1.259000|1.259000	0.32956|0.32956	0.103000|0.103000	0.17682|0.17682	-0.198000|-0.198000	0.12761|0.12761	GAG|AGC		0.532	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		8	408	1	0	1.76689e-08	1	2.12822e-08	8	408				
PRC1	9055	broad.mit.edu	37	15	91517866	91517866	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:91517866T>C	ENST00000361188.5	-	10	2510	c.1299A>G	c.(1297-1299)gcA>gcG	p.A433A	Y_RNA_ENST00000363272.1_RNA|PRC1_ENST00000442656.2_Silent_p.A392A|PRC1_ENST00000394249.3_Silent_p.A433A|PRC1_ENST00000361919.3_Silent_p.A433A|PRC1-AS1_ENST00000554388.1_RNA|PRC1-AS1_ENST00000556200.1_RNA					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					CCCATTGTTCTGCCACATACT	0.433																																						ENST00000361188.5																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25						c.(1297-1299)gcA>gcG		protein regulator of cytokinesis 1							401.0	353.0	369.0					15																	91517866		2198	4298	6496	SO:0001819	synonymous_variant	9055				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	g.chr15:91517866T>C	AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.1299A>G	15.37:g.91517866T>C			Somatic				PRC1_ENST00000442656.2_Silent_p.A392A|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Silent_p.A433A|PRC1_ENST00000361919.3_Silent_p.A433A	p.A433A			WXS	Illumina GAIIx	Phase_I	O43663	PRC1_HUMAN			10	2510	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		433			Spectrin-fold.			Silent	SNP	ENST00000361188.5	37	c.1299A>G	CCDS45352.1																																																																																				0.433	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		33	4648	0	0	0	1	0	33	4648				
UGT2B7	7364	broad.mit.edu	37	4	69962726	69962726	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:69962726T>C	ENST00000508661.1	+	1	515	c.488T>C	c.(487-489)cTa>cCa	p.L163P	UGT2B7_ENST00000305231.7_Missense_Mutation_p.L163P|UGT2B7_ENST00000509763.1_Intron			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	163					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CTGGCTGAGCTATTTAACATA	0.383																																						ENST00000305231.7																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(487-489)cTa>cCa		UDP glucuronosyltransferase 2 family, polypeptide B7							135.0	135.0	135.0					4																	69962726		2203	4299	6502	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69962726T>C	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.488T>C	4.37:g.69962726T>C	ENSP00000427659:p.Leu163Pro		Somatic				UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.L163P	p.L163P	NM_001074.2	NP_001065.2	WXS	Illumina GAIIx	Phase_I	P16662	UD2B7_HUMAN			1	534	+			163					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	37	c.488T>C		.	.	.	.	.	.	.	.	.	.	T	10.97	1.500149	0.26861	.	.	ENSG00000171234	ENST00000305231;ENST00000508661	T;T	0.68181	-0.31;-0.31	2.54	2.54	0.30619	.	0.334432	0.21060	U	0.080855	T	0.80696	0.4672	M	0.90542	3.125	0.09310	N	0.999999	D;D	0.60160	0.987;0.977	D;D	0.70935	0.971;0.954	T	0.68957	-0.5272	9	.	.	.	.	5.6495	0.17608	0.0:0.0:0.2828:0.7172	.	163;163	E9PBP8;P16662	.;UD2B7_HUMAN	P	163	ENSP00000304811:L163P;ENSP00000427659:L163P	.	L	+	2	0	UGT2B7	69997315	0.000000	0.05858	0.012000	0.15200	0.019000	0.09904	-0.094000	0.11094	1.157000	0.42530	0.260000	0.18958	CTA		0.383	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		36	351	0	0	0	1	0	36	351				
ITPR2	3709	broad.mit.edu	37	12	26809327	26809327	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:26809327G>T	ENST00000381340.3	-	19	2763	c.2347C>A	c.(2347-2349)Ctc>Atc	p.L783I		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	783					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)	TGCATGTGGAGCATGAGGCGA	0.552																																						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.(2347-2349)Ctc>Atc		inositol 1,4,5-trisphosphate receptor, type 2							75.0	80.0	79.0					12																	26809327		2042	4199	6241	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.chr12:26809327G>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.2347C>A	12.37:g.26809327G>T	ENSP00000370744:p.Leu783Ile		Somatic					p.L783I	NM_002223.2	NP_002214.2	WXS	Illumina GAIIx	Phase_I	Q14571	ITPR2_HUMAN			19	2763	-	Colorectal(261;0.0847)		783					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.2347C>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459269	0.84317	.	.	ENSG00000123104	ENST00000381340	D	0.93488	-3.23	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.96642	0.8904	M	0.88105	2.93	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95729	0.8773	10	0.36615	T	0.2	.	12.487	0.55879	0.0808:0.0:0.9192:0.0	.	783	Q14571	ITPR2_HUMAN	I	783	ENSP00000370744:L783I	ENSP00000370744:L783I	L	-	1	0	ITPR2	26700594	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.817000	0.55668	2.546000	0.85860	0.655000	0.94253	CTC		0.552	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		10	361	1	0	9.70103e-10	1	1.19538e-09	10	361				
GCLC	2729	broad.mit.edu	37	6	53364920	53364920	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:53364920A>G	ENST00000229416.6	-	15	2108	c.1625T>C	c.(1624-1626)cTt>cCt	p.L542P		NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	542					apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	CATGTTTTCAAGGTAAGAGTT	0.428																																						ENST00000229416.6																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1624-1626)cTt>cCt		glutamate-cysteine ligase, catalytic subunit	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)						129.0	121.0	124.0					6																	53364920		2203	4300	6503	SO:0001583	missense	2729				anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding	g.chr6:53364920A>G	M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.1625T>C	6.37:g.53364920A>G	ENSP00000229416:p.Leu542Pro		Somatic					p.L542P	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	WXS	Illumina GAIIx	Phase_I	P48506	GSH1_HUMAN			15	2108	-	Lung NSC(77;0.0137)		542					Q14399	Missense_Mutation	SNP	ENST00000229416.6	37	c.1625T>C	CCDS4952.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.771136	0.90108	.	.	ENSG00000001084	ENST00000229416	T	0.78924	-1.22	5.77	5.77	0.91146	.	0.119134	0.56097	D	0.000033	D	0.89904	0.6850	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.92434	0.5956	10	0.87932	D	0	.	16.383	0.83481	1.0:0.0:0.0:0.0	.	542	P48506	GSH1_HUMAN	P	542	ENSP00000229416:L542P	ENSP00000229416:L542P	L	-	2	0	GCLC	53472879	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	9.287000	0.95975	2.326000	0.78906	0.533000	0.62120	CTT		0.428	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359710.2			5	436	0	0	0	1	0	5	436				
MLLT4	4301	broad.mit.edu	37	6	168289893	168289893	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:168289893A>T	ENST00000447894.2	+	7	897		c.e7-1		MLLT4_ENST00000400822.3_Splice_Site|MLLT4_ENST00000344191.4_Splice_Site|MLLT4_ENST00000366806.2_Splice_Site|MLLT4_ENST00000392112.1_Splice_Site|MLLT4_ENST00000351017.4_Splice_Site|MLLT4_ENST00000392108.3_Splice_Site			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTGTTTTTTTAGGTTATGCTT	0.328			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.e7-1		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							83.0	86.0	85.0					6																	168289893		2203	4296	6499	SO:0001630	splice_region_variant	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168289893A>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.898-1A>T	6.37:g.168289893A>T			Somatic				MLLT4_ENST00000392108.3_Splice_Site|MLLT4_ENST00000351017.4_Splice_Site|MLLT4_ENST00000447894.2_Splice_Site|MLLT4_ENST00000392112.1_Splice_Site|MLLT4_ENST00000344191.4_Splice_Site|MLLT4_ENST00000400822.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	7	1039	+		Breast(66;1.07e-05)|Ovarian(120;0.024)						O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Splice_Site	SNP	ENST00000447894.2	37			.	.	.	.	.	.	.	.	.	.	A	12.90	2.075334	0.36662	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894;ENST00000423229	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3734	0.74584	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MLLT4	168032742	1.000000	0.71417	0.720000	0.30636	0.289000	0.27227	6.951000	0.75983	2.028000	0.59812	0.533000	0.62120	.		0.328	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936	Intron	6	63	0	0	0	1	0	6	63				
C11orf53	341032	broad.mit.edu	37	11	111154999	111154999	+	Missense_Mutation	SNP	G	G	A	rs146857088		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:111154999G>A	ENST00000280325.4	+	3	353	c.206G>A	c.(205-207)cGg>cAg	p.R69Q		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	69										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		GGAGACTACCGGCCTCCGGCG	0.692																																						ENST00000280325.4																			0				endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8						c.(205-207)cGg>cAg		chromosome 11 open reading frame 53		G	GLN/ARG	0,4402		0,0,2201	41.0	48.0	45.0		206	4.7	1.0	11	dbSNP_134	45	1,8593	1.2+/-3.3	0,1,4296	no	missense	C11orf53	NM_198498.1	43	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	69/237	111154999	1,12995	2201	4297	6498	SO:0001583	missense	341032							g.chr11:111154999G>A	BC039669	CCDS31674.1	11q23.1	2012-05-31			ENSG00000150750	ENSG00000150750			30527	protein-coding gene	gene with protein product						12477932	Standard	NM_198498		Approved	MGC50104	uc001plc.3	Q8IXP5	OTTHUMG00000166656	ENST00000280325.4:c.206G>A	11.37:g.111154999G>A	ENSP00000280325:p.Arg69Gln		Somatic					p.R69Q	NM_198498.1	NP_940900.1	WXS	Illumina GAIIx	Phase_I	Q8IXP5	CK053_HUMAN		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)	3	353	+		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)	69						Missense_Mutation	SNP	ENST00000280325.4	37	c.206G>A	CCDS31674.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293090	0.80914	0.0	1.16E-4	ENSG00000150750	ENST00000280325	.	.	.	5.66	4.74	0.60224	.	0.057619	0.64402	D	0.000001	T	0.75012	0.3792	M	0.72894	2.215	0.47621	D	0.999472	D	0.89917	1.0	D	0.66497	0.944	T	0.75929	-0.3144	9	0.52906	T	0.07	-34.9344	12.7742	0.57437	0.0795:0.0:0.9205:0.0	.	69	Q8IXP5	CK053_HUMAN	Q	69	.	ENSP00000280325:R69Q	R	+	2	0	C11orf53	110660209	1.000000	0.71417	0.994000	0.49952	0.114000	0.19823	5.606000	0.67641	2.677000	0.91161	0.591000	0.81541	CGG		0.692	C11orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390989.1	NM_198498		4	201	0	0	0	1	0	4	201				
MBD6	114785	broad.mit.edu	37	12	57920900	57920900	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:57920900G>T	ENST00000355673.3	+	7	2328	c.1972G>T	c.(1972-1974)Gac>Tac	p.D658Y	MBD6_ENST00000431731.2_Missense_Mutation_p.D658Y	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	658	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						AGGCTTGGGAGACCTGTCCCC	0.637																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(1972-1974)Gac>Tac		methyl-CpG binding domain protein 6							41.0	42.0	42.0					12																	57920900		2203	4300	6503	SO:0001583	missense	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57920900G>T	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.1972G>T	12.37:g.57920900G>T	ENSP00000347896:p.Asp658Tyr		Somatic				MBD6_ENST00000431731.2_Missense_Mutation_p.D658Y	p.D658Y	NM_052897.3	NP_443129.3	WXS	Illumina GAIIx	Phase_I	Q96DN6	MBD6_HUMAN			7	2328	+			658			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	c.1972G>T	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689875	0.29962	.	.	ENSG00000166987	ENST00000355673;ENST00000431731;ENST00000300263	.	.	.	4.76	4.76	0.60689	.	0.335552	0.25532	N	0.030040	T	0.45577	0.1349	N	0.08118	0	0.35920	D	0.831743	D;D	0.69078	0.997;0.997	D;D	0.68353	0.957;0.937	T	0.59451	-0.7452	9	0.66056	D	0.02	-5.9226	10.8837	0.46955	0.0:0.0:0.8123:0.1877	.	658;658	Q6P0P0;Q96DN6	.;MBD6_HUMAN	Y	658;658;122	.	ENSP00000300263:D122Y	D	+	1	0	MBD6	56207167	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.744000	0.62118	2.375000	0.81037	0.561000	0.74099	GAC		0.637	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			7	15	1	0	6.5536e-12	1	8.28341e-12	7	15				
NSA2	10412	broad.mit.edu	37	5	74065165	74065165	+	Silent	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:74065165T>A	ENST00000296802.5	+	3	687	c.318T>A	c.(316-318)atT>atA	p.I106I	GFM2_ENST00000345239.2_5'Flank|GFM2_ENST00000427854.2_5'Flank|GFM2_ENST00000509430.1_5'Flank|GFM2_ENST00000296805.3_5'Flank|NSA2_ENST00000513356.1_3'UTR	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	106	Lys-rich.				rRNA processing (GO:0006364)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						CCAATATGATTAAACAGAAAA	0.373																																						ENST00000296802.5																			0				breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						c.(316-318)atT>atA		NSA2 ribosome biogenesis homolog (S. cerevisiae)							86.0	100.0	95.0					5																	74065165		2185	4256	6441	SO:0001819	synonymous_variant	10412				rRNA processing	nucleolus|ribonucleoprotein complex		g.chr5:74065165T>A	AF077615	CCDS4025.1, CCDS75260.1	5q13.3	2010-01-18			ENSG00000164346	ENSG00000164346			30728	protein-coding gene	gene with protein product	"""hairy cell leukemia protein 1"", ""TGF beta-inducible nuclear protein 1"""	612497				11124703, 10486207	Standard	NM_014886		Approved	HUSSY-29, HCLG1, FLJ94393, TINP1	uc003kdk.2	O95478	OTTHUMG00000131273	ENST00000296802.5:c.318T>A	5.37:g.74065165T>A			Somatic				NSA2_ENST00000513356.1_3'UTR	p.I106I	NM_014886.3	NP_055701.1	WXS	Illumina GAIIx	Phase_I	O95478	NSA2_HUMAN			3	687	+			106			Lys-rich.			Silent	SNP	ENST00000296802.5	37	c.318T>A	CCDS4025.1	.	.	.	.	.	.	.	.	.	.	T	10.53	1.374641	0.24857	.	.	ENSG00000164346	ENST00000515524	.	.	.	5.65	0.515	0.17013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9168	0.19059	0.1218:0.3637:0.0:0.5145	.	.	.	.	K	15	.	.	X	+	1	0	NSA2	74100921	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	0.732000	0.26072	-0.060000	0.13132	0.402000	0.26972	TAA		0.373	NSA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254041.3	NM_014886		8	439	0	0	0	1	0	8	439				
SCN5A	6331	broad.mit.edu	37	3	38595825	38595825	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:38595825G>T	ENST00000333535.4	-	27	4907	c.4758C>A	c.(4756-4758)taC>taA	p.Y1586*	SCN5A_ENST00000425664.1_Nonsense_Mutation_p.Y1568*|SCN5A_ENST00000443581.1_Nonsense_Mutation_p.Y1585*|SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.Y1532*|SCN5A_ENST00000414099.2_Nonsense_Mutation_p.Y1568*|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.Y1532*|SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.Y1532*|SCN5A_ENST00000413689.1_Nonsense_Mutation_p.Y1586*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.Y1585*			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1586					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TGTTGGTGAAGTAGTAGTGGC	0.532																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(4756-4758)taC>taA		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						132.0	140.0	137.0					3																	38595825		2105	4238	6343	SO:0001587	stop_gained	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38595825G>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4758C>A	3.37:g.38595825G>T	ENSP00000328968:p.Tyr1586*		Somatic				SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000425664.1_Nonsense_Mutation_p.Y1568*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.Y1585*|SCN5A_ENST00000333535.4_Nonsense_Mutation_p.Y1586*|SCN5A_ENST00000414099.2_Nonsense_Mutation_p.Y1568*|SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.Y1532*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.Y1532*|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.Y1532*|SCN5A_ENST00000443581.1_Nonsense_Mutation_p.Y1585*	p.Y1586*	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	WXS	Illumina GAIIx	Phase_I	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	27	4951	-	Medulloblastoma(35;0.163)		1586					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Nonsense_Mutation	SNP	ENST00000333535.4	37	c.4758C>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	43	10.381694	0.99395	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000450102;ENST00000449557	.	.	.	3.69	2.81	0.32909	.	0.065749	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8201	0.35020	0.1847:0.0:0.8153:0.0	.	.	.	.	X	1568;1585;1586;1532;1585;1568;1586;1532;1532	.	ENSP00000328968:Y1586X	Y	-	3	2	SCN5A	38570829	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	2.779000	0.47734	0.764000	0.33197	0.462000	0.41574	TAC		0.532	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		50	425	1	0	7.34454e-26	1	9.69941e-26	50	425				
CLEC12B	387837	broad.mit.edu	37	12	10168295	10168295	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:10168295T>C	ENST00000338896.5	+	5	777	c.649T>C	c.(649-651)Tgg>Cgg	p.W217R	RP11-133L14.5_ENST00000544225.1_RNA|CLEC12B_ENST00000396502.1_Missense_Mutation_p.W217R|CLEC1B_ENST00000428126.2_5'Flank	NM_001129998.1	NP_001123470.1	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	217	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|large_intestine(2)|lung(5)	9						AAGTTGGTTCTGGGAAGATGG	0.418																																						ENST00000396502.1																			0				central_nervous_system(2)|large_intestine(2)|lung(5)	9						c.(649-651)Tgg>Cgg		C-type lectin domain family 12, member B							151.0	141.0	145.0					12																	10168295		2203	4300	6503	SO:0001583	missense	387837					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10168295T>C	AK128243	CCDS8610.1, CCDS44830.1	12p13.2	2010-08-17			ENSG00000256660	ENSG00000256660		"""C-type lectin domain containing"""	31966	protein-coding gene	gene with protein product						17562706	Standard	NM_205852		Approved		uc001qwz.2	Q2HXU8	OTTHUMG00000168397	ENST00000338896.5:c.649T>C	12.37:g.10168295T>C	ENSP00000344563:p.Trp217Arg		Somatic				RP11-133L14.5_ENST00000544225.1_RNA|CLEC12B_ENST00000338896.5_Missense_Mutation_p.W217R	p.W217R	NM_205852.2	NP_995324.2	WXS	Illumina GAIIx	Phase_I	Q2HXU8	CL12B_HUMAN			5	777	+			217			C-type lectin.		Q6UWF2|Q6ZRG0	Missense_Mutation	SNP	ENST00000338896.5	37	c.649T>C	CCDS44830.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.746401	0.49257	.	.	ENSG00000172322;ENSG00000256660;ENSG00000256660	ENST00000396506;ENST00000396502;ENST00000338896	T;T	0.37235	1.21;1.21	4.7	4.7	0.59300	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.761577	0.11512	N	0.556638	T	0.71151	0.3306	H	0.96080	3.765	0.39610	D	0.96986	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.75241	-0.3387	10	0.56958	D	0.05	.	11.1055	0.48201	0.0:0.0:0.0:1.0	.	217;217	Q2HXU8;Q2HXU8-2	CL12B_HUMAN;.	R	76;217;217	ENSP00000379759:W217R;ENSP00000344563:W217R	ENSP00000379763:W76R	W	+	1	0	CLEC12A;CLEC12B	10059562	0.990000	0.36364	0.917000	0.36280	0.680000	0.39746	3.246000	0.51414	2.060000	0.61445	0.402000	0.26972	TGG		0.418	CLEC12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399554.2	NM_205852		4	261	0	0	0	1	0	4	261				
OSBPL3	26031	broad.mit.edu	37	7	24881964	24881964	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:24881964A>G	ENST00000313367.2	-	13	1786	c.1335T>C	c.(1333-1335)acT>acC	p.T445T	OSBPL3_ENST00000352860.1_Silent_p.T414T|OSBPL3_ENST00000431825.2_Silent_p.T378T|OSBPL3_ENST00000396431.1_Silent_p.T414T|OSBPL3_ENST00000409069.1_Silent_p.T378T|OSBPL3_ENST00000353930.1_Silent_p.T409T|OSBPL3_ENST00000396429.1_Silent_p.T409T	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	445					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						AAAGGGAGTCAGTGATGGAGA	0.383																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(1333-1335)acT>acC		oxysterol binding protein-like 3							179.0	194.0	189.0					7																	24881964		2203	4300	6503	SO:0001819	synonymous_variant	26031				lipid transport		lipid binding|protein binding	g.chr7:24881964A>G	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1335T>C	7.37:g.24881964A>G			Somatic				OSBPL3_ENST00000409069.1_Silent_p.T378T|OSBPL3_ENST00000396431.1_Silent_p.T414T|OSBPL3_ENST00000431825.2_Silent_p.T378T|OSBPL3_ENST00000396429.1_Silent_p.T409T|OSBPL3_ENST00000353930.1_Silent_p.T409T|OSBPL3_ENST00000352860.1_Silent_p.T414T	p.T445T	NM_015550.2	NP_056365.1	WXS	Illumina GAIIx	Phase_I	Q9H4L5	OSBL3_HUMAN			13	1786	-			445					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Silent	SNP	ENST00000313367.2	37	c.1335T>C	CCDS5390.1																																																																																				0.383	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			9	662	0	0	0	1	0	9	662				
KAZALD1	81621	broad.mit.edu	37	10	102824601	102824601	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:102824601G>A	ENST00000370200.5	+	5	1165	c.839G>A	c.(838-840)gGc>gAc	p.G280D		NM_030929.4	NP_112191.2	Q96I82	KAZD1_HUMAN	Kazal-type serine peptidase inhibitor domain 1	280					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|regulation of cell growth (GO:0001558)	interstitial matrix (GO:0005614)		p.G280D(1)		endometrium(1)|ovary(1)|prostate(2)	4				Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		AACTCTACAGGCATCCCCCAG	0.557																																						ENST00000370200.5																			1	Substitution - Missense(1)	p.G280D(1)	endometrium(1)	endometrium(1)|ovary(1)|prostate(2)	4						c.(838-840)gGc>gAc		Kazal-type serine peptidase inhibitor domain 1							86.0	84.0	85.0					10																	102824601		2203	4300	6503	SO:0001583	missense	81621				cell differentiation|multicellular organismal development|ossification|regulation of cell growth		insulin-like growth factor binding	g.chr10:102824601G>A	AF333487	CCDS7509.1	10q24.32	2013-01-11	2005-08-17		ENSG00000107821	ENSG00000107821		"""Immunoglobulin superfamily / I-set domain containing"""	25460	protein-coding gene	gene with protein product		609208	"""Kazal-type serine protease inhibitor domain 1"""			12975309	Standard	NM_030929		Approved	FKSG40, FKSG28	uc001ksr.3	Q96I82	OTTHUMG00000018918	ENST00000370200.5:c.839G>A	10.37:g.102824601G>A	ENSP00000359219:p.Gly280Asp		Somatic					p.G280D	NM_030929.4	NP_112191.2	WXS	Illumina GAIIx	Phase_I	Q96I82	KAZD1_HUMAN		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)	5	1165	+			280					D3DR74|Q6ZMB1|Q9BQ73	Missense_Mutation	SNP	ENST00000370200.5	37	c.839G>A	CCDS7509.1	.	.	.	.	.	.	.	.	.	.	G	8.433	0.849081	0.17034	.	.	ENSG00000107821	ENST00000370200	T	0.60040	0.22	5.19	3.26	0.37387	.	0.337414	0.29846	N	0.011057	T	0.36880	0.0983	L	0.27053	0.805	0.09310	N	0.999998	B	0.18461	0.028	B	0.15052	0.012	T	0.09357	-1.0678	10	0.12103	T	0.63	-0.1384	8.1824	0.31319	0.1455:0.1515:0.703:0.0	.	280	Q96I82	KAZD1_HUMAN	D	280	ENSP00000359219:G280D	ENSP00000359219:G280D	G	+	2	0	KAZALD1	102814591	0.916000	0.31088	0.964000	0.40570	0.320000	0.28249	1.498000	0.35660	2.698000	0.92095	0.561000	0.74099	GGC		0.557	KAZALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049891.2	NM_030929		5	626	0	0	0	1	0	5	626				
SEC16A	9919	broad.mit.edu	37	9	139369159	139369159	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:139369159G>A	ENST00000371706.3	-	1	2408	c.2375C>T	c.(2374-2376)gCa>gTa	p.A792V	SEC16A_ENST00000431893.2_Missense_Mutation_p.A792V|SEC16A_ENST00000313050.7_Missense_Mutation_p.A970V|SEC16A_ENST00000290037.6_Missense_Mutation_p.A792V			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	792					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGTGCCGTGTGCAGGTGGAAC	0.493																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2908-2910)gCa>gTa		SEC16 homolog A (S. cerevisiae)							48.0	48.0	48.0					9																	139369159		1949	4147	6096	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139369159G>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.2375C>T	9.37:g.139369159G>A	ENSP00000360771:p.Ala792Val		Somatic				SEC16A_ENST00000431893.2_Missense_Mutation_p.A792V|SEC16A_ENST00000371706.3_Missense_Mutation_p.A792V|SEC16A_ENST00000290037.6_Missense_Mutation_p.A792V	p.A970V	NM_014866.1	NP_055681.1	WXS	Illumina GAIIx	Phase_I	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	1	2982	-		Myeloproliferative disorder(178;0.0511)	792			Pro-rich.|Required for endoplasmic reticulum localization.		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.2909C>T		.	.	.	.	.	.	.	.	.	.	G	16.43	3.120131	0.56613	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893	T;T;T;T	0.21543	2.0;2.03;2.03;2.03	5.65	1.25	0.21368	.	1.484940	0.03817	N	0.266941	T	0.19167	0.0460	L	0.50919	1.6	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.003;0.003	T	0.23404	-1.0189	10	0.19147	T	0.46	-0.8965	4.5231	0.11969	0.4417:0.1665:0.3918:0.0	.	970;792;792	F1T0I1;O15027-5;O15027-4	.;.;.	V	970;792;792;792	ENSP00000325827:A970V;ENSP00000360771:A792V;ENSP00000290037:A792V;ENSP00000387583:A792V	ENSP00000290037:A792V	A	-	2	0	SEC16A	138488980	0.000000	0.05858	0.000000	0.03702	0.298000	0.27526	0.443000	0.21644	0.060000	0.16281	0.655000	0.94253	GCA		0.493	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		19	17	0	0	0	1	0	19	17				
TADA1	117143	broad.mit.edu	37	1	166829540	166829540	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:166829540G>T	ENST00000367874.4	-	6	668	c.575C>A	c.(574-576)tCa>tAa	p.S192*	TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	192					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						TTTCCTTCTTGACACAACTGA	0.368																																						ENST00000367874.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						c.(574-576)tCa>tAa		transcriptional adaptor 1							110.0	94.0	99.0					1																	166829540		2203	4300	6503	SO:0001587	stop_gained	117143				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr1:166829540G>T	BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"""transcriptional adaptor 1 (HFI1 homolog, yeast)-like"", ""transcriptional adaptor 1 (HFI1 homolog, yeast)"""	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.575C>A	1.37:g.166829540G>T	ENSP00000356848:p.Ser192*		Somatic				TADA1_ENST00000467021.1_5'UTR	p.S192*	NM_053053.3	NP_444281.1	WXS	Illumina GAIIx	Phase_I	Q96BN2	TADA1_HUMAN			6	668	-			192					A8K4J9	Nonsense_Mutation	SNP	ENST00000367874.4	37	c.575C>A	CCDS1255.1	.	.	.	.	.	.	.	.	.	.	G	37	6.589216	0.97688	.	.	ENSG00000152382	ENST00000367874	.	.	.	5.73	5.73	0.89815	.	0.058175	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1471	17.41	0.87482	0.0:0.0:1.0:0.0	.	.	.	.	X	192	.	ENSP00000356848:S192X	S	-	2	0	TADA1	165096164	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.274000	0.78538	2.710000	0.92621	0.650000	0.86243	TCA		0.368	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082881.1	NM_053053		12	92	1	0	2.61681e-11	1	3.27937e-11	12	92				
SYTL2	54843	broad.mit.edu	37	11	85468686	85468686	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:85468686G>A	ENST00000528231.1	-	1	360	c.83C>T	c.(82-84)gCc>gTc	p.A28V	SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000316356.4_Missense_Mutation_p.A28V|SYTL2_ENST00000389960.4_Missense_Mutation_p.A28V|SYTL2_ENST00000524452.1_Missense_Mutation_p.A28V	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	28	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				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)		CTCTTCTTCGGCCCTCTTCAG	0.478																																						ENST00000316356.4																			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.(82-84)gCc>gTc		synaptotagmin-like 2							236.0	240.0	238.0					11																	85468686		2203	4299	6502	SO:0001583	missense	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.chr11:85468686G>A	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.83C>T	11.37:g.85468686G>A	ENSP00000431701:p.Ala28Val		Somatic				SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000389960.4_Missense_Mutation_p.A28V|SYTL2_ENST00000528231.1_Missense_Mutation_p.A28V|SYTL2_ENST00000524452.1_Missense_Mutation_p.A28V	p.A28V			WXS	Illumina GAIIx	Phase_I	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	2	647	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	28			RabBD.		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	c.83C>T	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520197	0.44866	.	.	ENSG00000137501	ENST00000389960;ENST00000316356;ENST00000528231;ENST00000524452	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.46	2.56	0.30785	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	.	.	.	.	T	0.63165	0.2488	N	0.25647	0.755	0.29914	N	0.823313	B;B;B	0.27416	0.178;0.004;0.078	B;B;B	0.28638	0.092;0.011;0.092	T	0.54057	-0.8350	8	.	.	.	.	8.1436	0.31097	0.1467:0.1304:0.7228:0.0	.	28;28;28	Q9HCH5-6;Q9HCH5;Q9HCH5-13	.;SYTL2_HUMAN;.	V	28	ENSP00000374610:A28V;ENSP00000318803:A28V;ENSP00000431701:A28V;ENSP00000435238:A28V	.	A	-	2	0	SYTL2	85146334	0.097000	0.21791	0.079000	0.20413	0.980000	0.70556	2.682000	0.46934	0.264000	0.21851	-0.157000	0.13467	GCC		0.478	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		12	1018	0	0	0	1	0	12	1018				
FZD2	2535	broad.mit.edu	37	17	42636336	42636336	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:42636336G>A	ENST00000315323.3	+	1	1412	c.1280G>A	c.(1279-1281)gGc>gAc	p.G427D		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	427					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.G427D(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CTGTTCATCGGCACGTCCTTC	0.642																																						ENST00000315323.3																			1	Substitution - Missense(1)	p.G427D(1)	kidney(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33						c.(1279-1281)gGc>gAc		frizzled family receptor 2							105.0	97.0	100.0					17																	42636336		2203	4300	6503	SO:0001583	missense	2535				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr17:42636336G>A	L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.1280G>A	17.37:g.42636336G>A	ENSP00000323901:p.Gly427Asp		Somatic					p.G427D	NM_001466.3	NP_001457.1	WXS	Illumina GAIIx	Phase_I	Q14332	FZD2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.189)	1	1412	+		Prostate(33;0.0181)	427					Q0VG82	Missense_Mutation	SNP	ENST00000315323.3	37	c.1280G>A	CCDS11484.1	.	.	.	.	.	.	.	.	.	.	g	24.7	4.554994	0.86231	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	D	0.92249	-3.0	5.24	5.24	0.73138	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.97626	0.9222	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99038	1.0823	10	0.87932	D	0	.	18.433	0.90633	0.0:0.0:1.0:0.0	.	427	Q14332	FZD2_HUMAN	D	503;427	ENSP00000323901:G427D	ENSP00000323901:G427D	G	+	2	0	FZD2	39991862	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.829000	0.99411	2.436000	0.82500	0.561000	0.74099	GGC		0.642	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457806.1	NM_001466		3	68	0	0	0	1	0	3	68				
FAM47C	442444	broad.mit.edu	37	X	37028864	37028864	+	Missense_Mutation	SNP	G	G	T	rs147158965	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:37028864G>T	ENST00000358047.3	+	1	2433	c.2381G>T	c.(2380-2382)cGt>cTt	p.R794L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	794										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCAAGACTCGTCGAGTGTCC	0.622																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(2380-2382)cGt>cTt		family with sequence similarity 47, member C							39.0	40.0	40.0					X																	37028864		2201	4300	6501	SO:0001583	missense	442444							g.chrX:37028864G>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2381G>T	X.37:g.37028864G>T	ENSP00000367913:p.Arg794Leu		Somatic					p.R794L	NM_001013736.2	NP_001013758.1	WXS	Illumina GAIIx	Phase_I	Q5HY64	FA47C_HUMAN			1	2433	+			794					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2381G>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	g	9.105	1.005209	0.19199	.	.	ENSG00000198173	ENST00000358047	T	0.13778	2.56	0.217	-0.433	0.12287	.	.	.	.	.	T	0.22475	0.0542	M	0.68317	2.08	0.09310	N	1	D	0.60575	0.988	P	0.57679	0.825	T	0.22382	-1.0218	9	0.41790	T	0.15	.	3.3303	0.07082	0.2719:0.2499:0.4782:0.0	.	794	Q5HY64	FA47C_HUMAN	L	794	ENSP00000367913:R794L	ENSP00000367913:R794L	R	+	2	0	FAM47C	36938785	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.664000	0.05292	-2.137000	0.00809	-2.151000	0.00333	CGT		0.622	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		6	64	1	0	3.35478e-16	1	4.34278e-16	6	64				
SLC7A9	11136	broad.mit.edu	37	19	33355682	33355682	+	Splice_Site	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:33355682G>A	ENST00000023064.4	-	3	279	c.88C>T	c.(88-90)Ctg>Ttg	p.L30L	SLC7A9_ENST00000587772.1_Splice_Site_p.L30L|RN7SKP22_ENST00000365097.1_RNA|SLC7A9_ENST00000590341.1_Splice_Site_p.L30L	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	30					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	ATGAGGCCCAGCTGGGTGTGG	0.647																																					GBM(181;1335 2108 9644 44178 46689)	ENST00000023064.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.e3-1		solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	L-Cystine(DB00138)						149.0	139.0	143.0					19																	33355682		2203	4300	6503	SO:0001630	splice_region_variant	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33355682G>A	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.88-1C>T	19.37:g.33355682G>A			Somatic				SLC7A9_ENST00000590341.1_Splice_Site_p.L30_splice|SLC7A9_ENST00000587772.1_Splice_Site_p.L30_splice	p.L30_splice	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	WXS	Illumina GAIIx	Phase_I	P82251	BAT1_HUMAN			3	279	-	Esophageal squamous(110;0.137)		30					B2R9A6	Splice_Site	SNP	ENST00000023064.4	37	c.87_splice	CCDS12425.1																																																																																				0.647	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1		Silent	6	286	0	0	0	1	0	6	286				
DTX1	1840	broad.mit.edu	37	12	113532655	113532655	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:113532655A>G	ENST00000257600.3	+	6	1792	c.1289A>G	c.(1288-1290)cAc>cGc	p.H430R	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	430					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GTGCTTCGGCACAAGGGCGTG	0.652																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(1288-1290)cAc>cGc		deltex homolog 1 (Drosophila)							52.0	46.0	48.0					12																	113532655		2202	4299	6501	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113532655A>G	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1289A>G	12.37:g.113532655A>G	ENSP00000257600:p.His430Arg		Somatic				DTX1_ENST00000547974.1_3'UTR	p.H430R	NM_004416.2	NP_004407.2	WXS	Illumina GAIIx	Phase_I	Q86Y01	DTX1_HUMAN			6	1792	+			430					O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.1289A>G	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	A	11.43	1.637038	0.29157	.	.	ENSG00000135144	ENST00000257600	T	0.66815	-0.23	4.14	4.14	0.48551	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.174451	0.49916	D	0.000126	T	0.49712	0.1573	N	0.19112	0.55	0.37680	D	0.923462	B	0.12013	0.005	B	0.14023	0.01	T	0.49916	-0.8888	10	0.28530	T	0.3	-11.4843	12.1591	0.54093	1.0:0.0:0.0:0.0	.	430	Q86Y01	DTX1_HUMAN	R	430	ENSP00000257600:H430R	ENSP00000257600:H430R	H	+	2	0	DTX1	112017038	1.000000	0.71417	0.951000	0.38953	0.957000	0.61999	3.617000	0.54181	1.508000	0.48769	0.374000	0.22700	CAC		0.652	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			8	137	0	0	0	1	0	8	137				
PSPC1	55269	broad.mit.edu	37	13	20346399	20346399	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr13:20346399C>A	ENST00000338910.4	-	2	816	c.657G>T	c.(655-657)ggG>ggT	p.G219G		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	219	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.|Sufficient for paraspeckles localization.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		GCAAGAATGCCCCATCACCAC	0.423																																						ENST00000338910.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(655-657)ggG>ggT		paraspeckle component 1							103.0	94.0	97.0					13																	20346399		1919	4152	6071	SO:0001819	synonymous_variant	55269				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding	g.chr13:20346399C>A	AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"""RNA binding motif (RRM) containing"""	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.657G>T	13.37:g.20346399C>A			Somatic					p.G219G	NM_001042414.2	NP_001035879.1	WXS	Illumina GAIIx	Phase_I	Q8WXF1	PSPC1_HUMAN		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)	2	816	-		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	219			RRM 2.|Sufficient for paraspeckles localization.		Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Silent	SNP	ENST00000338910.4	37	c.657G>T	CCDS41870.1																																																																																				0.423	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2			75	616	1	0	6.5209e-17	1	8.45993e-17	75	616				
ITGAM	3684	broad.mit.edu	37	16	31282301	31282301	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:31282301G>A	ENST00000287497.8	+	6	529	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	ITGAM_ENST00000544665.3_Missense_Mutation_p.A152T			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	152	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TAGTGACATTGCCTTCTTGAT	0.438																																						ENST00000544665.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(454-456)Gcc>Acc		integrin, alpha M (complement component 3 receptor 3 subunit)							238.0	222.0	227.0					16																	31282301		1940	4145	6085	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31282301G>A	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.454G>A	16.37:g.31282301G>A	ENSP00000287497:p.Ala152Thr		Somatic				ITGAM_ENST00000287497.8_Missense_Mutation_p.A152T	p.A152T	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	WXS	Illumina GAIIx	Phase_I	P11215	ITAM_HUMAN			6	525	+			152			VWFA.		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.454G>A	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930633	0.92389	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	D;D	0.83506	-1.73;-1.73	5.5	5.5	0.81552	von Willebrand factor, type A (3);	.	.	.	.	D	0.88804	0.6536	M	0.65975	2.015	0.36792	D	0.884881	D;D	0.64830	0.994;0.994	P;P	0.57324	0.818;0.818	D	0.91324	0.5084	9	0.72032	D	0.01	.	18.5274	0.90978	0.0:0.0:1.0:0.0	.	152;152	Q4VAK1;P11215	.;ITAM_HUMAN	T	152	ENSP00000441691:A152T;ENSP00000287497:A152T	ENSP00000287497:A152T	A	+	1	0	ITGAM	31189802	0.889000	0.30405	0.886000	0.34754	0.717000	0.41224	5.588000	0.67517	2.758000	0.94735	0.561000	0.74099	GCC		0.438	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		19	1180	0	0	0	1	0	19	1180				
LIX1	167410	broad.mit.edu	37	5	96460276	96460276	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:96460276G>T	ENST00000274382.4	-	2	435	c.140C>A	c.(139-141)gCa>gAa	p.A47E	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	47										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		ACTTGGGAATGCAGCCTTCTG	0.488																																						ENST00000274382.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10						c.(139-141)gCa>gAa		Lix1 homolog (chicken)							106.0	90.0	95.0					5																	96460276		2203	4300	6503	SO:0001583	missense	167410							g.chr5:96460276G>T		CCDS4088.1	5q15	2008-03-06	2008-03-06	2005-02-07	ENSG00000145721	ENSG00000145721			18581	protein-coding gene	gene with protein product		610466	"""chromosome 5 open reading frame 11"", ""Lix1 homolog (mouse)"""	C5orf11		11731258	Standard	NM_153234		Approved		uc003kmy.4	Q8N485	OTTHUMG00000128720	ENST00000274382.4:c.140C>A	5.37:g.96460276G>T	ENSP00000274382:p.Ala47Glu		Somatic				CTD-2215E18.1_ENST00000509481.1_Intron	p.A47E	NM_153234.4	NP_694966.3	WXS	Illumina GAIIx	Phase_I	Q8N485	LIX1_HUMAN		COAD - Colon adenocarcinoma(37;0.0733)	2	435	-		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)	47					A8K4R9|Q8N7I2	Missense_Mutation	SNP	ENST00000274382.4	37	c.140C>A	CCDS4088.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.995613	0.00435	.	.	ENSG00000145721	ENST00000274382;ENST00000512378	T	0.40756	1.02	5.24	3.05	0.35203	.	0.433718	0.26359	N	0.024833	T	0.11836	0.0288	N	0.01576	-0.805	0.20821	N	0.999846	B	0.21905	0.062	B	0.21546	0.035	T	0.35674	-0.9779	10	0.02654	T	1	-3.9203	4.6366	0.12527	0.4356:0.0:0.5644:0.0	.	47	Q8N485	LIX1_HUMAN	E	47;23	ENSP00000274382:A47E	ENSP00000274382:A47E	A	-	2	0	LIX1	96486032	0.866000	0.29940	0.153000	0.22517	0.099000	0.18886	3.422000	0.52749	1.341000	0.45600	0.491000	0.48974	GCA		0.488	LIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250625.1	NM_153234		10	270	1	0	1.33987e-11	1	1.68629e-11	10	270				
MYO7B	4648	broad.mit.edu	37	2	128367240	128367240	+	Missense_Mutation	SNP	C	C	T	rs557693820		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:128367240C>T	ENST00000409816.2	+	22	3006	c.2974C>T	c.(2974-2976)Cgg>Tgg	p.R992W	MYO7B_ENST00000389524.4_Missense_Mutation_p.R992W|MYO7B_ENST00000428314.1_Missense_Mutation_p.R992W			Q6PIF6	MYO7B_HUMAN	myosin VIIB	992	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACACATCCGGCGGCCCCTCCG	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		18218	0.001		0.0	False		,,,				2504	0.0					ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(2974-2976)Cgg>Tgg		myosin VIIB							89.0	100.0	97.0					2																	128367240		2007	4164	6171	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128367240C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2974C>T	2.37:g.128367240C>T	ENSP00000386461:p.Arg992Trp		Somatic				MYO7B_ENST00000428314.1_Missense_Mutation_p.R992W|MYO7B_ENST00000409816.2_Missense_Mutation_p.R992W	p.R992W			WXS	Illumina GAIIx	Phase_I	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	23	3027	+	Colorectal(110;0.1)		992			MyTH4 1.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.2974C>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875891	0.51695	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.88818	-2.43;-2.43;-2.43	5.28	2.06	0.26882	MyTH4 domain (2);	0.587434	0.16502	N	0.211620	D	0.91597	0.7345	M	0.81497	2.545	0.09310	N	0.999994	D	0.69078	0.997	P	0.50192	0.634	D	0.85555	0.1224	10	0.87932	D	0	.	15.8703	0.79115	0.7215:0.2785:0.0:0.0	.	992	Q6PIF6	MYO7B_HUMAN	W	992	ENSP00000374175:R992W;ENSP00000415090:R992W;ENSP00000386461:R992W	ENSP00000374175:R992W	R	+	1	2	MYO7B	128083710	0.025000	0.19082	0.101000	0.21167	0.678000	0.39670	0.737000	0.26144	0.046000	0.15833	0.561000	0.74099	CGG		0.587	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		3	54	0	0	0	1	0	3	54				
DCAF17	80067	broad.mit.edu	37	2	172314880	172314880	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:172314880A>T	ENST00000375255.3	+	8	1059		c.e8-1		DCAF17_ENST00000539783.1_Splice_Site|DCAF17_ENST00000468592.1_Intron	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17						protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						TTTTGTTTTTAGTTCATGCAA	0.358																																						ENST00000375255.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						c.e8-1		DDB1 and CUL4 associated factor 17							94.0	89.0	91.0					2																	172314880		1853	4098	5951	SO:0001630	splice_region_variant	80067					CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus		g.chr2:172314880A>T	AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"""DDB1 and CUL4 associated factors"""	25784	protein-coding gene	gene with protein product	"""Woodhouse-Sakati syndrome"""	612515	"""chromosome 2 open reading frame 37"""	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.733-1A>T	2.37:g.172314880A>T			Somatic				DCAF17_ENST00000539783.1_Splice_Site|DCAF17_ENST00000468592.1_Intron		NM_025000.3	NP_079276.2	WXS	Illumina GAIIx	Phase_I	Q5H9S7	DCA17_HUMAN			8	1059	+								B2RTW5|Q53TN3|Q9H908	Splice_Site	SNP	ENST00000375255.3	37		CCDS2243.2	.	.	.	.	.	.	.	.	.	.	A	20.4	3.984850	0.74474	.	.	ENSG00000115827	ENST00000375255;ENST00000539783	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6994	0.77533	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DCAF17	172023126	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.803000	0.75180	2.192000	0.70111	0.477000	0.44152	.		0.358	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255342.2	NM_025000	Intron	10	112	0	0	0	1	0	10	112				
C12orf4	57102	broad.mit.edu	37	12	4628042	4628042	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:4628042C>A	ENST00000261250.3	-	7	820	c.733G>T	c.(733-735)Gaa>Taa	p.E245*	C12orf4_ENST00000545746.1_Nonsense_Mutation_p.E245*	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	245				E -> G (in Ref. 2; CAE46058). {ECO:0000305}.						NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		ACTTTAATTTCCTCACTAAAA	0.299																																						ENST00000261250.3																			0				NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13						c.(733-735)Gaa>Taa		chromosome 12 open reading frame 4							54.0	53.0	53.0					12																	4628042		2202	4293	6495	SO:0001587	stop_gained	57102							g.chr12:4628042C>A	AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.733G>T	12.37:g.4628042C>A	ENSP00000261250:p.Glu245*		Somatic				C12orf4_ENST00000545746.1_Nonsense_Mutation_p.E245*	p.E245*	NM_020374.2	NP_065107.1	WXS	Illumina GAIIx	Phase_I	Q9NQ89	CL004_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)	7	820	-			245	E -> G (in Ref. 2; CAE46058).				D3DUQ8|Q6MZH5	Nonsense_Mutation	SNP	ENST00000261250.3	37	c.733G>T	CCDS8528.1	.	.	.	.	.	.	.	.	.	.	C	37	6.078469	0.97262	.	.	ENSG00000047621	ENST00000261250;ENST00000545746;ENST00000541014	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	18.3049	0.90177	0.0:1.0:0.0:0.0	.	.	.	.	X	245;245;72	.	ENSP00000261250:E245X	E	-	1	0	C12orf4	4498303	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	5.198000	0.65147	2.637000	0.89404	0.585000	0.79938	GAA		0.299	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398992.1	NM_020374		9	35	1	0	0.335167	1	0.337459	9	35				
GUF1	60558	broad.mit.edu	37	4	44696433	44696433	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:44696433G>T	ENST00000281543.5	+	14	1812	c.1618G>T	c.(1618-1620)Gat>Tat	p.D540Y	RP11-700J17.1_ENST00000610260.1_RNA|GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						TTTTAGTTTTGATTACGAAGA	0.343																																						ENST00000281543.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.(1618-1620)Gat>Tat		GUF1 GTPase homolog (S. cerevisiae)							83.0	85.0	84.0					4																	44696433		2203	4298	6501	SO:0001583	missense	60558				translation	mitochondrial inner membrane	GTP binding|GTPase activity	g.chr4:44696433G>T		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1618G>T	4.37:g.44696433G>T	ENSP00000281543:p.Asp540Tyr		Somatic				GUF1_ENST00000506793.1_3'UTR	p.D540Y	NM_021927.2	NP_068746.2	WXS	Illumina GAIIx	Phase_I	Q8N442	GUF1_HUMAN			14	1812	+			540						Missense_Mutation	SNP	ENST00000281543.5	37	c.1618G>T	CCDS3468.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313895	0.81358	.	.	ENSG00000151806	ENST00000281543	T	0.64438	-0.1	5.41	5.41	0.78517	Elongation factor G/III/V (1);Translation elongation factor EFG/EF2, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.87079	0.6088	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91600	0.5294	10	0.87932	D	0	-19.6991	18.1904	0.89805	0.0:0.0:1.0:0.0	.	540	Q8N442	GUF1_HUMAN	Y	540	ENSP00000281543:D540Y	ENSP00000281543:D540Y	D	+	1	0	GUF1	44391190	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.389000	0.97243	2.540000	0.85666	0.591000	0.81541	GAT		0.343	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927		4	44	1	0	2.56e-06	1	3.00367e-06	4	44				
YTHDF2	51441	broad.mit.edu	37	1	29069235	29069235	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:29069235C>G	ENST00000373812.3	+	4	815	c.453C>G	c.(451-453)agC>agG	p.S151R	YTHDF2_ENST00000542507.1_Missense_Mutation_p.S151R|YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_Missense_Mutation_p.S101R	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	151	Localization to mRNA processing bodies (P-bodies).				humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GATATAGTAGCAATTATGCTT	0.448																																						ENST00000373812.3																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(451-453)agC>agG		YTH domain family, member 2							107.0	98.0	101.0					1																	29069235		1914	4122	6036	SO:0001583	missense	51441				humoral immune response			g.chr1:29069235C>G	AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"""YTH domain family 2"""			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.453C>G	1.37:g.29069235C>G	ENSP00000362918:p.Ser151Arg		Somatic				YTHDF2_ENST00000541996.1_Missense_Mutation_p.S101R|YTHDF2_ENST00000542507.1_Missense_Mutation_p.S151R|YTHDF2_ENST00000478283.1_3'UTR	p.S151R	NM_016258.2	NP_057342.2	WXS	Illumina GAIIx	Phase_I	Q9Y5A9	YTHD2_HUMAN		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	4	815	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	151					A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Missense_Mutation	SNP	ENST00000373812.3	37	c.453C>G	CCDS41296.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787405	0.31593	.	.	ENSG00000198492	ENST00000542507;ENST00000373812;ENST00000541996;ENST00000396232	T;T;T	0.47177	0.85;0.85;0.85	5.38	4.46	0.54185	.	0.038059	0.85682	D	0.000000	T	0.40956	0.1138	L	0.60455	1.87	0.53005	D	0.999963	P;P	0.45044	0.849;0.849	B;B	0.39027	0.288;0.288	T	0.42799	-0.9430	10	0.72032	D	0.01	-25.0293	7.563	0.27862	0.0:0.749:0.0:0.251	.	151;151	B5BU99;Q9Y5A9	.;YTHD2_HUMAN	R	151;151;101;151	ENSP00000444660:S151R;ENSP00000362918:S151R;ENSP00000439394:S101R	ENSP00000362918:S151R	S	+	3	2	YTHDF2	28941822	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.541000	0.45735	1.410000	0.46936	0.580000	0.79431	AGC		0.448	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010335.1	NM_016258		203	129	0	0	0	1	0	203	129				
PRTFDC1	56952	broad.mit.edu	37	10	25138782	25138782	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:25138782A>G	ENST00000320152.6	-	9	697	c.669T>C	c.(667-669)taT>taC	p.Y223Y	PRTFDC1_ENST00000376378.1_3'UTR	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	223					nucleoside metabolic process (GO:0009116)	cytosol (GO:0005829)	magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						TTTAGACTCGATATTTTTCTT	0.398																																						ENST00000320152.6																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						c.(667-669)taT>taC		phosphoribosyl transferase domain containing 1							226.0	192.0	203.0					10																	25138782		2202	4300	6502	SO:0001819	synonymous_variant	56952				adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity	g.chr10:25138782A>G	AF226056	CCDS7145.1, CCDS60506.1	10p12.31	2003-11-10			ENSG00000099256	ENSG00000099256			23333	protein-coding gene	gene with protein product		610751					Standard	XM_005252537		Approved	HHGP	uc001ise.1	Q9NRG1	OTTHUMG00000017829	ENST00000320152.6:c.669T>C	10.37:g.25138782A>G			Somatic				PRTFDC1_ENST00000376378.1_3'UTR	p.Y223Y	NM_020200.5	NP_064585.1	WXS	Illumina GAIIx	Phase_I	Q9NRG1	PRDC1_HUMAN			9	697	-			223					B7Z1Z3|Q53HA7|Q59EL9|Q5VV18|Q5VV20	Silent	SNP	ENST00000320152.6	37	c.669T>C	CCDS7145.1																																																																																				0.398	PRTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047243.2	NM_020200		4	335	0	0	0	1	0	4	335				
PLD1	5337	broad.mit.edu	37	3	171394541	171394541	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:171394541C>T	ENST00000351298.4	-	18	2205	c.2079G>A	c.(2077-2079)gtG>gtA	p.V693V	PLD1_ENST00000342215.6_Nonsense_Mutation_p.W584*|PLD1_ENST00000340989.4_Silent_p.V693V|PLD1_ENST00000356327.5_Silent_p.V655V	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	693	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AGTGACGTGCCACATCACGAG	0.542																																					NSCLC(149;2174 3517 34058)	ENST00000342215.6																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.(1750-1752)tGg>tAg		phospholipase D1, phosphatidylcholine-specific	Choline(DB00122)						96.0	88.0	91.0					3																	171394541		2203	4300	6503	SO:0001819	synonymous_variant	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171394541C>T	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2079G>A	3.37:g.171394541C>T			Somatic				PLD1_ENST00000351298.4_Silent_p.V693V|PLD1_ENST00000340989.4_Silent_p.V693V|PLD1_ENST00000356327.5_Silent_p.V655V	p.W584*			WXS	Illumina GAIIx	Phase_I	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		16	1866	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		0			Catalytic.			Nonsense_Mutation	SNP	ENST00000351298.4	37	c.1751G>A	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	C	39	7.745089	0.98465	.	.	ENSG00000075651	ENST00000342215	.	.	.	5.81	1.57	0.23409	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4212	5.3168	0.15860	0.2631:0.4797:0.193:0.0641	.	.	.	.	X	584	.	ENSP00000339936:W584X	W	-	2	0	PLD1	172877235	0.974000	0.33945	0.979000	0.43373	0.951000	0.60555	0.172000	0.16704	0.774000	0.33427	0.557000	0.71058	TGG		0.542	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		53	512	0	0	0	1	0	53	512				
FRYL	285527	broad.mit.edu	37	4	48523234	48523234	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:48523234T>A	ENST00000503238.1	-	52	7521		c.e52-2		FRYL_ENST00000537810.1_Splice_Site|FRYL_ENST00000507873.2_Splice_Site|FRYL_ENST00000358350.4_Splice_Site|FRYL_ENST00000264319.7_Splice_Site			O94915	FRYL_HUMAN	FRY-like						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ACTGTTTAACTAAAAAGAGAA	0.373																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.e55-2		FRY-like							83.0	77.0	79.0					4																	48523234		1846	4091	5937	SO:0001630	splice_region_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48523234T>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.7522-2A>T	4.37:g.48523234T>A			Somatic				FRYL_ENST00000507873.2_Splice_Site|FRYL_ENST00000503238.1_Splice_Site|FRYL_ENST00000358350.4_Splice_Site|FRYL_ENST00000264319.7_Splice_Site				WXS	Illumina GAIIx	Phase_I	O94915	FRYL_HUMAN			55	8126	-								O95640|Q8WTZ5|Q9NT40	Splice_Site	SNP	ENST00000503238.1	37		CCDS43227.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.743302	0.49151	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000514617	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7555	0.78021	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FRYL	48217991	1.000000	0.71417	0.198000	0.23420	0.024000	0.10985	7.698000	0.84413	2.126000	0.65437	0.460000	0.39030	.		0.373	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2		Intron	13	210	0	0	0	1	0	13	210				
DPP6	1804	broad.mit.edu	37	7	154379738	154379738	+	Intron	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:154379738C>T	ENST00000377770.3	+	6	768				DPP6_ENST00000427557.1_Intron|DPP6_ENST00000406326.1_Missense_Mutation_p.P336S|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000404039.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6						cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCTGCTCACCCCGGGGATAAT	0.592																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000406326.1																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(1006-1008)Ccg>Tcg		dipeptidyl-peptidase 6							148.0	133.0	138.0					7																	154379738		876	1991	2867	SO:0001627	intron_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154379738C>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.628-49793C>T	7.37:g.154379738C>T			Somatic				DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000427557.1_Intron	p.P336S			WXS	Illumina GAIIx	Phase_I	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		6	1409	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	0						Missense_Mutation	SNP	ENST00000377770.3	37	c.1006C>T		.	.	.	.	.	.	.	.	.	.	C	7.002	0.555110	0.13436	.	.	ENSG00000130226	ENST00000406326	.	.	.	3.14	2.25	0.28309	.	.	.	.	.	T	0.30166	0.0756	.	.	.	0.09310	N	0.999999	B	0.13145	0.007	B	0.11329	0.006	T	0.27191	-1.0081	7	0.87932	D	0	.	6.2133	0.20642	0.0:0.861:0.0:0.139	.	336	Q8IYG9	.	S	336	.	ENSP00000384393:P336S	P	+	1	0	DPP6	154010671	0.000000	0.05858	0.014000	0.15608	0.103000	0.19146	0.215000	0.17562	0.862000	0.35528	0.455000	0.32223	CCG		0.592	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		6	951	0	0	0	1	0	6	951				
SPICE1	152185	broad.mit.edu	37	3	113169185	113169185	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:113169185G>A	ENST00000295872.4	-	15	2580	c.2321C>T	c.(2320-2322)aCt>aTt	p.T774I		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	774					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TGACCAACCAGTCCATGCTCT	0.373																																						ENST00000295872.4																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(2320-2322)aCt>aTt		spindle and centriole associated protein 1							112.0	101.0	105.0					3																	113169185		2203	4300	6503	SO:0001583	missense	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113169185G>A	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.2321C>T	3.37:g.113169185G>A	ENSP00000295872:p.Thr774Ile		Somatic					p.T774I	NM_144718.3	NP_653319.1	WXS	Illumina GAIIx	Phase_I	Q8N0Z3	SPICE_HUMAN			15	2580	-			774					D3DN72|Q8WUX6	Missense_Mutation	SNP	ENST00000295872.4	37	c.2321C>T	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617513	0.66787	.	.	ENSG00000163611	ENST00000295872	T	0.42900	0.96	5.48	4.59	0.56863	.	0.250624	0.35291	N	0.003316	T	0.54046	0.1834	M	0.68952	2.095	0.29471	N	0.857021	P;P	0.51351	0.944;0.9	P;P	0.53722	0.733;0.651	T	0.58020	-0.7710	10	0.66056	D	0.02	-11.6581	13.0957	0.59190	0.0:0.0:0.8392:0.1608	.	670;774	B3KX77;Q8N0Z3	.;SPICE_HUMAN	I	774	ENSP00000295872:T774I	ENSP00000295872:T774I	T	-	2	0	SPICE1	114651875	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.814000	0.55643	1.402000	0.46780	0.650000	0.86243	ACT		0.373	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		4	128	0	0	0	1	0	4	128				
BPTF	2186	broad.mit.edu	37	17	65955683	65955683	+	Silent	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:65955683T>A	ENST00000321892.4	+	26	8392	c.8331T>A	c.(8329-8331)atT>atA	p.I2777I	BPTF_ENST00000306378.6_Silent_p.I2651I|BPTF_ENST00000335221.5_Silent_p.I2634I|BPTF_ENST00000424123.3_Silent_p.I2495I			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2777					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACCTGAAAATTAAGAAAGAAA	0.488																																						ENST00000321892.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(8329-8331)atT>atA		bromodomain PHD finger transcription factor							53.0	58.0	56.0					17																	65955683		2202	4300	6502	SO:0001819	synonymous_variant	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65955683T>A	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.8331T>A	17.37:g.65955683T>A			Somatic				BPTF_ENST00000424123.3_Silent_p.I2495I|BPTF_ENST00000306378.6_Silent_p.I2651I|BPTF_ENST00000335221.5_Silent_p.I2634I	p.I2777I			WXS	Illumina GAIIx	Phase_I	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		26	8392	+	all_cancers(12;6e-11)		2777					Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37	c.8331T>A																																																																																					0.488	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		5	115	0	0	0	1	0	5	115				
OR52N5	390075	broad.mit.edu	37	11	5799370	5799370	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:5799370C>A	ENST00000317093.2	-	1	527	c.495G>T	c.(493-495)atG>atT	p.M165I	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GGAAAGGAATCATCAGCAATA	0.463																																						ENST00000317093.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33						c.(493-495)atG>atT		olfactory receptor, family 52, subfamily N, member 5							158.0	129.0	139.0					11																	5799370		2123	4094	6217	SO:0001583	missense	390075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5799370C>A	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.495G>T	11.37:g.5799370C>A	ENSP00000322866:p.Met165Ile		Somatic				TRIM5_ENST00000380027.1_Intron	p.M165I	NM_001001922.2	NP_001001922.2	WXS	Illumina GAIIx	Phase_I	Q8NH56	O52N5_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	527	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	165					B9EH12|Q6IFG2	Missense_Mutation	SNP	ENST00000317093.2	37	c.495G>T	CCDS31397.1	.	.	.	.	.	.	.	.	.	.	C	0.109	-1.141746	0.01728	.	.	ENSG00000181009	ENST00000317093	T	0.36699	1.24	3.7	1.48	0.22813	GPCR, rhodopsin-like superfamily (1);	0.211367	0.22711	U	0.056565	T	0.09905	0.0243	N	0.01522	-0.82	0.24700	N	0.993261	B	0.06786	0.001	B	0.14023	0.01	T	0.25984	-1.0116	10	0.12103	T	0.63	.	3.0296	0.06102	0.1731:0.4764:0.2515:0.099	.	165	Q8NH56	O52N5_HUMAN	I	165	ENSP00000322866:M165I	ENSP00000322866:M165I	M	-	3	0	OR52N5	5755946	0.000000	0.05858	0.927000	0.36925	0.344000	0.29017	-2.508000	0.00960	0.183000	0.20059	0.494000	0.49563	ATG		0.463	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922		5	347	1	0	0.0215528	1	0.0225882	5	347				
STAT6	6778	broad.mit.edu	37	12	57500503	57500503	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:57500503G>T	ENST00000300134.3	-	5	776	c.451C>A	c.(451-453)Ctg>Atg	p.L151M	STAT6_ENST00000454075.3_Missense_Mutation_p.L151M|STAT6_ENST00000543873.2_Missense_Mutation_p.L151M|STAT6_ENST00000556155.1_Missense_Mutation_p.L151M|STAT6_ENST00000537215.2_Missense_Mutation_p.L41M|STAT6_ENST00000538913.2_Missense_Mutation_p.L41M	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	151					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CCCTTCTGCAGGGCTTCTCGG	0.577																																						ENST00000300134.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(451-453)Ctg>Atg		signal transducer and activator of transcription 6, interleukin-4 induced							74.0	83.0	80.0					12																	57500503		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57500503G>T	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.451C>A	12.37:g.57500503G>T	ENSP00000300134:p.Leu151Met		Somatic				STAT6_ENST00000454075.3_Missense_Mutation_p.L151M|STAT6_ENST00000543873.2_Missense_Mutation_p.L151M|STAT6_ENST00000538913.2_Missense_Mutation_p.L41M|STAT6_ENST00000537215.2_Missense_Mutation_p.L41M|STAT6_ENST00000556155.1_Missense_Mutation_p.L151M	p.L151M	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	WXS	Illumina GAIIx	Phase_I	P42226	STAT6_HUMAN			5	776	-			151					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.451C>A	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909142	0.33721	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516;ENST00000555849;ENST00000556259;ENST00000553499	T;T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95;-0.95	4.96	0.993	0.19825	STAT transcription factor, all-alpha (1);STAT transcription factor, coiled coil (1);	0.384213	0.23219	N	0.050585	T	0.71796	0.3382	L	0.29908	0.895	0.36149	D	0.847356	P;D	0.89917	0.773;1.0	B;D	0.81914	0.27;0.995	T	0.70310	-0.4907	10	0.39692	T	0.17	-5.6424	3.4473	0.07484	0.287:0.0:0.5336:0.1795	.	151;151	A8K4S9;P42226	.;STAT6_HUMAN	M	151;41;41;151;151;41;151;41;151;151;133;151	ENSP00000300134:L151M;ENSP00000445409:L41M;ENSP00000438451:L151M;ENSP00000451742:L151M;ENSP00000444530:L41M;ENSP00000401486:L151M	ENSP00000300134:L151M	L	-	1	2	STAT6	55786770	0.584000	0.26766	0.338000	0.25549	0.151000	0.21798	0.814000	0.27239	0.216000	0.20781	0.655000	0.94253	CTG		0.577	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		38	386	1	0	1.69475e-38	1	2.30002e-38	38	386				
POC1B	282809	broad.mit.edu	37	12	89890946	89890946	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:89890946A>T	ENST00000313546.3	-	3	401		c.e3+1		POC1B_ENST00000549504.1_Intron|POC1B_ENST00000378528.2_Splice_Site|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000549035.1_Splice_Site|POC1B_ENST00000393179.4_Intron	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B						cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						TGTTTCTCTTACTTATCAGGA	0.453																																						ENST00000313546.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						c.e3+1		POC1 centriolar protein B							121.0	126.0	124.0					12																	89890946		2203	4300	6503	SO:0001630	splice_region_variant	282809							g.chr12:89890946A>T	AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.272+1T>A	12.37:g.89890946A>T			Somatic				POC1B_ENST00000378528.2_Splice_Site|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000549035.1_Splice_Site|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000541909.1_Intron		NM_172240.2	NP_758440.1	WXS	Illumina GAIIx	Phase_I					3	401	-								G3V1X0	Splice_Site	SNP	ENST00000313546.3	37		CCDS31869.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.128424	0.77549	.	.	ENSG00000139323	ENST00000313546;ENST00000549035	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2484	0.73523	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POC1B	88415077	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.095000	0.94175	2.088000	0.63022	0.383000	0.25322	.		0.453	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240	Intron	6	156	0	0	0	1	0	6	156				
ZNF17	7565	broad.mit.edu	37	19	57932141	57932141	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:57932141C>T	ENST00000601808.1	+	3	1494	c.1281C>T	c.(1279-1281)tcC>tcT	p.S427S	ZNF17_ENST00000307658.7_Silent_p.S429S|AC004076.7_ENST00000597410.1_Intron	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	427					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		TGGACACTTCCACACTCATTA	0.383																																					Melanoma(149;1637 1853 29914 42869 44988)	ENST00000307658.7																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1285-1287)tcC>tcT		zinc finger protein 17							77.0	81.0	79.0					19																	57932141		2195	4298	6493	SO:0001819	synonymous_variant	7565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57932141C>T	X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.1281C>T	19.37:g.57932141C>T			Somatic				AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000601808.1_Silent_p.S427S	p.S429S			WXS	Illumina GAIIx	Phase_I	P17021	ZNF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)	4	1550	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	427					B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Silent	SNP	ENST00000601808.1	37	c.1287C>T	CCDS42636.1																																																																																				0.383	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959		4	165	0	0	0	1	0	4	165				
TANGO6	79613	broad.mit.edu	37	16	68961602	68961602	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:68961602C>A	ENST00000261778.1	+	13	2271	c.2259C>A	c.(2257-2259)gcC>gcA	p.A753A	RP11-521L9.1_ENST00000562790.1_lincRNA	NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	753						integral component of membrane (GO:0016021)											CCCATGGAGCCTTTGCCACTG	0.493																																						ENST00000261778.1																			0											c.(2257-2259)gcC>gcA		transport and golgi organization 6 homolog (Drosophila)							148.0	147.0	147.0					16																	68961602		2038	4220	6258	SO:0001819	synonymous_variant	79613							g.chr16:68961602C>A		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.2259C>A	16.37:g.68961602C>A			Somatic				RP11-521L9.1_ENST00000562790.1_lincRNA	p.A753A	NM_024562.1	NP_078838.1	WXS	Illumina GAIIx	Phase_I					13	2271	+								Q569F9|Q9H9K1	Silent	SNP	ENST00000261778.1	37	c.2259C>A	CCDS45516.1																																																																																				0.493	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		62	351	1	0	9.12251e-31	1	1.22395e-30	62	351				
OR8U1	219417	broad.mit.edu	37	11	56143231	56143231	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:56143231T>C	ENST00000302270.1	+	1	132	c.132T>C	c.(130-132)ggT>ggC	p.G44G		NM_001005204.1	NP_001005204.1	Q8NH10	OR8U1_HUMAN	olfactory receptor, family 8, subfamily U, member 1	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					GCAACTTGGGTTTGATCCTAC	0.423																																						ENST00000302270.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39						c.(130-132)ggT>ggC		olfactory receptor, family 8, subfamily U, member 1							312.0	277.0	288.0					11																	56143231		1942	4150	6092	SO:0001819	synonymous_variant	219417							g.chr11:56143231T>C	AB065603	CCDS41647.1	11q11	2012-08-09			ENSG00000172199	ENSG00000172199		"""GPCR / Class A : Olfactory receptors"""	19611	protein-coding gene	gene with protein product							Standard	NM_001005204		Approved			Q8NH10	OTTHUMG00000166860	ENST00000302270.1:c.132T>C	11.37:g.56143231T>C			Somatic					p.G44G	NM_001005204.1	NP_001005204.1	WXS	Illumina GAIIx	Phase_I					1	132	+	Esophageal squamous(21;0.00448)								Silent	SNP	ENST00000302270.1	37	c.132T>C	CCDS41647.1																																																																																				0.423	OR8U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391607.1	NM_001005204		5	730	0	0	0	1	0	5	730				
CPA5	93979	broad.mit.edu	37	7	130008311	130008311	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:130008311G>A	ENST00000485477.1	+	12	2313	c.1184G>A	c.(1183-1185)aGc>aAc	p.S395N	CPA5_ENST00000355388.3_Missense_Mutation_p.S395N|CPA5_ENST00000461828.1_Missense_Mutation_p.S395N|CPA5_ENST00000393213.3_Missense_Mutation_p.S395N|CPA5_ENST00000474905.1_Missense_Mutation_p.S395N|CPA5_ENST00000431780.2_Missense_Mutation_p.A367T|CPA5_ENST00000466363.2_Missense_Mutation_p.S395N			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	395						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TACGCCTTCAGCTTTGAGCTC	0.567																																						ENST00000485477.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23						c.(1183-1185)aGc>aAc		carboxypeptidase A5							153.0	134.0	140.0					7																	130008311		2203	4300	6503	SO:0001583	missense	93979				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130008311G>A	AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.1184G>A	7.37:g.130008311G>A	ENSP00000420237:p.Ser395Asn		Somatic				CPA5_ENST00000393213.3_Missense_Mutation_p.S395N|CPA5_ENST00000355388.3_Missense_Mutation_p.S395N|CPA5_ENST00000466363.2_Missense_Mutation_p.S395N|CPA5_ENST00000474905.1_Missense_Mutation_p.S395N|CPA5_ENST00000461828.1_Missense_Mutation_p.S395N|CPA5_ENST00000431780.2_Missense_Mutation_p.A367T	p.S395N			WXS	Illumina GAIIx	Phase_I	Q8WXQ8	CBPA5_HUMAN			12	2313	+	Melanoma(18;0.0435)		395					G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	ENST00000485477.1	37	c.1184G>A	CCDS5819.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.47|14.47	2.546222|2.546222	0.45383|0.45383	.|.	.|.	ENSG00000158525|ENSG00000158525	ENST00000431780;ENST00000479492|ENST00000355388;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000474905;ENST00000393213	T|T;T;T;T;T;T	0.12774|0.03386	2.65|3.95;3.95;3.95;3.95;3.95;3.95	5.81|5.81	0.429|0.429	0.16506|0.16506	.|Peptidase M14, carboxypeptidase A (2);	.|0.335361	.|0.29480	.|N	.|0.012032	T|T	0.06280|0.06280	0.0162|0.0162	L|L	0.49126|0.49126	1.545|1.545	0.26105|0.26105	N|N	0.980764|0.980764	P|P	0.35272|0.36495	0.493|0.556	B|B	0.30495|0.43018	0.116|0.405	T|T	0.19224|0.19224	-1.0312|-1.0312	8|9	.|.	.|.	.|.	.|.	13.7715|13.7715	0.63029|0.63029	0.0:0.5372:0.3683:0.0945|0.0:0.5372:0.3683:0.0945	.|.	367|395	G3V0G8|Q8WXQ8	.|CBPA5_HUMAN	T|N	367;44|395	ENSP00000393045:A367T|ENSP00000347549:S395N;ENSP00000418183:S395N;ENSP00000419025:S395N;ENSP00000420237:S395N;ENSP00000417314:S395N;ENSP00000376907:S395N	.|.	A|S	+|+	1|2	0|0	CPA5|CPA5	129795547|129795547	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.021000|0.021000	0.10359|0.10359	2.040000|2.040000	0.41203|0.41203	0.065000|0.065000	0.16485|0.16485	-0.181000|-0.181000	0.13052|0.13052	GCT|AGC		0.567	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441		17	151	0	0	0	1	0	17	151				
MUC16	94025	broad.mit.edu	37	19	9089937	9089937	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:9089937T>C	ENST00000397910.4	-	1	2081	c.1878A>G	c.(1876-1878)ctA>ctG	p.L626L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	626	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						CTCTGGTGAGTAGGTGGGTTG	0.577																																						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.(1876-1878)ctA>ctG		mucin 16, cell surface associated							99.0	102.0	101.0					19																	9089937		2195	4292	6487	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089937T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1878A>G	19.37:g.9089937T>C			Somatic					p.L626L	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			1	2081	-			626			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.1878A>G	CCDS54212.1																																																																																				0.577	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	318	0	0	0	1	0	6	318				
ZNF462	58499	broad.mit.edu	37	9	109688351	109688351	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:109688351G>T	ENST00000277225.5	+	3	2447	c.2158G>T	c.(2158-2160)Gtt>Ttt	p.V720F	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.V720F			Q96JM2	ZN462_HUMAN	zinc finger protein 462	720					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGTGATCAATGTTGAGGATGA	0.463																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2158-2160)Gtt>Ttt		zinc finger protein 462							157.0	137.0	144.0					9																	109688351		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109688351G>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.2158G>T	9.37:g.109688351G>T	ENSP00000277225:p.Val720Phe		Somatic				ZNF462_ENST00000457913.1_Missense_Mutation_p.V720F	p.V720F			WXS	Illumina GAIIx	Phase_I	Q96JM2	ZN462_HUMAN			3	2447	+			720					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.2158G>T	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765417	0.49574	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.07908	3.15;3.59	5.87	5.87	0.94306	.	0.062044	0.64402	D	0.000004	T	0.15262	0.0368	N	0.24115	0.695	0.80722	D	1	D;P	0.63880	0.993;0.936	P;P	0.59889	0.865;0.578	T	0.05209	-1.0899	9	.	.	.	.	18.4032	0.90525	0.0:0.0:1.0:0.0	.	720;720	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	F	720	ENSP00000277225:V720F;ENSP00000414570:V720F	.	V	+	1	0	ZNF462	108728172	1.000000	0.71417	0.618000	0.29105	0.990000	0.78478	4.011000	0.57124	2.778000	0.95560	0.650000	0.86243	GTT		0.463	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		53	558	1	0	2.78941e-39	1	3.79437e-39	53	558				
TG	7038	broad.mit.edu	37	8	133923676	133923676	+	Nonsense_Mutation	SNP	C	C	T	rs114157534		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:133923676C>T	ENST00000220616.4	+	19	4097	c.4057C>T	c.(4057-4059)Cag>Tag	p.Q1353*	TG_ENST00000377869.1_Nonsense_Mutation_p.Q1353*	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1353					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTCCTCTGTGCAGGTGGGTTG	0.478																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(4057-4059)Cag>Tag		thyroglobulin							227.0	201.0	210.0					8																	133923676		2203	4300	6503	SO:0001587	stop_gained	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133923676C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4057C>T	8.37:g.133923676C>T	ENSP00000220616:p.Gln1353*		Somatic				TG_ENST00000377869.1_Nonsense_Mutation_p.Q1353*	p.Q1353*	NM_003235.4	NP_003226.4	WXS	Illumina GAIIx	Phase_I	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	19	4097	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1353					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Nonsense_Mutation	SNP	ENST00000220616.4	37	c.4057C>T	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	41	8.885716	0.98990	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616	.	.	.	5.51	3.68	0.42216	.	0.901857	0.09603	N	0.779998	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	8.9932	0.36037	0.1686:0.6692:0.1622:0.0	.	.	.	.	X	1353;159;1353	.	ENSP00000220616:Q1353X	Q	+	1	0	TG	133992858	0.101000	0.21875	0.656000	0.29637	0.292000	0.27327	0.769000	0.26604	0.650000	0.30769	0.557000	0.71058	CAG		0.478	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		5	584	0	0	0	1	0	5	584				
AJUBA	84962	broad.mit.edu	37	14	23445729	23445729	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:23445729T>A	ENST00000262713.2	-	4	1552		c.e4-2		AJUBA_ENST00000397388.3_Splice_Site|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Splice_Site	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein						calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CCCTGAAAACTAAAGTAAAAG	0.453																																						ENST00000262713.2																			0											c.e4-2		ajuba LIM protein							139.0	148.0	145.0					14																	23445729		2203	4300	6503	SO:0001630	splice_region_variant	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23445729T>A	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1177-2A>T	14.37:g.23445729T>A			Somatic				AJUBA_ENST00000397388.3_Splice_Site|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Splice_Site		NM_032876.4	NP_116265.1	WXS	Illumina GAIIx	Phase_I	Q96IF1	JUB_HUMAN			4	1552	-								A8MX18|D3DS37	Splice_Site	SNP	ENST00000262713.2	37		CCDS9581.1	.	.	.	.	.	.	.	.	.	.	T	18.28	3.589107	0.66105	.	.	ENSG00000129474	ENST00000262713;ENST00000361265	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6896	0.62537	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	JUB	22515569	1.000000	0.71417	0.925000	0.36789	0.783000	0.44284	7.311000	0.78958	2.126000	0.65437	0.482000	0.46254	.		0.453	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2		Intron	15	680	0	0	0	1	0	15	680				
WDR5B	54554	broad.mit.edu	37	3	122133439	122133439	+	Missense_Mutation	SNP	C	C	T	rs199965922		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:122133439C>T	ENST00000330689.4	-	1	1443	c.937G>A	c.(937-939)Gca>Aca	p.A313T	RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000608465.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	313										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		GCTGCTGATGCGATGAGGTTT	0.383																																						ENST00000330689.4																			0				kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13						c.(937-939)Gca>Aca		WD repeat domain 5B							139.0	127.0	131.0					3																	122133439		2203	4300	6503	SO:0001583	missense	54554							g.chr3:122133439C>T	AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"""WD repeat domain containing"""	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.937G>A	3.37:g.122133439C>T	ENSP00000330381:p.Ala313Thr		Somatic					p.A313T	NM_019069.3	NP_061942.2	WXS	Illumina GAIIx	Phase_I	Q86VZ2	WDR5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0704)	1	1443	-			313					B2RCM9|Q9NUL4	Missense_Mutation	SNP	ENST00000330689.4	37	c.937G>A	CCDS3012.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498295	0.85069	.	.	ENSG00000196981	ENST00000330689	T	0.70282	-0.47	4.77	4.77	0.60923	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	0.83792	0.5331	M	0.92604	3.325	0.80722	D	1	D	0.67145	0.996	P	0.53649	0.731	D	0.88285	0.2939	10	0.87932	D	0	.	15.7027	0.77555	0.0:1.0:0.0:0.0	.	313	Q86VZ2	WDR5B_HUMAN	T	313	ENSP00000330381:A313T	ENSP00000330381:A313T	A	-	1	0	WDR5B	123616129	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.838000	0.75359	2.644000	0.89710	0.561000	0.74099	GCA		0.383	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355753.1	NM_019069		7	288	0	0	0	1	0	7	288				
KIAA1211	57482	broad.mit.edu	37	4	57182295	57182295	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:57182295G>T	ENST00000504228.1	+	6	2732	c.2627G>T	c.(2626-2628)gGa>gTa	p.G876V	KIAA1211_ENST00000264229.6_Missense_Mutation_p.G876V|KIAA1211_ENST00000541073.1_Missense_Mutation_p.G869V			Q6ZU35	K1211_HUMAN	KIAA1211	876										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGCAGCACCGGAGACAGCGCG	0.572																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(2626-2628)gGa>gTa		KIAA1211							40.0	49.0	46.0					4																	57182295		2186	4290	6476	SO:0001583	missense	57482							g.chr4:57182295G>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2627G>T	4.37:g.57182295G>T	ENSP00000423366:p.Gly876Val		Somatic				KIAA1211_ENST00000264229.6_Missense_Mutation_p.G876V|KIAA1211_ENST00000541073.1_Missense_Mutation_p.G869V	p.G876V			WXS	Illumina GAIIx	Phase_I	Q6ZU35	K1211_HUMAN			6	2732	+	Glioma(25;0.08)|all_neural(26;0.101)		876					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.2627G>T	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	34	5.298534	0.95574	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.52295	0.68;0.68;0.67	5.5	5.5	0.81552	.	.	.	.	.	T	0.70055	0.3180	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.992;0.992	T	0.72653	-0.4228	9	0.87932	D	0	-36.3178	19.3957	0.94605	0.0:0.0:1.0:0.0	.	869;869;876	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	V	876;876;869;786	ENSP00000264229:G876V;ENSP00000423366:G876V;ENSP00000444006:G869V	ENSP00000264229:G876V	G	+	2	0	KIAA1211	56877052	1.000000	0.71417	0.646000	0.29493	0.413000	0.31143	9.334000	0.96470	2.579000	0.87056	0.561000	0.74099	GGA		0.572	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		5	46	1	0	3.59834e-05	1	4.06798e-05	5	46				
ATG13	9776	broad.mit.edu	37	11	46690111	46690111	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:46690111G>C	ENST00000434074.1	+	14	1904	c.1215G>C	c.(1213-1215)gaG>gaC	p.E405D	ATG13_ENST00000530500.1_Missense_Mutation_p.E289D|ATG13_ENST00000526508.1_Missense_Mutation_p.E405D|ATG13_ENST00000359513.4_Missense_Mutation_p.E405D|ATG13_ENST00000524625.1_Missense_Mutation_p.E368D|ATG13_ENST00000528494.1_Missense_Mutation_p.E438D|ATG13_ENST00000529655.1_Missense_Mutation_p.E368D|ATG13_ENST00000451945.1_Missense_Mutation_p.E368D|ATG13_ENST00000312040.4_Missense_Mutation_p.E405D	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	405					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						TGGAGCTGGAGGATACCGATC	0.517																																						ENST00000434074.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						c.(1213-1215)gaG>gaC		autophagy related 13							155.0	138.0	144.0					11																	46690111		2201	4299	6500	SO:0001583	missense	9776				autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr11:46690111G>C	AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"""KIAA0652"", ""ATG13 autophagy related 13 homolog (S. cerevisiae)"""	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.1215G>C	11.37:g.46690111G>C	ENSP00000400642:p.Glu405Asp		Somatic				ATG13_ENST00000359513.4_Missense_Mutation_p.E405D|ATG13_ENST00000528494.1_Missense_Mutation_p.E438D|ATG13_ENST00000526508.1_Missense_Mutation_p.E405D|ATG13_ENST00000530500.1_Missense_Mutation_p.E289D|ATG13_ENST00000529655.1_Missense_Mutation_p.E368D|ATG13_ENST00000524625.1_Missense_Mutation_p.E368D|ATG13_ENST00000312040.4_Missense_Mutation_p.E405D|ATG13_ENST00000451945.1_Missense_Mutation_p.E368D	p.E405D	NM_001205120.1	NP_001192049.1	WXS	Illumina GAIIx	Phase_I	O75143	ATG13_HUMAN			14	1904	+			405					B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Missense_Mutation	SNP	ENST00000434074.1	37	c.1215G>C	CCDS44582.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564799	0.45694	.	.	ENSG00000175224	ENST00000395549;ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494;ENST00000525009	.	.	.	5.75	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.65512	0.2698	L	0.53249	1.67	0.49798	D	0.999824	D;D;D;D	0.76494	0.999;0.998;0.998;0.997	D;D;D;D	0.77557	0.911;0.986;0.99;0.99	T	0.60647	-0.7222	9	0.18276	T	0.48	-14.5707	8.6173	0.33840	0.2874:0.0:0.7126:0.0	.	289;405;438;368	B4DFI4;O75143;E9PQZ8;O75143-2	.;ATG13_HUMAN;.;.	D	368;405;405;368;368;289;405;368;405;438;137	.	ENSP00000310321:E405D	E	+	3	2	ATG13	46646687	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.373000	0.44266	0.770000	0.33336	0.655000	0.94253	GAG		0.517	ATG13-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390300.2	NM_014741		122	93	0	0	0	1	0	122	93				
KIF23	9493	broad.mit.edu	37	15	69733351	69733351	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:69733351C>A	ENST00000260363.4	+	18	2429	c.2312C>A	c.(2311-2313)aCt>aAt	p.T771N	KIF23_ENST00000558585.1_Intron|KIF23_ENST00000352331.4_Intron|KIF23_ENST00000537891.1_Intron|KIF23_ENST00000559279.1_Intron|KIF23_ENST00000395392.2_Missense_Mutation_p.T771N	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	771					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						ATGTACTGGACTGAAGGCAGG	0.468																																						ENST00000260363.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						c.(2311-2313)aCt>aAt		kinesin family member 23							114.0	88.0	97.0					15																	69733351		2199	4298	6497	SO:0001583	missense	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69733351C>A	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.2312C>A	15.37:g.69733351C>A	ENSP00000260363:p.Thr771Asn		Somatic				KIF23_ENST00000395392.2_Missense_Mutation_p.T771N|KIF23_ENST00000537891.1_Intron|KIF23_ENST00000352331.4_Intron|KIF23_ENST00000559279.1_Intron|KIF23_ENST00000558585.1_Intron	p.T771N	NM_138555.2	NP_612565.1	WXS	Illumina GAIIx	Phase_I	Q02241	KIF23_HUMAN			18	2429	+			771					Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	c.2312C>A	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.302850	0.23736	.	.	ENSG00000137807	ENST00000260363;ENST00000395392	T;T	0.74737	-0.87;-0.86	5.21	3.28	0.37604	.	0.537613	0.18664	N	0.134636	T	0.48259	0.1490	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31806	-0.9930	10	0.14656	T	0.56	.	6.2717	0.20959	0.1382:0.6531:0.1337:0.075	.	771	Q02241	KIF23_HUMAN	N	771	ENSP00000260363:T771N;ENSP00000378790:T771N	ENSP00000260363:T771N	T	+	2	0	KIF23	67520405	0.987000	0.35691	1.000000	0.80357	0.996000	0.88848	0.947000	0.29082	1.315000	0.45114	0.555000	0.69702	ACT		0.468	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding				12	477	1	0	1.62849e-17	1	2.1174e-17	12	477				
A2M	2	broad.mit.edu	37	12	9224978	9224978	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:9224978G>T	ENST00000318602.7	-	31	4387	c.4080C>A	c.(4078-4080)agC>agA	p.S1360R		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1360					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	AGATTTGGAAGCTGGTGTGGG	0.438																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(4078-4080)agC>agA		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						140.0	141.0	141.0					12																	9224978		2029	4233	6262	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9224978G>T	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.4080C>A	12.37:g.9224978G>T	ENSP00000323929:p.Ser1360Arg		Somatic					p.S1360R	NM_000014.4	NP_000005.2	WXS	Illumina GAIIx	Phase_I	P01023	A2MG_HUMAN			31	4387	-			1360					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.4080C>A	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074654	0.36566	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.29917	1.55	5.99	4.15	0.48705	Alpha-macroglobulin, receptor-binding (2);	0.889884	0.10096	N	0.716532	T	0.30572	0.0769	M	0.67625	2.065	0.31865	N	0.620469	B	0.29378	0.243	B	0.22601	0.04	T	0.28235	-1.0050	10	0.48119	T	0.1	.	8.0333	0.30478	0.1234:0.1428:0.7338:0.0	.	1360	P01023	A2MG_HUMAN	R	1360;1375	ENSP00000323929:S1360R	ENSP00000323929:S1360R	S	-	3	2	A2M	9116245	0.996000	0.38824	1.000000	0.80357	0.779000	0.44077	0.920000	0.28705	2.840000	0.97914	0.655000	0.94253	AGC		0.438	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		10	446	1	0	5.50884e-06	1	6.42516e-06	10	446				
USP11	8237	broad.mit.edu	37	X	47103931	47103931	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:47103931G>T	ENST00000218348.3	+	14	1954	c.1954G>T	c.(1954-1956)Gac>Tac	p.D652Y	USP11_ENST00000377107.2_Missense_Mutation_p.D609Y	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	652	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						AGATGATGAGGACGATGGGGA	0.567																																						ENST00000377107.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						c.(1825-1827)Gac>Tac		ubiquitin specific peptidase 11							80.0	64.0	69.0					X																	47103931		2203	4300	6503	SO:0001583	missense	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47103931G>T	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.1954G>T	X.37:g.47103931G>T	ENSP00000218348:p.Asp652Tyr		Somatic				USP11_ENST00000218348.3_Missense_Mutation_p.D652Y	p.D609Y			WXS	Illumina GAIIx	Phase_I	P51784	UBP11_HUMAN			14	2179	+			652					B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	c.1825G>T	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736666	0.49045	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.22134	1.98;1.97	5.29	5.29	0.74685	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.135832	0.33496	N	0.004844	T	0.36026	0.0952	L	0.47716	1.5	0.41565	D	0.988659	P;D	0.67145	0.828;0.996	P;P	0.62014	0.82;0.897	T	0.08743	-1.0707	10	0.62326	D	0.03	-11.0471	13.3561	0.60629	0.0:0.0:1.0:0.0	.	379;652	B3KP28;P51784	.;UBP11_HUMAN	Y	609;652	ENSP00000366311:D609Y;ENSP00000218348:D652Y	ENSP00000218348:D652Y	D	+	1	0	USP11	46988875	0.985000	0.35326	0.853000	0.33588	0.876000	0.50452	4.870000	0.63035	2.217000	0.71921	0.600000	0.82982	GAC		0.567	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		7	94	1	0	5.68852e-11	1	7.11368e-11	7	94				
SIRPB2	284759	broad.mit.edu	37	20	1460483	1460483	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:1460483G>A	ENST00000359801.3	-	2	349	c.313C>T	c.(313-315)Cca>Tca	p.P105S	SIRPB2_ENST00000444444.2_Intron|SIRPB2_ENST00000608747.1_Intron|SIRPB2_ENST00000537284.1_Intron	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	98	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAATTCAGTGGTTCTGATGTC	0.453																																						ENST00000359801.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(313-315)Cca>Tca		signal-regulatory protein beta 2							142.0	126.0	131.0					20																	1460483		1568	3582	5150	SO:0001583	missense	284759					integral to membrane		g.chr20:1460483G>A	AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16247	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type 1-like"", ""protein tyrosine phosphatase, non-receptor type substrate 1-like 3"""	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.313C>T	20.37:g.1460483G>A	ENSP00000352849:p.Pro105Ser		Somatic				SIRPB2_ENST00000537284.1_Intron|SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000381630.1_Intron	p.P105S	NM_001122962.1	NP_001116434.1	WXS	Illumina GAIIx	Phase_I	Q5JXA9	SIRB2_HUMAN			2	349	-			105			Ig-like V-type 1.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000359801.3	37	c.313C>T	CCDS42849.1	.	.	.	.	.	.	.	.	.	.	G	0.093	-1.163380	0.01673	.	.	ENSG00000196209	ENST00000359801	T	0.66638	-0.22	4.13	2.04	0.26737	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.084330	0.07281	N	0.870786	T	0.54127	0.1839	L	0.47716	1.5	0.09310	N	0.999999	B	0.31769	0.339	B	0.30646	0.118	T	0.35895	-0.9770	10	0.10902	T	0.67	-28.0729	5.9314	0.19140	0.2597:0.0:0.7403:0.0	.	105	Q5JXA9	SIRB2_HUMAN	S	105	ENSP00000352849:P105S	ENSP00000352849:P105S	P	-	1	0	SIRPB2	1408483	0.004000	0.15560	0.011000	0.14972	0.874000	0.50279	0.710000	0.25748	0.473000	0.27368	0.655000	0.94253	CCA		0.453	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1	NM_178459		5	423	0	0	0	1	0	5	423				
CPB2	1361	broad.mit.edu	37	13	46632347	46632347	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr13:46632347A>T	ENST00000181383.4	-	9	982	c.966T>A	c.(964-966)taT>taA	p.Y322*	CPB2_ENST00000439329.3_Nonsense_Mutation_p.Y285*|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606243.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	322					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		TACTTCGTGTATAGGAATATG	0.338																																						ENST00000181383.4																			0				NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(964-966)taT>taA		carboxypeptidase B2 (plasma)							181.0	171.0	175.0					13																	46632347		2203	4300	6503	SO:0001587	stop_gained	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46632347A>T	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.966T>A	13.37:g.46632347A>T	ENSP00000181383:p.Tyr322*		Somatic				CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Nonsense_Mutation_p.Y285*|CPB2-AS1_ENST00000606351.1_RNA	p.Y322*	NM_001872.3	NP_001863.3	WXS	Illumina GAIIx	Phase_I	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	9	982	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	322					A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Nonsense_Mutation	SNP	ENST00000181383.4	37	c.966T>A	CCDS9401.1	.	.	.	.	.	.	.	.	.	.	A	11.41	1.631208	0.28978	.	.	ENSG00000080618	ENST00000181383;ENST00000439329	.	.	.	5.86	-5.7	0.02421	.	0.048144	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.7748	0.85548	0.318:0.0:0.682:0.0	.	.	.	.	X	322;285	.	ENSP00000181383:Y322X	Y	-	3	2	CPB2	45530348	0.997000	0.39634	0.087000	0.20705	0.233000	0.25261	0.476000	0.22180	-0.840000	0.04206	-0.408000	0.06270	TAT		0.338	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872		14	1764	0	0	0	1	0	14	1764				
PDE4D	5144	broad.mit.edu	37	5	59064302	59064302	+	Intron	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:59064302C>G	ENST00000340635.6	-	1	631				PDE4D_ENST00000507116.1_Missense_Mutation_p.V12L|PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000502575.1_Missense_Mutation_p.V12L|PDE4D_ENST00000546160.1_Intron	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific						adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	ACTTCAGGTACTGTTAAAGTG	0.517																																						ENST00000507116.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(34-36)Gta>Cta		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						252.0	235.0	240.0					5																	59064302		876	1991	2867	SO:0001627	intron_variant	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:59064302C>G		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.455+124692G>C	5.37:g.59064302C>G			Somatic				PDE4D_ENST00000340635.6_Intron|PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000502575.1_Missense_Mutation_p.V12L|PDE4D_ENST00000546160.1_Intron	p.V12L	NM_001197218.1	NP_001184147.1	WXS	Illumina GAIIx	Phase_I	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	1	169	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	0					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	c.34G>C	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489925	0.64074	.	.	ENSG00000113448	ENST00000507116;ENST00000502575	T;D	0.82984	-0.4;-1.67	5.36	5.36	0.76844	.	.	.	.	.	D	0.88299	0.6399	.	.	.	0.80722	D	1	P;P	0.47910	0.902;0.902	P;P	0.61722	0.893;0.893	D	0.83892	0.0285	8	0.19147	T	0.46	.	18.9003	0.92440	0.0:1.0:0.0:0.0	.	12;12	Q08499-12;Q08499-6	.;.	L	12	ENSP00000424852:V12L;ENSP00000425917:V12L	ENSP00000308485:V12L	V	-	1	0	PDE4D	59100059	1.000000	0.71417	0.293000	0.24932	0.798000	0.45092	5.559000	0.67326	2.783000	0.95769	0.655000	0.94253	GTA		0.517	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			4	311	0	0	0	1	0	4	311				
NAB2	4665	broad.mit.edu	37	12	57484919	57484919	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:57484919G>A	ENST00000300131.3	+	2	473	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	NAB2_ENST00000357680.4_Missense_Mutation_p.R32Q|NAB2_ENST00000554718.1_Intron|NAB2_ENST00000342556.6_Missense_Mutation_p.R32Q	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	32					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CCCAGTGCCCGAGCCATGGCA	0.607																																						ENST00000300131.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(94-96)cGa>cAa		NGFI-A binding protein 2 (EGR1 binding protein 2)							43.0	45.0	44.0					12																	57484919		2202	4300	6502	SO:0001583	missense	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57484919G>A	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.95G>A	12.37:g.57484919G>A	ENSP00000300131:p.Arg32Gln		Somatic				NAB2_ENST00000554718.1_Intron|NAB2_ENST00000342556.6_Missense_Mutation_p.R32Q|NAB2_ENST00000357680.4_Missense_Mutation_p.R32Q	p.R32Q	NM_005967.3	NP_005958.1	WXS	Illumina GAIIx	Phase_I	Q15742	NAB2_HUMAN			2	473	+			32					B2RAK3|O76006|Q14797	Missense_Mutation	SNP	ENST00000300131.3	37	c.95G>A	CCDS8930.1	.	.	.	.	.	.	.	.	.	.	G	9.956	1.221497	0.22457	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	.	.	.	4.49	0.00621	0.14066	Nab, N-terminal (1);	1.392950	0.05199	N	0.504555	T	0.17831	0.0428	N	0.08118	0	0.23776	N	0.996873	B	0.19331	0.035	B	0.12837	0.008	T	0.20371	-1.0277	9	0.24483	T	0.36	2.73	5.0007	0.14262	0.1941:0.393:0.4129:0.0	.	32	Q15742	NAB2_HUMAN	Q	32	.	ENSP00000300131:R32Q	R	+	2	0	NAB2	55771186	0.756000	0.28383	0.989000	0.46669	0.984000	0.73092	0.110000	0.15437	0.107000	0.17824	0.655000	0.94253	CGA		0.607	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		3	73	0	0	0	1	0	3	73				
IFNB1	3456	broad.mit.edu	37	9	21077375	21077375	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:21077375G>A	ENST00000380232.2	-	1	568	c.494C>T	c.(493-495)aCc>aTc	p.T165I		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	165					adaptive immune response (GO:0002250)|B cell activation involved in immune response (GO:0002312)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of viral genome replication (GO:0045071)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)		TCTGACTATGGTCCAGGCACA	0.468																																						ENST00000380232.2																			0				breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12						c.(493-495)aCc>aTc		interferon, beta 1, fibroblast	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)						160.0	156.0	157.0					9																	21077375		2203	4300	6503	SO:0001583	missense	3456				activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity	g.chr9:21077375G>A		CCDS6495.1	9p22	2008-07-21			ENSG00000171855	ENSG00000171855		"""Interferons"""	5434	protein-coding gene	gene with protein product		147640		IFNB			Standard	NM_002176		Approved	IFB, IFF	uc003zok.3	P01574	OTTHUMG00000019652	ENST00000380232.2:c.494C>T	9.37:g.21077375G>A	ENSP00000369581:p.Thr165Ile		Somatic					p.T165I	NM_002176.2	NP_002167.1	WXS	Illumina GAIIx	Phase_I	P01574	IFNB_HUMAN		GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	1	568	-			165					Q5VWC9	Missense_Mutation	SNP	ENST00000380232.2	37	c.494C>T	CCDS6495.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.403682	0.42613	.	.	ENSG00000171855	ENST00000380232	T	0.17854	2.25	5.45	0.515	0.17013	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.342349	0.30538	N	0.009407	T	0.29158	0.0725	M	0.74881	2.28	0.20074	N	0.999938	D	0.56968	0.978	P	0.60236	0.871	T	0.07558	-1.0766	10	0.87932	D	0	-0.0816	3.6292	0.08124	0.2446:0.0:0.298:0.4574	.	165	P01574	IFNB_HUMAN	I	165	ENSP00000369581:T165I	ENSP00000369581:T165I	T	-	2	0	IFNB1	21067375	0.073000	0.21202	0.286000	0.24833	0.381000	0.30169	0.119000	0.15626	0.226000	0.20979	0.650000	0.86243	ACC		0.468	IFNB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051881.1	NM_002176		5	601	0	0	0	1	0	5	601				
TRPC4AP	26133	broad.mit.edu	37	20	33590973	33590973	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:33590973T>C	ENST00000252015.2	-	19	2459	c.2370A>G	c.(2368-2370)atA>atG	p.I790M	TRPC4AP_ENST00000432634.2_Missense_Mutation_p.I751M|TRPC4AP_ENST00000539834.1_Missense_Mutation_p.I392M|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.I782M			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	790					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGTCCCTGTCTATGTCCATGT	0.597																																						ENST00000252015.2																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(2368-2370)atA>atG		transient receptor potential cation channel, subfamily C, member 4 associated protein							103.0	85.0	91.0					20																	33590973		2203	4300	6503	SO:0001583	missense	26133				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	g.chr20:33590973T>C	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.2370A>G	20.37:g.33590973T>C	ENSP00000252015:p.Ile790Met		Somatic				TRPC4AP_ENST00000539834.1_Missense_Mutation_p.I392M|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.I751M|TRPC4AP_ENST00000451813.1_Missense_Mutation_p.I782M	p.I790M			WXS	Illumina GAIIx	Phase_I	Q8TEL6	TP4AP_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		19	2459	-			790					E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	c.2370A>G	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	T	13.29	2.191914	0.38707	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000539834;ENST00000432634;ENST00000541994	.	.	.	4.79	3.63	0.41609	.	0.179546	0.51477	D	0.000089	T	0.26484	0.0647	N	0.22421	0.69	0.43126	D	0.994858	P;P;P	0.40476	0.531;0.718;0.531	B;B;B	0.33690	0.168;0.168;0.168	T	0.13710	-1.0499	9	0.87932	D	0	.	4.7969	0.13277	0.2771:0.0905:0.0:0.6324	.	751;782;790	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	M	790;782;392;751;775	.	ENSP00000252015:I790M	I	-	3	3	TRPC4AP	33054634	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.466000	0.35310	1.997000	0.58415	0.460000	0.39030	ATA		0.597	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		3	117	0	0	0	1	0	3	117				
RRAS2	22800	broad.mit.edu	37	11	14316410	14316410	+	Splice_Site	SNP	T	T	A	rs201547693		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:14316410T>A	ENST00000256196.4	-	3	510		c.e3-2		RRAS2_ENST00000534746.1_Splice_Site|RRAS2_ENST00000537760.1_Splice_Site|RRAS2_ENST00000532814.1_Splice_Site|RRAS2_ENST00000414023.2_Splice_Site|RRAS2_ENST00000545643.1_Splice_Site|RRAS2_ENST00000526063.1_Splice_Site|RRAS2_ENST00000529237.1_Splice_Site			P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2						osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		TATCCAAAACTAAAGAAAAAA	0.398																																						ENST00000545643.1																			0				breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12						c.e3-2		related RAS viral (r-ras) oncogene homolog 2							81.0	85.0	84.0					11																	14316410		2200	4294	6494	SO:0001630	splice_region_variant	22800					endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr11:14316410T>A	M31468	CCDS7814.1, CCDS44544.1, CCDS53603.1	11p15.2	2014-05-09			ENSG00000133818	ENSG00000133818			17271	protein-coding gene	gene with protein product		600098				2108320, 8052619	Standard	NM_012250		Approved	TC21	uc001mlf.4	P62070	OTTHUMG00000165756	ENST00000256196.4:c.197-2A>T	11.37:g.14316410T>A			Somatic				RRAS2_ENST00000537760.1_Splice_Site|RRAS2_ENST00000534746.1_Splice_Site|RRAS2_ENST00000414023.2_Splice_Site|RRAS2_ENST00000256196.4_Splice_Site|RRAS2_ENST00000532814.1_Splice_Site|RRAS2_ENST00000526063.1_Splice_Site|RRAS2_ENST00000529237.1_Splice_Site		NM_012250.5	NP_036382.2	WXS	Illumina GAIIx	Phase_I	P62070	RRAS2_HUMAN		Epithelial(150;0.203)	3	528	-								B2R9Z3|B7Z5Z2|B7Z6C4|B7Z7H6|P17082	Splice_Site	SNP	ENST00000256196.4	37		CCDS7814.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.814905	0.70912	.	.	ENSG00000133818	ENST00000537760;ENST00000545643;ENST00000256196;ENST00000531807	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7521	0.69533	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RRAS2	14272986	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.503000	0.81632	2.031000	0.59945	0.482000	0.46254	.		0.398	RRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386035.1	NM_012250	Intron	5	76	0	0	0	1	0	5	76				
RANBP2	5903	broad.mit.edu	37	2	109371359	109371359	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:109371359A>T	ENST00000283195.6	+	16	2328		c.e16-1			NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTTTATTTTTAGTTGCCTGTG	0.323																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.e16-1		RAN binding protein 2							48.0	53.0	51.0					2																	109371359		2141	4265	6406	SO:0001630	splice_region_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371359A>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2203-1A>T	2.37:g.109371359A>T			Somatic						NM_006267.4	NP_006258.3	WXS	Illumina GAIIx	Phase_I	P49792	RBP2_HUMAN			16	2328	+								Q13074|Q15280|Q53TE2|Q59FH7	Splice_Site	SNP	ENST00000283195.6	37		CCDS2079.1	.	.	.	.	.	.	.	.	.	.	a	21.8	4.203270	0.79127	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0881	0.81073	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RANBP2	108737791	1.000000	0.71417	0.995000	0.50966	0.955000	0.61496	7.429000	0.80309	2.193000	0.70182	0.443000	0.29094	.		0.323	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	Intron	7	479	0	0	0	1	0	7	479				
DNAH9	1770	broad.mit.edu	37	17	11701058	11701058	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:11701058G>T	ENST00000262442.4	+	43	8436	c.8368G>T	c.(8368-8370)Gaa>Taa	p.E2790*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.E2790*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2790	AAA 4. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAACCACAATGAAGTCAACAC	0.483																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(8368-8370)Gaa>Taa		dynein, axonemal, heavy chain 9							219.0	162.0	181.0					17																	11701058		2203	4300	6503	SO:0001587	stop_gained	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11701058G>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8368G>T	17.37:g.11701058G>T	ENSP00000262442:p.Glu2790*		Somatic				DNAH9_ENST00000454412.2_Nonsense_Mutation_p.E2790*	p.E2790*	NM_001372.3	NP_001363.2	WXS	Illumina GAIIx	Phase_I	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	43	8436	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2790			AAA 4 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Nonsense_Mutation	SNP	ENST00000262442.4	37	c.8368G>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	50	16.680918	0.99869	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	.	.	.	5.68	4.7	0.59300	.	0.191740	0.44688	D	0.000425	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.0102	0.71545	0.0688:0.0:0.9312:0.0	.	.	.	.	X	2790;2790;1372	.	ENSP00000262442:E2790X	E	+	1	0	DNAH9	11641783	1.000000	0.71417	0.938000	0.37757	0.878000	0.50629	6.644000	0.74338	1.388000	0.46506	0.650000	0.86243	GAA		0.483	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		6	202	1	0	1.06961e-07	1	1.28049e-07	6	202				
DDX42	11325	broad.mit.edu	37	17	61897195	61897195	+	IGR	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:61897195A>T	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Silent_p.R837R	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TTTGTTCCTTACGTTGCTGTG	0.537																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(2509-2511)cgT>cgA		FtsJ homolog 3 (E. coli)							301.0	257.0	272.0					17																	61897195		2203	4300	6503	SO:0001628	intergenic_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61897195A>T	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61897195A>T			Somatic					p.R837R	NM_017647.3	NP_060117.3	WXS	Illumina GAIIx	Phase_I	Q8IY81	RRMJ3_HUMAN			21	3156	-			837					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Silent	SNP	ENST00000578681.1	37	c.2511T>A	CCDS32704.1																																																																																				0.537	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		9	478	0	0	0	1	0	9	478				
DCDC1	341019	broad.mit.edu	37	11	30974117	30974117	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:30974117T>A	ENST00000597505.1	-	19	2591		c.e19-2		DCDC1_ENST00000406071.2_Splice_Site|DCDC1_ENST00000437348.1_Intron|DCDC1_ENST00000339794.5_Splice_Site			P59894	DCDC1_HUMAN	doublecortin domain containing 1						intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ATGGCCCACCTAAAACAAAAG	0.333																																						ENST00000597505.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.e19-2		doublecortin domain containing 1							99.0	83.0	88.0					11																	30974117		1812	4070	5882	SO:0001630	splice_region_variant	341019				intracellular signal transduction			g.chr11:30974117T>A	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.2592-2A>T	11.37:g.30974117T>A			Somatic				DCDC1_ENST00000406071.2_Splice_Site|DCDC1_ENST00000339794.5_Splice_Site|DCDC1_ENST00000437348.1_Intron				WXS	Illumina GAIIx	Phase_I	P59894	DCDC1_HUMAN			19	2591	-	Lung SC(675;0.225)							A6PVL6|B7WNX6|Q6ZU04	Splice_Site	SNP	ENST00000597505.1	37																																																																																						0.333	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807	Intron	3	15	0	0	0	1	0	3	15				
HOOK2	29911	broad.mit.edu	37	19	12883471	12883471	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:12883471G>A	ENST00000397668.3	-	6	485	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L	HOOK2_ENST00000264827.5_Silent_p.L138L|HOOK2_ENST00000589965.1_Intron	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	138	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GATTCTTCCAGCGTCATGATT	0.572																																						ENST00000264827.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						c.(412-414)Ctg>Ttg		hook microtubule-tethering protein 2							189.0	178.0	181.0					19																	12883471		1963	4147	6110	SO:0001819	synonymous_variant	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12883471G>A	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.412C>T	19.37:g.12883471G>A			Somatic				HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Silent_p.L138L	p.L138L	NM_001100176.1	NP_001093646.1	WXS	Illumina GAIIx	Phase_I	Q96ED9	HOOK2_HUMAN			6	582	-			138			Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules.		O60562	Silent	SNP	ENST00000397668.3	37	c.412C>T	CCDS42508.1																																																																																				0.572	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		5	742	0	0	0	1	0	5	742				
RBM43	375287	broad.mit.edu	37	2	152112258	152112258	+	Splice_Site	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:152112258C>A	ENST00000331426.5	-	2	155		c.e2-1			NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43								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)		AAACTGATGCCTGTAAGAGAA	0.358																																						ENST00000331426.5																			0				endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8						c.e2-1		RNA binding motif protein 43							62.0	58.0	60.0					2																	152112258		2203	4300	6503	SO:0001630	splice_region_variant	375287						nucleotide binding|RNA binding	g.chr2:152112258C>A	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.4-1G>T	2.37:g.152112258C>A			Somatic						NM_198557.2	NP_940959.1	WXS	Illumina GAIIx	Phase_I	Q6ZSC3	RBM43_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	2	155	-								B2RMT5	Splice_Site	SNP	ENST00000331426.5	37		CCDS2191.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016776	0.54576	.	.	ENSG00000184898	ENST00000331426	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8223	0.57700	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RBM43	151820504	1.000000	0.71417	0.999000	0.59377	0.837000	0.47467	3.865000	0.56033	2.419000	0.82065	0.313000	0.20887	.		0.358	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254816.2	NM_198557	Intron	6	58	1	0	0.0215528	1	0.0225882	6	58				
TSR1	55720	broad.mit.edu	37	17	2227510	2227510	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:2227510G>A	ENST00000301364.5	-	15	3474	c.2395C>T	c.(2395-2397)Cct>Tct	p.P799S	SRR_ENST00000344595.5_3'UTR	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	799					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						CCCCCTTGAGGCACTGTTGAA	0.463																																						ENST00000301364.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(2395-2397)Cct>Tct		TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)							163.0	153.0	156.0					17																	2227510		2203	4300	6503	SO:0001583	missense	55720				ribosome assembly	nucleolus	protein binding	g.chr17:2227510G>A	AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"""TSR1, 20S rRNA accumulation, homolog (yeast)"""			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.2395C>T	17.37:g.2227510G>A	ENSP00000301364:p.Pro799Ser		Somatic				SRR_ENST00000344595.5_3'UTR	p.P799S	NM_018128.4	NP_060598.3	WXS	Illumina GAIIx	Phase_I	Q2NL82	TSR1_HUMAN			15	3474	-			799					Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP	ENST00000301364.5	37	c.2395C>T	CCDS32525.1	.	.	.	.	.	.	.	.	.	.	G	1.588	-0.529871	0.04112	.	.	ENSG00000167721	ENST00000301364	T	0.10477	2.87	4.92	2.91	0.33838	.	0.425292	0.26931	N	0.021769	T	0.04407	0.0121	N	0.08118	0	0.22112	N	0.999351	B	0.02656	0.0	B	0.04013	0.001	T	0.45145	-0.9281	10	0.09084	T	0.74	-1.2774	7.9169	0.29822	0.1923:0.0:0.8077:0.0	.	799	Q2NL82	TSR1_HUMAN	S	799	ENSP00000301364:P799S	ENSP00000301364:P799S	P	-	1	0	TSR1	2174260	0.991000	0.36638	0.306000	0.25113	0.005000	0.04900	3.737000	0.55060	0.477000	0.27464	-0.136000	0.14681	CCT		0.463	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128		5	822	0	0	0	1	0	5	822				
NFATC2	4773	broad.mit.edu	37	20	50007990	50007990	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:50007990T>A	ENST00000396009.3	-	10	2942		c.e10-2		NFATC2_ENST00000610033.1_Splice_Site|NFATC2_ENST00000371564.3_Splice_Site|NFATC2_ENST00000609507.1_Splice_Site|NFATC2_ENST00000609943.1_Splice_Site|NFATC2_ENST00000414705.1_Splice_Site	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2						B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TTTCATTAACTACAAAAGAAA	0.458																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.e11-2		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							62.0	70.0	67.0					20																	50007990		2203	4300	6503	SO:0001630	splice_region_variant	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50007990T>A	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.2723-2A>T	20.37:g.50007990T>A			Somatic				NFATC2_ENST00000396009.3_Splice_Site|NFATC2_ENST00000414705.1_Splice_Site		NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	WXS	Illumina GAIIx	Phase_I	Q13469	NFAC2_HUMAN			11	3030	-	Hepatocellular(150;0.248)							B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Splice_Site	SNP	ENST00000396009.3	37		CCDS13437.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.940739	0.73557	.	.	ENSG00000101096	ENST00000396009	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8135	0.78581	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NFATC2	49441397	1.000000	0.71417	0.995000	0.50966	0.911000	0.54048	5.829000	0.69316	2.118000	0.64928	0.533000	0.62120	.		0.458	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340	Intron	8	107	0	0	0	1	0	8	107				
ETV4	2118	broad.mit.edu	37	17	41606987	41606987	+	Missense_Mutation	SNP	C	C	T	rs148198572		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:41606987C>T	ENST00000319349.5	-	11	1311	c.1013G>A	c.(1012-1014)cGg>cAg	p.R338Q	ETV4_ENST00000586826.1_Missense_Mutation_p.R61Q|ETV4_ENST00000591713.1_Missense_Mutation_p.R338Q|ETV4_ENST00000545954.1_Missense_Mutation_p.R299Q|ETV4_ENST00000538265.1_Missense_Mutation_p.R299Q|ETV4_ENST00000393664.2_Missense_Mutation_p.R338Q|ETV4_ENST00000545089.1_Missense_Mutation_p.R284Q	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	338					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		CAGGGCACCCCGGCGCTGGTA	0.582			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""																																Esophageal Squamous(116;1540 1611 12927 31103 34118)	ENST00000319349.5				Dom	yes		17	17q21	2118	T	"""ets variant gene 4 (E1A enhancer binding protein, E1AF)"""			"""M, E"""	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""		"""Ewing sarcoma, Prostate carcinoma"""	EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1012-1014)cGg>cAg		ets variant 4		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	61.0	65.0	64.0		1013,1013	5.2	1.0	17	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ETV4	NM_001079675.1,NM_001986.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	338/485,338/485	41606987	1,13005	2203	4300	6503	SO:0001583	missense	2118				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:41606987C>T	U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"""E1A enhancer binding protein"""	600711	"""ets variant gene 4 (E1A enhancer-binding protein, E1AF)"""			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.1013G>A	17.37:g.41606987C>T	ENSP00000321835:p.Arg338Gln		Somatic				ETV4_ENST00000538265.1_Missense_Mutation_p.R299Q|ETV4_ENST00000591713.1_Missense_Mutation_p.R338Q|ETV4_ENST00000586826.1_Missense_Mutation_p.R61Q|ETV4_ENST00000393664.2_Missense_Mutation_p.R338Q|ETV4_ENST00000545954.1_Missense_Mutation_p.R299Q|ETV4_ENST00000545089.1_Missense_Mutation_p.R284Q	p.R338Q	NM_001079675.2	NP_001073143.1	WXS	Illumina GAIIx	Phase_I	P43268	ETV4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0798)	11	1311	-		Breast(137;0.00908)	338					A8K314|B7Z5J3|B7Z9J6|Q96AW9	Missense_Mutation	SNP	ENST00000319349.5	37	c.1013G>A	CCDS11465.1	.	.	.	.	.	.	.	.	.	.	C	34	5.388755	0.95988	0.0	1.16E-4	ENSG00000175832	ENST00000319349;ENST00000393664;ENST00000538265;ENST00000545954;ENST00000545089	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	6.17	5.21	0.72293	Winged helix-turn-helix transcription repressor DNA-binding (1);PEA3-type ETS-domain transcription factor, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58595	0.2133	M	0.81112	2.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.988;0.991;0.991	T	0.65170	-0.6233	10	0.72032	D	0.01	.	15.7894	0.78343	0.0:0.935:0.0:0.065	.	284;299;338	B7Z5F4;B7Z5J3;P43268	.;.;ETV4_HUMAN	Q	338;338;299;299;284	ENSP00000321835:R338Q;ENSP00000377273:R338Q;ENSP00000443846:R299Q;ENSP00000440023:R299Q;ENSP00000441749:R284Q	ENSP00000321835:R338Q	R	-	2	0	ETV4	38962513	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	7.776000	0.85560	1.626000	0.50381	0.655000	0.94253	CGG		0.582	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453489.1	NM_001986		3	60	0	0	0	1	0	3	60				
PSG2	5670	broad.mit.edu	37	19	43579536	43579536	+	Missense_Mutation	SNP	G	G	A	rs529547477		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:43579536G>A	ENST00000406487.1	-	3	777	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	227	Ig-like C2-type 1.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.R227C(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGGTCACTGCGGCTGGCACTC	0.527																																						ENST00000406487.1																			1	Substitution - Missense(1)	p.R227C(1)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49						c.(679-681)Cgc>Tgc		pregnancy specific beta-1-glycoprotein 2							221.0	233.0	229.0					19																	43579536		2202	4299	6501	SO:0001583	missense	5670				cell migration|female pregnancy	extracellular region		g.chr19:43579536G>A		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.679C>T	19.37:g.43579536G>A	ENSP00000385706:p.Arg227Cys		Somatic					p.R227C	NM_031246.3	NP_112536.2	WXS	Illumina GAIIx	Phase_I	P11465	PSG2_HUMAN			3	777	-		Prostate(69;0.00682)	227			Ig-like C2-type 1.		Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	c.679C>T	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	N	11.11	1.543254	0.27563	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.12774	2.65	1.33	-0.184	0.13280	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.31544	0.0800	M	0.80616	2.505	0.09310	N	1	P;D	0.89917	0.934;1.0	P;D	0.75484	0.712;0.986	T	0.08973	-1.0696	9	0.87932	D	0	.	3.9393	0.09319	0.0:0.0:0.5847:0.4153	.	227;227	B5MCM8;P11465	.;PSG2_HUMAN	C	227	ENSP00000385706:R227C	ENSP00000332984:R227C	R	-	1	0	PSG2	48271376	0.000000	0.05858	0.007000	0.13788	0.074000	0.17049	-0.263000	0.08670	0.703000	0.31848	0.454000	0.30748	CGC		0.527	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		8	427	0	0	0	1	0	8	427				
KIAA1143	57456	broad.mit.edu	37	3	44794950	44794950	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:44794950T>C	ENST00000296121.4	-	3	407	c.348A>G	c.(346-348)tcA>tcG	p.S116S	KIAA1143_ENST00000484437.1_5'UTR	NM_020696.3	NP_065747.1	Q96AT1	K1143_HUMAN	KIAA1143	116										NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		TCTTCTTTTTTGAGCTTGCTG	0.373																																						ENST00000296121.4																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5						c.(346-348)tcA>tcG		KIAA1143							77.0	80.0	79.0					3																	44794950		2203	4297	6500	SO:0001819	synonymous_variant	57456							g.chr3:44794950T>C	AB032969	CCDS2721.1	3p21.31	2005-08-15			ENSG00000163807	ENSG00000163807			29198	protein-coding gene	gene with protein product						10574461	Standard	NM_020696		Approved		uc011bac.2	Q96AT1	OTTHUMG00000133088	ENST00000296121.4:c.348A>G	3.37:g.44794950T>C			Somatic				KIAA1143_ENST00000484437.1_5'UTR	p.S116S	NM_020696.3	NP_065747.1	WXS	Illumina GAIIx	Phase_I	Q96AT1	K1143_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)	3	407	-			116					A8K0I4|Q96HJ8|Q9ULS7	Silent	SNP	ENST00000296121.4	37	c.348A>G	CCDS2721.1																																																																																				0.373	KIAA1143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256746.1	NM_020696		4	143	0	0	0	1	0	4	143				
GPATCH3	63906	broad.mit.edu	37	1	27215502	27215502	+	IGR	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:27215502G>T	ENST00000361720.5	-	0	2123				GPN2_ENST00000461282.1_5'Flank|GPN2_ENST00000374133.3_5'Flank|GPN2_ENST00000374135.4_Missense_Mutation_p.L176I	NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3								nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		TTGGAAAGGAGGTTGATGTGG	0.537																																						ENST00000374135.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(526-528)Ctc>Atc		GPN-loop GTPase 2							262.0	241.0	248.0					1																	27215502		2203	4300	6503	SO:0001628	intergenic_variant	54707						GTP binding	g.chr1:27215502G>T	BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229		1.37:g.27215502G>T			Somatic					p.L176I	NM_018066.3	NP_060536.3	WXS	Illumina GAIIx	Phase_I	Q9H9Y4	GPN2_HUMAN			2	726	-			176					Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	ENST00000361720.5	37	c.526C>A	CCDS290.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398302	0.42512	.	.	ENSG00000142751	ENST00000374135;ENST00000374131;ENST00000431781	T	0.17370	2.28	5.0	0.127	0.14727	.	0.617306	0.15590	N	0.254437	T	0.05960	0.0155	N	0.01219	-0.95	0.80722	D	1	B	0.02656	0.0	B	0.11329	0.006	T	0.31138	-0.9954	10	0.31617	T	0.26	-22.1378	12.5476	0.56208	0.0:0.5253:0.3631:0.1116	.	176	Q9H9Y4	GPN2_HUMAN	I	176;105;105	ENSP00000363250:L176I	ENSP00000363246:L105I	L	-	1	0	GPN2	27088089	0.989000	0.36119	0.998000	0.56505	0.987000	0.75469	0.257000	0.18369	0.129000	0.18514	0.561000	0.74099	CTC		0.537	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	NM_022078		4	276	1	0	1.23904e-05	1	1.42538e-05	4	276				
DLC1	10395	broad.mit.edu	37	8	13251191	13251191	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:13251191T>C	ENST00000276297.4	-	4	1594	c.1185A>G	c.(1183-1185)tcA>tcG	p.S395S	DLC1_ENST00000316609.5_Silent_p.S395S|DLC1_ENST00000511869.1_Silent_p.S395S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	395					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTTCAGATCCTGATTCCAGAT	0.428																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(1183-1185)tcA>tcG		deleted in liver cancer 1							127.0	119.0	122.0					8																	13251191		2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13251191T>C	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1185A>G	8.37:g.13251191T>C			Somatic				DLC1_ENST00000316609.5_Silent_p.S395S|DLC1_ENST00000511869.1_Silent_p.S395S	p.S395S	NM_182643.2	NP_872584.2	WXS	Illumina GAIIx	Phase_I	Q96QB1	RHG07_HUMAN			4	1594	-			395					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.1185A>G	CCDS5989.1																																																																																				0.428	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		8	310	0	0	0	1	0	8	310				
MUC17	140453	broad.mit.edu	37	7	100678590	100678590	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:100678590T>C	ENST00000306151.4	+	3	3957	c.3893T>C	c.(3892-3894)cTt>cCt	p.L1298P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1298	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCTAGCACCCTTTTAACAACT	0.478																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(3892-3894)cTt>cCt		mucin 17, cell surface associated							258.0	246.0	250.0					7																	100678590		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678590T>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3893T>C	7.37:g.100678590T>C	ENSP00000302716:p.Leu1298Pro		Somatic					p.L1298P	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	3957	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1298			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3893T>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	t	0.132	-1.111896	0.01813	.	.	ENSG00000169876	ENST00000306151	T	0.03212	4.01	0.471	-0.686	0.11324	.	.	.	.	.	T	0.01730	0.0055	N	0.19112	0.55	0.09310	N	1	P	0.42993	0.797	B	0.28709	0.093	T	0.48525	-0.9028	8	0.29301	T	0.29	.	.	.	.	.	1298	Q685J3	MUC17_HUMAN	P	1298	ENSP00000302716:L1298P	ENSP00000302716:L1298P	L	+	2	0	MUC17	100465310	0.000000	0.05858	0.002000	0.10522	0.044000	0.14063	-1.367000	0.02583	-0.288000	0.09051	0.113000	0.15668	CTT		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		4	174	0	0	0	1	0	4	174				
TBC1D20	128637	broad.mit.edu	37	20	419442	419442	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:419442G>T	ENST00000354200.4	-	8	1147	c.1000C>A	c.(1000-1002)Cag>Aag	p.Q334K	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	334					acrosome assembly (GO:0001675)|cargo loading into COPII-coated vesicle (GO:0090110)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|lens fiber cell morphogenesis (GO:0070309)|lipid particle organization (GO:0034389)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|seminiferous tubule development (GO:0072520)|virion assembly (GO:0019068)	endoplasmic reticulum membrane (GO:0005789)|integral component of Golgi membrane (GO:0030173)|nuclear membrane (GO:0031965)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				GGCCTCTGCTGGGCTGATGCC	0.547																																						ENST00000354200.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1000-1002)Cag>Aag		TBC1 domain family, member 20							64.0	69.0	68.0					20																	419442		2203	4300	6503	SO:0001583	missense	128637				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity	g.chr20:419442G>T	AK055573	CCDS13002.1	20p13	2013-07-10	2005-01-05	2005-01-05	ENSG00000125875	ENSG00000125875			16133	protein-coding gene	gene with protein product		611663	"""chromosome 20 open reading frame 140"""	C20orf140		17901050	Standard	XM_005260661		Approved	dJ852M4.2	uc002wds.3	Q96BZ9	OTTHUMG00000031637	ENST00000354200.4:c.1000C>A	20.37:g.419442G>T	ENSP00000346139:p.Gln334Lys		Somatic				TBC1D20_ENST00000461188.1_5'UTR	p.Q334K	NM_144628.2	NP_653229.1	WXS	Illumina GAIIx	Phase_I	Q96BZ9	TBC20_HUMAN			8	1147	-		all_epithelial(17;0.228)|Breast(17;0.231)	334					A8K6I3|B9A6M1|Q5JWQ7|Q6ZSY8|Q96NE1|Q9BYM7|Q9H140	Missense_Mutation	SNP	ENST00000354200.4	37	c.1000C>A	CCDS13002.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529219	0.64860	.	.	ENSG00000125875	ENST00000354200;ENST00000246077	T	0.32023	1.47	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.28665	0.0710	L	0.56769	1.78	0.80722	D	1	P	0.36990	0.577	B	0.28011	0.085	T	0.11179	-1.0598	10	0.10111	T	0.7	-26.7701	19.6321	0.95713	0.0:0.0:1.0:0.0	.	334	Q96BZ9	TBC20_HUMAN	K	334;359	ENSP00000346139:Q334K	ENSP00000246077:Q359K	Q	-	1	0	TBC1D20	367442	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.810000	0.86072	2.884000	0.98904	0.655000	0.94253	CAG		0.547	TBC1D20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251397.2	NM_144628		6	105	1	0	0.000157383	1	0.000176569	6	105				
SCN1A	6323	broad.mit.edu	37	2	166900434	166900434	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:166900434G>T	ENST00000303395.4	-	11	1787	c.1788C>A	c.(1786-1788)agC>agA	p.S596R	SCN1A_ENST00000375405.3_Missense_Mutation_p.S596R|SCN1A_ENST00000423058.2_Missense_Mutation_p.S596R|SCN1A_ENST00000409050.1_Missense_Mutation_p.S596R|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	596					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCTCAAAGGTGCTGTGCTCAT	0.507																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(1786-1788)agC>agA		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						169.0	149.0	156.0					2																	166900434		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166900434G>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1788C>A	2.37:g.166900434G>T	ENSP00000303540:p.Ser596Arg		Somatic				SCN1A_ENST00000409050.1_Missense_Mutation_p.S596R|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.S596R|SCN1A_ENST00000303395.4_Missense_Mutation_p.S596R|AC010127.3_ENST00000595268.1_RNA	p.S596R	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	WXS	Illumina GAIIx	Phase_I	P35498	SCN1A_HUMAN			11	1805	-			596					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.1788C>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012799	0.54468	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38	5.37	3.59	0.41128	Domain of unknown function DUF3451 (1);	0.064498	0.64402	D	0.000003	D	0.96562	0.8878	M	0.92555	3.32	0.54753	D	0.999989	D;D;P	0.65815	0.983;0.995;0.899	P;P;P	0.58820	0.731;0.846;0.824	D	0.96290	0.9213	10	0.87932	D	0	.	11.948	0.52938	0.1414:0.0:0.8586:0.0	.	596;596;596	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	R	596	ENSP00000407030:S596R;ENSP00000303540:S596R;ENSP00000364554:S596R;ENSP00000386312:S596R	ENSP00000303540:S596R	S	-	3	2	SCN1A	166608680	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	4.114000	0.57858	0.653000	0.30826	-0.224000	0.12420	AGC		0.507	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		54	417	1	0	1.27862e-28	1	1.70386e-28	54	417				
PARP3	10039	broad.mit.edu	37	3	51980200	51980200	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:51980200C>T	ENST00000417220.2	+	10	1605	c.1117C>T	c.(1117-1119)Cac>Tac	p.H373Y	PARP3_ENST00000431474.1_Missense_Mutation_p.H373Y|PARP3_ENST00000398755.3_Missense_Mutation_p.H380Y			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	373	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATTCCAGGCCCACTCCAAACT	0.587																																						ENST00000417220.2																			0				ovary(1)	1						c.(1117-1119)Cac>Tac		poly (ADP-ribose) polymerase family, member 3							81.0	83.0	82.0					3																	51980200		2098	4212	6310	SO:0001583	missense	10039				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:51980200C>T	AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	273	protein-coding gene	gene with protein product	"""poly(ADP-ribose) synthetase-3"", ""NAD+ ADP-ribosyltransferase 3"", ""poly(ADP-ribose) polymerase 3"""	607726	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"""	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.1117C>T	3.37:g.51980200C>T	ENSP00000395951:p.His373Tyr		Somatic				PARP3_ENST00000398755.3_Missense_Mutation_p.H380Y|PARP3_ENST00000431474.1_Missense_Mutation_p.H373Y	p.H373Y			WXS	Illumina GAIIx	Phase_I	Q9Y6F1	PARP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	10	1605	+			373			PARP catalytic.		Q8NER9|Q96CG2|Q9UG81	Missense_Mutation	SNP	ENST00000417220.2	37	c.1117C>T	CCDS43097.1	.	.	.	.	.	.	.	.	.	.	c	11.16	1.558374	0.27827	.	.	ENSG00000041880	ENST00000417220;ENST00000431474;ENST00000398755	T;T;T	0.14266	2.52;2.52;2.52	5.36	3.59	0.41128	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.141055	0.64402	N	0.000006	T	0.12305	0.0299	L	0.42245	1.32	0.37913	D	0.931438	B;B	0.29627	0.109;0.252	B;B	0.30029	0.023;0.11	T	0.12553	-1.0543	10	0.21014	T	0.42	-26.157	11.9927	0.53184	0.0:0.8594:0.0:0.1406	.	380;373	Q9Y6F1-2;Q9Y6F1	.;PARP3_HUMAN	Y	373;373;380	ENSP00000395951:H373Y;ENSP00000401511:H373Y;ENSP00000381740:H380Y	ENSP00000381740:H380Y	H	+	1	0	PARP3	51955240	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	1.647000	0.37260	0.660000	0.30964	-0.974000	0.02594	CAC		0.587	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348612.2	NM_005485.4		14	142	0	0	0	1	0	14	142				
PCDH11X	27328	broad.mit.edu	37	X	91131958	91131958	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:91131958C>A	ENST00000373094.1	+	2	1564	c.719C>A	c.(718-720)aCt>aAt	p.T240N	PCDH11X_ENST00000395337.2_Missense_Mutation_p.T240N|PCDH11X_ENST00000504220.2_Missense_Mutation_p.T240N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.T240N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T240N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.T240N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.T240N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.T240N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.T240N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	240	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GTGAGTGTTACTGATACAAAT	0.428																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(718-720)aCt>aAt		protocadherin 11 X-linked							221.0	191.0	201.0					X																	91131958		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91131958C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.719C>A	X.37:g.91131958C>A	ENSP00000362186:p.Thr240Asn		Somatic				PCDH11X_ENST00000406881.1_Missense_Mutation_p.T240N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T240N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.T240N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.T240N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.T240N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.T240N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.T240N|PCDH11X_ENST00000504220.1_Missense_Mutation_p.T240N	p.T240N	NM_032968.3	NP_116750.1	WXS	Illumina GAIIx	Phase_I	Q9BZA7	PC11X_HUMAN			2	1564	+			240			Cadherin 2.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.719C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465415	0.43839	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62	4.63	3.53	0.40419	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.305128	0.35378	N	0.003244	T	0.57946	0.2088	M	0.81802	2.56	0.34216	D	0.674878	P;P;P;P;P;P;P;B	0.40602	0.609;0.723;0.609;0.609;0.609;0.661;0.609;0.38	B;P;B;B;B;B;B;B	0.47528	0.197;0.549;0.258;0.258;0.258;0.375;0.197;0.197	T	0.74553	-0.3627	10	0.72032	D	0.01	.	11.7744	0.51977	0.0:0.8913:0.0:0.1087	.	240;240;240;240;240;240;240;240	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	N	240	ENSP00000378746:T240N;ENSP00000362186:T240N;ENSP00000362189:T240N;ENSP00000355040:T240N;ENSP00000362180:T240N;ENSP00000423762:T240N;ENSP00000355105:T240N;ENSP00000384758:T240N;ENSP00000298274:T240N	ENSP00000298274:T240N	T	+	2	0	PCDH11X	91018614	1.000000	0.71417	0.998000	0.56505	0.839000	0.47603	5.790000	0.69038	1.870000	0.54199	0.544000	0.68410	ACT		0.428	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		4	164	1	0	0.00909568	1	0.0096878	4	164				
PRDM9	56979	broad.mit.edu	37	5	23509581	23509581	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:23509581C>A	ENST00000296682.3	+	3	254	c.72C>A	c.(70-72)gtC>gtA	p.V24V		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	24	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCCTCTAGGTCAAAGATGCCT	0.453										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(70-72)gtC>gtA		PR domain containing 9							177.0	168.0	171.0					5																	23509581		1868	4109	5977	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23509581C>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.72C>A	5.37:g.23509581C>A		HNSCC(3;0.000094)	Somatic					p.V24V	NM_020227.2	NP_064612.2	WXS	Illumina GAIIx	Phase_I	Q9NQV7	PRDM9_HUMAN			3	254	+			24			KRAB-related.		B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.72C>A	CCDS43307.1																																																																																				0.453	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		5	770	1	0	0.27861	1	0.281478	5	770				
PEX7	5191	broad.mit.edu	37	6	137191043	137191043	+	Missense_Mutation	SNP	G	G	A	rs121909152		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:137191043G>A	ENST00000318471.4	+	7	730	c.649G>A	c.(649-651)Ggg>Agg	p.G217R	PEX7_ENST00000541292.1_Missense_Mutation_p.G217R	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	217			G -> R (in RCDP1; unknown pathological significance). {ECO:0000269|PubMed:9090381}.		endochondral ossification (GO:0001958)|ether lipid biosynthetic process (GO:0008611)|fatty acid beta-oxidation (GO:0006635)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-2 binding (GO:0005053)|protein homodimerization activity (GO:0042803)	p.G217W(1)		lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		GCTGGTGACCGGGGCGGTTGA	0.413																																						ENST00000541292.1																			1	Substitution - Missense(1)	p.G217W(1)	lung(1)	lung(7)|prostate(1)	8	GRCh37	CM971145	PEX7	M	rs121909152	c.(649-651)Ggg>Agg		peroxisomal biogenesis factor 7		G	ARG/GLY	0,4406		0,0,2203	227.0	232.0	230.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	649	5.0	0.2	6	dbSNP_133	230	1,8599	1.2+/-3.3	0,1,4299	no	missense	PEX7	NM_000288.3	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	217/324	137191043	1,13005	2203	4300	6503	SO:0001583	missense	5191				ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding	g.chr6:137191043G>A	AF180814	CCDS5180.1	6q21-q22.2	2013-01-10			ENSG00000112357	ENSG00000112357		"""WD repeat domain containing"""	8860	protein-coding gene	gene with protein product	"""Refsum disease"""	601757				9090381, 10673331	Standard	NM_000288		Approved	PTS2R, RD	uc003qhd.3	O00628	OTTHUMG00000015650	ENST00000318471.4:c.649G>A	6.37:g.137191043G>A	ENSP00000315680:p.Gly217Arg		Somatic				PEX7_ENST00000318471.4_Missense_Mutation_p.G217R	p.G217R			WXS	Illumina GAIIx	Phase_I	O00628	PEX7_HUMAN		GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)	7	735	+	Colorectal(23;0.24)		217		G -> R (in RCDP1; could be a polymorphism).			C0H5X6	Missense_Mutation	SNP	ENST00000318471.4	37	c.649G>A	CCDS5180.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907422	0.72868	0.0	1.16E-4	ENSG00000112357	ENST00000541292;ENST00000318471	T;T	0.72051	-0.62;-0.62	5.84	4.98	0.66077	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.094233	0.64402	D	0.000001	D	0.84911	0.5577	M	0.93720	3.45	0.58432	A	0.999995	D	0.89917	1.0	D	0.77557	0.99	D	0.89626	0.3852	9	0.87932	D	0	-26.9256	13.9923	0.64374	0.0741:0.0:0.9259:0.0	rs61753246	217	O00628	PEX7_HUMAN	R	217	ENSP00000441004:G217R;ENSP00000315680:G217R	ENSP00000315680:G217R	G	+	1	0	PEX7	137232736	1.000000	0.71417	0.189000	0.23252	0.865000	0.49528	7.095000	0.76952	1.466000	0.48025	0.591000	0.81541	GGG		0.413	PEX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042387.2	NM_000288		6	170	0	0	0	1	0	6	170				
DNAH11	8701	broad.mit.edu	37	7	21901549	21901549	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:21901549A>G	ENST00000409508.3	+	69	11312	c.11281A>G	c.(11281-11283)Atg>Gtg	p.M3761V	DNAH11_ENST00000328843.6_Missense_Mutation_p.M3768V	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3768					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTCTATCCTGATGGAGAGCAT	0.517									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(11302-11304)Atg>Gtg		dynein, axonemal, heavy chain 11							72.0	74.0	73.0					7																	21901549		2054	4219	6273	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21901549A>G	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.11281A>G	7.37:g.21901549A>G	ENSP00000475939:p.Met3761Val		Somatic				DNAH11_ENST00000409508.3_Missense_Mutation_p.M3761V	p.M3768V			WXS	Illumina GAIIx	Phase_I	Q96DT5	DYH11_HUMAN			70	11333	+			3768					Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.11302A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.357|4.357	0.065754|0.065754	0.08388|0.08388	.|.	.|.	ENSG00000105877|ENSG00000105877	ENST00000421290|ENST00000328843	.|T	.|0.49432	.|0.78	5.74|5.74	3.07|3.07	0.35406|0.35406	.|.	.|0.531595	.|0.23612	.|N	.|0.046328	T|T	0.27349|0.27349	0.0671|0.0671	.|.	.|.	.|.	0.20926|0.20926	N|N	0.999829|0.999829	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.19321|0.19321	-1.0309|-1.0309	4|9	.|0.12430	.|T	.|0.62	.|.	9.9648|9.9648	0.41719|0.41719	0.8485:0.0:0.1515:0.0|0.8485:0.0:0.1515:0.0	.|.	.|3768	.|Q96DT5	.|DYH11_HUMAN	G|V	155|3768	.|ENSP00000330671:M3768V	.|ENSP00000330671:M3768V	D|M	+|+	2|1	0|0	DNAH11|DNAH11	21868074|21868074	0.993000|0.993000	0.37304|0.37304	0.005000|0.005000	0.12908|0.12908	0.013000|0.013000	0.08279|0.08279	5.156000|5.156000	0.64905|0.64905	0.331000|0.331000	0.23511|0.23511	0.533000|0.533000	0.62120|0.62120	GAT|ATG		0.517	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		7	456	0	0	0	1	0	7	456				
SDHAF2	54949	broad.mit.edu	37	11	61205474	61205474	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:61205474A>T	ENST00000301761.2	+	3	334		c.e3-1		RP11-286N22.8_ENST00000543044.1_Splice_Site|SDHAF2_ENST00000543265.1_Intron|SDHAF2_ENST00000537782.1_Splice_Site|SDHAF2_ENST00000534878.1_Splice_Site|SDHAF2_ENST00000542074.1_Intron|RP11-286N22.8_ENST00000544880.1_Splice_Site	NM_017841.2	NP_060311.1			succinate dehydrogenase complex assembly factor 2											large_intestine(3)|lung(4)|ovary(2)	9						TCTTGTTTTTAGTCTTTTTGC	0.403																																						ENST00000301761.2																			0				large_intestine(3)|lung(4)|ovary(2)	9						c.e3-1		succinate dehydrogenase complex assembly factor 2							96.0	93.0	94.0					11																	61205474		2202	4299	6501	SO:0001630	splice_region_variant	54949				mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding	g.chr11:61205474A>T	AK000494	CCDS8007.1	11q12.2	2014-09-17	2009-08-10	2009-08-10	ENSG00000167985	ENSG00000167985		"""Mitochondrial respiratory chain complex assembly factors"""	26034	protein-coding gene	gene with protein product		613019	"""paraganglioma or familial glomus tumors 2"", ""chromosome 11 open reading frame 79"""	PGL2, C11orf79		19628817	Standard	NM_017841		Approved	FLJ20487, SDH5	uc001nrt.3	Q9NX18	OTTHUMG00000168279	ENST00000301761.2:c.261-1A>T	11.37:g.61205474A>T			Somatic				SDHAF2_ENST00000542074.1_Intron|SDHAF2_ENST00000534878.1_Splice_Site|RP11-286N22.8_ENST00000544880.1_Splice_Site|SDHAF2_ENST00000543265.1_Intron|SDHAF2_ENST00000537782.1_Splice_Site|RP11-286N22.8_ENST00000543044.1_Splice_Site		NM_017841.2	NP_060311.1	WXS	Illumina GAIIx	Phase_I	Q9NX18	SDHF2_HUMAN			3	334	+									Splice_Site	SNP	ENST00000301761.2	37		CCDS8007.1	.	.	.	.	.	.	.	.	.	.	A	17.89	3.500876	0.64298	.	.	ENSG00000256591;ENSG00000167985	ENST00000541135;ENST00000301761	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3309	0.74208	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SDHAF2;RP11-286N22.8	60962050	1.000000	0.71417	0.977000	0.42913	0.540000	0.34992	8.106000	0.89555	2.254000	0.74563	0.533000	0.62120	.		0.403	SDHAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398438.1	NM_017841	Intron	6	142	0	0	0	1	0	6	142				
NFIB	4781	broad.mit.edu	37	9	14307284	14307284	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:14307284C>A	ENST00000380959.3	-	2	739	c.266G>T	c.(265-267)cGa>cTa	p.R89L	NFIB_ENST00000380953.1_Missense_Mutation_p.R89L|NFIB_ENST00000380934.4_Missense_Mutation_p.R115L|NFIB_ENST00000397575.3_Missense_Mutation_p.R89L|NFIB_ENST00000397579.2_Missense_Mutation_p.R89L|NFIB_ENST00000397581.2_Missense_Mutation_p.R89L|NFIB_ENST00000380921.3_Missense_Mutation_p.R89L	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	89					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|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 corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		AAAGTCCTCTCGATACTCCTG	0.507			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)	ENST00000380959.3				Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	"""MYB, HGMA2"""		"""adenoid cystic carcinoma, lipoma"""		0				central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17						c.(265-267)cGa>cTa		nuclear factor I/B							159.0	149.0	153.0					9																	14307284		2203	4300	6503	SO:0001583	missense	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14307284C>A	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.266G>T	9.37:g.14307284C>A	ENSP00000370346:p.Arg89Leu		Somatic				NFIB_ENST00000397579.2_Missense_Mutation_p.R89L|NFIB_ENST00000380934.4_Missense_Mutation_p.R115L|NFIB_ENST00000397581.2_Missense_Mutation_p.R89L|NFIB_ENST00000397575.3_Missense_Mutation_p.R89L|NFIB_ENST00000380921.3_Missense_Mutation_p.R89L|NFIB_ENST00000380953.1_Missense_Mutation_p.R89L	p.R89L	NM_005596.3	NP_005587.2	WXS	Illumina GAIIx	Phase_I	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	2	739	-			89					G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Missense_Mutation	SNP	ENST00000380959.3	37	c.266G>T	CCDS6474.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525719	0.85600	.	.	ENSG00000147862	ENST00000380934;ENST00000380959;ENST00000380953;ENST00000397575;ENST00000397581;ENST00000397579;ENST00000380921	T;T;T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82	5.71	5.71	0.89125	MAD homology 1, Dwarfin-type (2);CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.87253	0.6131	M	0.78049	2.395	0.80722	D	1	D;D;D	0.64830	0.994;0.994;0.994	D;D;D	0.76575	0.982;0.988;0.982	D	0.87925	0.2706	10	0.87932	D	0	.	19.8773	0.96884	0.0:1.0:0.0:0.0	.	89;89;89	Q5VW27;Q5VW29;O00712	.;.;NFIB_HUMAN	L	115;89;89;89;89;89;89	ENSP00000370321:R115L;ENSP00000370346:R89L;ENSP00000370340:R89L;ENSP00000380705:R89L;ENSP00000380711:R89L;ENSP00000380709:R89L;ENSP00000370308:R89L	ENSP00000370308:R89L	R	-	2	0	NFIB	14297284	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.686000	0.91538	0.650000	0.86243	CGA		0.507	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596		33	620	1	0	2.32173e-10	1	2.87895e-10	33	620				
ATE1	11101	broad.mit.edu	37	10	123503319	123503319	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:123503319G>A	ENST00000224652.6	-	12	1518	c.1433C>T	c.(1432-1434)gCc>gTc	p.A478V	ATE1_ENST00000540606.1_Missense_Mutation_p.A471V|ATE1_ENST00000535655.1_Missense_Mutation_p.A179V|ATE1_ENST00000543447.1_Missense_Mutation_p.A363V|ATE1_ENST00000369043.3_Missense_Mutation_p.A478V|ATE1_ENST00000369040.3_Missense_Mutation_p.A382V	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	478					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				AGGCATGATGGCTCTCTTGTG	0.478																																						ENST00000369043.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1432-1434)gCc>gTc		arginyltransferase 1							125.0	110.0	115.0					10																	123503319		2203	4300	6503	SO:0001583	missense	11101				protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	g.chr10:123503319G>A	AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.1433C>T	10.37:g.123503319G>A	ENSP00000224652:p.Ala478Val		Somatic				ATE1_ENST00000224652.6_Missense_Mutation_p.A478V|ATE1_ENST00000369040.3_Missense_Mutation_p.A382V|ATE1_ENST00000543447.1_Missense_Mutation_p.A363V|ATE1_ENST00000535655.1_Missense_Mutation_p.A179V|ATE1_ENST00000540606.1_Missense_Mutation_p.A471V	p.A478V	NM_007041.2	NP_008972.2	WXS	Illumina GAIIx	Phase_I	O95260	ATE1_HUMAN			12	1519	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	478					O95261|Q5SQQ3|Q8WW04	Missense_Mutation	SNP	ENST00000224652.6	37	c.1433C>T	CCDS31300.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032591	0.54790	.	.	ENSG00000107669	ENST00000369043;ENST00000535655;ENST00000224652;ENST00000369040;ENST00000540606;ENST00000543447	.	.	.	5.02	4.12	0.48240	.	0.497594	0.19951	N	0.102430	T	0.20820	0.0501	N	0.04508	-0.205	0.27333	N	0.956729	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.001;0.002;0.003	T	0.13282	-1.0515	9	0.28530	T	0.3	-4.8109	10.6755	0.45783	0.0904:0.0:0.9096:0.0	.	471;382;478;478	F5GXE4;B4E107;O95260;O95260-2	.;.;ATE1_HUMAN;.	V	478;179;478;382;471;363	.	ENSP00000224652:A478V	A	-	2	0	ATE1	123493309	1.000000	0.71417	0.836000	0.33094	0.995000	0.86356	3.823000	0.55715	1.130000	0.42092	0.655000	0.94253	GCC		0.478	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976		4	421	0	0	0	1	0	4	421				
ITGB7	3695	broad.mit.edu	37	12	53589220	53589220	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:53589220C>A	ENST00000267082.5	-	9	1330	c.1099G>T	c.(1099-1101)Gca>Tca	p.A367S	ITGB7_ENST00000422257.3_Missense_Mutation_p.A367S|ITGB7_ENST00000550743.2_Missense_Mutation_p.A367S|ITGB7_ENST00000338737.4_Missense_Mutation_p.A367S	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	367	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCCCAACTGCAGACTTAGGA	0.542																																						ENST00000267082.5																			0				NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1099-1101)Gca>Tca		integrin, beta 7							97.0	89.0	92.0					12																	53589220		2203	4300	6503	SO:0001583	missense	3695				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity	g.chr12:53589220C>A		CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"""Integrins"""	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.1099G>T	12.37:g.53589220C>A	ENSP00000267082:p.Ala367Ser		Somatic				ITGB7_ENST00000422257.3_Missense_Mutation_p.A367S|ITGB7_ENST00000338737.4_Missense_Mutation_p.A367S|ITGB7_ENST00000550743.2_Missense_Mutation_p.A367S	p.A367S	NM_000889.1	NP_000880.1	WXS	Illumina GAIIx	Phase_I	P26010	ITB7_HUMAN			9	1330	-			367			VWFA.		Q9UCP7|Q9UCS7	Missense_Mutation	SNP	ENST00000267082.5	37	c.1099G>T	CCDS8849.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355239	0.61293	.	.	ENSG00000139626	ENST00000422257;ENST00000267082;ENST00000338737;ENST00000542497	D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02	4.21	3.27	0.37495	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.169929	0.28527	N	0.015024	D	0.86744	0.6006	N	0.26092	0.79	0.48452	D	0.999653	P	0.40398	0.716	P	0.45610	0.487	T	0.81519	-0.0896	10	0.13853	T	0.58	.	9.9805	0.41811	0.0:0.8878:0.0:0.1122	.	367	P26010	ITB7_HUMAN	S	367	ENSP00000408741:A367S;ENSP00000267082:A367S;ENSP00000345501:A367S;ENSP00000437375:A367S	ENSP00000267082:A367S	A	-	1	0	ITGB7	51875487	0.955000	0.32602	0.937000	0.37676	0.823000	0.46562	5.883000	0.69721	1.267000	0.44247	0.563000	0.77884	GCA		0.542	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2			11	549	1	0	0.0931896	1	0.0962959	11	549				
PNPLA6	10908	broad.mit.edu	37	19	7619529	7619529	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:7619529C>T	ENST00000221249.6	+	24	2871	c.2440C>T	c.(2440-2442)Ccc>Tcc	p.P814S	PNPLA6_ENST00000414982.3_Missense_Mutation_p.P862S|PNPLA6_ENST00000600737.1_Missense_Mutation_p.P852S|PNPLA6_ENST00000545201.2_Missense_Mutation_p.P787S|PNPLA6_ENST00000450331.3_Missense_Mutation_p.P814S	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	853					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CTCGCTGACGCCCTGGACCGT	0.667																																						ENST00000221249.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(2440-2442)Ccc>Tcc		patatin-like phospholipase domain containing 6							81.0	72.0	75.0					19																	7619529		2203	4300	6503	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7619529C>T	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.2440C>T	19.37:g.7619529C>T	ENSP00000221249:p.Pro814Ser		Somatic				PNPLA6_ENST00000600737.1_Missense_Mutation_p.P852S|PNPLA6_ENST00000545201.2_Missense_Mutation_p.P787S|PNPLA6_ENST00000414982.3_Missense_Mutation_p.P862S|PNPLA6_ENST00000450331.3_Missense_Mutation_p.P814S	p.P814S	NM_006702.4	NP_006693.3	WXS	Illumina GAIIx	Phase_I	Q8IY17	PLPL6_HUMAN			24	2871	+			853					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.2440C>T	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	c	18.41	3.618080	0.66787	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	4.98	4.98	0.66077	.	0.111909	0.64402	D	0.000006	T	0.50137	0.1598	L	0.41961	1.31	0.58432	D	0.999999	D;D;D;P	0.69078	0.995;0.997;0.997;0.729	P;D;D;B	0.67231	0.893;0.95;0.95;0.444	T	0.36986	-0.9725	10	0.36615	T	0.2	-23.6347	15.8384	0.78818	0.0:1.0:0.0:0.0	.	853;787;852;814	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	S	814;787;862;814	ENSP00000221249:P814S;ENSP00000443323:P787S;ENSP00000407509:P862S;ENSP00000394348:P814S	ENSP00000221249:P814S	P	+	1	0	PNPLA6	7525529	1.000000	0.71417	1.000000	0.80357	0.085000	0.17905	5.879000	0.69690	2.591000	0.87537	0.555000	0.69702	CCC		0.667	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		6	242	0	0	0	1	0	6	242				
ALB	213	broad.mit.edu	37	4	74279236	74279236	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:74279236G>A	ENST00000503124.1	+	6	700	c.493G>A	c.(493-495)Gcc>Acc	p.A165T	ALB_ENST00000401494.3_Missense_Mutation_p.A200T|ALB_ENST00000295897.4_Missense_Mutation_p.A315T|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Missense_Mutation_p.A123T|ALB_ENST00000509063.1_Missense_Mutation_p.A315T			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCACTGCATTGCCGAAGTGGA	0.423																																						ENST00000295897.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48						c.(943-945)Gcc>Acc		albumin	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						143.0	135.0	138.0					4																	74279236		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74279236G>A	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.493G>A	4.37:g.74279236G>A	ENSP00000421027:p.Ala165Thr		Somatic				ALB_ENST00000509063.1_Missense_Mutation_p.A315T|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.A200T|ALB_ENST00000503124.1_Missense_Mutation_p.A165T|ALB_ENST00000415165.2_Missense_Mutation_p.A123T	p.A315T	NM_000477.5	NP_000468.1	WXS	Illumina GAIIx	Phase_I	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		8	1032	+	Breast(15;0.00102)		315			Albumin 2.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37	c.943G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.64|12.64	1.999325|1.999325	0.35226|0.35226	.|.	.|.	ENSG00000163631|ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202|ENST00000511370	T;T;T;T;T|.	0.72942|.	-0.7;-0.7;-0.7;-0.7;-0.7|.	5.98|5.98	-6.65|-6.65	0.01795|0.01795	Serum albumin-like (1);Serum albumin, N-terminal (3);|.	1.761250|.	0.02783|.	N|.	0.121199|.	T|T	0.40570|0.40570	0.1122|0.1122	M|M	0.76838|0.76838	2.35|2.35	0.09310|0.09310	N|N	1|1	P;B;B;B;B|.	0.35908|.	0.527;0.024;0.065;0.033;0.03|.	B;B;B;B;B|.	0.38985|.	0.287;0.022;0.023;0.008;0.015|.	T|T	0.37753|0.37753	-0.9692|-0.9692	10|5	0.59425|.	D|.	0.04|.	4.8203|4.8203	2.0435|2.0435	0.03555|0.03555	0.1546:0.2362:0.2081:0.4011|0.1546:0.2362:0.2081:0.4011	.|.	200;123;165;315;315|.	B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768|.	.;.;.;.;ALBU_HUMAN|.	T|Y	315;123;165;315;200;324|159	ENSP00000295897:A315T;ENSP00000401820:A123T;ENSP00000421027:A165T;ENSP00000422784:A315T;ENSP00000384695:A200T|.	ENSP00000295897:A315T|.	A|C	+|+	1|2	0|0	ALB|ALB	74498100|74498100	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-5.606000|-5.606000	0.00110|0.00110	-2.168000|-2.168000	0.00778|0.00778	-0.188000|-0.188000	0.12872|0.12872	GCC|TGC		0.423	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477		7	182	0	0	0	1	0	7	182				
CD1E	913	broad.mit.edu	37	1	158324168	158324168	+	Splice_Site	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:158324168T>C	ENST00000368167.3	+	2	299	c.60T>C	c.(58-60)gcT>gcC	p.A20A	CD1E_ENST00000434258.1_Splice_Site_p.A18A|CD1E_ENST00000368163.3_Splice_Site_p.A20A|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368161.3_Splice_Site_p.A20A|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368160.3_Splice_Site_p.A20A|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368155.3_Splice_Site_p.A20A|CD1E_ENST00000368156.1_Splice_Site_p.A20A|CD1E_ENST00000368165.3_Splice_Site_p.A20A|CD1E_ENST00000368157.1_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	20					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CTCTCTCAGCTCCCCAGGCTC	0.498																																						ENST00000368160.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49						c.e2-1		CD1e molecule							145.0	145.0	145.0					1																	158324168		2045	4215	6260	SO:0001630	splice_region_variant	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158324168T>C	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.59-1T>C	1.37:g.158324168T>C			Somatic				CD1E_ENST00000368155.3_Splice_Site_p.A20_splice|CD1E_ENST00000368167.3_Splice_Site_p.A20_splice|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000434258.1_Splice_Site_p.A18_splice|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368161.3_Splice_Site_p.A20_splice|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368156.1_Splice_Site_p.A20_splice|CD1E_ENST00000368165.3_Splice_Site_p.A20_splice|CD1E_ENST00000368163.3_Splice_Site_p.A20_splice|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000452291.2_Intron	p.A20_splice	NM_001042583.2	NP_001036048.1	WXS	Illumina GAIIx	Phase_I	P15812	CD1E_HUMAN			2	60	+	all_hematologic(112;0.0378)		20					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Splice_Site	SNP	ENST00000368167.3	37	c.58_splice	CCDS41417.1																																																																																				0.498	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893	Silent	7	538	0	0	0	1	0	7	538				
KIF15	56992	broad.mit.edu	37	3	44856401	44856401	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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	127	0	0	0	1	0	5	127				
MEFV	4210	broad.mit.edu	37	16	3304364	3304364	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:3304364G>A	ENST00000219596.1	-	2	743	c.704C>T	c.(703-705)tCg>tTg	p.S235L	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000541159.1_Intron|MEFV_ENST00000339854.4_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	235					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CATCTTTCCCGAGGGCAGGTA	0.627																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(703-705)tCg>tTg		Mediterranean fever	Colchicine(DB01394)						65.0	73.0	70.0					16																	3304364		2197	4300	6497	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3304364G>A	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.704C>T	16.37:g.3304364G>A	ENSP00000219596:p.Ser235Leu		Somatic				MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron	p.S235L	NM_000243.2	NP_000234.1	WXS	Illumina GAIIx	Phase_I	O15553	MEFV_HUMAN			2	743	-			235					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.704C>T	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.185592	0.38609	.	.	ENSG00000103313	ENST00000545159;ENST00000219596	T	0.66815	-0.23	4.75	4.75	0.60458	.	0.558035	0.15267	N	0.271448	T	0.49304	0.1549	L	0.29908	0.895	0.80722	D	1	B	0.34329	0.449	B	0.26614	0.071	T	0.44787	-0.9305	10	0.09843	T	0.71	-23.4025	13.9861	0.64337	0.0:0.0:1.0:0.0	.	235	O15553	MEFV_HUMAN	L	235	ENSP00000219596:S235L	ENSP00000219596:S235L	S	-	2	0	MEFV	3244365	0.333000	0.24731	0.371000	0.25978	0.019000	0.09904	3.516000	0.53436	2.585000	0.87301	0.655000	0.94253	TCG		0.627	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		12	1018	0	0	0	1	0	12	1018				
SMC2	10592	broad.mit.edu	37	9	106857698	106857698	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:106857698C>A	ENST00000286398.7	+	2	321	c.33C>A	c.(31-33)ttC>ttA	p.F11L	SMC2_ENST00000303219.8_Missense_Mutation_p.F11L|SMC2_ENST00000374793.3_Missense_Mutation_p.F11L|RP11-82L2.1_ENST00000603487.1_lincRNA|SMC2_ENST00000374787.3_Missense_Mutation_p.F11L	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	11					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TAGAGGGATTCAAGTCCTATG	0.433																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(31-33)ttC>ttA		structural maintenance of chromosomes 2							116.0	105.0	109.0					9																	106857698		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106857698C>A	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.33C>A	9.37:g.106857698C>A	ENSP00000286398:p.Phe11Leu		Somatic				SMC2_ENST00000303219.8_Missense_Mutation_p.F11L|SMC2_ENST00000374787.3_Missense_Mutation_p.F11L|SMC2_ENST00000374793.3_Missense_Mutation_p.F11L	p.F11L	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	WXS	Illumina GAIIx	Phase_I	O95347	SMC2_HUMAN			2	321	+			11					Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.33C>A	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339466	0.81911	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000536893;ENST00000374787	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.0	0.709	0.18150	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.87752	0.6256	M	0.91972	3.26	0.53005	D	0.999964	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.86101	0.1556	10	0.87932	D	0	-10.0243	7.8985	0.29721	0.0:0.5345:0.0:0.4655	.	11;11;11	A8K984;O95347;Q2KQ72	.;SMC2_HUMAN;.	L	11	ENSP00000286398:F11L;ENSP00000363925:F11L;ENSP00000306152:F11L;ENSP00000363919:F11L	ENSP00000286398:F11L	F	+	3	2	SMC2	105897519	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.807000	0.27140	0.268000	0.21939	0.655000	0.94253	TTC		0.433	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			4	171	1	0	0.014758	1	0.0155779	4	171				
MBD4	8930	broad.mit.edu	37	3	129152054	129152054	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:129152054T>A	ENST00000249910.1	-	6	1623	c.1448A>T	c.(1447-1449)gAg>gTg	p.E483V	MBD4_ENST00000507208.1_Missense_Mutation_p.E483V|MBD4_ENST00000429544.2_Missense_Mutation_p.E477V|MBD4_ENST00000509587.1_5'Flank|MBD4_ENST00000393278.2_Missense_Mutation_p.E165V|MBD4_ENST00000503197.1_Missense_Mutation_p.E483V	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	483					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						AGGATACTTCTCCAGAAACTT	0.438								Base excision repair (BER), DNA glycosylases																														ENST00000429544.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						c.(1429-1431)gAg>gTg	Base excision repair (BER), DNA glycosylases	methyl-CpG binding domain protein 4							102.0	102.0	102.0					3																	129152054		2203	4300	6503	SO:0001583	missense	8930				depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding	g.chr3:129152054T>A	AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.1448A>T	3.37:g.129152054T>A	ENSP00000249910:p.Glu483Val		Somatic				MBD4_ENST00000249910.1_Missense_Mutation_p.E483V|MBD4_ENST00000503197.1_Missense_Mutation_p.E483V|MBD4_ENST00000507208.1_Missense_Mutation_p.E483V|MBD4_ENST00000393278.2_Missense_Mutation_p.E165V	p.E477V	NM_001276270.1	NP_001263199.1	WXS	Illumina GAIIx	Phase_I	O95243	MBD4_HUMAN			6	1625	-			483					B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000249910.1	37	c.1430A>T	CCDS3058.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955640	0.73902	.	.	ENSG00000129071	ENST00000429544;ENST00000249910;ENST00000503197;ENST00000393278;ENST00000507208	D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23	5.84	5.84	0.93424	HhH-GPD domain (1);DNA glycosylase (2);	0.157477	0.56097	D	0.000029	D	0.92506	0.7620	M	0.68952	2.095	0.51767	D	0.999934	B;B;B;D;B	0.69078	0.217;0.429;0.095;0.997;0.116	B;B;B;D;B	0.72338	0.363;0.188;0.139;0.977;0.218	D	0.92886	0.6327	10	0.62326	D	0.03	-11.8797	16.2333	0.82358	0.0:0.0:0.0:1.0	.	483;165;477;483;483	E9PEE4;Q2MD36;O95243-2;O95243-3;O95243	.;.;.;.;MBD4_HUMAN	V	477;483;483;165;483	ENSP00000394080:E477V;ENSP00000249910:E483V;ENSP00000424873:E483V;ENSP00000376959:E165V;ENSP00000422327:E483V	ENSP00000249910:E483V	E	-	2	0	MBD4	130634744	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.770000	0.55310	2.367000	0.80283	0.529000	0.55759	GAG		0.438	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925		4	242	0	0	0	1	0	4	242				
ARHGAP21	57584	broad.mit.edu	37	10	24874328	24874328	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:24874328C>T	ENST00000396432.2	-	26	5376	c.4890G>A	c.(4888-4890)ggG>ggA	p.G1630G		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1629	Interaction with CTNNA1.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CCACAGGCCGCCCTTCACTGA	0.567																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(4888-4890)ggG>ggA		Rho GTPase activating protein 21							79.0	81.0	81.0					10																	24874328		2203	4300	6503	SO:0001819	synonymous_variant	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24874328C>T	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4890G>A	10.37:g.24874328C>T			Somatic					p.G1630G	NM_020824.3	NP_065875.3	WXS	Illumina GAIIx	Phase_I	Q5T5U3	RHG21_HUMAN			26	5376	-			1629			Interaction with CTNNA1.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	ENST00000396432.2	37	c.4890G>A	CCDS7144.2																																																																																				0.567	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		11	482	0	0	0	1	0	11	482				
NAV2	89797	broad.mit.edu	37	11	20089906	20089906	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:20089906G>A	ENST00000396087.3	+	24	5212	c.5113G>A	c.(5113-5115)Gag>Aag	p.E1705K	NAV2_ENST00000360655.4_Missense_Mutation_p.E1585K|NAV2_ENST00000349880.4_Missense_Mutation_p.E1649K|NAV2_ENST00000540292.1_Missense_Mutation_p.E1636K|NAV2_ENST00000396085.1_Missense_Mutation_p.E1649K|NAV2_ENST00000533917.1_Missense_Mutation_p.E713K|NAV2_ENST00000311043.8_Missense_Mutation_p.E713K|NAV2_ENST00000527559.2_Missense_Mutation_p.E1634K	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1705					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGCCTCCCAGGAGAAAGTTTC	0.522																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(4945-4947)Gag>Aag		neuron navigator 2							103.0	102.0	102.0					11																	20089906		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20089906G>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5113G>A	11.37:g.20089906G>A	ENSP00000379396:p.Glu1705Lys		Somatic				NAV2_ENST00000349880.4_Missense_Mutation_p.E1649K|NAV2_ENST00000527559.2_Missense_Mutation_p.E1634K|NAV2_ENST00000533917.1_Missense_Mutation_p.E713K|NAV2_ENST00000540292.1_Missense_Mutation_p.E1636K|NAV2_ENST00000396087.3_Missense_Mutation_p.E1705K|NAV2_ENST00000360655.4_Missense_Mutation_p.E1585K|NAV2_ENST00000311043.8_Missense_Mutation_p.E713K	p.E1649K	NM_182964.5	NP_892009.3	WXS	Illumina GAIIx	Phase_I	Q8IVL1	NAV2_HUMAN			22	5306	+			1705			Ser-rich.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.4945G>A	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	36	5.708953	0.96821	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	T;D;D;D;D;D;T;T;T	0.94000	-1.21;-3.33;-3.33;-3.33;-3.33;-3.33;-1.21;-1.21;-1.21	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000006	D	0.95056	0.8399	L	0.46157	1.445	0.58432	D	0.999999	D;D;P;P;D;D	0.69078	0.995;0.985;0.873;0.94;0.997;0.992	D;P;B;P;D;P	0.70935	0.936;0.724;0.306;0.535;0.971;0.863	D	0.94251	0.7493	9	.	.	.	.	16.9694	0.86295	0.0:0.0:1.0:0.0	.	1649;1705;713;698;1649;1585	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	K	1585;1649;1649;1705;1634;1636;713;698;713;698	ENSP00000353871:E1585K;ENSP00000379394:E1649K;ENSP00000309577:E1649K;ENSP00000379396:E1705K;ENSP00000435395:E1634K;ENSP00000443489:E1636K;ENSP00000437316:E713K;ENSP00000437136:E698K;ENSP00000312169:E713K	.	E	+	1	0	NAV2	20046482	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.087000	0.94110	2.547000	0.85894	0.555000	0.69702	GAG		0.522	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		29	87	0	0	0	1	0	29	87				
GRM7	2917	broad.mit.edu	37	3	7620562	7620562	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:7620562T>C	ENST00000357716.4	+	8	2243	c.1969T>C	c.(1969-1971)Ttc>Ctc	p.F657L	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Missense_Mutation_p.F657L|GRM7_ENST00000486284.1_Missense_Mutation_p.F657L|GRM7_ENST00000389336.4_Missense_Mutation_p.F657L|GRM7_ENST00000402647.2_Missense_Mutation_p.F657L	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	657					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						AGTGTGTTCTTTCCGGCGAGT	0.458																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(1969-1971)Ttc>Ctc		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						126.0	118.0	121.0					3																	7620562		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7620562T>C	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1969T>C	3.37:g.7620562T>C	ENSP00000350348:p.Phe657Leu		Somatic				GRM7_ENST00000389336.4_Missense_Mutation_p.F657L|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Missense_Mutation_p.F657L|GRM7_ENST00000357716.4_Missense_Mutation_p.F657L|GRM7_ENST00000403881.1_Missense_Mutation_p.F657L	p.F657L	NM_181874.2	NP_870989.1	WXS	Illumina GAIIx	Phase_I	Q14831	GRM7_HUMAN			8	2243	+			657					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.1969T>C	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	T	0.650	-0.810040	0.02798	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03	5.93	5.93	0.95920	GPCR, family 3, C-terminal (2);	0.047980	0.85682	D	0.000000	T	0.73426	0.3585	N	0.00422	-1.515	0.52501	D	0.999951	B;P;D;D;B	0.63046	0.0;0.954;0.992;0.963;0.001	B;D;D;D;B	0.76071	0.002;0.943;0.987;0.966;0.001	T	0.75340	-0.3352	10	0.02654	T	1	.	15.2183	0.73288	0.0:0.0:0.0:1.0	.	657;657;412;657;657	B7ZKK0;Q14831-5;Q59G95;Q14831;Q14831-2	.;.;.;GRM7_HUMAN;.	L	657	ENSP00000350348:F657L;ENSP00000417536:F657L;ENSP00000373987:F657L;ENSP00000385664:F657L;ENSP00000384585:F657L	ENSP00000350348:F657L	F	+	1	0	GRM7	7595562	1.000000	0.71417	0.937000	0.37676	0.143000	0.21401	6.194000	0.72082	2.281000	0.76405	0.533000	0.62120	TTC		0.458	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		4	193	0	0	0	1	0	4	193				
TP63	8626	broad.mit.edu	37	3	189349364	189349364	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:189349364G>A	ENST00000264731.3	+	1	149	c.60G>A	c.(58-60)caG>caA	p.Q20Q	TP63_ENST00000382063.4_Silent_p.Q20Q|TP63_ENST00000418709.2_Silent_p.Q20Q|TP63_ENST00000320472.5_Silent_p.Q20Q|TP63_ENST00000440651.2_Silent_p.Q20Q|TP63_ENST00000392460.3_Silent_p.Q20Q	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	20	Transcription activation.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTTACATCCAGCGGTGAGTTT	0.403										HNSCC(45;0.13)																												ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(58-60)caG>caA		tumor protein p63							168.0	154.0	159.0					3																	189349364		2203	4300	6503	SO:0001819	synonymous_variant	8626				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189349364G>A	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.60G>A	3.37:g.189349364G>A		HNSCC(45;0.13)	Somatic				TP63_ENST00000392460.3_Silent_p.Q20Q|TP63_ENST00000382063.4_Silent_p.Q20Q|TP63_ENST00000440651.2_Silent_p.Q20Q|TP63_ENST00000418709.2_Silent_p.Q20Q|TP63_ENST00000320472.5_Silent_p.Q20Q	p.Q20Q	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	WXS	Illumina GAIIx	Phase_I	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	1	149	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		20			Transcription activation.		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Silent	SNP	ENST00000264731.3	37	c.60G>A	CCDS3293.1																																																																																				0.403	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		6	326	0	0	0	1	0	6	326				
MCM7	4176	broad.mit.edu	37	7	99693790	99693790	+	Splice_Site	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:99693790C>G	ENST00000303887.5	-	11	1847	c.1202G>C	c.(1201-1203)aGc>aCc	p.S401T	MIR93_ENST00000385024.1_RNA|MIR25_ENST00000384816.1_RNA|MCM7_ENST00000343023.6_Intron|MCM7_ENST00000354230.3_Splice_Site_p.S225T|MIR106B_ENST00000385301.1_RNA	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	401	MCM.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGTGTACTGGCCTGGAAGAGA	0.562																																						ENST00000303887.5																			0				endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17						c.e11-1		minichromosome maintenance complex component 7	Atorvastatin(DB01076)						24.0	25.0	25.0					7																	99693790		2203	4300	6503	SO:0001630	splice_region_variant	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99693790C>G		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1202-1G>C	7.37:g.99693790C>G			Somatic				MCM7_ENST00000343023.6_Intron|MCM7_ENST00000354230.3_Splice_Site_p.S225_splice	p.S401_splice	NM_005916.3	NP_005907.3	WXS	Illumina GAIIx	Phase_I	P33993	MCM7_HUMAN			11	1847	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		401			MCM.		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Splice_Site	SNP	ENST00000303887.5	37	c.1201_splice	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043058	0.75732	.	.	ENSG00000166508	ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	T;T	0.11385	2.78;2.78	4.87	3.98	0.46160	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.32585	0.0834	M	0.80847	2.515	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	T	0.12760	-1.0535	10	0.87932	D	0	.	12.2167	0.54410	0.1715:0.8285:0.0:0.0	.	401	P33993	MCM7_HUMAN	T	401;338;294;225	ENSP00000307288:S401T;ENSP00000346171:S225T	ENSP00000307288:S401T	S	-	2	0	MCM7	99531726	1.000000	0.71417	0.978000	0.43139	0.896000	0.52359	7.324000	0.79115	1.243000	0.43853	0.655000	0.94253	AGC		0.562	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3		Missense_Mutation	9	353	0	0	0	1	0	9	353				
SORCS3	22986	broad.mit.edu	37	10	106976771	106976771	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:106976771C>T	ENST00000369701.3	+	19	2852	c.2625C>T	c.(2623-2625)atC>atT	p.I875I	SORCS3_ENST00000369699.4_Silent_p.I161I	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	875	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.I875I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCAGCCCCATCGAGGACGGCA	0.532																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			1	Substitution - coding silent(1)	p.I875I(1)	stomach(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(2623-2625)atC>atT		sortilin-related VPS10 domain containing receptor 3							165.0	125.0	139.0					10																	106976771		2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106976771C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2625C>T	10.37:g.106976771C>T			Somatic				SORCS3_ENST00000369699.4_Silent_p.I161I	p.I875I	NM_014978.1	NP_055793.1	WXS	Illumina GAIIx	Phase_I	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	19	2852	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	875			PKD.		Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.2625C>T	CCDS7558.1																																																																																				0.532	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		90	58	0	0	0	1	0	90	58				
SPATA31A6	389730	broad.mit.edu	37	9	43627114	43627114	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:43627114G>A	ENST00000332857.6	-	4	1601	c.1573C>T	c.(1573-1575)Cag>Tag	p.Q525*	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	525					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ACTTTATTCTGCGATGCAGGG	0.502																																						ENST00000332857.6																			0											c.(1573-1575)Cag>Tag		SPATA31 subfamily A, member 6							8.0	9.0	9.0					9																	43627114		608	1519	2127	SO:0001587	stop_gained	389730							g.chr9:43627114G>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1573C>T	9.37:g.43627114G>A	ENSP00000329825:p.Gln525*		Somatic					p.Q525*	NM_001145196.1	NP_001138668.1	WXS	Illumina GAIIx	Phase_I					4	1601	-									Nonsense_Mutation	SNP	ENST00000332857.6	37	c.1573C>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.651863	0.67472	.	.	ENSG00000185775	ENST00000332857	.	.	.	2.35	2.35	0.29111	.	0.433051	0.19696	N	0.108155	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	8.4623	0.32936	0.0:0.0:1.0:0.0	.	.	.	.	X	525	.	ENSP00000329825:Q525X	Q	-	1	0	FAM75A6	43567110	0.020000	0.18652	0.003000	0.11579	0.001000	0.01503	2.629000	0.46485	1.663000	0.50791	0.383000	0.25322	CAG		0.502	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		7	391	0	0	0	1	0	7	391				
PLAG1	5324	broad.mit.edu	37	8	57079698	57079698	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:57079698G>A	ENST00000316981.3	-	5	1086	c.607C>T	c.(607-609)Cac>Tac	p.H203Y	PLAG1_ENST00000429357.2_Missense_Mutation_p.H203Y|PLAG1_ENST00000423799.2_Missense_Mutation_p.H121Y	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	203	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			ACCACCATGTGTCTCCGGACA	0.483			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																	ENST00000316981.3				Dom	yes		8	8q12	5324	T	pleiomorphic adenoma gene 1			E	"""TCEA1, LIFR, CTNNB1, CHCHD7"""		salivary adenoma	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(607-609)Cac>Tac		pleiomorphic adenoma gene 1							86.0	80.0	82.0					8																	57079698		2203	4300	6503	SO:0001583	missense	5324					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:57079698G>A	U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.607C>T	8.37:g.57079698G>A	ENSP00000325546:p.His203Tyr		Somatic				PLAG1_ENST00000429357.2_Missense_Mutation_p.H203Y|PLAG1_ENST00000423799.2_Missense_Mutation_p.H121Y	p.H203Y	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	WXS	Illumina GAIIx	Phase_I	Q6DJT9	PLAG1_HUMAN	Epithelial(17;0.00179)|all cancers(17;0.0125)		5	1086	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	203			Decreased nuclear import with localization in the nucleus but also in the cytoplasm.		B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	ENST00000316981.3	37	c.607C>T	CCDS6165.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504279	0.64410	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	D;D;D	0.86769	-2.17;-2.17;-2.17	5.66	5.66	0.87406	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95850	0.8649	H	0.95816	3.725	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.96669	0.9495	10	0.87932	D	0	-18.907	19.7589	0.96306	0.0:0.0:1.0:0.0	.	203	Q6DJT9	PLAG1_HUMAN	Y	203;121;203	ENSP00000325546:H203Y;ENSP00000404067:H121Y;ENSP00000416537:H203Y	ENSP00000325546:H203Y	H	-	1	0	PLAG1	57242252	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.654000	0.90174	0.585000	0.79938	CAC		0.483	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655		89	233	0	0	0	1	0	89	233				
ADCY10	55811	broad.mit.edu	37	1	167815053	167815053	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:167815053C>A	ENST00000367851.4	-	21	2939	c.2755G>T	c.(2755-2757)Gag>Tag	p.E919*	ADCY10_ENST00000367848.1_Nonsense_Mutation_p.E827*|ADCY10_ENST00000545172.1_Nonsense_Mutation_p.E766*	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	919					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCGATCACCTCATTCTCCAGT	0.502																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(2479-2481)Gag>Tag		adenylate cyclase 10 (soluble)							106.0	95.0	99.0					1																	167815053		2203	4300	6503	SO:0001587	stop_gained	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167815053C>A	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.2755G>T	1.37:g.167815053C>A	ENSP00000356825:p.Glu919*		Somatic				ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Nonsense_Mutation_p.E919*|ADCY10_ENST00000545172.1_Nonsense_Mutation_p.E766*	p.E827*			WXS	Illumina GAIIx	Phase_I	Q96PN6	ADCYA_HUMAN			21	2976	-			919					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Nonsense_Mutation	SNP	ENST00000367851.4	37	c.2479G>T	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	40	7.913420	0.98557	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	.	.	.	5.96	4.06	0.47325	.	0.485871	0.20906	N	0.083550	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-11.1243	8.2494	0.31708	0.0:0.7598:0.1571:0.0831	.	.	.	.	X	766;919;827	.	ENSP00000356822:E827X	E	-	1	0	ADCY10	166081677	0.004000	0.15560	0.653000	0.29593	0.006000	0.05464	0.053000	0.14184	0.820000	0.34516	0.655000	0.94253	GAG		0.502	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		21	153	1	0	1.37878e-21	1	1.80869e-21	21	153				
RIMS1	22999	broad.mit.edu	37	6	72678723	72678723	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:72678723A>G	ENST00000521978.1	+	2	202	c.202A>G	c.(202-204)Aaa>Gaa	p.K68E	RIMS1_ENST00000518273.1_Missense_Mutation_p.K68E|RIMS1_ENST00000491071.2_Missense_Mutation_p.K68E|RIMS1_ENST00000348717.5_Missense_Mutation_p.K68E|RIMS1_ENST00000522291.1_Missense_Mutation_p.K68E|RIMS1_ENST00000520567.1_Missense_Mutation_p.K68E|RIMS1_ENST00000264839.7_Missense_Mutation_p.K68E|RIMS1_ENST00000517960.1_Missense_Mutation_p.K68E	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	68	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TGCTGCCTGCAAAACACCAAG	0.458																																						ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(202-204)Aaa>Gaa		regulating synaptic membrane exocytosis 1							133.0	138.0	136.0					6																	72678723		1931	4135	6066	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72678723A>G	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.202A>G	6.37:g.72678723A>G	ENSP00000428417:p.Lys68Glu		Somatic				RIMS1_ENST00000491071.2_Missense_Mutation_p.K68E|RIMS1_ENST00000522291.1_Missense_Mutation_p.K68E|RIMS1_ENST00000517960.1_Missense_Mutation_p.K68E|RIMS1_ENST00000521978.1_Missense_Mutation_p.K68E|RIMS1_ENST00000520567.1_Missense_Mutation_p.K68E|RIMS1_ENST00000348717.5_Missense_Mutation_p.K68E|RIMS1_ENST00000518273.1_Missense_Mutation_p.K68E	p.K68E			WXS	Illumina GAIIx	Phase_I	Q86UR5	RIMS1_HUMAN			2	202	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	68			RabBD.		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.202A>G	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.934932	0.52866	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.31	5.31	0.75309	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	.	.	.	.	T	0.09379	0.0231	N	0.08118	0	0.80722	D	1	B	0.14438	0.01	B	0.10450	0.005	T	0.09751	-1.0660	9	0.32370	T	0.25	.	11.6635	0.51361	1.0:0.0:0.0:0.0	.	68	Q86UR5	RIMS1_HUMAN	E	68	ENSP00000430101:K68E;ENSP00000275037:K68E;ENSP00000264839:K68E;ENSP00000429959:K68E;ENSP00000430408:K68E;ENSP00000430502:K68E;ENSP00000430932:K68E;ENSP00000428417:K68E	ENSP00000264839:K68E	K	+	1	0	RIMS1	72735444	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.247000	0.58750	1.990000	0.58119	0.533000	0.62120	AAA		0.458	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			7	276	0	0	0	1	0	7	276				
KLHL13	90293	broad.mit.edu	37	X	117043719	117043719	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:117043719G>T	ENST00000262820.3	-	5	1820	c.911C>A	c.(910-912)aCt>aAt	p.T304N	KLHL13_ENST00000539496.1_Missense_Mutation_p.T307N|KLHL13_ENST00000371876.1_Missense_Mutation_p.T253N|KLHL13_ENST00000371878.1_Missense_Mutation_p.T253N|KLHL13_ENST00000545703.1_Missense_Mutation_p.T262N|KLHL13_ENST00000540167.1_Missense_Mutation_p.T288N|KLHL13_ENST00000469946.1_Missense_Mutation_p.T253N|KLHL13_ENST00000541812.1_Missense_Mutation_p.T288N|KLHL13_ENST00000371882.1_Missense_Mutation_p.T253N	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	304					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGTATTGTCAGTTCTCATGAA	0.418																																						ENST00000371876.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(757-759)aCt>aAt		kelch-like family member 13							123.0	100.0	108.0					X																	117043719		2203	4300	6503	SO:0001583	missense	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117043719G>T	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.911C>A	X.37:g.117043719G>T	ENSP00000262820:p.Thr304Asn		Somatic				KLHL13_ENST00000539496.1_Missense_Mutation_p.T307N|KLHL13_ENST00000469946.1_Missense_Mutation_p.T253N|KLHL13_ENST00000371882.1_Missense_Mutation_p.T253N|KLHL13_ENST00000541812.1_Missense_Mutation_p.T288N|KLHL13_ENST00000545703.1_Missense_Mutation_p.T262N|KLHL13_ENST00000540167.1_Missense_Mutation_p.T288N|KLHL13_ENST00000371878.1_Missense_Mutation_p.T253N|KLHL13_ENST00000262820.3_Missense_Mutation_p.T304N	p.T253N			WXS	Illumina GAIIx	Phase_I	Q9P2N7	KLH13_HUMAN			4	3179	-			304			BACK.		B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	c.758C>A	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706730	0.48412	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.70399	-0.46;-0.46;-0.46;-0.46;-0.37;-0.37;-0.47;-0.48;-0.46;-0.46	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.69015	0.3064	L	0.37750	1.13	0.80722	D	1	B;P;B;B	0.48089	0.026;0.905;0.014;0.007	B;P;B;B	0.51615	0.041;0.675;0.025;0.007	T	0.63892	-0.6534	10	0.10111	T	0.7	.	17.1659	0.86816	0.0:0.0:1.0:0.0	.	288;307;298;304	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	N	253;253;253;253;288;288;307;304;262;253	ENSP00000360949:T253N;ENSP00000360943:T253N;ENSP00000360945:T253N;ENSP00000412640:T253N;ENSP00000444450:T288N;ENSP00000441029:T288N;ENSP00000443191:T307N;ENSP00000262820:T304N;ENSP00000440707:T262N;ENSP00000419803:T253N	ENSP00000262820:T304N	T	-	2	0	KLHL13	116927747	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.263000	0.95617	2.233000	0.73108	0.594000	0.82650	ACT		0.418	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		5	248	1	0	3.59834e-05	1	4.06798e-05	5	248				
SIRPB2	284759	broad.mit.edu	37	20	1460378	1460378	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:1460378T>C	ENST00000359801.3	-	2	454	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	SIRPB2_ENST00000444444.2_Intron|SIRPB2_ENST00000608747.1_Intron|SIRPB2_ENST00000537284.1_Missense_Mutation_p.K2E	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	133					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCATCCGATTTCATTTCTGAG	0.473																																						ENST00000359801.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(418-420)Aaa>Gaa		signal-regulatory protein beta 2							177.0	153.0	160.0					20																	1460378		1568	3582	5150	SO:0001583	missense	284759					integral to membrane		g.chr20:1460378T>C	AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16247	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type 1-like"", ""protein tyrosine phosphatase, non-receptor type substrate 1-like 3"""	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.418A>G	20.37:g.1460378T>C	ENSP00000352849:p.Lys140Glu		Somatic				SIRPB2_ENST00000537284.1_Missense_Mutation_p.K2E|SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000381630.1_Intron	p.K140E	NM_001122962.1	NP_001116434.1	WXS	Illumina GAIIx	Phase_I	Q5JXA9	SIRB2_HUMAN			2	454	-			140			Ig-like V-type 1.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000359801.3	37	c.418A>G	CCDS42849.1	.	.	.	.	.	.	.	.	.	.	T	10.74	1.436316	0.25813	.	.	ENSG00000196209	ENST00000359801;ENST00000537284	T;T	0.41065	1.01;4.16	3.84	-1.78	0.07957	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	2.067240	0.02358	N	0.076562	T	0.17746	0.0426	N	0.02916	-0.46	0.09310	N	1	B;B	0.16396	0.017;0.009	B;B	0.12837	0.005;0.008	T	0.07616	-1.0763	10	0.33940	T	0.23	-14.157	1.7011	0.02873	0.1632:0.1066:0.3904:0.3398	.	2;140	F5H204;Q5JXA9	.;SIRB2_HUMAN	E	140;2	ENSP00000352849:K140E;ENSP00000445632:K2E	ENSP00000352849:K140E	K	-	1	0	SIRPB2	1408378	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.051000	0.11885	-0.462000	0.06984	-0.333000	0.08304	AAA		0.473	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1	NM_178459		8	1043	0	0	0	1	0	8	1043				
KIF16B	55614	broad.mit.edu	37	20	16409650	16409650	+	Splice_Site	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:16409650C>A	ENST00000354981.2	-	14	1580		c.e14-1		KIF16B_ENST00000408042.1_Splice_Site|KIF16B_ENST00000355755.3_Splice_Site|KIF16B_ENST00000378003.2_Splice_Site	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B						ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCTGACCTTCCTGGGAAGAAA	0.393																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.e14-1		kinesin family member 16B							120.0	110.0	113.0					20																	16409650		2203	4300	6503	SO:0001630	splice_region_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16409650C>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1423-1G>T	20.37:g.16409650C>A			Somatic				KIF16B_ENST00000408042.1_Splice_Site|KIF16B_ENST00000378003.2_Splice_Site|KIF16B_ENST00000355755.3_Splice_Site		NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	WXS	Illumina GAIIx	Phase_I	Q96L93	KI16B_HUMAN			14	1580	-								A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Splice_Site	SNP	ENST00000354981.2	37		CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661710	0.88154	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.09	0.89472	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF16B	16357650	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.655000	0.74392	2.558000	0.86282	0.555000	0.69702	.		0.393	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683	Intron	6	232	1	0	0.000274275	1	0.000304808	6	232				
IL11RA	3590	broad.mit.edu	37	9	34660928	34660928	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:34660928G>A	ENST00000555003.1	+	12	2603	c.1247G>A	c.(1246-1248)cGt>cAt	p.R416H	RP11-195F19.30_ENST00000564224.1_RNA|CCL27_ENST00000557161.1_5'Flank|IL11RA_ENST00000441545.2_Missense_Mutation_p.R416H|IL11RA_ENST00000318041.9_Missense_Mutation_p.R416H			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	416					developmental process (GO:0032502)|embryo implantation (GO:0007566)|head development (GO:0060322)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	GTGGACAGGCGTCCAGGTGAG	0.522																																						ENST00000555003.1																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)	4						c.(1246-1248)cGt>cAt		interleukin 11 receptor, alpha	Oprelvekin(DB00038)						106.0	110.0	109.0					9																	34660928		2203	4300	6503	SO:0001583	missense	3590					integral to plasma membrane	cytokine receptor activity	g.chr9:34660928G>A	Z38102	CCDS6567.1	9p13	2014-05-22			ENSG00000137070	ENSG00000137070		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5967	protein-coding gene	gene with protein product		600939				7670098	Standard	NM_001142784		Approved		uc011loq.3	Q14626	OTTHUMG00000019837	ENST00000555003.1:c.1247G>A	9.37:g.34660928G>A	ENSP00000450565:p.Arg416His		Somatic				IL11RA_ENST00000318041.9_Missense_Mutation_p.R416H|IL11RA_ENST00000441545.2_Missense_Mutation_p.R416H	p.R416H			WXS	Illumina GAIIx	Phase_I	Q14626	I11RA_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	12	2603	+	all_epithelial(49;0.102)		416					Q16542|Q5VZ80|Q7KYJ7	Missense_Mutation	SNP	ENST00000555003.1	37	c.1247G>A	CCDS6567.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833511	0.32421	.	.	ENSG00000137070	ENST00000555003;ENST00000441545;ENST00000318041	T;T;T	0.30448	1.53;1.53;1.53	5.05	-0.0303	0.13915	.	0.972034	0.08458	N	0.942881	T	0.13884	0.0336	N	0.14661	0.345	0.20307	N	0.999913	P;P	0.49358	0.923;0.688	B;B	0.37780	0.258;0.188	T	0.13602	-1.0503	10	0.52906	T	0.07	-1.7413	2.6065	0.04879	0.1365:0.0885:0.402:0.373	.	416;416	Q5VZ79;Q14626	.;I11RA_HUMAN	H	416	ENSP00000450565:R416H;ENSP00000394391:R416H;ENSP00000326500:R416H	ENSP00000326500:R416H	R	+	2	0	IL11RA	34650928	0.917000	0.31117	0.813000	0.32504	0.598000	0.36846	0.170000	0.16663	0.104000	0.17725	-1.131000	0.01979	CGT		0.522	IL11RA-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410625.1	NM_001142784		4	195	0	0	0	1	0	4	195				
SCN10A	6336	broad.mit.edu	37	3	38835367	38835367	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:38835367C>T	ENST00000449082.2	-	1	134	c.135G>A	c.(133-135)aaG>aaA	p.K45K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	45					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CTTCTTGGTCCTTCTGCTCCC	0.552																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(133-135)aaG>aaA		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						168.0	172.0	171.0					3																	38835367		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38835367C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.135G>A	3.37:g.38835367C>T			Somatic					p.K45K	NM_006514.2	NP_006505.2	WXS	Illumina GAIIx	Phase_I	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	1	134	-			45					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.135G>A	CCDS33736.1																																																																																				0.552	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		5	259	0	0	0	1	0	5	259				
MYH7	4625	broad.mit.edu	37	14	23902406	23902406	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:23902406G>A	ENST00000355349.3	-	4	394	c.232C>T	c.(232-234)Cag>Tag	p.Q78*		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	78					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGGTTCTGCTGCATCACCTGG	0.587																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(232-234)Cag>Tag		myosin, heavy chain 7, cardiac muscle, beta							258.0	190.0	213.0					14																	23902406		2203	4300	6503	SO:0001587	stop_gained	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23902406G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.232C>T	14.37:g.23902406G>A	ENSP00000347507:p.Gln78*		Somatic					p.Q78*	NM_000257.2	NP_000248.2	WXS	Illumina GAIIx	Phase_I	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	4	394	-	all_cancers(95;2.54e-05)		78			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Nonsense_Mutation	SNP	ENST00000355349.3	37	c.232C>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	36	5.755367	0.96898	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	.	.	.	3.64	3.64	0.41730	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	11.6444	0.51253	0.0915:0.0:0.9085:0.0	.	.	.	.	X	78	.	ENSP00000347507:Q78X	Q	-	1	0	MYH7	22972246	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	3.068000	0.50018	2.029000	0.59856	0.305000	0.20034	CAG		0.587	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		20	705	0	0	0	1	0	20	705				
MIR518A1	574488	broad.mit.edu	37	19	54233120	54233120	+	RNA	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:54233120C>T	ENST00000385068.1	+	0	0				MIR518E_ENST00000385252.1_RNA|MIR526A2_ENST00000390198.1_RNA	NR_030210.1				microRNA 518a-1																		TAGAGGGAAGCGCTTTCTGTT	0.428																																						ENST00000385252.1																			0																				84.0	80.0	82.0					19																	54233120		1568	3582	5150			574487							g.chr19:54233120C>T			19q13.42	2011-09-12		2008-12-18	ENSG00000207803	ENSG00000207803		"""ncRNAs / Micro RNAs"""	32120	non-coding RNA	RNA, micro				MIRN518A-1, MIRN518A1			Standard	NR_030210		Approved	hsa-mir-518a-1	uc021van.1				19.37:g.54233120C>T			Somatic						NR_030209.1		WXS	Illumina GAIIx	Phase_I					0	29	+									RNA	SNP	ENST00000385068.1	37																																																																																						0.428	MIR518A1-201	KNOWN	basic	miRNA	miRNA		NR_030210		5	321	0	0	0	1	0	5	321				
PTGR1	22949	broad.mit.edu	37	9	114341111	114341111	+	Missense_Mutation	SNP	C	C	A	rs201015425		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:114341111C>A	ENST00000407693.2	-	7	878	c.616G>T	c.(616-618)Gcg>Tcg	p.A206S	PTGR1_ENST00000309195.5_Missense_Mutation_p.A206S|PTGR1_ENST00000238248.3_Missense_Mutation_p.A83S|PTGR1_ENST00000538962.1_Missense_Mutation_p.A206S	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	206					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						TCAGGAGACGCTTTCTTCAAG	0.358																																					Ovarian(200;132 2151 7551 19220 46064)	ENST00000407693.2																			0				endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						c.(616-618)Gcg>Tcg		prostaglandin reductase 1		C	SER/ALA,SER/ALA,SER/ALA	0,4406		0,0,2203	93.0	83.0	86.0		616,616,616	4.9	1.0	9		86	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	PTGR1	NM_001146108.1,NM_001146109.1,NM_012212.3	99,99,99	0,2,6501	AA,AC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	206/330,206/302,206/330	114341111	2,13004	2203	4300	6503	SO:0001583	missense	22949				leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr9:114341111C>A	D49387	CCDS6779.1, CCDS55331.1	9q32	2008-06-04	2008-06-02	2008-06-02	ENSG00000106853	ENSG00000106853	1.3.1.74, 1.3.1.48		18429	protein-coding gene	gene with protein product	"""zinc binding alcohol dehydrogenase domain containing 3"""	601274	"""leukotriene B4 12-hydroxydehydrogenase"""	LTB4DH		8576264, 17449869	Standard	NM_001146109		Approved	ZADH3	uc004bfh.2	Q14914	OTTHUMG00000020493	ENST00000407693.2:c.616G>T	9.37:g.114341111C>A	ENSP00000385763:p.Ala206Ser		Somatic				PTGR1_ENST00000309195.5_Missense_Mutation_p.A206S|PTGR1_ENST00000238248.3_Missense_Mutation_p.A83S|PTGR1_ENST00000538962.1_Missense_Mutation_p.A206S	p.A206S	NM_001146108.1	NP_001139580.1	WXS	Illumina GAIIx	Phase_I	Q14914	PTGR1_HUMAN			7	878	-			206					A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6	Missense_Mutation	SNP	ENST00000407693.2	37	c.616G>T	CCDS6779.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.758092	0.89843	0.0	2.33E-4	ENSG00000106853	ENST00000538962;ENST00000309195;ENST00000407693;ENST00000374324;ENST00000238248	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	4.95	4.95	0.65309	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.62889	0.2465	M	0.92122	3.275	0.80722	D	1	P;P;P;P	0.39920	0.678;0.64;0.64;0.695	P;P;P;P	0.55345	0.728;0.758;0.758;0.774	T	0.69793	-0.5049	10	0.62326	D	0.03	-12.6936	17.8352	0.88694	0.0:1.0:0.0:0.0	.	206;206;83;206	F5GY50;B4DPK3;Q5JVP3;Q14914	.;.;.;PTGR1_HUMAN	S	206;206;206;83;83	ENSP00000440281:A206S;ENSP00000311572:A206S;ENSP00000385763:A206S;ENSP00000238248:A83S	ENSP00000238248:A83S	A	-	1	0	PTGR1	113380932	1.000000	0.71417	0.993000	0.49108	0.928000	0.56348	5.269000	0.65542	2.676000	0.91093	0.563000	0.77884	GCG		0.358	PTGR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053647.2			5	78	1	0	0.00116845	1	0.00127921	5	78				
PLCL1	5334	broad.mit.edu	37	2	198950684	198950684	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:198950684C>T	ENST00000428675.1	+	2	2841	c.2443C>T	c.(2443-2445)Cca>Tca	p.P815S	PLCL1_ENST00000437704.2_Missense_Mutation_p.P717S	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	815					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATATACGATACCATTTGAATG	0.438																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2443-2445)Cca>Tca		phospholipase C-like 1	Quinacrine(DB01103)						209.0	189.0	196.0					2																	198950684		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950684C>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2443C>T	2.37:g.198950684C>T	ENSP00000402861:p.Pro815Ser		Somatic				PLCL1_ENST00000437704.2_Missense_Mutation_p.P717S	p.P815S	NM_006226.3	NP_006217.3	WXS	Illumina GAIIx	Phase_I	Q15111	PLCL1_HUMAN			2	2841	+			815					Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.2443C>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445777	0.63178	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.16897	2.31;2.31	5.5	5.5	0.81552	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.089947	0.49305	D	0.000148	T	0.45135	0.1327	M	0.82056	2.57	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.65010	0.931;0.931	T	0.30446	-0.9978	9	.	.	.	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	815;741	Q15111;B4DYZ4	PLCL1_HUMAN;.	S	815;717	ENSP00000402861:P815S;ENSP00000414138:P717S	.	P	+	1	0	PLCL1	198658929	1.000000	0.71417	0.867000	0.34043	0.944000	0.59088	7.641000	0.83368	2.861000	0.98227	0.655000	0.94253	CCA		0.438	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		44	86	0	0	0	1	0	44	86				
TMEM108	66000	broad.mit.edu	37	3	133098622	133098622	+	Missense_Mutation	SNP	G	G	A	rs367779843		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:133098622G>A	ENST00000321871.6	+	4	277	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	TMEM108_ENST00000515826.1_Missense_Mutation_p.E23K|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.E23K	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	23						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCACTGACCGAAGCGCTGGC	0.552																																						ENST00000515826.1																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(67-69)Gaa>Aaa		transmembrane protein 108			LYS/GLU,LYS/GLU	0,4406		0,0,2203	299.0	312.0	307.0		67,67	3.5	0.8	3		307	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TMEM108	NM_023943.2,NM_001136469.1	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	23/576,23/576	133098622	1,13005	2203	4300	6503	SO:0001583	missense	66000					integral to membrane		g.chr3:133098622G>A	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.67G>A	3.37:g.133098622G>A	ENSP00000324651:p.Glu23Lys		Somatic				TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.E23K|TMEM108_ENST00000321871.6_Missense_Mutation_p.E23K	p.E23K			WXS	Illumina GAIIx	Phase_I	Q6UXF1	TM108_HUMAN			3	190	+			23					D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	c.67G>A	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	g	15.14	2.744866	0.49151	0.0	1.16E-4	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000512137;ENST00000511555;ENST00000515826;ENST00000510183	T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64	4.41	3.52	0.40303	.	0.237850	0.21829	N	0.068514	T	0.30854	0.0778	N	0.22421	0.69	0.09310	N	0.999998	B;B	0.24132	0.098;0.098	B;B	0.16722	0.016;0.016	T	0.16188	-1.0411	10	0.39692	T	0.17	-2.7734	9.0831	0.36565	0.0849:0.1477:0.7675:0.0	.	23;23	E9PB58;Q6UXF1	.;TM108_HUMAN	K	23	ENSP00000324651:E23K;ENSP00000376838:E23K;ENSP00000426301:E23K;ENSP00000422196:E23K;ENSP00000423338:E23K;ENSP00000421486:E23K	ENSP00000324651:E23K	E	+	1	0	TMEM108	134581312	1.000000	0.71417	0.836000	0.33094	0.844000	0.47949	5.439000	0.66556	0.955000	0.37878	0.556000	0.70494	GAA		0.552	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		13	731	0	0	0	1	0	13	731				
PCDHB4	56131	broad.mit.edu	37	5	140502915	140502915	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:140502915C>T	ENST00000194152.1	+	1	1335	c.1335C>T	c.(1333-1335)gaC>gaT	p.D445D	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	445	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGTCAATGACAACGCCCCCG	0.597																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(1333-1335)gaC>gaT									103.0	95.0	98.0					5																	140502915		2203	4300	6503	SO:0001819	synonymous_variant	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502915C>T	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1335C>T	5.37:g.140502915C>T			Somatic					p.D445D	NM_018938.2	NP_061761.1	WXS	Illumina GAIIx	Phase_I	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1335	+			445			Cadherin 4.		Q4V761	Silent	SNP	ENST00000194152.1	37	c.1335C>T	CCDS4246.1																																																																																				0.597	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		27	147	0	0	0	1	0	27	147				
SETDB1	9869	broad.mit.edu	37	1	150916465	150916465	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:150916465G>A	ENST00000271640.5	+	8	1135	c.945G>A	c.(943-945)cgG>cgA	p.R315R	SETDB1_ENST00000368962.2_Silent_p.R315R|SETDB1_ENST00000368969.4_Silent_p.R315R|SETDB1_ENST00000368963.1_Missense_Mutation_p.G248D|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	315	Tudor 1.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	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;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCATTTGCCGGCCACGTGAGT	0.413																																						ENST00000368963.1																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(742-744)gGc>gAc		SET domain, bifurcated 1							201.0	178.0	186.0					1																	150916465		2203	4300	6503	SO:0001819	synonymous_variant	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150916465G>A	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.945G>A	1.37:g.150916465G>A			Somatic				SETDB1_ENST00000368969.4_Silent_p.R315R|SETDB1_ENST00000271640.5_Silent_p.R315R|SETDB1_ENST00000368962.2_Silent_p.R315R|SETDB1_ENST00000459773.1_Intron	p.248_248insD			WXS	Illumina GAIIx	Phase_I	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		7	848	+	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)		0					A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.743G>A	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	G	2.169	-0.390286	0.04932	.	.	ENSG00000143379	ENST00000368963	.	.	.	5.17	0.971	0.19698	.	.	.	.	.	T	0.34221	0.0890	.	.	.	0.29384	N	0.863094	.	.	.	.	.	.	T	0.25328	-1.0135	5	0.87932	D	0	.	10.2691	0.43473	0.3179:0.0:0.6821:0.0	.	.	.	.	D	248	.	ENSP00000357959:G248D	G	+	2	0	SETDB1	149183089	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	1.390000	0.34464	0.347000	0.23924	-0.384000	0.06662	GGC		0.413	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			4	111	0	0	0	1	0	4	111				
ITLN2	142683	broad.mit.edu	37	1	160917768	160917768	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:160917768G>T	ENST00000368029.3	-	7	833	c.776C>A	c.(775-777)gCc>gAc	p.A259D	ITLN2_ENST00000494442.1_5'UTR|RP11-544M22.1_ENST00000356006.3_RNA	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	259	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AAGGGCGTTGGCTGCTCTCTC	0.458																																						ENST00000368029.3																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19						c.(775-777)gCc>gAc		intelectin 2							120.0	107.0	111.0					1																	160917768		2203	4300	6503	SO:0001583	missense	142683				signal transduction	extracellular region	receptor binding|sugar binding	g.chr1:160917768G>T	AY065973	CCDS1212.1	1q22-q23.5	2013-02-06			ENSG00000158764	ENSG00000158764		"""Fibrinogen C domain containing"""	20599	protein-coding gene	gene with protein product		609874				11181563	Standard	NM_080878		Approved	HL-2	uc001fxd.3	Q8WWU7	OTTHUMG00000028605	ENST00000368029.3:c.776C>A	1.37:g.160917768G>T	ENSP00000357008:p.Ala259Asp		Somatic				RP11-544M22.1_ENST00000356006.3_RNA|ITLN2_ENST00000494442.1_5'UTR	p.A259D	NM_080878.2	NP_543154.1	WXS	Illumina GAIIx	Phase_I	Q8WWU7	ITLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		7	833	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		259			Fibrinogen C-terminal.		Q17RR2|Q5VYI0	Missense_Mutation	SNP	ENST00000368029.3	37	c.776C>A	CCDS1212.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074446	0.36566	.	.	ENSG00000158764	ENST00000368029	T	0.20069	2.1	4.4	2.51	0.30379	.	0.114590	0.32328	U	0.006254	T	0.29620	0.0739	M	0.87682	2.9	0.36183	D	0.849546	D;D	0.62365	0.991;0.957	P;P	0.58210	0.835;0.691	T	0.23583	-1.0184	10	0.72032	D	0.01	-3.8495	8.8052	0.34934	0.1917:0.0:0.8083:0.0	.	258;259	A6NI51;Q8WWU7	.;ITLN2_HUMAN	D	259	ENSP00000357008:A259D	ENSP00000357008:A259D	A	-	2	0	ITLN2	159184392	0.999000	0.42202	0.941000	0.38009	0.012000	0.07955	1.752000	0.38349	0.401000	0.25424	-0.266000	0.10368	GCC		0.458	ITLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071465.1	NM_080878		7	60	1	0	5.4927e-09	1	6.67052e-09	7	60				
HSPB6	126393	broad.mit.edu	37	19	36245353	36245353	+	IGR	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:36245353G>A	ENST00000592984.1	-	0	1634				AC002398.11_ENST00000591091.1_RNA|AC002398.12_ENST00000587767.1_RNA|LIN37_ENST00000301159.9_Missense_Mutation_p.R240Q|AC002398.9_ENST00000591613.2_3'UTR			O14558	HSPB6_HUMAN	heat shock protein, alpha-crystallin-related, B6						regulation of muscle contraction (GO:0006937)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			lung(1)	1	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGATCCTACGAGAGATGTAC	0.587																																						ENST00000301159.9																			0				large_intestine(1)|lung(5)	6						c.(718-720)cGa>cAa		lin-37 homolog (C. elegans)							59.0	61.0	60.0					19																	36245353		2021	4179	6200	SO:0001628	intergenic_variant	55957						protein binding	g.chr19:36245353G>A	AJ278121	CCDS12475.1	19q13.13	2014-06-12			ENSG00000004776	ENSG00000004776		"""Heat shock proteins / HSPB"""	26511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 91"""	610695				12820654, 14717697	Standard	NM_144617		Approved	FLJ32389, Hsp20, PPP1R91	uc002obn.2	O14558	OTTHUMG00000048122		19.37:g.36245353G>A			Somatic				AC002398.9_ENST00000591613.2_3'UTR	p.R240Q	NM_019104.2	NP_061977.1	WXS	Illumina GAIIx	Phase_I	Q96GY3	LIN37_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		9	1083	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		240					O14551|Q6NVI3|Q96MG9	Missense_Mutation	SNP	ENST00000592984.1	37	c.719G>A	CCDS12475.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469270	0.63625	.	.	ENSG00000188223	ENST00000301159	T	0.18502	2.21	5.81	5.81	0.92471	.	0.059976	0.64402	D	0.000003	T	0.11879	0.0289	L	0.33485	1.01	0.33332	D	0.568669	P	0.47762	0.9	B	0.35278	0.199	T	0.15407	-1.0438	10	0.56958	D	0.05	0.0461	10.9881	0.47532	0.0846:0.0:0.9154:0.0	.	240	Q96GY3	LIN37_HUMAN	Q	240	ENSP00000301159:R240Q	ENSP00000301159:R240Q	R	+	2	0	LIN37	40937193	1.000000	0.71417	0.987000	0.45799	0.910000	0.53928	6.501000	0.73691	2.753000	0.94483	0.655000	0.94253	CGA		0.587	HSPB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109498.3	NM_144617		3	37	0	0	0	1	0	3	37				
TEAD1	7003	broad.mit.edu	37	11	12902559	12902559	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:12902559C>T	ENST00000526600.1	+	2	408	c.185C>T	c.(184-186)cCg>cTg	p.P62L	TEAD1_ENST00000334310.6_Missense_Mutation_p.P147L|TEAD1_ENST00000361985.2_Missense_Mutation_p.P158L|TEAD1_ENST00000527636.1_Missense_Mutation_p.P158L|TEAD1_ENST00000361905.4_Missense_Mutation_p.P143L|TEAD1_ENST00000527575.1_Missense_Mutation_p.P158L			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	158					gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CAGTTCTGGCCGGGAATGATT	0.527																																						ENST00000361905.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17						c.(427-429)cCg>cTg		TEA domain family member 1 (SV40 transcriptional enhancer factor)							193.0	171.0	179.0					11																	12902559		2200	4294	6494	SO:0001583	missense	7003				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:12902559C>T	X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"""atrophia areata, peripapillary chorioretinal degeneration"""	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000526600.1:c.185C>T	11.37:g.12902559C>T	ENSP00000435393:p.Pro62Leu		Somatic				TEAD1_ENST00000526600.1_Missense_Mutation_p.P62L|TEAD1_ENST00000334310.6_Missense_Mutation_p.P147L|TEAD1_ENST00000361985.2_Missense_Mutation_p.P158L|TEAD1_ENST00000527575.1_Missense_Mutation_p.P158L|TEAD1_ENST00000527636.1_Missense_Mutation_p.P158L	p.P143L	NM_021961.5	NP_068780.2	WXS	Illumina GAIIx	Phase_I	P28347	TEAD1_HUMAN		Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)	7	1093	+			158			Pro-rich.		A4FUP2|E7EV65	Missense_Mutation	SNP	ENST00000526600.1	37	c.428C>T		.	.	.	.	.	.	.	.	.	.	C	18.32	3.598915	0.66332	.	.	ENSG00000187079	ENST00000361905;ENST00000527636;ENST00000527575;ENST00000334310;ENST00000361985;ENST00000526600	T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69	5.53	5.53	0.82687	.	0.153564	0.64402	D	0.000011	T	0.26521	0.0648	L	0.55213	1.73	0.80722	D	1	P;B;B	0.45594	0.862;0.339;0.006	B;B;B	0.35114	0.196;0.069;0.009	T	0.07252	-1.0782	10	0.49607	T	0.09	-14.0972	19.0724	0.93145	0.0:1.0:0.0:0.0	.	147;62;158	A4FUP2;E9PKB7;P28347	.;.;TEAD1_HUMAN	L	143;158;158;147;158;62	ENSP00000355332:P143L;ENSP00000435233:P158L;ENSP00000435977:P158L;ENSP00000334754:P147L;ENSP00000354588:P158L;ENSP00000435393:P62L	ENSP00000334754:P147L	P	+	2	0	TEAD1	12859135	1.000000	0.71417	0.966000	0.40874	0.989000	0.77384	6.001000	0.70685	2.593000	0.87608	0.655000	0.94253	CCG		0.527	TEAD1-007	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000387220.1	NM_021961		4	274	0	0	0	1	0	4	274				
COL6A3	1293	broad.mit.edu	37	2	238249767	238249767	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:238249767C>T	ENST00000295550.4	-	38	8244	c.7792G>A	c.(7792-7794)Gga>Aga	p.G2598R	COL6A3_ENST00000409809.1_Missense_Mutation_p.G2392R|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1991R|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2397R|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2398R|COL6A3_ENST00000353578.4_Missense_Mutation_p.G2392R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2598	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGCCAAATCCACAGGATGGG	0.532																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(7792-7794)Gga>Aga		collagen, type VI, alpha 3							126.0	125.0	125.0					2																	238249767		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238249767C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7792G>A	2.37:g.238249767C>T	ENSP00000295550:p.Gly2598Arg		Somatic				COL6A3_ENST00000472056.1_Missense_Mutation_p.G1991R|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2397R|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2398R|COL6A3_ENST00000409809.1_Missense_Mutation_p.G2392R|COL6A3_ENST00000353578.4_Missense_Mutation_p.G2392R	p.G2598R	NM_004369.3	NP_004360.2	WXS	Illumina GAIIx	Phase_I	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	38	8244	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2598			Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.7792G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.758249	0.31137	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.87809	-2.3;-2.29;-2.27;-2.27;-2.27;-2.27	5.05	5.05	0.67936	.	0.000000	0.51477	D	0.000082	D	0.87132	0.6101	N	0.24115	0.695	0.43300	D	0.995292	D;D;D	0.89917	0.973;0.972;1.0	P;P;D	0.76071	0.687;0.771;0.987	D	0.84142	0.0418	10	0.23302	T	0.38	.	12.1796	0.54204	0.0:0.9211:0.0:0.0789	.	1991;2392;2598	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	R	2598;2397;2392;1991;2392;2398	ENSP00000295550:G2598R;ENSP00000315609:G2397R;ENSP00000315873:G2392R;ENSP00000418285:G1991R;ENSP00000386844:G2392R;ENSP00000295546:G2398R	ENSP00000295550:G2598R	G	-	1	0	COL6A3	237914506	0.993000	0.37304	0.978000	0.43139	0.583000	0.36354	3.866000	0.56040	2.478000	0.83669	0.655000	0.94253	GGA		0.532	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		11	119	0	0	0	1	0	11	119				
EPB42	2038	broad.mit.edu	37	15	43494079	43494079	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:43494079G>T	ENST00000441366.2	-	12	2101	c.1876C>A	c.(1876-1878)Ctg>Atg	p.L626M	EPB42_ENST00000563128.1_5'UTR|EPB42_ENST00000300215.3_Missense_Mutation_p.L656M|EPB42_ENST00000540029.1_Missense_Mutation_p.L548M	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	626					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CCCCTTCCCAGGATGGAGATC	0.552																																						ENST00000300215.3																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1966-1968)Ctg>Atg		erythrocyte membrane protein band 4.2							153.0	141.0	145.0					15																	43494079		2203	4299	6502	SO:0001583	missense	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43494079G>T	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.1876C>A	15.37:g.43494079G>T	ENSP00000396616:p.Leu626Met		Somatic				EPB42_ENST00000441366.2_Missense_Mutation_p.L626M|EPB42_ENST00000540029.1_Missense_Mutation_p.L548M|EPB42_ENST00000563128.1_5'UTR	p.L656M			WXS	Illumina GAIIx	Phase_I	P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	12	2423	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	626					Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	c.1966C>A	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.398014	0.25205	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	T;T;T	0.30182	1.54;1.54;1.54	4.59	-1.28	0.09318	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	1.262640	0.05231	N	0.510291	T	0.21267	0.0512	N	0.08118	0	0.09310	N	1	P;P;P	0.46784	0.545;0.884;0.836	B;P;P	0.48030	0.281;0.451;0.564	T	0.28522	-1.0041	10	0.37606	T	0.19	-0.4499	8.0664	0.30663	0.685:0.0:0.315:0.0	.	548;656;626	F5H563;P16452-2;P16452	.;.;EPB42_HUMAN	M	656;548;626;554	ENSP00000300215:L656M;ENSP00000444699:L548M;ENSP00000396616:L626M	ENSP00000300215:L656M	L	-	1	2	EPB42	41281371	0.000000	0.05858	0.138000	0.22173	0.774000	0.43823	-1.012000	0.03649	-0.051000	0.13334	0.561000	0.74099	CTG		0.552	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		31	1223	1	0	4.47668e-21	1	5.85948e-21	31	1223				
IGFL2	147920	broad.mit.edu	37	19	46663969	46663969	+	Missense_Mutation	SNP	G	G	A	rs367624938		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:46663969G>A	ENST00000377693.4	+	3	208	c.172G>A	c.(172-174)Gtg>Atg	p.V58M	IGFL2_ENST00000600243.1_3'UTR|AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000434646.2_Missense_Mutation_p.V69M	NM_001135113.1	NP_001128585.1	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	58						extracellular region (GO:0005576)				cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		TGACGCCATCGTGTCCCTGAG	0.577																																						ENST00000434646.2																			0				cervix(1)|lung(5)	6						c.(205-207)Gtg>Atg		IGF-like family member 2		G	MET/VAL,MET/VAL	0,4400		0,0,2200	180.0	189.0	186.0		205,172	-5.7	0.0	19		186	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	IGFL2	NM_001002915.2,NM_001135113.1	21,21	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	69/131,58/120	46663969	1,12997	2200	4299	6499	SO:0001583	missense	147920					extracellular region	protein binding	g.chr19:46663969G>A	AY672112	CCDS46121.1, CCDS46122.1	19q13.32	2006-07-14							32929	protein-coding gene	gene with protein product		610545				14702039	Standard	NM_001002915		Approved	UNQ645	uc010xxv.2	Q6UWQ7		ENST00000377693.4:c.172G>A	19.37:g.46663969G>A	ENSP00000366922:p.Val58Met		Somatic				IGFL2_ENST00000377693.4_Missense_Mutation_p.V58M|AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000600243.1_3'UTR	p.V69M	NM_001002915.2	NP_001002915.2	WXS	Illumina GAIIx	Phase_I	Q6UWQ7	IGFL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)	4	496	+		Ovarian(192;0.0908)|all_neural(266;0.113)	58					E9PAV1|Q6B9Z3	Missense_Mutation	SNP	ENST00000377693.4	37	c.205G>A	CCDS46121.1	.	.	.	.	.	.	.	.	.	.	G	9.106	1.005382	0.19199	0.0	1.16E-4	ENSG00000204866	ENST00000434646;ENST00000377693	T;T	0.28895	1.59;1.59	2.83	-5.65	0.02459	.	.	.	.	.	T	0.21881	0.0527	L	0.29908	0.895	0.09310	N	1	D;D	0.61697	0.967;0.99	B;B	0.44315	0.301;0.446	T	0.29852	-0.9998	9	0.62326	D	0.03	-13.2805	11.0424	0.47838	0.0:0.1933:0.7026:0.1041	.	58;69	Q6UWQ7;Q6UWQ7-2	IGFL2_HUMAN;.	M	69;58	ENSP00000395219:V69M;ENSP00000366922:V58M	ENSP00000366922:V58M	V	+	1	0	IGFL2	51355809	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.191000	0.03055	-1.361000	0.02169	-1.640000	0.00773	GTG		0.577	IGFL2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000461705.1	NM_001002915		4	518	0	0	0	1	0	4	518				
SYNE1	23345	broad.mit.edu	37	6	152749365	152749365	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:152749365C>T	ENST00000367255.5	-	37	5552	c.4951G>A	c.(4951-4953)Gag>Aag	p.E1651K	SYNE1_ENST00000423061.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1721K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1651K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1651K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1651					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCAGATTCTCCAGCGCCGTC	0.512										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(4951-4953)Gag>Aag		spectrin repeat containing, nuclear envelope 1							196.0	204.0	201.0					6																	152749365		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152749365C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4951G>A	6.37:g.152749365C>T	ENSP00000356224:p.Glu1651Lys	HNSCC(10;0.0054)	Somatic				SYNE1_ENST00000423061.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1651K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1721K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1651K	p.E1651K	NM_182961.3	NP_892006.3	WXS	Illumina GAIIx	Phase_I	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	37	5552	-		Ovarian(120;0.0955)	1651					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.4951G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984058	0.74474	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38	5.87	5.87	0.94306	.	0.196546	0.35179	N	0.003396	T	0.58764	0.2145	M	0.65498	2.005	0.80722	D	1	P;P;P;P;P	0.49862	0.856;0.866;0.929;0.866;0.929	B;B;P;B;P	0.51582	0.393;0.419;0.674;0.419;0.539	T	0.61476	-0.7055	10	0.66056	D	0.02	.	20.206	0.98277	0.0:1.0:0.0:0.0	.	1634;1651;1651;1651;1658	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	K	1651;1658;1651;1658;1721;1651	ENSP00000356224:E1651K;ENSP00000396024:E1658K;ENSP00000265368:E1651K;ENSP00000390975:E1658K;ENSP00000341887:E1721K;ENSP00000356222:E1651K	ENSP00000265368:E1651K	E	-	1	0	SYNE1	152791058	1.000000	0.71417	0.866000	0.34008	0.585000	0.36419	6.449000	0.73473	2.785000	0.95823	0.655000	0.94253	GAG		0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		5	231	0	0	0	1	0	5	231				
SLC36A3	285641	broad.mit.edu	37	5	150663716	150663716	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:150663716T>A	ENST00000335230.3	-	8	1274	c.863A>T	c.(862-864)tAc>tTc	p.Y288F	SLC36A3_ENST00000377713.3_Missense_Mutation_p.Y329F	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	288						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATCCCCAAGTACAGAACAAA	0.448																																						ENST00000335230.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21						c.(862-864)tAc>tTc		solute carrier family 36, member 3							166.0	163.0	164.0					5																	150663716		2203	4300	6503	SO:0001583	missense	285641					integral to membrane		g.chr5:150663716T>A	AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"""Solute carriers"""	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.863A>T	5.37:g.150663716T>A	ENSP00000334750:p.Tyr288Phe		Somatic				SLC36A3_ENST00000377713.3_Missense_Mutation_p.Y329F	p.Y288F	NM_181774.3	NP_861439.3	WXS	Illumina GAIIx	Phase_I	Q495N2	S36A3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	1274	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	288					Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Missense_Mutation	SNP	ENST00000335230.3	37	c.863A>T	CCDS4314.1	.	.	.	.	.	.	.	.	.	.	T	18.64	3.667659	0.67814	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.02216	4.39;4.39	4.34	4.34	0.51931	.	0.256127	0.39834	N	0.001251	T	0.04952	0.0133	L	0.61387	1.9	0.45690	D	0.998606	B;B;B	0.32800	0.351;0.385;0.182	B;B;B	0.38500	0.093;0.275;0.127	T	0.38243	-0.9670	10	0.46703	T	0.11	.	14.0199	0.64547	0.0:0.0:0.0:1.0	.	329;288;273	Q495N2-3;Q495N2;Q495N2-2	.;S36A3_HUMAN;.	F	288;329	ENSP00000334750:Y288F;ENSP00000366942:Y329F	ENSP00000334750:Y288F	Y	-	2	0	SLC36A3	150643909	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	4.203000	0.58453	1.963000	0.57068	0.528000	0.53228	TAC		0.448	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	NM_181774		7	394	0	0	0	1	0	7	394				
NDN	4692	broad.mit.edu	37	15	23931741	23931741	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:23931741G>T	ENST00000331837.4	-	1	709	c.624C>A	c.(622-624)agC>agA	p.S208R		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	208	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TCCAGACGGCGCTCTCTCTGG	0.637									Prader-Willi syndrome																													ENST00000331837.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39						c.(622-624)agC>agA		necdin, melanoma antigen (MAGE) family member							26.0	26.0	26.0					15																	23931741		2200	4295	6495	SO:0001583	missense	4692	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23931741G>T	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.624C>A	15.37:g.23931741G>T	ENSP00000332643:p.Ser208Arg		Somatic					p.S208R	NM_002487.2	NP_002478.1	WXS	Illumina GAIIx	Phase_I	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	709	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	208			MAGE.		B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	c.624C>A	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.119867	0.56613	.	.	ENSG00000182636	ENST00000331837	T	0.05025	3.51	3.22	-2.42	0.06542	.	0.509243	0.21276	N	0.077228	T	0.09335	0.0230	L	0.38175	1.15	0.27068	N	0.963399	P	0.43788	0.817	P	0.54856	0.762	T	0.09796	-1.0658	10	0.72032	D	0.01	.	7.8533	0.29468	0.6423:0.0:0.3577:0.0	.	208	Q99608	NECD_HUMAN	R	208	ENSP00000332643:S208R	ENSP00000332643:S208R	S	-	3	2	NDN	21482834	0.017000	0.18338	0.726000	0.30738	0.918000	0.54935	-1.264000	0.02847	-0.551000	0.06175	0.561000	0.74099	AGC		0.637	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		9	98	1	0	2.27111e-07	1	2.70786e-07	9	98				
KIF19	124602	broad.mit.edu	37	17	72345343	72345343	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:72345343C>T	ENST00000389916.4	+	10	1206	c.1068C>T	c.(1066-1068)aaC>aaT	p.N356N		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	356					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						ACCTCCTGAACGTCTCCTACC	0.617																																						ENST00000389916.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(1066-1068)aaC>aaT		kinesin family member 19							83.0	71.0	75.0					17																	72345343		2203	4300	6503	SO:0001819	synonymous_variant	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72345343C>T	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1068C>T	17.37:g.72345343C>T			Somatic					p.N356N	NM_153209.3	NP_694941.2	WXS	Illumina GAIIx	Phase_I	Q2TAC6	KIF19_HUMAN			10	1206	+			356					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	ENST00000389916.4	37	c.1068C>T	CCDS32718.2																																																																																				0.617	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		5	77	0	0	0	1	0	5	77				
MGST1	4257	broad.mit.edu	37	12	16516801	16516801	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:16516801C>T	ENST00000396209.1	+	4	437	c.294C>T	c.(292-294)ccC>ccT	p.P98P	MGST1_ENST00000535309.1_Intron|MGST1_ENST00000396207.1_Silent_p.P98P|MGST1_ENST00000010404.2_Silent_p.P98P|MGST1_ENST00000396210.3_Silent_p.P98P|MGST1_ENST00000540056.1_3'UTR	NM_145791.2	NP_665734.1	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	98					cellular response to lipid hydroperoxide (GO:0071449)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|Leydig cell differentiation (GO:0033327)|oxidation-reduction process (GO:0055114)|protein homotrimerization (GO:0070207)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	apical part of cell (GO:0045177)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	glutathione binding (GO:0043295)|glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)	p.P98P(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9		Hepatocellular(102;0.121)			Glutathione(DB00143)	TGAGTGGTCCCGACCCCTCTA	0.453																																						ENST00000396209.1																			1	Substitution - coding silent(1)	p.P98P(1)	lung(1)	endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						c.(292-294)ccC>ccT		microsomal glutathione S-transferase 1	Glutathione(DB00143)						167.0	154.0	158.0					12																	16516801		2203	4300	6503	SO:0001819	synonymous_variant	4257				protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity	g.chr12:16516801C>T	U46494	CCDS8677.1, CCDS58209.1	12p12.3-p12.1	2012-06-21			ENSG00000008394	ENSG00000008394	2.5.1.18	"""Glutathione S-transferases / Microsomal"""	7061	protein-coding gene	gene with protein product		138330		GST12			Standard	NM_145792		Approved	MGST-I	uc031qgl.1	P10620	OTTHUMG00000168816	ENST00000396209.1:c.294C>T	12.37:g.16516801C>T			Somatic				MGST1_ENST00000535309.1_Intron|MGST1_ENST00000396207.1_Silent_p.P98P|MGST1_ENST00000396210.3_Silent_p.P98P|MGST1_ENST00000010404.2_Silent_p.P98P|MGST1_ENST00000540056.1_3'UTR	p.P98P	NM_145791.2	NP_665734.1	WXS	Illumina GAIIx	Phase_I	P10620	MGST1_HUMAN			4	437	+		Hepatocellular(102;0.121)	98					A8K533|G5EA53	Silent	SNP	ENST00000396209.1	37	c.294C>T	CCDS8677.1																																																																																				0.453	MGST1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401189.1	NM_145791		4	246	0	0	0	1	0	4	246				
CPSF3	51692	broad.mit.edu	37	2	9580692	9580692	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:9580692G>A	ENST00000238112.3	+	8	1039	c.833G>A	c.(832-834)tGt>tAt	p.C278Y	CPSF3_ENST00000460593.1_Missense_Mutation_p.C241Y	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	278					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|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)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		GCCAAGAAGTGTATGGCAGTG	0.373																																					Colon(194;1259 2048 3845 5218 19985)	ENST00000460593.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(721-723)tGt>tAt		cleavage and polyadenylation specific factor 3, 73kDa							196.0	168.0	178.0					2																	9580692		2203	4300	6503	SO:0001583	missense	51692				histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding	g.chr2:9580692G>A	AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"""cleavage and polyadenylation specific factor 3, 73kD subunit"""			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.833G>A	2.37:g.9580692G>A	ENSP00000238112:p.Cys278Tyr		Somatic				CPSF3_ENST00000238112.3_Missense_Mutation_p.C278Y	p.C241Y			WXS	Illumina GAIIx	Phase_I	Q9UKF6	CPSF3_HUMAN		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)	8	1860	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)	278					O14769|Q53RS2|Q96F36	Missense_Mutation	SNP	ENST00000238112.3	37	c.722G>A	CCDS1664.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619034	0.87460	.	.	ENSG00000119203	ENST00000238112;ENST00000427001;ENST00000460593	T;T	0.44881	0.91;0.91	5.36	5.36	0.76844	Beta-Casp domain (1);	0.047302	0.85682	D	0.000000	T	0.75796	0.3898	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.82884	-0.0236	10	0.87932	D	0	-15.8314	19.5055	0.95113	0.0:0.0:1.0:0.0	.	278;278	E7ER23;Q9UKF6	.;CPSF3_HUMAN	Y	278;278;241	ENSP00000238112:C278Y;ENSP00000418957:C241Y	ENSP00000238112:C278Y	C	+	2	0	CPSF3	9498143	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.747000	0.98863	2.672000	0.90937	0.551000	0.68910	TGT		0.373	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207		4	97	0	0	0	1	0	4	97				
TMEM131	23505	broad.mit.edu	37	2	98409923	98409923	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:98409923G>T	ENST00000186436.5	-	30	3708	c.3480C>A	c.(3478-3480)aaC>aaA	p.N1160K		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1160						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CGAAGGGCGGGTTCGAGGCCT	0.473																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(3478-3480)aaC>aaA		transmembrane protein 131							75.0	76.0	76.0					2																	98409923		1865	4089	5954	SO:0001583	missense	23505					integral to membrane		g.chr2:98409923G>T	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.3480C>A	2.37:g.98409923G>T	ENSP00000186436:p.Asn1160Lys		Somatic					p.N1160K	NM_015348.1	NP_056163.1	WXS	Illumina GAIIx	Phase_I	Q92545	TM131_HUMAN			30	3708	-			1160						Missense_Mutation	SNP	ENST00000186436.5	37	c.3480C>A	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699956	0.68501	.	.	ENSG00000075568	ENST00000186436;ENST00000409721	T	0.30714	1.52	6.07	4.28	0.50868	.	0.191890	0.53938	D	0.000055	T	0.25269	0.0614	L	0.50333	1.59	0.80722	D	1	P	0.38922	0.651	B	0.32677	0.15	T	0.05566	-1.0877	10	0.41790	T	0.15	-25.7655	11.3611	0.49644	0.194:0.0:0.806:0.0	.	1160	Q92545	TM131_HUMAN	K	1160;77	ENSP00000186436:N1160K	ENSP00000186436:N1160K	N	-	3	2	TMEM131	97776355	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	4.430000	0.59907	1.587000	0.49959	-0.136000	0.14681	AAC		0.473	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		9	44	1	0	1.58986e-06	1	1.87661e-06	9	44				
MCM2	4171	broad.mit.edu	37	3	127327298	127327298	+	Missense_Mutation	SNP	G	G	A	rs144869999		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:127327298G>A	ENST00000265056.7	+	7	1419	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	392					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						CGGCTGCCCCGCTCCAAGGAC	0.607																																						ENST00000265056.7																			0				ovary(3)|skin(2)|stomach(1)	6						c.(1174-1176)cGc>cAc		minichromosome maintenance complex component 2		G	HIS/ARG	0,4406		0,0,2203	70.0	75.0	74.0		1175	5.3	1.0	3	dbSNP_134	74	2,8598	2.2+/-6.3	0,2,4298	no	missense	MCM2	NM_004526.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	392/905	127327298	2,13004	2203	4300	6503	SO:0001583	missense	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127327298G>A	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.1175G>A	3.37:g.127327298G>A	ENSP00000265056:p.Arg392His		Somatic					p.R392H	NM_004526.2	NP_004517.2	WXS	Illumina GAIIx	Phase_I	P49736	MCM2_HUMAN			7	1419	+			392					Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	c.1175G>A	CCDS3043.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.6|29.6	5.022940|5.022940	0.93462|0.93462	0.0|0.0	2.33E-4|2.33E-4	ENSG00000073111|ENSG00000073111	ENST00000491422|ENST00000265056;ENST00000539922;ENST00000543142	.|T	.|0.13196	.|2.61	5.31|5.31	5.31|5.31	0.75309|0.75309	.|Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.|0.147554	.|0.64402	.|D	.|0.000006	T|T	0.39759|0.39759	0.1090|0.1090	M|M	0.79123|0.79123	2.44|2.44	0.80722|0.80722	D|D	1|1	.|B;D;D	.|0.76494	.|0.054;0.999;0.997	.|B;D;P	.|0.65140	.|0.01;0.932;0.901	T|T	0.31447|0.31447	-0.9943|-0.9943	5|10	.|0.87932	.|D	.|0	-27.9452|-27.9452	18.9654|18.9654	0.92694|0.92694	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|373;262;392	.|F5H1E9;B4DSV5;P49736	.|.;.;MCM2_HUMAN	T|H	255|392;296;373	.|ENSP00000265056:R392H	.|ENSP00000265056:R392H	A|R	+|+	1|2	0|0	MCM2|MCM2	128809988|128809988	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.558000|7.558000	0.82253|0.82253	2.476000|2.476000	0.83614|0.83614	0.591000|0.591000	0.81541|0.81541	GCT|CGC		0.607	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			6	489	0	0	0	1	0	6	489				
FRAS1	80144	broad.mit.edu	37	4	79403540	79403540	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:79403540A>T	ENST00000264895.6	+	58	9044		c.e58-1			NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1						cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TTTCTCTTCTAGTATTGCACC	0.458																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.e58-1		Fraser syndrome 1							205.0	207.0	207.0					4																	79403540		1930	4130	6060	SO:0001630	splice_region_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79403540A>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8605-1A>T	4.37:g.79403540A>T			Somatic						NM_025074.6	NP_079350.5	WXS	Illumina GAIIx	Phase_I	Q86XX4	FRAS1_HUMAN			58	9044	+								A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Splice_Site	SNP	ENST00000264895.6	37		CCDS54771.1	.	.	.	.	.	.	.	.	.	.	A	19.53	3.844222	0.71488	.	.	ENSG00000138759	ENST00000264895;ENST00000512123	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3531	0.83224	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRAS1	79622564	1.000000	0.71417	0.954000	0.39281	0.702000	0.40608	8.987000	0.93497	2.263000	0.75096	0.472000	0.43445	.		0.458	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			Intron	8	1262	0	0	0	1	0	8	1262				
LILRB4	11006	broad.mit.edu	37	19	55178153	55178153	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:55178153G>A	ENST00000391736.1	+	12	1309	c.994G>A	c.(994-996)Gcc>Acc	p.A332T	LILRB4_ENST00000391733.3_Missense_Mutation_p.A333T|LILRB4_ENST00000270452.2_Missense_Mutation_p.A332T|LILRB4_ENST00000430952.2_Missense_Mutation_p.A332T|LILRB4_ENST00000391734.3_Missense_Mutation_p.A332T	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	332					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AGCAGGTGCTGCCGTGAAGAA	0.612																																						ENST00000391736.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39						c.(994-996)Gcc>Acc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4							122.0	111.0	115.0					19																	55178153		2203	4300	6503	SO:0001583	missense	11006					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55178153G>A	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.994G>A	19.37:g.55178153G>A	ENSP00000375616:p.Ala332Thr		Somatic				LILRB4_ENST00000391734.3_Missense_Mutation_p.A332T|LILRB4_ENST00000430952.2_Missense_Mutation_p.A332T|LILRB4_ENST00000270452.2_Missense_Mutation_p.A332T|LILRB4_ENST00000391733.3_Missense_Mutation_p.A333T	p.A332T	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	WXS	Illumina GAIIx	Phase_I	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	12	1309	+			332					A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	c.994G>A	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	G	8.974	0.973686	0.18736	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.00542	7.04;7.04;7.03;6.96;7.06;6.69	1.6	0.53	0.17102	.	.	.	.	.	T	0.00845	0.0028	M	0.88979	2.995	0.09310	N	1	B;B;B;B;B	0.09022	0.002;0.001;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.001;0.002;0.001;0.002;0.001	T	0.40887	-0.9539	9	0.48119	T	0.1	.	3.7456	0.08547	0.2464:0.0:0.7536:0.0	.	332;331;333;332;332	A8MUE1;C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;.;LIRB4_HUMAN	T	332;332;332;332;333;331	ENSP00000375616:A332T;ENSP00000270452:A332T;ENSP00000408995:A332T;ENSP00000375614:A332T;ENSP00000375613:A333T;ENSP00000401962:A331T	ENSP00000270452:A332T	A	+	1	0	LILRB4	59869965	0.244000	0.23889	0.032000	0.17829	0.038000	0.13279	0.440000	0.21592	0.233000	0.21120	0.407000	0.27541	GCC		0.612	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			5	475	0	0	0	1	0	5	475				
PCLO	27445	broad.mit.edu	37	7	82581468	82581468	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:82581468G>A	ENST00000333891.9	-	5	9138	c.8801C>T	c.(8800-8802)gCa>gTa	p.A2934V	PCLO_ENST00000423517.2_Missense_Mutation_p.A2934V|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTTCTCCCTGCGGTTAAATC	0.428																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(8800-8802)gCa>gTa		piccolo presynaptic cytomatrix protein							107.0	108.0	108.0					7																	82581468		1908	4127	6035	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82581468G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8801C>T	7.37:g.82581468G>A	ENSP00000334319:p.Ala2934Val		Somatic				PCLO_ENST00000333891.8_Missense_Mutation_p.A2934V	p.A2934V	NM_014510.2	NP_055325.2	WXS	Illumina GAIIx	Phase_I	Q9Y6V0	PCLO_HUMAN			5	9138	-			2865						Missense_Mutation	SNP	ENST00000333891.9	37	c.8801C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779138	0.31502	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.21191	2.02;2.04	5.67	5.67	0.87782	.	.	.	.	.	T	0.45955	0.1368	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	T	0.33854	-0.9852	9	0.87932	D	0	.	19.7661	0.96342	0.0:0.0:1.0:0.0	.	2934;2934	Q9Y6V0-5;Q9Y6V0-6	.;.	V	2865;2934;2934	ENSP00000334319:A2934V;ENSP00000388393:A2934V	ENSP00000334319:A2934V	A	-	2	0	PCLO	82419404	1.000000	0.71417	1.000000	0.80357	0.412000	0.31113	9.830000	0.99415	2.660000	0.90430	0.557000	0.71058	GCA		0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		6	495	0	0	0	1	0	6	495				
OR10AD1	121275	broad.mit.edu	37	12	48596443	48596443	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:48596443G>A	ENST00000310248.2	-	1	727	c.633C>T	c.(631-633)ccC>ccT	p.P211P		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						TGAGCACCATGGGGCTGAGAA	0.547																																						ENST00000310248.2																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						c.(631-633)ccC>ccT		olfactory receptor, family 10, subfamily AD, member 1							83.0	70.0	75.0					12																	48596443		2203	4300	6503	SO:0001819	synonymous_variant	121275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48596443G>A		CCDS31787.1	12q13.11	2013-09-24	2002-11-13	2002-11-15	ENSG00000172640	ENSG00000172640		"""GPCR / Class A : Olfactory receptors"""	14819	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily AD, member 1 pseudogene"""	OR10AD1P			Standard	NM_001004134		Approved		uc001rrl.1	Q8NGE0	OTTHUMG00000168027	ENST00000310248.2:c.633C>T	12.37:g.48596443G>A			Somatic					p.P211P	NM_001004134.1	NP_001004134.1	WXS	Illumina GAIIx	Phase_I	Q8NGE0	O10AD_HUMAN			1	727	-			211					B9EGT9|Q6IFA8	Silent	SNP	ENST00000310248.2	37	c.633C>T	CCDS31787.1																																																																																				0.547	OR10AD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397577.1			6	358	0	0	0	1	0	6	358				
LILRA1	11024	broad.mit.edu	37	19	55106130	55106130	+	Splice_Site	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:55106130G>A	ENST00000251372.3	+	4	253	c.71G>A	c.(70-72)gGg>gAg	p.G24E	LILRA1_ENST00000453777.1_Splice_Site_p.G24E|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	24					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.G24E(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TTCCTTCCAGGGACCCTCCCC	0.587																																						ENST00000453777.1																			1	Substitution - Missense(1)	p.G24E(1)	central_nervous_system(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.e4-1		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1							55.0	59.0	57.0					19																	55106130		2203	4300	6503	SO:0001630	splice_region_variant	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106130G>A	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.71-1G>A	19.37:g.55106130G>A			Somatic				LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Splice_Site_p.G24_splice|LILRB1_ENST00000396321.2_Intron	p.G24_splice	NM_001278318.1	NP_001265247.1	WXS	Illumina GAIIx	Phase_I	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	4	241	+			24					O75018|Q3MJA6	Splice_Site	SNP	ENST00000251372.3	37	c.70_splice	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	G	9.608	1.130539	0.21041	.	.	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.00527	6.82;6.79	1.58	1.58	0.23477	Immunoglobulin-like fold (1);	0.925333	0.08964	N	0.868253	T	0.00845	0.0028	M	0.64630	1.985	0.22511	N	0.999036	D;P	0.54601	0.967;0.717	P;B	0.52909	0.713;0.32	T	0.54497	-0.8285	9	.	.	.	.	6.6677	0.23050	0.0:0.0:1.0:0.0	.	24;24	O75019-2;O75019	.;LIRA1_HUMAN	E	24	ENSP00000251372:G24E;ENSP00000413715:G24E	.	G	+	2	0	LILRA1	59797942	0.010000	0.17322	0.735000	0.30896	0.025000	0.11179	-0.299000	0.08254	1.198000	0.43158	0.194000	0.17425	GGG		0.587	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863	Missense_Mutation	18	25	0	0	0	1	0	18	25				
SLC8A3	6547	broad.mit.edu	37	14	70530595	70530595	+	Intron	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:70530595C>A	ENST00000381269.2	-	3	2538				SLC8A3_ENST00000357887.3_Missense_Mutation_p.K612N|SLC8A3_ENST00000534137.1_Intron|SLC8A3_ENST00000356921.2_Intron|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000216568.7_Intron|SLC8A3_ENST00000533899.1_5'Flank|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000528359.1_Missense_Mutation_p.K612N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3						blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TGAAGTAATTCTTGTTTTTCT	0.403																																						ENST00000357887.3																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(1834-1836)aaG>aaT		solute carrier family 8 (sodium/calcium exchanger), member 3							211.0	173.0	186.0					14																	70530595		2203	4300	6503	SO:0001627	intron_variant	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70530595C>A	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1785-2939G>T	14.37:g.70530595C>A			Somatic				SLC8A3_ENST00000356921.2_Intron|SLC8A3_ENST00000381269.2_Intron|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000528359.1_Missense_Mutation_p.K612N|SLC8A3_ENST00000534137.1_Intron|SLC8A3_ENST00000216568.7_Intron|SLC8A3_ENST00000394330.2_Intron	p.K612N	NM_033262.3	NP_150287.1	WXS	Illumina GAIIx	Phase_I	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	3	2589	-			612		E -> Q (in a breast cancer sample; somatic mutation).	Calx-beta 2.		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.1836G>T	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653070	0.67472	.	.	ENSG00000100678	ENST00000357887;ENST00000528359	T;T	0.29397	1.57;1.57	4.99	4.99	0.66335	.	.	.	.	.	T	0.41190	0.1148	M	0.82923	2.615	0.45995	D	0.998802	B	0.32800	0.385	B	0.31495	0.131	T	0.45323	-0.9269	9	0.44086	T	0.13	.	18.6294	0.91354	0.0:1.0:0.0:0.0	.	612	Q96QG2	.	N	612	ENSP00000350560:K612N;ENSP00000433531:K612N	ENSP00000350560:K612N	K	-	3	2	SLC8A3	69600348	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.666000	0.68059	2.456000	0.83038	0.557000	0.71058	AAG		0.403	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			5	545	1	0	0.217242	1	0.220613	5	545				
CP	1356	broad.mit.edu	37	3	148904372	148904372	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:148904372C>T	ENST00000264613.6	-	11	2274	c.2012G>A	c.(2011-2013)cGg>cAg	p.R671Q	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	671	F5/8 type A 2.|Plastocyanin-like 4.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TGTGTCTCTCCGTTCTCCTCT	0.458																																						ENST00000264613.6																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2011-2013)cGg>cAg		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						192.0	170.0	177.0					3																	148904372		2203	4300	6503	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148904372C>T	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2012G>A	3.37:g.148904372C>T	ENSP00000264613:p.Arg671Gln		Somatic				CP_ENST00000462336.1_5'UTR	p.R671Q	NM_000096.3	NP_000087.1	WXS	Illumina GAIIx	Phase_I	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		11	2274	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	671			F5/8 type A 2.|Plastocyanin-like 4.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.2012G>A	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.254354	0.39896	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.99797	-6.79;-6.79	5.91	1.99	0.26369	Cupredoxin (2);	0.137826	0.64402	D	0.000007	D	0.98966	0.9648	M	0.79123	2.44	0.31966	N	0.607735	P;P;P;P	0.50272	0.933;0.887;0.933;0.933	B;B;B;B	0.33799	0.17;0.12;0.17;0.17	D	0.96255	0.9186	10	0.52906	T	0.07	-9.8774	13.2971	0.60303	0.1165:0.5467:0.3368:0.0	.	671;671;671;671	A5PL27;A8K5A4;P00450;Q1L857	.;.;CERU_HUMAN;.	Q	671;454	ENSP00000264613:R671Q;ENSP00000420545:R454Q	ENSP00000264613:R671Q	R	-	2	0	CP	150387062	1.000000	0.71417	0.169000	0.22859	0.316000	0.28119	1.078000	0.30754	0.078000	0.16900	-0.165000	0.13383	CGG		0.458	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		6	316	0	0	0	1	0	6	316				
CCDC183	84960	broad.mit.edu	37	9	139699235	139699235	+	Missense_Mutation	SNP	C	C	A	rs376050386		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:139699235C>A	ENST00000338005.6	+	8	849	c.814C>A	c.(814-816)Ccc>Acc	p.P272T	KIAA1984_ENST00000371682.3_3'UTR|RP11-216L13.18_ENST00000471502.1_RNA|KIAA1984-AS1_ENST00000414656.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		272										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CTTGGACTTCCCCTCGAACCT	0.642																																						ENST00000338005.6																			0				biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.(814-816)Ccc>Acc		KIAA1984							75.0	85.0	82.0					9																	139699235		2073	4193	6266	SO:0001583	missense	84960							g.chr9:139699235C>A																												ENST00000338005.6:c.814C>A	9.37:g.139699235C>A	ENSP00000338013:p.Pro272Thr		Somatic				KIAA1984_ENST00000371682.3_3'UTR|KIAA1984-AS1_ENST00000414656.1_RNA	p.P272T	NM_001039374.4	NP_001034463.4	WXS	Illumina GAIIx	Phase_I	Q5T5S1	K1984_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)	8	849	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)	272					B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP	ENST00000338005.6	37	c.814C>A	CCDS43906.1	.	.	.	.	.	.	.	.	.	.	C	9.679	1.148818	0.21288	.	.	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.12465	2.68	3.7	-0.283	0.12874	.	0.357292	0.19871	U	0.104181	T	0.10465	0.0256	L	0.56769	1.78	0.38781	D	0.954778	B	0.20671	0.047	B	0.15484	0.013	T	0.21965	-1.0230	10	0.12766	T	0.61	-5.3465	6.3232	0.21229	0.0:0.4162:0.0:0.5838	.	272	Q5T5S1	K1984_HUMAN	T	272	ENSP00000338013:P272T	ENSP00000338013:P272T	P	+	1	0	KIAA1984	138819056	0.006000	0.16342	0.580000	0.28601	0.447000	0.32167	-0.468000	0.06656	0.044000	0.15775	0.561000	0.74099	CCC		0.642	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1			3	37	1	0	0.00909568	1	0.0096878	3	37				
MYOM1	8736	broad.mit.edu	37	18	3090749	3090749	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:3090749C>A	ENST00000356443.4	-	27	4249	c.3916G>T	c.(3916-3918)Gaa>Taa	p.E1306*	MYOM1_ENST00000400569.3_Nonsense_Mutation_p.E1306*|RNU7-25P_ENST00000516544.1_RNA|MYOM1_ENST00000261606.7_Nonsense_Mutation_p.E1210*	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1306					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGTAGCTTTTCCATGAACATT	0.378																																						ENST00000400569.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(3916-3918)Gaa>Taa		myomesin 1							196.0	184.0	188.0					18																	3090749		1941	4144	6085	SO:0001587	stop_gained	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3090749C>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.3916G>T	18.37:g.3090749C>A	ENSP00000348821:p.Glu1306*		Somatic				MYOM1_ENST00000356443.4_Nonsense_Mutation_p.E1306*|MYOM1_ENST00000261606.7_Nonsense_Mutation_p.E1210*	p.E1306*			WXS	Illumina GAIIx	Phase_I	P52179	MYOM1_HUMAN			27	4249	-			1306					Q14BD6|Q6H969|Q6ZUU0	Nonsense_Mutation	SNP	ENST00000356443.4	37	c.3916G>T	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	48	14.294323	0.99789	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	.	.	.	5.7	4.81	0.61882	.	0.211991	0.48767	D	0.000176	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	16.4814	0.84158	0.0:0.8687:0.1312:0.0	.	.	.	.	X	1306;1306;1210	.	ENSP00000261606:E1210X	E	-	1	0	MYOM1	3080749	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	7.818000	0.86416	1.368000	0.46115	0.591000	0.81541	GAA		0.378	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		63	327	1	0	5.80444e-35	1	7.82337e-35	63	327				
GUF1	60558	broad.mit.edu	37	4	44696434	44696434	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:44696434A>T	ENST00000281543.5	+	14	1813	c.1619A>T	c.(1618-1620)gAt>gTt	p.D540V	RP11-700J17.1_ENST00000610260.1_RNA|GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						TTTAGTTTTGATTACGAAGAT	0.343																																						ENST00000281543.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.(1618-1620)gAt>gTt		GUF1 GTPase homolog (S. cerevisiae)							84.0	86.0	85.0					4																	44696434		2203	4298	6501	SO:0001583	missense	60558				translation	mitochondrial inner membrane	GTP binding|GTPase activity	g.chr4:44696434A>T		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1619A>T	4.37:g.44696434A>T	ENSP00000281543:p.Asp540Val		Somatic				GUF1_ENST00000506793.1_3'UTR	p.D540V	NM_021927.2	NP_068746.2	WXS	Illumina GAIIx	Phase_I	Q8N442	GUF1_HUMAN			14	1813	+			540						Missense_Mutation	SNP	ENST00000281543.5	37	c.1619A>T	CCDS3468.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.215622	0.79352	.	.	ENSG00000151806	ENST00000281543	T	0.64085	-0.08	5.41	5.41	0.78517	Elongation factor G/III/V (1);Translation elongation factor EFG/EF2, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.83945	0.5364	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88299	0.2948	10	0.87932	D	0	-19.6991	14.6308	0.68655	1.0:0.0:0.0:0.0	.	540	Q8N442	GUF1_HUMAN	V	540	ENSP00000281543:D540V	ENSP00000281543:D540V	D	+	2	0	GUF1	44391191	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	8.881000	0.92415	2.055000	0.61198	0.482000	0.46254	GAT		0.343	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927		4	45	0	0	0	1	0	4	45				
PAPD7	11044	broad.mit.edu	37	5	6751279	6751279	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:6751279C>A	ENST00000230859.6	+	11	1367	c.1238C>A	c.(1237-1239)tCc>tAc	p.S413Y		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	643	PAP-associated.				double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCCACCACTTCCAGAACACTG	0.587																																					NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1237-1239)tCc>tAc		PAP associated domain containing 7							119.0	115.0	116.0					5																	6751279		2203	4300	6503	SO:0001583	missense	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6751279C>A	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1238C>A	5.37:g.6751279C>A	ENSP00000230859:p.Ser413Tyr		Somatic					p.S413Y	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	WXS	Illumina GAIIx	Phase_I	Q5XG87	PAPD7_HUMAN			11	1367	+			413					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	c.1238C>A	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.430951	0.43122	.	.	ENSG00000112941	ENST00000230859	T	0.34275	1.37	5.9	5.9	0.94986	.	0.388013	0.28533	N	0.015009	T	0.31606	0.0802	N	0.16478	0.41	0.33639	D	0.606982	B;B	0.28512	0.214;0.214	B;B	0.34873	0.191;0.191	T	0.45026	-0.9289	10	0.72032	D	0.01	-3.3499	18.4595	0.90734	0.0:1.0:0.0:0.0	.	413;413	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	Y	413	ENSP00000230859:S413Y	ENSP00000230859:S413Y	S	+	2	0	PAPD7	6804279	0.974000	0.33945	0.078000	0.20375	0.314000	0.28054	4.239000	0.58694	2.788000	0.95919	0.650000	0.86243	TCC		0.587	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		19	173	1	0	6.44725e-10	1	7.96107e-10	19	173				
HIPK3	10114	broad.mit.edu	37	11	33373738	33373738	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:33373738A>G	ENST00000303296.4	+	16	3403	c.3098A>G	c.(3097-3099)cAg>cGg	p.Q1033R	HIPK3_ENST00000379016.3_Missense_Mutation_p.Q1012R|HIPK3_ENST00000525975.1_Missense_Mutation_p.Q1012R|HIPK3_ENST00000456517.1_Missense_Mutation_p.Q1012R|AL122015.1_ENST00000411202.1_RNA	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1033					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						AGATTAAACCAGCCTTCTGCA	0.403																																						ENST00000303296.4																			0				endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						c.(3097-3099)cAg>cGg		homeodomain interacting protein kinase 3							145.0	147.0	146.0					11																	33373738		2202	4298	6500	SO:0001583	missense	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33373738A>G	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.3098A>G	11.37:g.33373738A>G	ENSP00000304226:p.Gln1033Arg		Somatic				HIPK3_ENST00000525975.1_Missense_Mutation_p.Q1012R|HIPK3_ENST00000379016.3_Missense_Mutation_p.Q1012R|HIPK3_ENST00000456517.1_Missense_Mutation_p.Q1012R	p.Q1033R	NM_005734.3	NP_005725.3	WXS	Illumina GAIIx	Phase_I	Q9H422	HIPK3_HUMAN			16	3403	+			1033					O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	37	c.3098A>G	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	A	12.89	2.074183	0.36566	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.51817	0.71;0.69;0.71;0.71	5.62	5.62	0.85841	.	0.000000	0.53938	D	0.000047	T	0.30885	0.0779	N	0.08118	0	0.43550	D	0.995855	B;B	0.28291	0.206;0.13	B;B	0.31614	0.133;0.09	T	0.15321	-1.0441	10	0.23302	T	0.38	.	15.82	0.78633	1.0:0.0:0.0:0.0	.	1012;1033	Q9H422-2;Q9H422	.;HIPK3_HUMAN	R	1012;1033;1012;1012	ENSP00000431710:Q1012R;ENSP00000304226:Q1033R;ENSP00000368301:Q1012R;ENSP00000398241:Q1012R	ENSP00000304226:Q1033R	Q	+	2	0	HIPK3	33330314	1.000000	0.71417	1.000000	0.80357	0.484000	0.33280	7.139000	0.77314	2.150000	0.67090	0.533000	0.62120	CAG		0.403	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		7	506	0	0	0	1	0	7	506				
SLC25A21	89874	broad.mit.edu	37	14	37194883	37194883	+	Splice_Site	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:37194883C>G	ENST00000331299.5	-	6	846		c.e6-1		SLC25A21_ENST00000555449.1_Splice_Site	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21						cellular nitrogen compound metabolic process (GO:0034641)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TGGCGAATGTCTAGAAAAATT	0.358																																						ENST00000331299.5																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9						c.e6-1		solute carrier family 25 (mitochondrial oxoadipate carrier), member 21							74.0	71.0	72.0					14																	37194883		2203	4300	6503	SO:0001630	splice_region_variant	89874				lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding	g.chr14:37194883C>G	AJ278148	CCDS9663.1, CCDS55913.1	14q13.3	2014-01-28	2012-03-29		ENSG00000183032	ENSG00000183032		"""Solute carriers"""	14411	protein-coding gene	gene with protein product		607571	"""solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21"""			11083877	Standard	NM_030631		Approved	ODC1, ODC	uc001wtz.2	Q9BQT8	OTTHUMG00000140250	ENST00000331299.5:c.331-1G>C	14.37:g.37194883C>G			Somatic				SLC25A21_ENST00000555449.1_Splice_Site		NM_030631.3	NP_085134.1	WXS	Illumina GAIIx	Phase_I	Q9BQT8	ODC_HUMAN	Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)	6	846	-	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)							A8K0L0|G3V4L5|Q3MJ99	Splice_Site	SNP	ENST00000331299.5	37		CCDS9663.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848068	0.51164	.	.	ENSG00000183032	ENST00000555449;ENST00000331299	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3324	0.94297	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC25A21	36264634	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	5.940000	0.70187	2.569000	0.86673	0.650000	0.86243	.		0.358	SLC25A21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276732.2	NM_030631	Intron	22	47	0	0	0	1	0	22	47				
ZNF106	64397	broad.mit.edu	37	15	42743241	42743241	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:42743241G>C	ENST00000263805.4	-	2	1486	c.1160C>G	c.(1159-1161)aCa>aGa	p.T387R	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	387					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CTGTATTCCTGTAGTTATCAA	0.388																																						ENST00000263805.4																			0											c.(1159-1161)aCa>aGa		zinc finger protein 106							235.0	228.0	230.0					15																	42743241		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42743241G>C	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.1160C>G	15.37:g.42743241G>C	ENSP00000263805:p.Thr387Arg		Somatic				ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	p.T387R	NM_022473.1	NP_071918.1	WXS	Illumina GAIIx	Phase_I					2	1486	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.1160C>G	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	G	1.150	-0.646954	0.03506	.	.	ENSG00000103994	ENST00000263805	T	0.54675	0.56	5.3	1.28	0.21552	.	1.481790	0.03824	N	0.267952	T	0.39036	0.1063	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.24728	-1.0152	10	0.48119	T	0.1	1.1646	5.2383	0.15458	0.2835:0.2545:0.4619:0.0	.	170;387	B4DGC7;Q9H2Y7	.;ZF106_HUMAN	R	387	ENSP00000263805:T387R	ENSP00000263805:T387R	T	-	2	0	ZFP106	40530533	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.066000	0.14489	0.081000	0.16988	-0.141000	0.14075	ACA		0.388	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		6	848	0	0	0	1	0	6	848				
ZNF614	80110	broad.mit.edu	37	19	52519551	52519551	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:52519551T>C	ENST00000270649.6	-	5	1844	c.1300A>G	c.(1300-1302)Aaa>Gaa	p.K434E	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	434					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)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GTGAAGCCTTTACCACATTCA	0.418																																						ENST00000270649.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1300-1302)Aaa>Gaa		zinc finger protein 614							134.0	135.0	135.0					19																	52519551		2203	4300	6503	SO:0001583	missense	80110				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52519551T>C	BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.1300A>G	19.37:g.52519551T>C	ENSP00000270649:p.Lys434Glu		Somatic				ZNF614_ENST00000356322.6_Intron	p.K434E	NM_025040.3	NP_079316.2	WXS	Illumina GAIIx	Phase_I	Q8N883	ZN614_HUMAN		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1844	-		all_neural(266;0.0505)	434					Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	ENST00000270649.6	37	c.1300A>G	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.049731	0.75846	.	.	ENSG00000142556	ENST00000270649	T	0.27104	1.69	3.5	3.5	0.40072	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43809	0.1264	L	0.60957	1.885	0.23070	N	0.998347	D	0.71674	0.998	D	0.66497	0.944	T	0.16541	-1.0399	9	0.72032	D	0.01	.	11.1446	0.48424	0.0:0.0:0.0:1.0	.	434	Q8N883	ZN614_HUMAN	E	434	ENSP00000270649:K434E	ENSP00000270649:K434E	K	-	1	0	ZNF614	57211363	0.999000	0.42202	0.736000	0.30914	0.966000	0.64601	5.184000	0.65070	1.447000	0.47661	0.460000	0.39030	AAA		0.418	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		4	264	0	0	0	1	0	4	264				
A1CF	29974	broad.mit.edu	37	10	52575768	52575768	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:52575768C>A	ENST00000373993.1	-	7	1183	c.1139G>T	c.(1138-1140)aGa>aTa	p.R380I	A1CF_ENST00000374001.2_Missense_Mutation_p.R380I|A1CF_ENST00000373995.3_Missense_Mutation_p.R388I|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000395489.2_Missense_Mutation_p.R373I|A1CF_ENST00000373997.3_Missense_Mutation_p.R380I|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000395495.1_Missense_Mutation_p.R325I|A1CF_ENST00000282641.2_Missense_Mutation_p.R380I			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	380	Required for nuclear localization. {ECO:0000269|PubMed:12896982}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGTGTTACCTCTAACAGAAGG	0.458																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(1117-1119)aGa>aTa		APOBEC1 complementation factor							109.0	108.0	108.0					10																	52575768		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52575768C>A	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1139G>T	10.37:g.52575768C>A	ENSP00000363105:p.Arg380Ile		Somatic				A1CF_ENST00000373993.1_Missense_Mutation_p.R380I|A1CF_ENST00000282641.2_Missense_Mutation_p.R380I|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000395495.1_Missense_Mutation_p.R325I|A1CF_ENST00000374001.1_Missense_Mutation_p.R380I|A1CF_ENST00000373997.3_Missense_Mutation_p.R380I|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373995.3_Missense_Mutation_p.R388I	p.R373I	NM_001198819.1	NP_001185748.1	WXS	Illumina GAIIx	Phase_I	Q9NQ94	A1CF_HUMAN			11	1514	-			380			Required for nuclear localization.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.1118G>T	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855943	0.71834	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489	T;T;T;T;T;T;T	0.16457	2.69;2.58;2.69;2.67;2.58;2.34;2.58	5.78	5.78	0.91487	.	0.044839	0.85682	D	0.000000	T	0.33030	0.0849	L	0.54323	1.7	0.80722	D	1	D;P;B;B	0.55605	0.972;0.8;0.328;0.1	P;B;B;B	0.57057	0.812;0.259;0.079;0.041	T	0.00276	-1.1855	10	0.38643	T	0.18	.	17.5056	0.87745	0.0:1.0:0.0:0.0	.	373;380;380;388	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	I	380;380;380;388;380;325;363;373	ENSP00000363113:R380I;ENSP00000363105:R380I;ENSP00000363109:R380I;ENSP00000363107:R388I;ENSP00000282641:R380I;ENSP00000378873:R325I;ENSP00000378868:R373I	ENSP00000282641:R380I	R	-	2	0	A1CF	52245774	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.263000	0.78421	2.742000	0.94016	0.650000	0.86243	AGA		0.458	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		15	129	1	0	2.32078e-09	1	2.8478e-09	15	129				
IGLV3-19	28797	broad.mit.edu	37	22	23063563	23063563	+	RNA	SNP	C	C	A	rs532332815	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:23063563C>A	ENST00000390309.2	+	0	310									immunoglobulin lambda variable 3-19																		ACACAGCTTCCTTGACCATCA	0.542													N|||	3	0.000599042	0.0	0.0	5008	,	,		16654	0.0		0.002	False		,,,				2504	0.001					ENST00000390309.2																			0																				63.0	66.0	65.0					22																	23063563		1946	4143	6089			28797							g.chr22:23063563C>A	X56178		22q11.2	2012-02-08			ENSG00000211663	ENSG00000211663		"""Immunoglobulins / IGL locus"""	5903	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151226		22.37:g.23063563C>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	310	+									RNA	SNP	ENST00000390309.2	37																																																																																						0.542	IGLV3-19-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321830.1	NG_000002		6	129	1	0	0.217242	1	0.220613	6	129				
ALOX5AP	241	broad.mit.edu	37	13	31330136	31330136	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr13:31330136C>T	ENST00000380490.3	+	4	395	c.297C>T	c.(295-297)gtC>gtT	p.V99V		NM_001204406.1|NM_001629.3	NP_001191335.1|NP_001620.2	P20292	AL5AP_HUMAN	arachidonate 5-lipoxygenase-activating protein	99					arachidonic acid metabolic process (GO:0019369)|cellular response to calcium ion (GO:0071277)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|positive regulation of acute inflammatory response (GO:0002675)|protein homotrimerization (GO:0070207)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	arachidonic acid binding (GO:0050544)|enzyme activator activity (GO:0008047)|protein N-terminus binding (GO:0047485)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)		AGTACTTTGTCGGTTACCTAG	0.448																																						ENST00000380490.3																			0				endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4						c.(295-297)gtC>gtT		arachidonate 5-lipoxygenase-activating protein							175.0	148.0	157.0					13																	31330136		2203	4300	6503	SO:0001819	synonymous_variant	241				cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	arachidonic acid binding|protein N-terminus binding	g.chr13:31330136C>T	AH001462	CCDS9337.1, CCDS73558.1	13q12	2008-07-18			ENSG00000132965	ENSG00000132965			436	protein-coding gene	gene with protein product	"""five-lipoxygenase activating protein"", ""MK-886-binding protein"""	603700				1673682, 10036194	Standard	NM_001629		Approved	FLAP	uc010tdr.2	P20292	OTTHUMG00000016677	ENST00000380490.3:c.297C>T	13.37:g.31330136C>T			Somatic					p.V99V	NM_001204406.1|NM_001629.3	NP_001191335.1|NP_001620.2	WXS	Illumina GAIIx	Phase_I	P20292	AL5AP_HUMAN		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)	4	395	+		Lung SC(185;0.0257)|Breast(139;0.203)	99					Q5VV04	Silent	SNP	ENST00000380490.3	37	c.297C>T	CCDS9337.1																																																																																				0.448	ALOX5AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044372.1	NM_001629		4	164	0	0	0	1	0	4	164				
UHRF1	29128	broad.mit.edu	37	19	4910785	4910785	+	RNA	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:4910785G>A	ENST00000592666.1	+	0	566							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GGAGTTTCCTGGTGTCCACAG	0.547											OREG0025176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000592666.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16								ubiquitin-like with PHD and ring finger domains 1																																						29128				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:4910785G>A	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4910785G>A			Somatic	OREG0025176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	622					WXS	Illumina GAIIx	Phase_I	Q96T88	UHRF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)	0	566	+								A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	ENST00000592666.1	37																																																																																						0.547	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		3	16	0	0	0	1	0	3	16				
COL5A3	50509	broad.mit.edu	37	19	10108791	10108791	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:10108791G>A	ENST00000264828.3	-	9	1230	c.1145C>T	c.(1144-1146)gCa>gTa	p.A382V	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	382	Nonhelical region.				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)			TTCAATCACTGCGGGCTCTCC	0.537																																						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.(1144-1146)gCa>gTa		collagen, type V, alpha 3							244.0	228.0	233.0					19																	10108791		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10108791G>A	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.1145C>T	19.37:g.10108791G>A	ENSP00000264828:p.Ala382Val		Somatic					p.A382V	NM_015719.3	NP_056534.2	WXS	Illumina GAIIx	Phase_I	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		9	1230	-			382			Nonhelical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.1145C>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213504	0.79352	.	.	ENSG00000080573	ENST00000264828	D	0.90324	-2.65	4.75	4.75	0.60458	.	0.074578	0.52532	D	0.000068	D	0.94801	0.8321	M	0.80616	2.505	0.52099	D	0.999945	D	0.76494	0.999	D	0.87578	0.998	D	0.94449	0.7665	10	0.49607	T	0.09	.	13.1677	0.59581	0.0:0.0:1.0:0.0	.	382	P25940	CO5A3_HUMAN	V	382	ENSP00000264828:A382V	ENSP00000264828:A382V	A	-	2	0	COL5A3	9969791	0.996000	0.38824	0.095000	0.20976	0.743000	0.42351	3.264000	0.51553	2.497000	0.84241	0.306000	0.20318	GCA		0.537	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		10	1146	0	0	0	1	0	10	1146				
GLI3	2737	broad.mit.edu	37	7	42079650	42079650	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:42079650C>T	ENST00000395925.3	-	7	1099	c.1015G>A	c.(1015-1017)Gca>Aca	p.A339T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	339					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATTGCACTTGCAGATAAGTGA	0.418									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(1015-1017)Gca>Aca		GLI family zinc finger 3							122.0	112.0	115.0					7																	42079650		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42079650C>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1015G>A	7.37:g.42079650C>T	ENSP00000379258:p.Ala339Thr		Somatic				GLI3_ENST00000479210.1_5'UTR	p.A339T	NM_000168.5	NP_000159.3	WXS	Illumina GAIIx	Phase_I	P10071	GLI3_HUMAN			7	1099	-			339					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.1015G>A	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011539	0.93346	.	.	ENSG00000106571	ENST00000395925	T	0.22945	1.93	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.54447	0.1859	M	0.80616	2.505	0.80722	D	1	D	0.67145	0.996	D	0.64506	0.926	T	0.57394	-0.7819	10	0.62326	D	0.03	.	19.6584	0.95853	0.0:1.0:0.0:0.0	.	339	P10071	GLI3_HUMAN	T	339	ENSP00000379258:A339T	ENSP00000379258:A339T	A	-	1	0	GLI3	42046175	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.809000	0.86057	2.646000	0.89796	0.655000	0.94253	GCA		0.418	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		5	182	0	0	0	1	0	5	182				
DNAH9	1770	broad.mit.edu	37	17	11784722	11784722	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:11784722C>A	ENST00000262442.4	+	55	10866	c.10798C>A	c.(10798-10800)Cag>Aag	p.Q3600K	DNAH9_ENST00000608377.1_5'Flank|DNAH9_ENST00000454412.2_Missense_Mutation_p.Q3600K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3600	AAA 5. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGACTTGGAGCAGCTGAAGGT	0.587																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(10798-10800)Cag>Aag		dynein, axonemal, heavy chain 9							38.0	34.0	36.0					17																	11784722		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11784722C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.10798C>A	17.37:g.11784722C>A	ENSP00000262442:p.Gln3600Lys		Somatic				DNAH9_ENST00000454412.2_Missense_Mutation_p.Q3600K	p.Q3600K	NM_001372.3	NP_001363.2	WXS	Illumina GAIIx	Phase_I	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	55	10866	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3600			AAA 5 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.10798C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	7.492	0.650792	0.14516	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.21191	2.02;2.02	5.06	1.73	0.24493	.	0.406001	0.27744	N	0.018025	T	0.07143	0.0181	N	0.03238	-0.38	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.26744	-1.0094	10	0.06625	T	0.88	.	9.6024	0.39612	0.2062:0.5463:0.2475:0.0	.	3600	Q9NYC9	DYH9_HUMAN	K	3600;3600;2182	ENSP00000262442:Q3600K;ENSP00000414874:Q3600K	ENSP00000262442:Q3600K	Q	+	1	0	DNAH9	11725447	0.995000	0.38212	1.000000	0.80357	0.930000	0.56654	0.683000	0.25349	0.802000	0.34089	0.655000	0.94253	CAG		0.587	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		14	38	1	0	4.7546e-09	1	5.79806e-09	14	38				
PPP6C	5537	broad.mit.edu	37	9	127951918	127951918	+	Intron	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:127951918C>A	ENST00000373547.4	-	1	175				PPP6C_ENST00000415905.1_Intron|PPP6C_ENST00000373546.3_Intron|PPP6C_ENST00000451402.1_Missense_Mutation_p.S27I	NM_002721.4	NP_002712.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit						G1/S transition of mitotic cell cycle (GO:0000082)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						GCAAATAGGGCTCACCTTCAG	0.632																																						ENST00000451402.1																			0				NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						c.(79-81)aGc>aTc		protein phosphatase 6, catalytic subunit							35.0	40.0	38.0					9																	127951918		2203	4300	6503	SO:0001627	intron_variant	5537				G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr9:127951918C>A	AF035158	CCDS6861.1, CCDS48018.1, CCDS48019.1	9q33.3	2010-03-17			ENSG00000119414	ENSG00000119414		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9323	protein-coding gene	gene with protein product		612725				9143513	Standard	NM_002721		Approved	PP6	uc004bpg.4	O00743	OTTHUMG00000020671	ENST00000373547.4:c.75+4G>T	9.37:g.127951918C>A			Somatic				PPP6C_ENST00000415905.1_Intron|PPP6C_ENST00000373546.3_Intron|PPP6C_ENST00000373547.4_Intron	p.S27I	NM_001123355.1	NP_001116827.1	WXS	Illumina GAIIx	Phase_I	O00743	PPP6_HUMAN			1	300	-			25					B2R5V6|B7Z2W9|B7Z5K9|Q5U0A2|Q9UIC9	Missense_Mutation	SNP	ENST00000373547.4	37	c.80G>T	CCDS6861.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462037	0.43736	.	.	ENSG00000119414	ENST00000451402	T	0.18502	2.21	3.16	3.16	0.36331	.	.	.	.	.	T	0.10337	0.0253	.	.	.	0.80722	D	1	B	0.30361	0.277	B	0.23275	0.045	T	0.16660	-1.0395	8	0.25106	T	0.35	.	10.0883	0.42432	0.0:1.0:0.0:0.0	.	27	O00743-3	.	I	27	ENSP00000392147:S27I	ENSP00000392147:S27I	S	-	2	0	PPP6C	126991739	1.000000	0.71417	0.619000	0.29118	0.749000	0.42624	5.424000	0.66464	2.108000	0.64289	0.591000	0.81541	AGC		0.632	PPP6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054060.1	NM_016294		38	114	1	0	1.81118e-26	1	2.40267e-26	38	114				
HECTD4	283450	broad.mit.edu	37	12	112696345	112696345	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:112696345G>A	ENST00000430131.2	-	19	2932	c.1787C>T	c.(1786-1788)cCg>cTg	p.P596L	RP3-521E19.2_ENST00000547401.1_RNA|HECTD4_ENST00000377560.5_Missense_Mutation_p.P846L|HECTD4_ENST00000550722.1_Missense_Mutation_p.P882L			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	596					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)										TGCACCACACGGGGAACAGCC	0.498																																						ENST00000550722.1																			0											c.(2644-2646)cCg>cTg		HECT domain containing E3 ubiquitin protein ligase 4							138.0	128.0	131.0					12																	112696345		2203	4300	6503	SO:0001583	missense	283450							g.chr12:112696345G>A	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.1787C>T	12.37:g.112696345G>A	ENSP00000404379:p.Pro596Leu		Somatic				HECTD4_ENST00000430131.2_Missense_Mutation_p.P596L|HECTD4_ENST00000377560.5_Missense_Mutation_p.P846L|RP3-521E19.2_ENST00000547401.1_RNA	p.P882L	NM_001109662.3	NP_001103132.3	WXS	Illumina GAIIx	Phase_I					20	3040	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.2645C>T		.	.	.	.	.	.	.	.	.	.	G	19.92	3.915902	0.73098	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000547352	T;T;T	0.44083	0.93;0.93;0.93	5.31	5.31	0.75309	.	0.187547	0.47455	D	0.000230	T	0.27169	0.0666	N	0.14661	0.345	0.58432	D	0.999994	P;P;P	0.39920	0.695;0.569;0.695	B;B;B	0.29077	0.098;0.045;0.098	T	0.24261	-1.0165	10	0.87932	D	0	.	19.0167	0.92897	0.0:0.0:1.0:0.0	.	596;596;596	Q9Y4D8-2;Q9Y4D8;Q9Y4D8-3	.;K0614_HUMAN;.	L	846;596;882;90	ENSP00000366783:P846L;ENSP00000404379:P596L;ENSP00000449784:P882L	ENSP00000366783:P846L	P	-	2	0	C12orf51	111180728	1.000000	0.71417	0.988000	0.46212	0.979000	0.70002	4.539000	0.60657	2.484000	0.83849	0.655000	0.94253	CCG		0.498	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		4	462	0	0	0	1	0	4	462				
HYDIN	54768	broad.mit.edu	37	16	71103317	71103317	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:71103317G>A	ENST00000393567.2	-	14	1977	c.1827C>T	c.(1825-1827)ggC>ggT	p.G609G	HYDIN_ENST00000393550.2_Silent_p.G624G|HYDIN_ENST00000543639.1_5'UTR|HYDIN_ENST00000448691.1_Silent_p.G609G|HYDIN_ENST00000538248.1_Silent_p.G636G|HYDIN_ENST00000541601.1_Silent_p.G626G|HYDIN_ENST00000321489.5_Silent_p.G609G|HYDIN_ENST00000288168.10_Silent_p.G626G|HYDIN_ENST00000448089.2_Silent_p.G609G	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	609					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGCTTTTATGGCCAAGGCCAT	0.413																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(1825-1827)ggC>ggT		HYDIN, axonemal central pair apparatus protein							63.0	63.0	63.0					16																	71103317		2196	4297	6493	SO:0001819	synonymous_variant	54768							g.chr16:71103317G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.1827C>T	16.37:g.71103317G>A			Somatic				HYDIN_ENST00000543639.1_5'UTR|HYDIN_ENST00000393550.2_Silent_p.G624G|HYDIN_ENST00000321489.5_Silent_p.G609G|HYDIN_ENST00000448691.1_Silent_p.G609G|HYDIN_ENST00000288168.10_Silent_p.G626G|HYDIN_ENST00000541601.1_Silent_p.G626G|HYDIN_ENST00000448089.2_Silent_p.G609G|HYDIN_ENST00000538248.1_Silent_p.G636G	p.G609G	NM_001270974.1	NP_001257903.1	WXS	Illumina GAIIx	Phase_I	Q4G0P3	HYDIN_HUMAN			14	1977	-		Ovarian(137;0.0654)	609					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.1827C>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	1.850	-0.465238	0.04476	.	.	ENSG00000157423	ENST00000542890	.	.	.	4.98	1.56	0.23342	.	.	.	.	.	T	0.54581	0.1867	.	.	.	0.43863	D	0.99646	.	.	.	.	.	.	T	0.46162	-0.9211	4	.	.	.	.	7.1896	0.25818	0.0:0.3816:0.2948:0.3236	.	.	.	.	V	11	.	.	A	-	2	0	HYDIN	69660818	0.004000	0.15560	0.033000	0.17914	0.422000	0.31414	0.012000	0.13287	0.508000	0.28173	0.537000	0.68136	GCC		0.413	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			5	204	0	0	0	1	0	5	204				
ITIH3	3699	broad.mit.edu	37	3	52830849	52830849	+	Missense_Mutation	SNP	G	G	A	rs184879946		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:52830849G>A	ENST00000449956.2	+	4	382	c.376G>A	c.(376-378)Ggc>Agc	p.G126S	ITIH3_ENST00000416872.2_Missense_Mutation_p.G126S	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	126	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CAAGACGGCCGGCTTGGTCAA	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		21924	0.001		0.0	False		,,,				2504	0.0					ENST00000449956.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(376-378)Ggc>Agc		inter-alpha-trypsin inhibitor heavy chain 3		G	SER/GLY	0,3910		0,0,1955	48.0	48.0	48.0		376	4.9	0.1	3		48	1,8309		0,1,4154	no	missense	ITIH3	NM_002217.3	56	0,1,6109	AA,AG,GG		0.012,0.0,0.0082	probably-damaging	126/891	52830849	1,12219	1955	4155	6110	SO:0001583	missense	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52830849G>A		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.376G>A	3.37:g.52830849G>A	ENSP00000415769:p.Gly126Ser		Somatic				ITIH3_ENST00000416872.2_Missense_Mutation_p.G126S	p.G126S	NM_002217.3	NP_002208.3	WXS	Illumina GAIIx	Phase_I	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	4	382	+			126			VIT.		Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	c.376G>A	CCDS46845.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.46	3.395883	0.62177	0.0	1.2E-4	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.22539	1.95;1.95	4.88	4.88	0.63580	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.000000	0.85682	D	0.000000	T	0.42988	0.1227	M	0.64080	1.96	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.12553	-1.0543	10	0.38643	T	0.18	-22.3638	15.0538	0.71897	0.0:0.0:1.0:0.0	.	126;126	E7ET33;Q06033	.;ITIH3_HUMAN	S	126;126;121;126;126	ENSP00000413922:G126S;ENSP00000415769:G126S	ENSP00000273291:G121S	G	+	1	0	ITIH3	52805889	1.000000	0.71417	0.124000	0.21820	0.003000	0.03518	8.917000	0.92751	2.513000	0.84729	0.655000	0.94253	GGC		0.517	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		3	94	0	0	0	1	0	3	94				
KRT72	140807	broad.mit.edu	37	12	52979842	52979842	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:52979842C>A	ENST00000537672.2	-	9	1470	c.1460G>T	c.(1459-1461)aGc>aTc	p.S487I	KRT72_ENST00000293745.2_Missense_Mutation_p.S487I|KRT72_ENST00000398066.3_Missense_Mutation_p.S299I|KRT72_ENST00000354310.4_Missense_Mutation_p.S445I	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	487	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		ACTGCCACAGCTGCCTTTGGT	0.567																																						ENST00000293745.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36						c.(1459-1461)aGc>aTc		keratin 72							129.0	116.0	120.0					12																	52979842		2203	4300	6503	SO:0001583	missense	140807					keratin filament	structural molecule activity	g.chr12:52979842C>A	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1460G>T	12.37:g.52979842C>A	ENSP00000441160:p.Ser487Ile		Somatic				KRT72_ENST00000398066.3_Missense_Mutation_p.S299I|KRT72_ENST00000537672.2_Missense_Mutation_p.S487I|KRT72_ENST00000354310.4_Missense_Mutation_p.S445I	p.S487I	NM_080747.2	NP_542785.1	WXS	Illumina GAIIx	Phase_I	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	9	1545	-			487			Tail.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	c.1460G>T	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470575	0.43942	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310;ENST00000398066	D;D;D;T	0.83506	-1.61;-1.61;-1.73;-1.34	4.3	2.47	0.30058	.	0.247787	0.28521	N	0.015048	T	0.66645	0.2810	N	0.08118	0	0.26665	N	0.971837	P;B	0.37864	0.61;0.255	B;B	0.41988	0.372;0.157	T	0.58853	-0.7563	10	0.34782	T	0.22	.	6.7859	0.23673	0.0:0.7852:0.0:0.2148	.	445;487	B4DEI8;Q14CN4	.;K2C72_HUMAN	I	487;487;445;299	ENSP00000441160:S487I;ENSP00000293745:S487I;ENSP00000346269:S445I;ENSP00000446151:S299I	ENSP00000293745:S487I	S	-	2	0	KRT72	51266109	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.199000	0.32235	0.583000	0.29574	0.638000	0.83543	AGC		0.567	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		35	1134	1	0	3.01185e-09	1	3.68811e-09	35	1134				
PTENP1	11191	broad.mit.edu	37	9	33676633	33676633	+	RNA	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:33676633T>C	ENST00000532280.1	-	0	864					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		AACGATCTCTTTGATGATGGC	0.463																																						ENST00000532280.1																			0																																																			11191							g.chr9:33676633T>C	AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33676633T>C			Somatic						NR_023917.1		WXS	Illumina GAIIx	Phase_I					0	864	-									RNA	SNP	ENST00000532280.1	37																																																																																						0.463	PTENP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395145.1	NR_023917		3	137	0	0	0	1	0	3	137				
FBXL2	25827	broad.mit.edu	37	3	33406139	33406139	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:33406139C>T	ENST00000484457.1	+	5	309	c.218C>T	c.(217-219)tCg>tTg	p.S73L	FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000538892.1_Missense_Mutation_p.S73L|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000507198.1_Missense_Mutation_p.S73L	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2									p.S73L(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						GAAAATATCTCGAAGCGATGC	0.438																																						ENST00000484457.1																			1	Substitution - Missense(1)	p.S73L(1)	large_intestine(1)	endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						c.(217-219)tCg>tTg		F-box and leucine-rich repeat protein 2							201.0	187.0	192.0					3																	33406139		2203	4300	6503	SO:0001583	missense	25827				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity	g.chr3:33406139C>T	AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"""F-boxes / Leucine-rich repeats"""	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.218C>T	3.37:g.33406139C>T	ENSP00000417601:p.Ser73Leu		Somatic				FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000507198.1_Missense_Mutation_p.S73L|FBXL2_ENST00000538892.1_Missense_Mutation_p.S73L|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000283627.6_3'UTR	p.S73L	NM_012157.3	NP_036289.3	WXS	Illumina GAIIx	Phase_I	Q9UKC9	FBXL2_HUMAN			5	309	+			73						Missense_Mutation	SNP	ENST00000484457.1	37	c.218C>T	CCDS2658.1	.	.	.	.	.	.	.	.	.	.	C	36	5.678011	0.96764	.	.	ENSG00000153558	ENST00000484457;ENST00000538892;ENST00000507198	T;T;T	0.40225	1.04;2.31;2.31	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.48677	0.1513	L	0.46741	1.465	0.80722	D	1	D	0.67145	0.996	P	0.55667	0.781	T	0.30966	-0.9960	10	0.07990	T	0.79	.	18.8066	0.92040	0.0:1.0:0.0:0.0	.	73	Q9UKC9	FBXL2_HUMAN	L	73	ENSP00000417601:S73L;ENSP00000441228:S73L;ENSP00000426163:S73L	ENSP00000408895:S73L	S	+	2	0	FBXL2	33381143	1.000000	0.71417	0.968000	0.41197	0.988000	0.76386	7.397000	0.79903	2.621000	0.88768	0.650000	0.86243	TCG		0.438	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253245.2	NM_012157		7	322	0	0	0	1	0	7	322				
NAV1	89796	broad.mit.edu	37	1	201772738	201772738	+	Missense_Mutation	SNP	C	C	A	rs191072842		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:201772738C>A	ENST00000367296.4	+	16	3955	c.3535C>A	c.(3535-3537)Caa>Aaa	p.Q1179K	NAV1_ENST00000367302.1_Missense_Mutation_p.Q1135K|NAV1_ENST00000367297.4_Missense_Mutation_p.Q1171K|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.Q1179K|NAV1_ENST00000367295.1_Missense_Mutation_p.Q788K|NAV1_ENST00000367300.3_Missense_Mutation_p.Q1122K	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1179					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GATCAAGAGACAAAACTCCTC	0.443																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(3535-3537)Caa>Aaa		neuron navigator 1							99.0	84.0	89.0					1																	201772738		2203	4300	6503	SO:0001583	missense	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201772738C>A	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.3535C>A	1.37:g.201772738C>A	ENSP00000356265:p.Gln1179Lys		Somatic				NAV1_ENST00000295624.6_Missense_Mutation_p.Q1179K|NAV1_ENST00000367297.4_Missense_Mutation_p.Q1171K|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.Q788K|NAV1_ENST00000367302.1_Missense_Mutation_p.Q1135K|NAV1_ENST00000367300.3_Missense_Mutation_p.Q1122K	p.Q1179K	NM_020443.4	NP_065176.3	WXS	Illumina GAIIx	Phase_I	Q8NEY1	NAV1_HUMAN			16	3955	+			1179					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	c.3535C>A	CCDS1414.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	31|31|31	5.098918|5.098918|5.098918	0.94197|0.94197|0.94197	.|.|.	.|.|.	ENSG00000134369|ENSG00000134369|ENSG00000134369	ENST00000438083|ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295|ENST00000430015	.|D;D;D;D;D;D|.	.|0.93859|.	.|-3.3;-3.3;-3.3;-3.3;-3.3;-3.3|.	5.0|5.0|5.0	5.0|5.0|5.0	0.66597|0.66597|0.66597	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.77123|0.77123|0.77123	0.4084|0.4084|0.4084	M|M|M	0.77486|0.77486|0.77486	2.375|2.375|2.375	0.58432|0.58432|0.58432	D|D|D	0.999996|0.999996|0.999996	.|D;D;P;D|.	.|0.89917|.	.|0.998;1.0;0.934;0.998|.	.|D;D;D;D|.	.|0.80764|.	.|0.991;0.994;0.943;0.991|.	T|T|T	0.78107|0.78107|0.78107	-0.2333|-0.2333|-0.2333	5|10|5	.|0.87932|.	.|D|.	.|0|.	-23.7326|-23.7326|-23.7326	17.9614|17.9614|17.9614	0.89086|0.89086|0.89086	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|788;1179;704;1179|.	.|Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3|.	.|.;NAV1_HUMAN;.;.|.	E|K|K	161|1135;1179;1179;1171;1122;704;788|728	.|ENSP00000356271:Q1135K;ENSP00000356265:Q1179K;ENSP00000295624:Q1179K;ENSP00000356266:Q1171K;ENSP00000356269:Q1122K;ENSP00000356264:Q788K|.	.|ENSP00000295624:Q1179K|.	D|Q|T	+|+|+	3|1|2	2|0|0	NAV1|NAV1|NAV1	200039361|200039361|200039361	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	6.020000|6.020000|6.020000	0.70826|0.70826|0.70826	2.332000|2.332000|2.332000	0.79248|0.79248|0.79248	0.558000|0.558000|0.558000	0.71614|0.71614|0.71614	GAC|CAA|ACA		0.443	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		46	129	1	0	6.21074e-16	1	8.00465e-16	46	129				
NDUFA1	4694	broad.mit.edu	37	X	119005930	119005930	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:119005930C>T	ENST00000371437.4	+	1	481	c.56C>T	c.(55-57)cCa>cTa	p.P19L	RNF113A_ENST00000371442.2_5'Flank	NM_004541.3	NP_004532.1	O15239	NDUA1_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa	19					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(1)|large_intestine(2)|stomach(1)	5						TTGTTGATTCCAGGACTGGCT	0.587																																						ENST00000371437.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|stomach(1)	5						c.(55-57)cCa>cTa		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa	NADH(DB00157)						167.0	138.0	148.0					X																	119005930		2203	4300	6503	SO:0001583	missense	4694				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrX:119005930C>T		CCDS14590.1	Xq24	2011-07-04	2002-08-29		ENSG00000125356	ENSG00000125356		"""Mitochondrial respiratory chain complex / Complex I"""	7683	protein-coding gene	gene with protein product	"""NADH:ubiquinone oxidoreductase (complex 1)"", ""type I dehydrogenase"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)"", ""complex I MWFE subunit"""	300078	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)"""			8938439	Standard	NM_004541		Approved	MWFE, CI-MWFE	uc004esc.4	O15239	OTTHUMG00000022287	ENST00000371437.4:c.56C>T	X.37:g.119005930C>T	ENSP00000360492:p.Pro19Leu		Somatic					p.P19L	NM_004541.3	NP_004532.1	WXS	Illumina GAIIx	Phase_I	O15239	NDUA1_HUMAN			1	481	+			19						Missense_Mutation	SNP	ENST00000371437.4	37	c.56C>T	CCDS14590.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.108467	0.56291	.	.	ENSG00000125356	ENST00000371437	T	0.80738	-1.41	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.89550	0.6747	.	.	.	0.58432	D	0.999993	D	0.89917	1.0	D	0.87578	0.998	D	0.90785	0.4682	9	0.87932	D	0	-16.7957	13.8682	0.63600	0.0:1.0:0.0:0.0	.	19	O15239	NDUA1_HUMAN	L	19	ENSP00000360492:P19L	ENSP00000360492:P19L	P	+	2	0	NDUFA1	118889958	0.991000	0.36638	0.227000	0.23927	0.008000	0.06430	5.083000	0.64456	2.346000	0.79739	0.600000	0.82982	CCA		0.587	NDUFA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058080.1	NM_004541		4	119	0	0	0	1	0	4	119				
PLA2G4F	255189	broad.mit.edu	37	15	42437859	42437859	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:42437859G>C	ENST00000382396.4	-	16	1780	c.1694C>G	c.(1693-1695)gCc>gGc	p.A565G	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.A567G			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	565	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CAGGCTGGTGGCAAAGGCGCT	0.647																																						ENST00000397272.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1699-1701)gCc>gGc		phospholipase A2, group IVF							72.0	76.0	75.0					15																	42437859		2203	4299	6502	SO:0001583	missense	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42437859G>C		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1694C>G	15.37:g.42437859G>C	ENSP00000371833:p.Ala565Gly		Somatic				PLA2G4F_ENST00000382396.4_Missense_Mutation_p.A565G	p.A567G	NM_213600.3	NP_998765.3	WXS	Illumina GAIIx	Phase_I	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	16	1791	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	565			PLA2c.		Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	c.1700C>G	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.416579	0.62511	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000443825	T;T	0.12672	2.66;2.66	5.0	5.0	0.66597	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.000000	0.51477	D	0.000091	T	0.33206	0.0855	L	0.48642	1.525	0.48696	D	0.999699	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.03335	-1.1047	10	0.72032	D	0.01	-14.3824	18.6782	0.91537	0.0:0.0:1.0:0.0	.	352;565	A2RRC4;Q68DD2	.;PA24F_HUMAN	G	561;567;565;565	ENSP00000380442:A567G;ENSP00000371833:A565G	ENSP00000290497:A561G	A	-	2	0	PLA2G4F	40225151	1.000000	0.71417	0.977000	0.42913	0.045000	0.14185	7.263000	0.78421	2.499000	0.84300	0.484000	0.47621	GCC		0.647	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		4	39	0	0	0	1	0	4	39				
ITIH5	80760	broad.mit.edu	37	10	7682737	7682737	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:7682737A>T	ENST00000256861.6	-	4	459	c.381T>A	c.(379-381)aaT>aaA	p.N127K	ITIH5_ENST00000397146.2_Missense_Mutation_p.N127K|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.N127K	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	127	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTGTGGTTTTATTCCTTTTCT	0.373																																						ENST00000256861.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(379-381)aaT>aaA		inter-alpha-trypsin inhibitor heavy chain family, member 5							267.0	255.0	259.0					10																	7682737		2202	4300	6502	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7682737A>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.381T>A	10.37:g.7682737A>T	ENSP00000256861:p.Asn127Lys		Somatic				ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.N127K|ITIH5_ENST00000397145.2_Missense_Mutation_p.N127K	p.N127K	NM_030569.6	NP_085046.5	WXS	Illumina GAIIx	Phase_I	Q86UX2	ITIH5_HUMAN			4	459	-			127			VIT.		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	A	10.91	1.483758	0.26598	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	T;T;T	0.23552	1.9;1.9;1.9	5.71	3.19	0.36642	Vault protein inter-alpha-trypsin (2);	1.935990	0.02438	N	0.084262	T	0.34193	0.0889	.	.	.	0.30250	N	0.794205	B;D	0.55172	0.106;0.97	B;P	0.53593	0.018;0.73	T	0.05257	-1.0896	9	0.34782	T	0.22	-32.0795	4.1145	0.10074	0.6074:0.1727:0.2199:0.0	.	127;127	G5E9D8;Q86UX2	.;ITIH5_HUMAN	K	127	ENSP00000256861:N127K;ENSP00000380333:N127K;ENSP00000380332:N127K	ENSP00000256861:N127K	N	-	3	2	ITIH5	7722743	1.000000	0.71417	0.997000	0.53966	0.942000	0.58702	0.694000	0.25512	0.344000	0.23847	0.460000	0.39030	AAT		0.373	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		6	310	0	0	0	1	0	6	310				
ANGPT1	284	broad.mit.edu	37	8	108276471	108276471	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:108276471T>C	ENST00000520734.1	-	7	999	c.714A>G	c.(712-714)aaA>aaG	p.K238K	ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Silent_p.K237K			Q15389	ANGP1_HUMAN	angiopoietin 1	438					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TGAGGGCACATTTGCACATAC	0.433																																						ENST00000520734.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43						c.(712-714)aaA>aaG		angiopoietin 1							134.0	113.0	120.0					8																	108276471		2203	4300	6503	SO:0001819	synonymous_variant	284				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	g.chr8:108276471T>C	D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"""Fibrinogen C domain containing"""	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.714A>G	8.37:g.108276471T>C			Somatic				ANGPT1_ENST00000520052.1_Silent_p.K237K|ANGPT1_ENST00000518386.1_5'UTR	p.K238K			WXS	Illumina GAIIx	Phase_I	Q15389	ANGP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		7	999	-	Breast(1;5.06e-08)		438					Q5HYA0	Silent	SNP	ENST00000520734.1	37	c.714A>G																																																																																					0.433	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		10	75	0	0	0	1	0	10	75				
MAGEC3	139081	broad.mit.edu	37	X	140985617	140985617	+	Nonstop_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:140985617G>T	ENST00000298296.1	+	8	1931	c.1931G>T	c.(1930-1932)tGa>tTa	p.*644L	MAGEC3_ENST00000544766.1_3'UTR|MAGEC3_ENST00000443323.2_3'UTR|MAGEC3_ENST00000409007.1_3'UTR|MAGEC3_ENST00000536088.1_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	0										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TGTCCTGAGTGATGTCTGAAG	0.537																																						ENST00000298296.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(1930-1932)tGa>tTa		melanoma antigen family C, 3							50.0	43.0	45.0					X																	140985617		2201	4295	6496	SO:0001578	stop_lost	139081							g.chrX:140985617G>T	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1931G>T	X.37:g.140985617G>T	ENSP00000298296:p.*644Leuext*?		Somatic				MAGEC3_ENST00000544766.1_3'UTR|MAGEC3_ENST00000536088.1_3'UTR|MAGEC3_ENST00000443323.2_3'UTR|MAGEC3_ENST00000409007.1_3'UTR	p.*644L	NM_138702.1	NP_619647.1	WXS	Illumina GAIIx	Phase_I	Q8TD91	MAGC3_HUMAN			8	1931	+	Acute lymphoblastic leukemia(192;6.56e-05)		0					Q3SYA7|Q5JZ43|Q9BZ80	Nonstop_Mutation	SNP	ENST00000298296.1	37	c.1931G>T	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	g	4.786	0.146060	0.09134	.	.	ENSG00000165509	ENST00000298296	.	.	.	1.03	-0.171	0.13331	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.3442	0.11124	0.0:0.4308:0.5692:0.0	.	.	.	.	L	644	.	.	X	+	2	2	MAGEC3	140813283	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.206000	0.09398	-0.101000	0.12219	0.284000	0.19432	TGA		0.537	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		5	435	1	0	1.23904e-05	1	1.42538e-05	5	435				
NOTCH2	4853	broad.mit.edu	37	1	120466571	120466571	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:120466571G>T	ENST00000256646.2	-	26	4767	c.4548C>A	c.(4546-4548)aaC>aaA	p.N1516K	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1516	Negative regulatory region (NRR).				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTCACAGTGGTTGTCTTTGA	0.502			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(4546-4548)aaC>aaA		notch 2							91.0	74.0	79.0					1																	120466571		2203	4300	6503	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120466571G>T	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.4548C>A	1.37:g.120466571G>T	ENSP00000256646:p.Asn1516Lys		Somatic					p.N1516K	NM_024408.3	NP_077719.2	WXS	Illumina GAIIx	Phase_I	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	26	4767	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1516			Negative regulatory region (NRR).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.4548C>A	CCDS908.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561485	0.45590	.	.	ENSG00000134250	ENST00000256646	D	0.89746	-2.56	6.08	5.16	0.70880	Notch domain (4);	0.000000	0.41194	U	0.000938	T	0.65396	0.2687	N	0.12182	0.205	0.31007	N	0.719694	B	0.10296	0.003	B	0.13407	0.009	T	0.60146	-0.7320	10	0.54805	T	0.06	.	8.1177	0.30953	0.1403:0.1309:0.7289:0.0	.	1516	Q04721	NOTC2_HUMAN	K	1516	ENSP00000256646:N1516K	ENSP00000256646:N1516K	N	-	3	2	NOTCH2	120268094	0.984000	0.35163	1.000000	0.80357	0.999000	0.98932	0.099000	0.15210	1.558000	0.49541	0.655000	0.94253	AAC		0.502	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		13	69	1	0	7.93312e-07	1	9.38275e-07	13	69				
PHC1	1911	broad.mit.edu	37	12	9086983	9086983	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:9086983A>G	ENST00000543824.1	+	11	2494	c.2162A>G	c.(2161-2163)gAc>gGc	p.D721G	PHC1_ENST00000433083.2_Missense_Mutation_p.D676G|PHC1_ENST00000536844.1_Missense_Mutation_p.D327G|PHC1_ENST00000544916.1_Missense_Mutation_p.D721G			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	721					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CAAATGGGTGACTCAAAACCC	0.522																																						ENST00000433083.2																			0				breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(2026-2028)gAc>gGc		polyhomeotic homolog 1 (Drosophila)							69.0	68.0	68.0					12																	9086983		2202	4280	6482	SO:0001583	missense	1911				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr12:9086983A>G	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.2162A>G	12.37:g.9086983A>G	ENSP00000440674:p.Asp721Gly		Somatic				PHC1_ENST00000536844.1_Missense_Mutation_p.D327G|PHC1_ENST00000543824.1_Missense_Mutation_p.D721G|PHC1_ENST00000544916.1_Missense_Mutation_p.D721G	p.D676G			WXS	Illumina GAIIx	Phase_I	P78364	PHC1_HUMAN			9	2172	+			721					D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	ENST00000543824.1	37	c.2027A>G	CCDS8597.1	.	.	.	.	.	.	.	.	.	.	A	9.978	1.227375	0.22542	.	.	ENSG00000111752	ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000536844	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.49643	0.1569	L	0.46157	1.445	0.51767	D	0.999939	B	0.22080	0.064	B	0.20184	0.028	T	0.47711	-0.9096	10	0.87932	D	0	-28.6761	16.0051	0.80357	1.0:0.0:0.0:0.0	.	721	P78364	PHC1_HUMAN	G	721;721;676;721;327	ENSP00000440674:D721G;ENSP00000251757:D721G;ENSP00000399194:D676G;ENSP00000437659:D721G;ENSP00000440488:D327G	ENSP00000251757:D721G	D	+	2	0	PHC1	8978250	1.000000	0.71417	0.995000	0.50966	0.028000	0.11728	6.362000	0.73077	2.269000	0.75478	0.533000	0.62120	GAC		0.522	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		4	118	0	0	0	1	0	4	118				
GPR126	57211	broad.mit.edu	37	6	142737090	142737090	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:142737090G>C	ENST00000230173.6	+	20	3303	c.2827G>C	c.(2827-2829)Gca>Cca	p.A943P	GPR126_ENST00000367609.3_Missense_Mutation_p.A943P|GPR126_ENST00000367608.2_Missense_Mutation_p.A915P|GPR126_ENST00000296932.8_Missense_Mutation_p.A915P	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	943					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CTTCCTTCTGGCAACCTTTAC	0.428																																						ENST00000230173.6																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(2827-2829)Gca>Cca		G protein-coupled receptor 126							210.0	199.0	203.0					6																	142737090		1951	4156	6107	SO:0001583	missense	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142737090G>C	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.2827G>C	6.37:g.142737090G>C	ENSP00000230173:p.Ala943Pro		Somatic				GPR126_ENST00000296932.8_Missense_Mutation_p.A915P|GPR126_ENST00000367609.3_Missense_Mutation_p.A943P|GPR126_ENST00000367608.2_Missense_Mutation_p.A915P	p.A943P	NM_020455.5	NP_065188.4	WXS	Illumina GAIIx	Phase_I	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	20	3303	+	Breast(32;0.176)		943					Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	c.2827G>C	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.549330	0.65311	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.4	5.4	0.78164	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000003	T	0.69593	0.3128	M	0.91406	3.205	0.52099	D	0.99994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.992;0.992;0.992;0.996	T	0.76350	-0.2991	10	0.72032	D	0.01	.	19.5245	0.95199	0.0:0.0:1.0:0.0	.	915;943;915;943	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	P	943;915;915;943	ENSP00000230173:A943P;ENSP00000356580:A915P;ENSP00000296932:A915P;ENSP00000356581:A943P	ENSP00000230173:A943P	A	+	1	0	GPR126	142778783	1.000000	0.71417	0.268000	0.24571	0.577000	0.36160	4.030000	0.57260	2.694000	0.91930	0.650000	0.86243	GCA		0.428	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			8	140	0	0	0	1	0	8	140				
STRIP2	57464	broad.mit.edu	37	7	129096278	129096278	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:129096278A>T	ENST00000249344.2	+	9	874		c.e9-1		STRIP2_ENST00000435494.2_Splice_Site	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2						cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											TTTCTTCCTTAGTTTACCCTC	0.517																																						ENST00000249344.2																			0											c.e9-1		striatin interacting protein 2							54.0	57.0	56.0					7																	129096278		2203	4300	6503	SO:0001630	splice_region_variant	57464							g.chr7:129096278A>T	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.835-1A>T	7.37:g.129096278A>T			Somatic				STRIP2_ENST00000435494.2_Splice_Site		NM_020704.2	NP_065755.1	WXS	Illumina GAIIx	Phase_I					9	874	+								Q8WUZ4	Splice_Site	SNP	ENST00000249344.2	37		CCDS34752.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.597735	0.87055	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9834	0.71327	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM40B	128883514	1.000000	0.71417	0.949000	0.38748	0.924000	0.55760	8.875000	0.92372	2.226000	0.72624	0.459000	0.35465	.		0.517	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336	Intron	6	154	0	0	0	1	0	6	154				
TAF4B	6875	broad.mit.edu	37	18	23937652	23937652	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:23937652A>T	ENST00000269142.5	+	14	3314		c.e14-1		TAF4B_ENST00000578121.1_Splice_Site	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa						gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TCCGTCTTCTAGTTACAGCAA	0.383																																						ENST00000269142.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29						c.e14-1		TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa							87.0	75.0	79.0					18																	23937652		1841	4088	5929	SO:0001630	splice_region_variant	6875				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity	g.chr18:23937652A>T	Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.2317-1A>T	18.37:g.23937652A>T			Somatic				TAF4B_ENST00000578121.1_Splice_Site		NM_005640.1	NP_005631.1	WXS	Illumina GAIIx	Phase_I	Q92750	TAF4B_HUMAN	Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)		14	3314	+	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)							Q29YA4|Q29YA5	Splice_Site	SNP	ENST00000269142.5	37		CCDS42421.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.020462	0.54576	.	.	ENSG00000141384	ENST00000418698;ENST00000269142	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4681	0.61268	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TAF4B	22191650	1.000000	0.71417	0.999000	0.59377	0.677000	0.39632	4.889000	0.63171	1.905000	0.55150	0.523000	0.50628	.		0.383	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640	Intron	5	66	0	0	0	1	0	5	66				
ACACA	31	broad.mit.edu	37	17	35591991	35591991	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:35591991C>T	ENST00000394406.2	-	25	3224	c.3034G>A	c.(3034-3036)Gcc>Acc	p.A1012T	ACACA_ENST00000353139.5_Missense_Mutation_p.A1049T|ACACA_ENST00000360679.3_Missense_Mutation_p.A954T|ACACA_ENST00000335166.5_Missense_Mutation_p.A934T	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1012					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.A954T(1)|p.A1049T(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCTCGGAGGGCGAATACACAT	0.393																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			2	Substitution - Missense(2)	p.A954T(1)|p.A1049T(1)	large_intestine(2)	NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(3145-3147)Gcc>Acc		acetyl-CoA carboxylase alpha	Biotin(DB00121)						188.0	155.0	166.0					17																	35591991		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35591991C>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.3034G>A	17.37:g.35591991C>T	ENSP00000377928:p.Ala1012Thr		Somatic				ACACA_ENST00000394406.2_Missense_Mutation_p.A1012T|ACACA_ENST00000360679.3_Missense_Mutation_p.A954T|ACACA_ENST00000335166.5_Missense_Mutation_p.A934T	p.A1049T	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	WXS	Illumina GAIIx	Phase_I	Q13085	ACACA_HUMAN			25	3626	-		Breast(25;0.00157)|Ovarian(249;0.15)	1012					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.3145G>A	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.722596	0.48728	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.66	4.7	0.59300	Acetyl-CoA carboxylase, central domain (1);	0.052148	0.85682	D	0.000000	T	0.40297	0.1111	M	0.72118	2.19	0.80722	D	1	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.10450	0.005;0.005;0.003	T	0.25641	-1.0126	10	0.14656	T	0.56	-1.1597	11.7977	0.52110	0.0:0.8544:0.0:0.1456	.	1049;1012;954	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	T	1049;954;1012;1036;934	ENSP00000344789:A1049T;ENSP00000353898:A954T;ENSP00000377928:A1012T;ENSP00000335323:A934T	ENSP00000335323:A934T	A	-	1	0	ACACA	32666104	0.613000	0.27009	0.783000	0.31826	0.978000	0.69477	1.273000	0.33121	1.421000	0.47157	0.655000	0.94253	GCC		0.393	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		6	707	0	0	0	1	0	6	707				
MADD	8567	broad.mit.edu	37	11	47336769	47336769	+	Splice_Site	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:47336769A>G	ENST00000311027.5	+	30	4434		c.e30-1		MADD_ENST00000395336.3_Splice_Site|MADD_ENST00000395344.3_Splice_Site|MADD_ENST00000402799.1_Splice_Site|MADD_ENST00000342922.4_Splice_Site|MADD_ENST00000405573.2_Splice_Site|MADD_ENST00000406482.1_Splice_Site|MADD_ENST00000402192.2_Splice_Site|MADD_ENST00000407859.3_Splice_Site|MADD_ENST00000349238.3_Splice_Site	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CTCTTTCATCAGAATGGACGC	0.473																																						ENST00000342922.4																			0				breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.e27-1		MAP-kinase activating death domain							92.0	86.0	88.0					11																	47336769		2201	4298	6499	SO:0001630	splice_region_variant	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47336769A>G	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.4270-1A>G	11.37:g.47336769A>G			Somatic				MADD_ENST00000405573.2_Splice_Site|MADD_ENST00000407859.3_Splice_Site|MADD_ENST00000406482.1_Splice_Site|MADD_ENST00000402799.1_Splice_Site|MADD_ENST00000402192.2_Splice_Site|MADD_ENST00000395336.3_Splice_Site|MADD_ENST00000395344.3_Splice_Site|MADD_ENST00000349238.3_Splice_Site|MADD_ENST00000311027.5_Splice_Site		NM_130470.2	NP_569826.2	WXS	Illumina GAIIx	Phase_I	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	27	4449	+									Splice_Site	SNP	ENST00000311027.5	37		CCDS7930.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.633806	0.87660	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192;ENST00000405573	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2338	0.73413	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MADD	47293345	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.871000	0.92346	1.985000	0.57927	0.460000	0.39030	.		0.473	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1		Intron	3	55	0	0	0	1	0	3	55				
ABCG8	64241	broad.mit.edu	37	2	44101009	44101009	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:44101009G>A	ENST00000272286.2	+	9	1385	c.1295G>A	c.(1294-1296)gGc>gAc	p.G432D		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	432	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	ATGACCATCGGCTTCCTCTAT	0.522																																						ENST00000272286.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(1294-1296)gGc>gAc		ATP-binding cassette, sub-family G (WHITE), member 8							235.0	229.0	231.0					2																	44101009		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44101009G>A	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1295G>A	2.37:g.44101009G>A	ENSP00000272286:p.Gly432Asp		Somatic					p.G432D	NM_022437.2	NP_071882.1	WXS	Illumina GAIIx	Phase_I	Q9H221	ABCG8_HUMAN			9	1385	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	432			ABC transmembrane type-2.		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.1295G>A	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385858	0.61956	.	.	ENSG00000143921	ENST00000272286	T	0.79940	-1.32	5.4	5.4	0.78164	ABC-2 type transporter (1);	0.045950	0.85682	D	0.000000	D	0.90212	0.6940	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91119	0.4928	10	0.87932	D	0	.	19.1934	0.93677	0.0:0.0:1.0:0.0	.	431;432	Q9H221-2;Q9H221	.;ABCG8_HUMAN	D	432	ENSP00000272286:G432D	ENSP00000272286:G432D	G	+	2	0	ABCG8	43954513	1.000000	0.71417	0.524000	0.27887	0.012000	0.07955	9.092000	0.94157	2.536000	0.85505	0.561000	0.74099	GGC		0.522	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		6	770	0	0	0	1	0	6	770				
DCAF4	26094	broad.mit.edu	37	14	73422349	73422349	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:73422349C>A	ENST00000358377.2	+	12	1344	c.1124C>A	c.(1123-1125)tCt>tAt	p.S375Y	DCAF4_ENST00000394234.2_Missense_Mutation_p.S275Y|DCAF4_ENST00000553457.1_Missense_Mutation_p.S275Y|DCAF4_ENST00000555042.1_Missense_Mutation_p.S369Y|DCAF4_ENST00000353777.3_Missense_Mutation_p.S205Y|DCAF4_ENST00000509153.1_Missense_Mutation_p.S315Y	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	375					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						GCAGTGACCTCTGTGCGGATC	0.547																																						ENST00000553457.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						c.(823-825)tCt>tAt		DDB1 and CUL4 associated factor 4							216.0	200.0	206.0					14																	73422349		2203	4300	6503	SO:0001583	missense	26094					CUL4 RING ubiquitin ligase complex		g.chr14:73422349C>A	BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20229	protein-coding gene	gene with protein product			"""WD repeat domain 21"", ""WD repeat domain 21A"""	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.1124C>A	14.37:g.73422349C>A	ENSP00000351147:p.Ser375Tyr		Somatic				DCAF4_ENST00000509153.1_Missense_Mutation_p.S315Y|DCAF4_ENST00000353777.3_Missense_Mutation_p.S205Y|DCAF4_ENST00000394234.2_Missense_Mutation_p.S275Y|DCAF4_ENST00000358377.2_Missense_Mutation_p.S375Y|DCAF4_ENST00000555042.1_Missense_Mutation_p.S369Y	p.S275Y			WXS	Illumina GAIIx	Phase_I	Q8WV16	DCAF4_HUMAN			11	1114	+			375					B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Missense_Mutation	SNP	ENST00000358377.2	37	c.824C>A	CCDS9809.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573085	0.86542	.	.	ENSG00000119599	ENST00000358377;ENST00000353777;ENST00000394234;ENST00000509153;ENST00000555042;ENST00000553457	T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.049097	0.85682	D	0.000000	T	0.80747	0.4682	M	0.77616	2.38	0.58432	D	0.999996	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.87578	0.997;0.998;0.996;0.996;0.987;0.997	T	0.80320	-0.1432	10	0.48119	T	0.1	.	19.7201	0.96139	0.0:1.0:0.0:0.0	.	315;354;375;369;205;375	B4DUT6;B4DN30;Q8WV16-2;G3V522;Q86SY2;Q8WV16	.;.;.;.;.;DCAF4_HUMAN	Y	375;205;275;315;369;275	ENSP00000351147:S375Y;ENSP00000345176:S205Y;ENSP00000377781:S275Y;ENSP00000426178:S315Y;ENSP00000452131:S369Y;ENSP00000451186:S275Y	ENSP00000345176:S205Y	S	+	2	0	DCAF4	72492102	1.000000	0.71417	0.972000	0.41901	0.874000	0.50279	7.487000	0.81328	2.661000	0.90470	0.561000	0.74099	TCT		0.547	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361058.1	NM_015604		15	402	1	0	8.00594e-06	1	9.31917e-06	15	402				
LRBA	987	broad.mit.edu	37	4	151935680	151935680	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:151935680G>A	ENST00000357115.3	-	2	358	c.115C>T	c.(115-117)Ctc>Ttc	p.L39F	LRBA_ENST00000507224.1_Missense_Mutation_p.L39F|LRBA_ENST00000535741.1_Missense_Mutation_p.L39F|LRBA_ENST00000510413.1_Missense_Mutation_p.L39F	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	39						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTGATGGGGAGCCCTGGTTTC	0.512																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(115-117)Ctc>Ttc		LPS-responsive vesicle trafficking, beach and anchor containing							62.0	55.0	58.0					4																	151935680		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151935680G>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.115C>T	4.37:g.151935680G>A	ENSP00000349629:p.Leu39Phe		Somatic				LRBA_ENST00000510413.1_Missense_Mutation_p.L39F|LRBA_ENST00000507224.1_Missense_Mutation_p.L39F|LRBA_ENST00000357115.3_Missense_Mutation_p.L39F	p.L39F			WXS	Illumina GAIIx	Phase_I	P50851	LRBA_HUMAN			2	588	-	all_hematologic(180;0.151)		39					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.115C>T	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164841	0.57476	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.58797	0.73;0.88;0.73;0.31	5.24	3.35	0.38373	.	0.960683	0.08572	N	0.925876	T	0.40247	0.1109	N	0.22421	0.69	0.30715	N	0.748835	P;B;P	0.39717	0.684;0.343;0.573	B;B;B	0.33799	0.145;0.17;0.153	T	0.44667	-0.9313	10	0.72032	D	0.01	.	6.493	0.22125	0.0:0.2682:0.5261:0.2056	.	39;39;39	P50851;Q6P1X2;P50851-2	LRBA_HUMAN;.;.	F	39	ENSP00000446299:L39F;ENSP00000421552:L39F;ENSP00000349629:L39F;ENSP00000422180:L39F	ENSP00000349629:L39F	L	-	1	0	LRBA	152155130	0.991000	0.36638	0.802000	0.32245	0.965000	0.64279	1.242000	0.32755	1.153000	0.42468	0.555000	0.69702	CTC		0.512	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			55	13	0	0	0	1	0	55	13				
CACNA1D	776	broad.mit.edu	37	3	53783446	53783446	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:53783446C>T	ENST00000350061.5	+	27	3977	c.3466C>T	c.(3466-3468)Cag>Tag	p.Q1156*	CACNA1D_ENST00000288139.4_Nonsense_Mutation_p.Q1176*|CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.Q1156*|CACNA1D_ENST00000540742.1_Nonsense_Mutation_p.Q63*	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1156	Dihydropyridine binding. {ECO:0000250}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGTTACATTTCAGGAACAAGG	0.428																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(3526-3528)Cag>Tag		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						126.0	114.0	118.0					3																	53783446		2203	4300	6503	SO:0001587	stop_gained	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53783446C>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.3466C>T	3.37:g.53783446C>T	ENSP00000288133:p.Gln1156*		Somatic				CACNA1D_ENST00000350061.5_Nonsense_Mutation_p.Q1156*|CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.Q1156*|CACNA1D_ENST00000540742.1_Nonsense_Mutation_p.Q63*	p.Q1176*	NM_000720.2	NP_000711.1	WXS	Illumina GAIIx	Phase_I	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	28	3644	+			1156					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Nonsense_Mutation	SNP	ENST00000350061.5	37	c.3526C>T	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	45	11.758680	0.99599	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.3421	0.94347	0.0:1.0:0.0:0.0	.	.	.	.	X	1156;1176;1156;849;63	.	ENSP00000288139:Q1176X	Q	+	1	0	CACNA1D	53758486	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.826000	0.97356	0.655000	0.94253	CAG		0.428	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		5	97	0	0	0	1	0	5	97				
SEZ6	124925	broad.mit.edu	37	17	27287824	27287824	+	Splice_Site	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:27287824T>C	ENST00000317338.12	-	6	1836	c.1408A>G	c.(1408-1410)Agg>Ggg	p.R470G	SEZ6_ENST00000360295.9_Splice_Site_p.R470G|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Splice_Site_p.R470G|SEZ6_ENST00000335960.6_Splice_Site_p.R470G			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	470	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GCCCCTCACCTGTCATCATCC	0.607																																						ENST00000317338.12																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29						c.e6+1		seizure related 6 homolog (mouse)							75.0	82.0	80.0					17																	27287824		2073	4212	6285	SO:0001630	splice_region_variant	124925					integral to membrane|plasma membrane		g.chr17:27287824T>C	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.1409+1A>G	17.37:g.27287824T>C			Somatic				SEZ6_ENST00000442608.3_Splice_Site_p.R470_splice|SEZ6_ENST00000360295.9_Splice_Site_p.R470_splice|SEZ6_ENST00000335960.6_Splice_Site_p.R470_splice|PIPOX_ENST00000583215.1_Intron	p.R470_splice			WXS	Illumina GAIIx	Phase_I	Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		6	1836	-	Lung NSC(42;0.0137)		470			CUB 1.		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Splice_Site	SNP	ENST00000317338.12	37	c.1409_splice	CCDS45639.1	.	.	.	.	.	.	.	.	.	.	T	19.74	3.884024	0.72410	.	.	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000335960;ENST00000541381	T;T;T	0.28895	1.59;1.59;1.59	4.53	4.53	0.55603	CUB (5);	0.000000	0.85682	D	0.000000	T	0.49609	0.1567	L	0.58354	1.805	0.58432	D	0.999993	D;P	0.69078	0.997;0.844	D;P	0.79784	0.993;0.705	T	0.51537	-0.8693	10	0.72032	D	0.01	.	12.1311	0.53944	0.0:0.0:0.0:1.0	.	470;470	Q53EL9-3;Q53EL9	.;SEZ6_HUMAN	G	470;470;345;470;470	ENSP00000403784:R470G;ENSP00000353440:R470G;ENSP00000337407:R470G	ENSP00000312942:R345G	R	-	1	2	SEZ6	24311950	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.608000	0.24223	2.039000	0.60335	0.260000	0.18958	AGG		0.607	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3		Missense_Mutation	4	534	0	0	0	1	0	4	534				
PSTPIP2	9050	broad.mit.edu	37	18	43591160	43591160	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:43591160A>T	ENST00000409746.5	-	5	412	c.341T>A	c.(340-342)cTa>cAa	p.L114Q	PSTPIP2_ENST00000588801.1_5'UTR|PSTPIP2_ENST00000589328.1_Missense_Mutation_p.L114Q	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	114						cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						TTTTCGTTGTAGTTTTTGCTT	0.413																																						ENST00000409746.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						c.(340-342)cTa>cAa		proline-serine-threonine phosphatase interacting protein 2							300.0	252.0	268.0					18																	43591160		2203	4300	6503	SO:0001583	missense	9050					membrane		g.chr18:43591160A>T		CCDS32820.2	18q12	2008-07-28			ENSG00000152229	ENSG00000152229			9581	protein-coding gene	gene with protein product						9804817	Standard	NM_024430		Approved		uc002lbp.4	Q9H939	OTTHUMG00000152674	ENST00000409746.5:c.341T>A	18.37:g.43591160A>T	ENSP00000387261:p.Leu114Gln		Somatic				PSTPIP2_ENST00000589328.1_Missense_Mutation_p.L114Q|PSTPIP2_ENST00000588801.1_5'UTR	p.L114Q	NM_024430.3	NP_077748.3	WXS	Illumina GAIIx	Phase_I	Q9H939	PPIP2_HUMAN			5	412	-			114						Missense_Mutation	SNP	ENST00000409746.5	37	c.341T>A	CCDS32820.2	.	.	.	.	.	.	.	.	.	.	A	10.08	1.253177	0.22965	.	.	ENSG00000152229	ENST00000409746;ENST00000360076	T	0.38401	1.14	5.13	1.36	0.22044	.	0.452533	0.23409	N	0.048482	T	0.17408	0.0418	L	0.31804	0.96	0.25875	N	0.983663	B;B	0.34290	0.447;0.033	B;B	0.26202	0.067;0.008	T	0.14476	-1.0471	10	0.19590	T	0.45	-12.8578	4.0432	0.09761	0.6064:0.0:0.124:0.2696	.	114;114	Q9H939-2;Q9H939	.;PPIP2_HUMAN	Q	114	ENSP00000387261:L114Q	ENSP00000353189:L114Q	L	-	2	0	PSTPIP2	41845158	0.958000	0.32768	0.988000	0.46212	0.963000	0.63663	0.900000	0.28431	-0.002000	0.14469	0.379000	0.24179	CTA		0.413	PSTPIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327522.1			8	550	0	0	0	1	0	8	550				
CCNA1	8900	broad.mit.edu	37	13	37015253	37015253	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr13:37015253A>T	ENST00000255465.4	+	7	1362		c.e7-1		CCNA1_ENST00000449823.1_Splice_Site|CCNA1_ENST00000418263.1_Splice_Site|CCNA1_ENST00000440264.1_Splice_Site			P78396	CCNA1_HUMAN	cyclin A1						G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TCTTGTGCTTAGTACGTAGCA	0.393																																						ENST00000418263.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35						c.e7-1		cyclin A1							126.0	105.0	112.0					13																	37015253		2203	4300	6503	SO:0001630	splice_region_variant	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37015253A>T	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.1099-1A>T	13.37:g.37015253A>T			Somatic				CCNA1_ENST00000255465.4_Splice_Site|CCNA1_ENST00000440264.1_Splice_Site|CCNA1_ENST00000449823.1_Splice_Site		NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	WXS	Illumina GAIIx	Phase_I	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	7	1445	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)						B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Splice_Site	SNP	ENST00000255465.4	37		CCDS9357.1	.	.	.	.	.	.	.	.	.	.	A	19.75	3.886322	0.72410	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3319	0.74219	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCNA1	35913253	1.000000	0.71417	0.988000	0.46212	0.833000	0.47200	8.941000	0.92964	2.076000	0.62316	0.460000	0.39030	.		0.393	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914	Intron	4	129	0	0	0	1	0	4	129				
SPAG7	9552	broad.mit.edu	37	17	4863593	4863593	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:4863593G>A	ENST00000206020.3	-	4	330	c.263C>T	c.(262-264)gCt>gTt	p.A88V	SPAG7_ENST00000575142.1_Missense_Mutation_p.A77V|SPAG7_ENST00000573366.1_Missense_Mutation_p.A37V	NM_004890.2	NP_004881.2	O75391	SPAG7_HUMAN	sperm associated antigen 7	88	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						TGTCAGGCCAGCCACTTCCAC	0.557																																						ENST00000573366.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						c.(109-111)gCt>gTt		sperm associated antigen 7							61.0	63.0	62.0					17																	4863593		2046	4205	6251	SO:0001583	missense	9552					nucleus	nucleic acid binding|protein binding	g.chr17:4863593G>A	AF047437	CCDS42240.1	17p13.2	2008-07-18				ENSG00000091640			11216	protein-coding gene	gene with protein product		610056				9653160	Standard	NM_004890		Approved	FSA-1, ACRP, MGC20134	uc002gae.3	O75391		ENST00000206020.3:c.263C>T	17.37:g.4863593G>A	ENSP00000206020:p.Ala88Val		Somatic				SPAG7_ENST00000206020.3_Missense_Mutation_p.A88V|SPAG7_ENST00000575142.1_Missense_Mutation_p.A77V	p.A37V			WXS	Illumina GAIIx	Phase_I	O75391	SPAG7_HUMAN			4	968	-			88					Q96EU5	Missense_Mutation	SNP	ENST00000206020.3	37	c.110C>T	CCDS42240.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.921026	0.92249	.	.	ENSG00000091640	ENST00000206020	T	0.42131	0.98	5.3	5.3	0.74995	Single-stranded nucleic acid binding R3H (3);	0.000000	0.85682	D	0.000000	T	0.66915	0.2838	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.70375	-0.4889	10	0.72032	D	0.01	-2.5648	16.4886	0.84191	0.0:0.0:1.0:0.0	.	88	O75391	SPAG7_HUMAN	V	88	ENSP00000206020:A88V	ENSP00000206020:A88V	A	-	2	0	SPAG7	4804316	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.762000	0.85270	2.757000	0.94681	0.655000	0.94253	GCT		0.557	SPAG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438747.1	NM_004890		3	42	0	0	0	1	0	3	42				
MAP3K9	4293	broad.mit.edu	37	14	71215544	71215544	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:71215544A>T	ENST00000554752.2	-	5	1326		c.e5+1		MAP3K9_ENST00000555993.2_Splice_Site|MAP3K9_ENST00000554146.1_Splice_Site|MAP3K9_ENST00000553414.1_Splice_Site|MAP3K9_ENST00000381250.4_Splice_Site	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9						activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		tgttttgtttaccttttcttt	0.438																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.e5+1		mitogen-activated protein kinase kinase kinase 9							70.0	67.0	68.0					14																	71215544		2203	4300	6503	SO:0001630	splice_region_variant	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71215544A>T	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1326+1T>A	14.37:g.71215544A>T			Somatic				MAP3K9_ENST00000555993.2_Splice_Site|MAP3K9_ENST00000553414.1_Splice_Site|MAP3K9_ENST00000381250.4_Splice_Site|MAP3K9_ENST00000554146.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	5	1326	-								A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Splice_Site	SNP	ENST00000554752.2	37																																																																																						0.438	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2		Intron	5	117	0	0	0	1	0	5	117				
OR51I1	390063	broad.mit.edu	37	11	5462299	5462299	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:5462299C>T	ENST00000380211.1	-	1	445	c.446G>A	c.(445-447)gGc>gAc	p.G149D	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	149					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTAAGGATGCCCAGACCCAT	0.473																																						ENST00000380211.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(445-447)gGc>gAc		olfactory receptor, family 51, subfamily I, member 1							132.0	104.0	113.0					11																	5462299		2201	4297	6498	SO:0001583	missense	390063				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5462299C>T	BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"""GPCR / Class A : Olfactory receptors"""	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.446G>A	11.37:g.5462299C>T	ENSP00000369559:p.Gly149Asp		Somatic				HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	p.G149D	NM_001005288.2	NP_001005288.1	WXS	Illumina GAIIx	Phase_I	Q9H343	O51I1_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	445	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	149					B9EKW2|Q6IF33	Missense_Mutation	SNP	ENST00000380211.1	37	c.446G>A	CCDS31382.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565430	0.45694	.	.	ENSG00000167359	ENST00000317283;ENST00000321307;ENST00000380211	T	0.39787	1.06	5.74	1.49	0.22878	GPCR, rhodopsin-like superfamily (1);	0.371511	0.23060	N	0.052395	T	0.50463	0.1617	M	0.62088	1.915	0.09310	N	1	D	0.54601	0.967	P	0.57057	0.812	T	0.36890	-0.9729	10	0.72032	D	0.01	.	8.5711	0.33569	0.2392:0.3271:0.4337:0.0	.	149	Q9H343	O51I1_HUMAN	D	134;146;149	ENSP00000369559:G149D	ENSP00000348350:G134D	G	-	2	0	OR51I1	5418875	0.000000	0.05858	0.528000	0.27938	0.515000	0.34225	-0.349000	0.07731	0.758000	0.33059	0.551000	0.68910	GGC		0.473	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288		5	397	0	0	0	1	0	5	397				
LCA5	167691	broad.mit.edu	37	6	80223213	80223213	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:80223213C>A	ENST00000392959.1	-	4	1047	c.436G>T	c.(436-438)Gcc>Tcc	p.A146S	LCA5_ENST00000467898.3_Missense_Mutation_p.A146S|LCA5_ENST00000369846.4_Missense_Mutation_p.A146S	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	146					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TTATTCAGGGCTTTCTCCTGT	0.363																																						ENST00000392959.1																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32						c.(436-438)Gcc>Tcc		Leber congenital amaurosis 5							96.0	92.0	93.0					6																	80223213		2203	4299	6502	SO:0001583	missense	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80223213C>A		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.436G>T	6.37:g.80223213C>A	ENSP00000376686:p.Ala146Ser		Somatic				LCA5_ENST00000369846.4_Missense_Mutation_p.A146S|LCA5_ENST00000467898.2_Missense_Mutation_p.A146S	p.A146S	NM_181714.3	NP_859065.2	WXS	Illumina GAIIx	Phase_I	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	4	1047	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	146					E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	c.436G>T	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961957	0.92791	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	D;D	0.89123	-2.47;-2.47	6.07	6.07	0.98685	.	0.059132	0.64402	D	0.000003	D	0.93552	0.7942	M	0.79011	2.435	0.54753	D	0.999985	P;D	0.76494	0.916;0.999	P;P	0.62560	0.654;0.904	D	0.93394	0.6754	10	0.87932	D	0	-2.8757	19.6475	0.95784	0.0:1.0:0.0:0.0	.	146;146	B4DRL2;Q86VQ0	.;LCA5_HUMAN	S	146	ENSP00000358861:A146S;ENSP00000376686:A146S	ENSP00000358861:A146S	A	-	1	0	LCA5	80279932	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.195000	0.72088	2.885000	0.99019	0.655000	0.94253	GCC		0.363	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		3	59	1	0	1	1	1	3	59				
TAF4	6874	broad.mit.edu	37	20	60574157	60574157	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:60574157T>G	ENST00000252996.4	-	12	2794	c.2795A>C	c.(2794-2796)gAc>gCc	p.D932A		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	932					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CTCATATCTGTCGTCATCCTA	0.488																																						ENST00000252996.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2794-2796)gAc>gCc		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa							263.0	277.0	273.0					20																	60574157		2203	4300	6503	SO:0001583	missense	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60574157T>G	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2795A>C	20.37:g.60574157T>G	ENSP00000252996:p.Asp932Ala		Somatic					p.D932A	NM_003185.3	NP_003176.2	WXS	Illumina GAIIx	Phase_I	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		12	2794	-	Breast(26;1e-08)		932					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	c.2795A>C	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.502145	0.44455	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.22945	1.94;1.93	5.39	5.39	0.77823	Transcription initiation factor TFIID component TAF4 (1);	0.362695	0.30501	N	0.009491	T	0.22475	0.0542	L	0.36672	1.1	0.50813	D	0.999893	P	0.38280	0.625	B	0.38156	0.266	T	0.03249	-1.1056	10	0.19590	T	0.45	-9.697	15.3546	0.74418	0.0:0.0:0.0:1.0	.	932	O00268	TAF4_HUMAN	A	932;796	ENSP00000252996:D932A;ENSP00000399091:D796A	ENSP00000252996:D932A	D	-	2	0	TAF4	60007552	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	4.592000	0.61027	2.042000	0.60477	0.402000	0.26972	GAC		0.488	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		5	428	0	0	0	1	0	5	428				
PDXK	8566	broad.mit.edu	37	21	45152365	45152365	+	Intron	SNP	C	C	A	rs370464739		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr21:45152365C>A	ENST00000291565.4	+	2	270				PDXK_ENST00000476313.1_Intron|PDXK_ENST00000327574.4_Nonsense_Mutation_p.S36*|PDXK_ENST00000398081.1_Intron|PDXK_ENST00000468090.1_Intron	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase						cell proliferation (GO:0008283)|pyridoxal 5'-phosphate salvage (GO:0009443)|pyridoxal phosphate biosynthetic process (GO:0042823)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|protein homodimerization activity (GO:0042803)|pyridoxal kinase activity (GO:0008478)|pyridoxal phosphate binding (GO:0030170)|sodium ion binding (GO:0031402)|zinc ion binding (GO:0008270)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	TCAGCTTGCTCGTGCTCTCAT	0.493																																						ENST00000327574.4																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(106-108)tCg>tAg		pyridoxal (pyridoxine, vitamin B6) kinase	Pyridoxal(DB00147)|Pyridoxine(DB00165)						142.0	138.0	139.0					21																	45152365		876	1991	2867	SO:0001627	intron_variant	8566				cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding	g.chr21:45152365C>A	U89606	CCDS13699.1	21q22.3	2007-05-10			ENSG00000160209	ENSG00000160209	2.7.1.35		8819	protein-coding gene	gene with protein product		179020	"""chromosome 21 open reading frame 97"", ""chromosome 21 open reading frame 124"""	C21orf97, C21orf124		9099727	Standard	NM_003681		Approved	PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873	uc002zdm.4	O00764	OTTHUMG00000086870	ENST00000291565.4:c.88-1585C>A	21.37:g.45152365C>A			Somatic				PDXK_ENST00000398081.1_Intron|PDXK_ENST00000468090.1_Intron|PDXK_ENST00000291565.4_Intron|PDXK_ENST00000476313.1_Intron	p.S36*			WXS	Illumina GAIIx	Phase_I	O00764	PDXK_HUMAN		Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	2	457	+			0					Q7Z2Y0|Q9BS02	Nonsense_Mutation	SNP	ENST00000291565.4	37	c.107C>A	CCDS13699.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179408	0.57800	.	.	ENSG00000160209	ENST00000327574	.	.	.	1.04	0.0426	0.14218	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.0994	0.10007	0.4052:0.5948:0.0:0.0	.	.	.	.	X	36	.	.	S	+	2	0	PDXK	43976793	0.001000	0.12720	0.001000	0.08648	0.010000	0.07245	0.305000	0.19254	0.009000	0.14813	0.561000	0.74099	TCG		0.493	PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195636.1	NM_003681		3	29	1	0	0.115264	1	0.118483	3	29				
HSPA2	3306	broad.mit.edu	37	14	65008729	65008729	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:65008729T>C	ENST00000394709.1	+	2	1238	c.1162T>C	c.(1162-1164)Tca>Cca	p.S388P	HSPA2_ENST00000247207.6_Missense_Mutation_p.S388P|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	388					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CGGCGACAAATCAGAGAATGT	0.602																																					Pancreas(136;1211 1835 24894 31984 38227)	ENST00000247207.6																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22						c.(1162-1164)Tca>Cca		heat shock 70kDa protein 2							64.0	62.0	62.0					14																	65008729		2203	4300	6503	SO:0001583	missense	3306				response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	g.chr14:65008729T>C	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.1162T>C	14.37:g.65008729T>C	ENSP00000378199:p.Ser388Pro		Somatic				HSPA2_ENST00000394709.1_Missense_Mutation_p.S388P	p.S388P	NM_021979.3	NP_068814.2	WXS	Illumina GAIIx	Phase_I	P54652	HSP72_HUMAN		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	1	1544	+			388					Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	ENST00000394709.1	37	c.1162T>C	CCDS9766.1	.	.	.	.	.	.	.	.	.	.	T	17.79	3.474888	0.63737	.	.	ENSG00000126803	ENST00000394709;ENST00000247207;ENST00000545222	T;T	0.01126	5.3;5.3	5.11	5.11	0.69529	.	0.000000	0.49305	U	0.000142	T	0.06554	0.0168	M	0.93016	3.37	0.49483	D	0.999792	P	0.51791	0.948	P	0.51170	0.661	T	0.01666	-1.1300	10	0.87932	D	0	-1.8302	14.9611	0.71158	0.0:0.0:0.0:1.0	.	388	P54652	HSP72_HUMAN	P	388;388;162	ENSP00000378199:S388P;ENSP00000247207:S388P	ENSP00000247207:S388P	S	+	1	0	HSPA2	64078482	1.000000	0.71417	0.989000	0.46669	0.568000	0.35870	8.037000	0.88933	1.939000	0.56221	0.456000	0.33151	TCA		0.602	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			3	67	0	0	0	1	0	3	67				
AURKC	6795	broad.mit.edu	37	19	57743445	57743445	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:57743445G>T	ENST00000302804.7	+	3	335	c.149G>T	c.(148-150)gGc>gTc	p.G50V	AURKC_ENST00000599062.1_Missense_Mutation_p.G47V|AURKC_ENST00000448930.1_Missense_Mutation_p.G16V|AURKC_ENST00000415300.2_Missense_Mutation_p.G31V|AURKC_ENST00000598785.1_Missense_Mutation_p.G16V	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	50	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		CGTCCCCTGGGCAAGGGGAAA	0.542																																						ENST00000302804.7																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25						c.(148-150)gGc>gTc		aurora kinase C							58.0	52.0	54.0					19																	57743445		2203	4300	6503	SO:0001583	missense	6795				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	g.chr19:57743445G>T		CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.149G>T	19.37:g.57743445G>T	ENSP00000302898:p.Gly50Val		Somatic				AURKC_ENST00000599062.1_Missense_Mutation_p.G47V|AURKC_ENST00000598785.1_Missense_Mutation_p.G16V|AURKC_ENST00000448930.1_Missense_Mutation_p.G16V|AURKC_ENST00000415300.2_Missense_Mutation_p.G31V	p.G50V	NM_001015878.1	NP_001015878.1	WXS	Illumina GAIIx	Phase_I	Q9UQB9	AURKC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)	3	335	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	50			Protein kinase.		O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Missense_Mutation	SNP	ENST00000302804.7	37	c.149G>T	CCDS33128.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141139	0.77775	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	D;D;D	0.82893	-1.66;-1.66;-1.66	3.79	3.79	0.43588	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93190	0.7831	H	0.95187	3.635	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.94745	0.7922	10	0.87932	D	0	-24.3758	13.9903	0.64362	0.0:0.0:1.0:0.0	.	47;50;31	Q5Y191;Q9UQB9;Q9UQB9-3	.;AURKC_HUMAN;.	V	31;16;50	ENSP00000407162:G31V;ENSP00000406798:G16V;ENSP00000302898:G50V	ENSP00000302898:G50V	G	+	2	0	AURKC	62435257	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.093000	0.89531	2.421000	0.82119	0.555000	0.69702	GGC		0.542	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160		4	77	1	0	0.00024832	1	0.000276485	4	77				
PGBD2	267002	broad.mit.edu	37	1	249212482	249212482	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:249212482C>T	ENST00000329291.5	+	3	1846	c.1699C>T	c.(1699-1701)Cac>Tac	p.H567Y	PGBD2_ENST00000355360.4_Missense_Mutation_p.H316Y|PGBD2_ENST00000539153.1_Missense_Mutation_p.H564Y	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	567										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGCCCTCTGCCACTCACAGAC	0.552																																						ENST00000355360.4																			0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(946-948)Cac>Tac		piggyBac transposable element derived 2							115.0	120.0	118.0					1																	249212482		2203	4300	6503	SO:0001583	missense	267002							g.chr1:249212482C>T	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1699C>T	1.37:g.249212482C>T	ENSP00000331643:p.His567Tyr		Somatic				PGBD2_ENST00000329291.5_Missense_Mutation_p.H567Y|PGBD2_ENST00000539153.1_Missense_Mutation_p.H564Y	p.H316Y	NM_001017434.1	NP_001017434.1	WXS	Illumina GAIIx	Phase_I	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	1216	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	567					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.946C>T	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	.	9.273	1.046261	0.19748	.	.	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	D;D;D	0.84442	-1.85;-1.85;-1.85	3.22	3.22	0.36961	.	0.000000	0.39834	N	0.001246	D	0.86611	0.5974	L	0.36672	1.1	0.25364	N	0.988756	D;D	0.67145	0.996;0.963	D;P	0.78314	0.991;0.624	T	0.76844	-0.2809	10	0.51188	T	0.08	.	10.1894	0.43017	0.0:1.0:0.0:0.0	.	564;567	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	Y	316;567;564	ENSP00000355424:H316Y;ENSP00000331643:H567Y;ENSP00000439950:H564Y	ENSP00000331643:H567Y	H	+	1	0	PGBD2	247179105	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	1.331000	0.33793	2.086000	0.62901	0.591000	0.81541	CAC		0.552	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			7	156	0	0	0	1	0	7	156				
ATRNL1	26033	broad.mit.edu	37	10	116925316	116925316	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:116925316A>T	ENST00000355044.3	+	7	1130		c.e7-1		ATRNL1_ENST00000527407.1_Intron|ATRNL1_ENST00000529665.1_Splice_Site	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1						G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCTTGCTTTTAGTTACAATTT	0.328																																						ENST00000355044.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.e7-1		attractin-like 1							69.0	69.0	69.0					10																	116925316		2203	4296	6499	SO:0001630	splice_region_variant	26033					integral to membrane	sugar binding	g.chr10:116925316A>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.1005-1A>T	10.37:g.116925316A>T			Somatic				ATRNL1_ENST00000527407.1_Intron|ATRNL1_ENST00000529665.1_Splice_Site		NM_207303.2	NP_997186.1	WXS	Illumina GAIIx	Phase_I	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	7	1130	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)						O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Splice_Site	SNP	ENST00000355044.3	37		CCDS7592.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.375796	0.82682	.	.	ENSG00000107518	ENST00000355044	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8897	0.79286	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATRNL1	116915306	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	8.784000	0.91818	2.150000	0.67090	0.528000	0.53228	.		0.328	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349	Intron	4	54	0	0	0	1	0	4	54				
CELSR1	9620	broad.mit.edu	37	22	46835125	46835125	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:46835125C>T	ENST00000262738.3	-	3	4366	c.4367G>A	c.(4366-4368)cGg>cAg	p.R1456Q		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1456	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCTCAGGCCCCGGAAGGTGAC	0.642																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(4366-4368)cGg>cAg		cadherin, EGF LAG seven-pass G-type receptor 1							104.0	86.0	92.0					22																	46835125		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46835125C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4367G>A	22.37:g.46835125C>T	ENSP00000262738:p.Arg1456Gln		Somatic					p.R1456Q	NM_014246.1	NP_055061.1	WXS	Illumina GAIIx	Phase_I	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	3	4366	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1456			Laminin G-like 1.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.4367G>A	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017403	0.54576	.	.	ENSG00000075275	ENST00000262738	T	0.79653	-1.29	5.1	4.01	0.46588	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.165961	0.34932	U	0.003575	T	0.78381	0.4274	L	0.50847	1.595	0.80722	D	1	D	0.67145	0.996	P	0.55667	0.781	T	0.75274	-0.3375	10	0.27082	T	0.32	.	3.523	0.07750	0.0:0.6225:0.0:0.3775	.	1456	Q9NYQ6	CELR1_HUMAN	Q	1456	ENSP00000262738:R1456Q	ENSP00000262738:R1456Q	R	-	2	0	CELSR1	45213789	0.867000	0.29959	0.942000	0.38095	0.161000	0.22273	1.538000	0.36094	2.387000	0.81309	0.561000	0.74099	CGG		0.642	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		4	323	0	0	0	1	0	4	323				
HERC6	55008	broad.mit.edu	37	4	89334236	89334236	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:89334236C>T	ENST00000264346.7	+	12	1435	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	HERC6_ENST00000380265.5_Missense_Mutation_p.T459M	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	459					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.T459M(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CAGATAACTACGTGTCTCGAG	0.443																																						ENST00000380265.5																			1	Substitution - Missense(1)	p.T459M(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11						c.(1375-1377)aCg>aTg		HECT and RLD domain containing E3 ubiquitin protein ligase family member 6							215.0	206.0	209.0					4																	89334236		1920	4150	6070	SO:0001583	missense	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89334236C>T	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.1376C>T	4.37:g.89334236C>T	ENSP00000264346:p.Thr459Met		Somatic				HERC6_ENST00000264346.7_Missense_Mutation_p.T459M	p.T459M	NM_001165136.1	NP_001158608.1	WXS	Illumina GAIIx	Phase_I	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	12	1559	+		Hepatocellular(203;0.114)	459					B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	c.1376C>T	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474851	0.26511	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.39997	1.05;1.08	4.76	-1.71	0.08133	.	1.440270	0.04266	N	0.341279	T	0.51991	0.1707	M	0.66939	2.045	0.09310	N	1	D;D	0.76494	0.999;0.999	P;P	0.59703	0.862;0.732	T	0.39921	-0.9590	10	0.54805	T	0.06	.	1.1796	0.01842	0.3773:0.2162:0.2472:0.1593	.	459;459	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	M	459	ENSP00000369617:T459M;ENSP00000264346:T459M	ENSP00000264346:T459M	T	+	2	0	HERC6	89553259	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.630000	0.05502	-0.683000	0.05190	-0.302000	0.09304	ACG		0.443	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			16	2057	0	0	0	1	0	16	2057				
ATP1A3	478	broad.mit.edu	37	19	42473048	42473048	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:42473048A>G	ENST00000302102.5	-	20	2858	c.2708T>C	c.(2707-2709)gTg>gCg	p.V903A	ATP1A3_ENST00000543770.1_Missense_Mutation_p.V914A|ATP1A3_ENST00000602133.1_Missense_Mutation_p.V873A|ATP1A3_ENST00000545399.1_Missense_Mutation_p.V916A	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	903					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GAACTCCACCACCTTCCTCTG	0.612																																						ENST00000545399.1																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						c.(2746-2748)gTg>gCg		ATPase, Na+/K+ transporting, alpha 3 polypeptide							129.0	90.0	103.0					19																	42473048		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42473048A>G		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.2708T>C	19.37:g.42473048A>G	ENSP00000302397:p.Val903Ala		Somatic				ATP1A3_ENST00000602133.1_Missense_Mutation_p.V873A|ATP1A3_ENST00000543770.1_Missense_Mutation_p.V914A|ATP1A3_ENST00000302102.5_Missense_Mutation_p.V903A	p.V916A	NM_001256214.1	NP_001243143.1	WXS	Illumina GAIIx	Phase_I	P13637	AT1A3_HUMAN			20	2900	-			903					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.2747T>C	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	A	17.65	3.442446	0.63067	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79	3.45	2.43	0.29744	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.156320	0.42682	D	0.000670	D	0.89908	0.6851	N	0.25890	0.77	0.37586	D	0.919987	B;B;B;B	0.25667	0.0;0.108;0.04;0.131	B;B;B;B	0.35413	0.003;0.128;0.05;0.202	D	0.83586	0.0120	10	0.15952	T	0.53	.	6.6524	0.22969	0.8767:0.0:0.1233:0.0	.	916;914;903;903	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	A	903;903;916;873;647;914	ENSP00000302397:V903A;ENSP00000411503:V903A;ENSP00000444688:V916A;ENSP00000437577:V914A	ENSP00000302397:V903A	V	-	2	0	ATP1A3	47164888	0.914000	0.31030	1.000000	0.80357	0.976000	0.68499	5.844000	0.69430	1.596000	0.50062	0.379000	0.24179	GTG		0.612	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		5	255	0	0	0	1	0	5	255				
THBS1	7057	broad.mit.edu	37	15	39885673	39885673	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:39885673G>A	ENST00000260356.5	+	19	3236	c.3071G>A	c.(3070-3072)gGa>gAa	p.G1024E	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1024	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		GACTATGCTGGATTTGTCTTT	0.517																																						ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(3070-3072)gGa>gAa		thrombospondin 1	Becaplermin(DB00102)						157.0	159.0	158.0					15																	39885673		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39885673G>A		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3071G>A	15.37:g.39885673G>A	ENSP00000260356:p.Gly1024Glu		Somatic					p.G1024E	NM_003246.2	NP_003237.2	WXS	Illumina GAIIx	Phase_I	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	19	3236	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	1024			TSP C-terminal.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.3071G>A	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988614	0.93106	.	.	ENSG00000137801	ENST00000260356	D	0.96967	-4.19	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.35525	N	0.003146	D	0.98557	0.9518	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99170	1.0864	10	0.87932	D	0	-15.112	19.9729	0.97289	0.0:0.0:1.0:0.0	.	939;1024	B4E3J7;P07996	.;TSP1_HUMAN	E	1024	ENSP00000260356:G1024E	ENSP00000260356:G1024E	G	+	2	0	THBS1	37672965	1.000000	0.71417	0.898000	0.35279	0.992000	0.81027	9.864000	0.99589	2.714000	0.92807	0.655000	0.94253	GGA		0.517	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		5	577	0	0	0	1	0	5	577				
CD209	30835	broad.mit.edu	37	19	7811408	7811408	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:7811408C>T	ENST00000315599.7	-	3	138	c.116G>A	c.(115-117)gGc>gAc	p.G39D	CD209_ENST00000394161.5_Missense_Mutation_p.G39D|CD209_ENST00000354397.6_Missense_Mutation_p.G39D|CD209_ENST00000204801.8_Intron|CD209_ENST00000394173.4_Missense_Mutation_p.G39D|CD209_ENST00000593660.1_Intron|CD209_ENST00000601951.1_Intron|CD209_ENST00000301357.8_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000601256.1_Intron|CD209_ENST00000315591.8_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.G39D	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	39					antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GGGACCATGGCCAAGACACCC	0.642																																						ENST00000315599.7																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(115-117)gGc>gAc		CD209 molecule							160.0	129.0	139.0					19																	7811408		2203	4300	6503	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7811408C>T	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.116G>A	19.37:g.7811408C>T	ENSP00000315477:p.Gly39Asp		Somatic				CD209_ENST00000602261.1_Missense_Mutation_p.G39D|CD209_ENST00000601256.1_Intron|CD209_ENST00000601951.1_Intron|CD209_ENST00000394173.4_Missense_Mutation_p.G39D|CD209_ENST00000204801.8_Intron|CD209_ENST00000301357.8_Intron|CD209_ENST00000593660.1_Intron|CD209_ENST00000394161.5_Missense_Mutation_p.G39D|CD209_ENST00000593821.1_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.G39D|CD209_ENST00000315591.8_Intron	p.G39D	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	WXS	Illumina GAIIx	Phase_I	Q9NNX6	CD209_HUMAN			3	138	-			39					A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.116G>A	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900540	0.33535	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000394173;ENST00000394161;ENST00000540789	T;T;T;T	0.10288	3.96;4.34;3.82;2.89	2.13	1.01	0.19927	.	.	.	.	.	T	0.19886	0.0478	L	0.41961	1.31	0.09310	N	1	D;D;D;D;D;D	0.89917	0.993;0.995;0.999;1.0;0.996;1.0	P;P;D;D;P;D	0.74023	0.826;0.897;0.982;0.942;0.876;0.93	T	0.09292	-1.0681	9	0.72032	D	0.01	.	5.5713	0.17198	0.3464:0.6536:0.0:0.0	.	39;39;39;39;39;39	B2R907;Q9NNX6-4;Q9NNX6-2;G5E9C4;Q9NNX6;Q9NNX6-5	.;.;.;.;CD209_HUMAN;.	D	39;39;39;39;19	ENSP00000315477:G39D;ENSP00000346373:G39D;ENSP00000377728:G39D;ENSP00000377716:G39D	ENSP00000315477:G39D	G	-	2	0	CD209	7717408	0.002000	0.14202	0.014000	0.15608	0.029000	0.11900	0.370000	0.20433	0.384000	0.24942	0.557000	0.71058	GGC		0.642	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		5	352	0	0	0	1	0	5	352				
DLG5	9231	broad.mit.edu	37	10	79566670	79566670	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:79566670G>A	ENST00000372391.2	-	26	4818	c.4813C>T	c.(4813-4815)Ctg>Ttg	p.L1605L	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.L1265L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1605	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ACATCTGCCAGCCGGTCGTAC	0.597																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(4813-4815)Ctg>Ttg		discs, large homolog 5 (Drosophila)							113.0	98.0	103.0					10																	79566670		2203	4300	6503	SO:0001819	synonymous_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79566670G>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4813C>T	10.37:g.79566670G>A			Somatic				DLG5_ENST00000372388.2_Silent_p.L1265L|DLG5_ENST00000459739.1_5'UTR	p.L1605L	NM_004747.3	NP_004738.3	WXS	Illumina GAIIx	Phase_I	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		26	4818	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1605			SH3.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	c.4813C>T	CCDS7353.2																																																																																				0.597	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			3	61	0	0	0	1	0	3	61				
AGAP11	119385	broad.mit.edu	37	10	88768273	88768273	+	RNA	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:88768273C>T	ENST00000444431.1	+	0	2873				RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										AGTCCATGGGCTGGTCCAACC	0.567																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11							149.0	162.0	158.0					10																	88768273		2179	4294	6473			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88768273C>T			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88768273C>T			Somatic				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA				WXS	Illumina GAIIx	Phase_I	Q8TF27	AGA11_HUMAN			0	2873	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.567	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		14	1001	0	0	0	1	0	14	1001				
GGCX	2677	broad.mit.edu	37	2	85779652	85779652	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:85779652G>T	ENST00000233838.4	-	10	1406	c.1326C>A	c.(1324-1326)gaC>gaA	p.D442E	GGCX_ENST00000473665.1_5'UTR|GGCX_ENST00000430215.3_Missense_Mutation_p.D385E	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	442					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	GCTTCAGCATGTCTGCATGAT	0.478											OREG0014747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000233838.3																			0				endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15						c.(1324-1326)gaC>gaA		gamma-glutamyl carboxylase	Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)						163.0	151.0	155.0					2																	85779652		2203	4300	6503	SO:0001583	missense	2677				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity	g.chr2:85779652G>T		CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.1326C>A	2.37:g.85779652G>T	ENSP00000233838:p.Asp442Glu		Somatic	OREG0014747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1239	GGCX_ENST00000430215.3_Missense_Mutation_p.D385E|GGCX_ENST00000473665.1_5'UTR	p.D442E	NM_000821.5	NP_000812.2	WXS	Illumina GAIIx	Phase_I	P38435	VKGC_HUMAN			10	1406	-			442					B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP	ENST00000233838.4	37	c.1326C>A	CCDS1978.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964343	0.74131	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	D;D	0.94576	-3.46;-3.46	5.95	4.16	0.48862	.	0.000000	0.85682	D	0.000000	D	0.96661	0.8910	M	0.81497	2.545	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.91635	0.977;0.999;0.98	D	0.96585	0.9433	10	0.72032	D	0.01	-23.639	10.0702	0.42328	0.16:0.0:0.84:0.0	.	385;281;442	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	E	442;385	ENSP00000233838:D442E;ENSP00000408045:D385E	ENSP00000233838:D442E	D	-	3	2	GGCX	85633163	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.273000	0.58914	1.534000	0.49203	0.655000	0.94253	GAC		0.478	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821		202	1332	1	0	2.84368e-68	1	3.90426e-68	202	1332				
MYRF	745	broad.mit.edu	37	11	61538984	61538984	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:61538984C>A	ENST00000278836.5	+	6	849	c.753C>A	c.(751-753)caC>caA	p.H251Q	MYRF_ENST00000327797.1_5'Flank|MYRF_ENST00000265460.5_Missense_Mutation_p.H242Q|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	251	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TCCCTACACACCCCTCCAAGA	0.617																																						ENST00000278836.5																			0											c.(751-753)caC>caA		myelin regulatory factor							52.0	57.0	56.0					11																	61538984		2202	4299	6501	SO:0001583	missense	745							g.chr11:61538984C>A		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.753C>A	11.37:g.61538984C>A	ENSP00000278836:p.His251Gln		Somatic				MYRF_ENST00000265460.5_Missense_Mutation_p.H242Q|TMEM258_ENST00000535042.1_Intron	p.H251Q	NM_001127392.1	NP_001120864.1	WXS	Illumina GAIIx	Phase_I					6	849	+								O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	c.753C>A	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	c	14.01	2.407297	0.42715	.	.	ENSG00000124920	ENST00000278836;ENST00000265460	T;T	0.34072	1.39;1.38	4.41	3.49	0.39957	NDT80 DNA-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.43545	0.1252	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.991	T	0.35151	-0.9800	10	0.66056	D	0.02	-29.9024	8.6114	0.33804	0.0:0.7531:0.0:0.2469	.	242;251	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	Q	251;242	ENSP00000278836:H251Q;ENSP00000265460:H242Q	ENSP00000265460:H242Q	H	+	3	2	C11orf9	61295560	0.973000	0.33851	1.000000	0.80357	0.978000	0.69477	0.164000	0.16542	0.996000	0.38943	0.457000	0.33378	CAC		0.617	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		3	9	1	0	1	1	1	3	9				
KLHDC7A	127707	broad.mit.edu	37	1	18809651	18809651	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:18809651T>C	ENST00000400664.1	+	1	2228	c.2176T>C	c.(2176-2178)Tac>Cac	p.Y726H		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	726						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAACCTCATCTACTGCGTGGG	0.662																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(2176-2178)Tac>Cac		kelch domain containing 7A							91.0	79.0	83.0					1																	18809651		2203	4300	6503	SO:0001583	missense	127707					integral to membrane		g.chr1:18809651T>C	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.2176T>C	1.37:g.18809651T>C	ENSP00000383505:p.Tyr726His		Somatic					p.Y726H	NM_152375.2	NP_689588.2	WXS	Illumina GAIIx	Phase_I	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	2228	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	726					Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.2176T>C	CCDS185.2	.	.	.	.	.	.	.	.	.	.	T	15.82	2.946799	0.53186	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.19938	2.11	5.08	3.73	0.42828	Kelch-type beta propeller (1);	0.255042	0.33127	N	0.005256	T	0.19208	0.0461	L	0.37630	1.12	0.27896	N	0.939169	P;P	0.49783	0.928;0.928	P;P	0.46975	0.533;0.533	T	0.04522	-1.0945	10	0.44086	T	0.13	.	8.148	0.31124	0.0:0.1463:0.0:0.8537	.	663;726	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	H	726;663	ENSP00000383505:Y726H	ENSP00000383505:Y726H	Y	+	1	0	KLHDC7A	18682238	1.000000	0.71417	0.956000	0.39512	0.994000	0.84299	2.239000	0.43079	1.900000	0.55004	0.533000	0.62120	TAC		0.662	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		3	26	0	0	0	1	0	3	26				
ACSM2B	348158	broad.mit.edu	37	16	20554584	20554584	+	Splice_Site	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:20554584C>T	ENST00000329697.6	-	11	1450	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	ACSM2B_ENST00000567288.1_5'Flank|ACSM2B_ENST00000567001.1_Splice_Site_p.E428K|ACSM2B_ENST00000565232.1_Splice_Site_p.E428K|ACSM2B_ENST00000565322.1_Splice_Site_p.E349K	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	428					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TCGGGATTTTCCTGGTGACCA	0.483																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.e11-1		acyl-CoA synthetase medium-chain family member 2B							77.0	135.0	116.0					16																	20554584		2165	4300	6465	SO:0001630	splice_region_variant	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20554584C>T	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1282-1G>A	16.37:g.20554584C>T			Somatic				ACSM2B_ENST00000567001.1_Splice_Site_p.E428_splice|ACSM2B_ENST00000565322.1_Splice_Site_p.E349_splice|ACSM2B_ENST00000565232.1_Splice_Site_p.E428_splice	p.E428_splice	NM_001105069.1	NP_001098539.1	WXS	Illumina GAIIx	Phase_I	Q68CK6	ACS2B_HUMAN			11	1450	-			428					Q86YT1	Splice_Site	SNP	ENST00000329697.6	37	c.1281_splice	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.832750	0.00579	.	.	ENSG00000066813	ENST00000329697	T	0.43688	0.94	3.26	1.12	0.20585	AMP-dependent synthetase/ligase (1);	0.721394	0.11798	N	0.528403	T	0.19927	0.0479	N	0.04090	-0.28	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.05468	-1.0883	10	0.28530	T	0.3	-0.0081	9.2835	0.37742	0.0:0.8498:0.0:0.1502	.	428;428	A8K051;Q68CK6	.;ACS2B_HUMAN	K	428	ENSP00000327453:E428K	ENSP00000327453:E428K	E	-	1	0	ACSM2B	20462085	1.000000	0.71417	0.262000	0.24481	0.015000	0.08874	2.306000	0.43673	0.163000	0.19507	-0.320000	0.08662	GAA		0.483	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617	Missense_Mutation	4	174	0	0	0	1	0	4	174				
FPR1	2357	broad.mit.edu	37	19	52250087	52250087	+	Missense_Mutation	SNP	C	C	T	rs145808420		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:52250087C>T	ENST00000595042.1	-	3	302	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	FPR1_ENST00000304748.4_Missense_Mutation_p.R54Q	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	54					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GTGTGTCATCCGGAATCCAGC	0.527																																						ENST00000595042.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20						c.(160-162)cGg>cAg		formyl peptide receptor 1	Nedocromil(DB00716)	C	GLN/ARG,GLN/ARG	2,4404		0,2,2201	159.0	125.0	136.0		161,161	2.6	0.6	19	dbSNP_134	136	0,8600		0,0,4300	no	missense,missense	FPR1	NM_001193306.1,NM_002029.3	43,43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	54/351,54/351	52250087	2,13004	2203	4300	6503	SO:0001583	missense	2357				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52250087C>T	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.161G>A	19.37:g.52250087C>T	ENSP00000471493:p.Arg54Gln		Somatic				FPR1_ENST00000304748.4_Missense_Mutation_p.R54Q	p.R54Q	NM_001193306.1	NP_001180235.1	WXS	Illumina GAIIx	Phase_I	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	3	302	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	54					Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	c.161G>A	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	16.78	3.217300	0.58560	4.54E-4	0.0	ENSG00000171051	ENST00000304748	T	0.40756	1.02	3.67	2.62	0.31277	GPCR, rhodopsin-like superfamily (1);	0.431779	0.22832	N	0.055096	T	0.36358	0.0964	L	0.46741	1.465	0.30025	N	0.813958	P	0.44659	0.84	P	0.45343	0.477	T	0.25047	-1.0143	10	0.35671	T	0.21	.	6.6407	0.22906	0.0:0.7667:0.0:0.2333	.	54	P21462	FPR1_HUMAN	Q	54	ENSP00000302707:R54Q	ENSP00000302707:R54Q	R	-	2	0	FPR1	56941899	0.982000	0.34865	0.578000	0.28575	0.877000	0.50540	1.505000	0.35736	0.834000	0.34852	-0.244000	0.11960	CGG		0.527	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		12	1251	0	0	0	1	0	12	1251				
MYO18B	84700	broad.mit.edu	37	22	26219542	26219542	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:26219542G>T	ENST00000407587.2	+	13	2761	c.2592G>T	c.(2590-2592)gaG>gaT	p.E864D	MYO18B_ENST00000536101.1_Missense_Mutation_p.E864D|MYO18B_ENST00000335473.7_Missense_Mutation_p.E864D			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	864	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCGAGTATGAGGAGCTGAACA	0.572																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(2590-2592)gaG>gaT		myosin XVIIIB							140.0	140.0	140.0					22																	26219542		2091	4213	6304	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26219542G>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2592G>T	22.37:g.26219542G>T	ENSP00000386096:p.Glu864Asp		Somatic				MYO18B_ENST00000536101.1_Missense_Mutation_p.E864D|MYO18B_ENST00000407587.2_Missense_Mutation_p.E864D	p.E864D	NM_032608.5	NP_115997.5	WXS	Illumina GAIIx	Phase_I	Q8IUG5	MY18B_HUMAN			13	2842	+			864			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.2592G>T		.	.	.	.	.	.	.	.	.	.	G	15.22	2.769616	0.49680	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.72942	-0.7;-0.7;-0.7	4.63	2.48	0.30137	Myosin head, motor domain (2);	0.126087	0.50627	D	0.000110	T	0.73521	0.3597	L	0.38733	1.17	0.37427	D	0.913888	P;D;D;D	0.89917	0.77;0.966;1.0;0.957	B;P;D;P	0.83275	0.44;0.905;0.996;0.846	T	0.75783	-0.3196	10	0.59425	D	0.04	.	8.3102	0.32066	0.2685:0.0:0.7315:0.0	.	377;864;864;864	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	D	864	ENSP00000441229:E864D;ENSP00000334563:E864D;ENSP00000386096:E864D	ENSP00000334563:E864D	E	+	3	2	MYO18B	24549542	1.000000	0.71417	1.000000	0.80357	0.314000	0.28054	2.518000	0.45537	1.067000	0.40740	-0.404000	0.06349	GAG		0.572	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		5	423	1	0	1.024e-07	1	1.22838e-07	5	423				
TTF1	7270	broad.mit.edu	37	9	135266069	135266069	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:135266069G>A	ENST00000334270.2	-	7	2176	c.2137C>T	c.(2137-2139)Cgg>Tgg	p.R713W		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	713	Myb-like 2. {ECO:0000255|PROSITE- ProRule:PRU00133}.				chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		AGTTTTTCCCGAACAATTGAT	0.418																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2137-2139)Cgg>Tgg		transcription termination factor, RNA polymerase I							200.0	192.0	195.0					9																	135266069		2203	4300	6503	SO:0001583	missense	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135266069G>A	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.2137C>T	9.37:g.135266069G>A	ENSP00000333920:p.Arg713Trp		Somatic					p.R713W	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	WXS	Illumina GAIIx	Phase_I	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	7	2176	-		Myeloproliferative disorder(178;0.204)	713			Myb-like 2.		A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	c.2137C>T	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329224	0.60743	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.14893	2.47	5.76	3.87	0.44632	SANT domain, DNA binding (1);MYB-like (1);	0.082106	0.42964	D	0.000623	T	0.29158	0.0725	L	0.34521	1.04	0.39744	D	0.971793	D	0.89917	1.0	D	0.87578	0.998	T	0.03249	-1.1056	10	0.72032	D	0.01	.	11.3958	0.49841	0.0:0.0:0.6507:0.3493	.	713	Q15361	TTF1_HUMAN	W	713	ENSP00000333920:R713W	ENSP00000245588:R713W	R	-	1	2	TTF1	134255890	1.000000	0.71417	0.995000	0.50966	0.774000	0.43823	4.327000	0.59247	0.711000	0.32018	0.655000	0.94253	CGG		0.418	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		10	962	0	0	0	1	0	10	962				
SUV39H2	79723	broad.mit.edu	37	10	14939306	14939306	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:14939306T>A	ENST00000354919.6	+	3	639	c.639T>A	c.(637-639)aaT>aaA	p.N213K	SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000313519.5_Missense_Mutation_p.N153K	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	213	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						TGGCTTATAATAAAAACCAAC	0.393																																						ENST00000313519.5																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						c.(457-459)aaT>aaA		suppressor of variegation 3-9 homolog 2 (Drosophila)							114.0	111.0	112.0					10																	14939306		2203	4300	6503	SO:0001583	missense	79723				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding	g.chr10:14939306T>A	AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"""Chromatin-modifying enzymes / K-methyltransferases"""	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.639T>A	10.37:g.14939306T>A	ENSP00000346997:p.Asn213Lys		Somatic				SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000354919.6_Missense_Mutation_p.N213K	p.N153K	NM_001193425.1|NM_024670.3	NP_001180354.1|NP_078946.1	WXS	Illumina GAIIx	Phase_I	Q9H5I1	SUV92_HUMAN			2	690	+			213					D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Missense_Mutation	SNP	ENST00000354919.6	37	c.459T>A	CCDS53494.1	.	.	.	.	.	.	.	.	.	.	T	18.15	3.559467	0.65538	.	.	ENSG00000152455	ENST00000354919;ENST00000313519;ENST00000420416	T;T;T	0.75704	-0.96;-0.96;-0.96	5.86	2.26	0.28386	Pre-SET domain (2);	0.000000	0.85682	D	0.000000	T	0.79009	0.4374	M	0.75884	2.315	0.50813	D	0.999896	D	0.54964	0.969	P	0.53954	0.738	T	0.77245	-0.2659	10	0.59425	D	0.04	.	9.2823	0.37735	0.0:0.205:0.0:0.795	.	213	Q9H5I1	SUV92_HUMAN	K	213;153;153	ENSP00000346997:N213K;ENSP00000319208:N153K;ENSP00000392201:N153K	ENSP00000319208:N153K	N	+	3	2	SUV39H2	14979312	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.186000	0.50942	0.201000	0.20466	-0.297000	0.09499	AAT		0.393	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2	NM_024670		5	89	0	0	0	1	0	5	89				
OR1M1	125963	broad.mit.edu	37	19	9204294	9204294	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:9204294C>T	ENST00000429566.3	+	1	440	c.374C>T	c.(373-375)gCc>gTc	p.A125V		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CGGTTCGTGGCCATCTGCCAC	0.542																																						ENST00000429566.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(373-375)gCc>gTc		olfactory receptor, family 1, subfamily M, member 1							117.0	82.0	94.0					19																	9204294		2203	4300	6503	SO:0001583	missense	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204294C>T		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.374C>T	19.37:g.9204294C>T	ENSP00000401966:p.Ala125Val		Somatic					p.A125V	NM_001004456.1	NP_001004456.1	WXS	Illumina GAIIx	Phase_I	Q8NGA1	OR1M1_HUMAN			1	440	+			125					B9EHA6|Q6IFJ3|Q96R91	Missense_Mutation	SNP	ENST00000429566.3	37	c.374C>T	CCDS32896.1	.	.	.	.	.	.	.	.	.	.	c	21.4	4.147418	0.77888	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	T	0.01228	5.14	3.9	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000029	T	0.16938	0.0407	H	0.98866	4.355	0.48040	D	0.999571	D	0.69078	0.997	D	0.75020	0.985	T	0.39683	-0.9602	10	0.87932	D	0	.	15.0352	0.71741	0.0:1.0:0.0:0.0	.	125	Q8NGA1	OR1M1_HUMAN	V	128;125	ENSP00000401966:A125V	ENSP00000303195:A128V	A	+	2	0	OR1M1	9065294	1.000000	0.71417	0.983000	0.44433	0.414000	0.31173	4.598000	0.61069	2.180000	0.69256	0.645000	0.84053	GCC		0.542	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			4	239	0	0	0	1	0	4	239				
FRYL	285527	broad.mit.edu	37	4	48575226	48575226	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:48575226C>A	ENST00000503238.1	-	23	2880	c.2881G>T	c.(2881-2883)Gaa>Taa	p.E961*	FRYL_ENST00000537810.1_Nonsense_Mutation_p.E961*|FRYL_ENST00000507711.1_Nonsense_Mutation_p.E961*|FRYL_ENST00000358350.4_Nonsense_Mutation_p.E961*|FRYL_ENST00000264319.7_5'UTR|RNU5E-3P_ENST00000515913.1_RNA			O94915	FRYL_HUMAN	FRY-like	961					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCGAGTGCTTCTTTAATTATG	0.343																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(2881-2883)Gaa>Taa		FRY-like							107.0	109.0	108.0					4																	48575226		1873	4097	5970	SO:0001587	stop_gained	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48575226C>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.2881G>T	4.37:g.48575226C>A	ENSP00000426064:p.Glu961*		Somatic				FRYL_ENST00000507711.1_Nonsense_Mutation_p.E961*|FRYL_ENST00000503238.1_Nonsense_Mutation_p.E961*|FRYL_ENST00000358350.4_Nonsense_Mutation_p.E961*|FRYL_ENST00000264319.7_5'UTR	p.E961*			WXS	Illumina GAIIx	Phase_I	O94915	FRYL_HUMAN			26	3485	-			961					O95640|Q8WTZ5|Q9NT40	Nonsense_Mutation	SNP	ENST00000503238.1	37	c.2881G>T	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	47	13.127445	0.99721	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	.	.	.	5.8	5.8	0.92144	.	0.135098	0.48767	U	0.000178	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	20.0593	0.97671	0.0:1.0:0.0:0.0	.	.	.	.	X	961	.	ENSP00000351113:E961X	E	-	1	0	FRYL	48269983	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.406000	0.80017	2.737000	0.93849	0.655000	0.94253	GAA		0.343	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			14	74	1	0	1.64113e-05	1	1.8806e-05	14	74				
AP4B1	10717	broad.mit.edu	37	1	114437917	114437917	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:114437917C>A	ENST00000369569.1	-	10	2270	c.1990G>T	c.(1990-1992)Gtg>Ttg	p.V664L	AP4B1_ENST00000256658.4_Missense_Mutation_p.V664L|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.V496L|AP4B1_ENST00000462591.1_5'UTR	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	664					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-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)		TGGATGTTCACTACTTGAAGA	0.488																																						ENST00000369569.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(1990-1992)Gtg>Ttg		adaptor-related protein complex 4, beta 1 subunit							92.0	91.0	91.0					1																	114437917		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114437917C>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1990G>T	1.37:g.114437917C>A	ENSP00000358582:p.Val664Leu		Somatic				AP4B1_ENST00000256658.4_Missense_Mutation_p.V664L|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.V496L|AP4B1_ENST00000462591.1_5'UTR	p.V664L	NM_001253852.1	NP_001240781.1	WXS	Illumina GAIIx	Phase_I	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	2270	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	664					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.1990G>T	CCDS865.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500208	0.64298	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658	T;T;T	0.63744	-0.06;-0.04;-0.04	5.83	5.83	0.93111	Clathrin adaptor, beta-adaptin, appendage, C-terminal subdomain (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.058771	0.64402	D	0.000002	T	0.39627	0.1085	L	0.32530	0.975	0.80722	D	1	B;B	0.27416	0.178;0.085	B;B	0.27380	0.079;0.075	T	0.27054	-1.0085	10	0.21540	T	0.41	.	18.3076	0.90188	0.0:1.0:0.0:0.0	.	496;664	B1ALD0;Q9Y6B7	.;AP4B1_HUMAN	L	496;664;664	ENSP00000358580:V496L;ENSP00000358582:V664L;ENSP00000256658:V664L	ENSP00000256658:V664L	V	-	1	0	AP4B1	114239440	0.999000	0.42202	0.999000	0.59377	0.995000	0.86356	4.485000	0.60279	2.758000	0.94735	0.563000	0.77884	GTG		0.488	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		10	213	1	0	1.76689e-08	1	2.12822e-08	10	213				
CAPN2	824	broad.mit.edu	37	1	223954130	223954130	+	Silent	SNP	A	A	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:223954130A>C	ENST00000295006.5	+	16	2061	c.1752A>C	c.(1750-1752)ctA>ctC	p.L584L	CAPN2_ENST00000474026.1_3'UTR|CAPN2_ENST00000433674.2_Silent_p.L506L	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	584	Domain IV.|EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TTGACATGCTAGATGTATCCT	0.403																																						ENST00000295006.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29						c.(1750-1752)ctA>ctC		calpain 2, (m/II) large subunit							136.0	119.0	125.0					1																	223954130		2203	4300	6503	SO:0001819	synonymous_variant	824				proteolysis	cytoplasm|plasma membrane		g.chr1:223954130A>C	J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1752A>C	1.37:g.223954130A>C			Somatic				CAPN2_ENST00000474026.1_3'UTR|CAPN2_ENST00000433674.2_Silent_p.L506L	p.L584L	NM_001748.4	NP_001739.2	WXS	Illumina GAIIx	Phase_I	P17655	CAN2_HUMAN		GBM - Glioblastoma multiforme(131;0.109)	16	2061	+			584			Domain IV.|EF-hand 1.		A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Silent	SNP	ENST00000295006.5	37	c.1752A>C	CCDS31035.1																																																																																				0.403	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748		5	104	0	0	0	1	0	5	104				
GRXCR2	643226	broad.mit.edu	37	5	145252410	145252410	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:145252410T>C	ENST00000377976.1	-	1	121	c.122A>G	c.(121-123)gAa>gGa	p.E41G		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	41						cell projection (GO:0042995)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						TGACTCTAATTCCTGCCCATC	0.488																																						ENST00000377976.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						c.(121-123)gAa>gGa		glutaredoxin, cysteine rich 2							146.0	142.0	143.0					5																	145252410		2203	4300	6503	SO:0001583	missense	643226							g.chr5:145252410T>C		CCDS34263.1	5q32	2014-03-14			ENSG00000204928	ENSG00000204928			33862	protein-coding gene	gene with protein product		615762				24619944	Standard	NM_001080516		Approved	DFNB101	uc003lns.1	A6NFK2	OTTHUMG00000163417	ENST00000377976.1:c.122A>G	5.37:g.145252410T>C	ENSP00000367214:p.Glu41Gly		Somatic					p.E41G	NM_001080516.1	NP_001073985.1	WXS	Illumina GAIIx	Phase_I	A6NFK2	GRCR2_HUMAN			1	121	-			41						Missense_Mutation	SNP	ENST00000377976.1	37	c.122A>G	CCDS34263.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.086207	0.55861	.	.	ENSG00000204928	ENST00000377976	T	0.58797	0.31	5.73	5.73	0.89815	.	0.096816	0.64402	D	0.000001	T	0.71813	0.3384	M	0.64997	1.995	0.50171	D	0.999852	D	0.76494	0.999	D	0.69479	0.964	T	0.70245	-0.4925	10	0.35671	T	0.21	-28.6028	15.3006	0.73949	0.0:0.0:0.0:1.0	.	41	A6NFK2	GRCR2_HUMAN	G	41	ENSP00000367214:E41G	ENSP00000367214:E41G	E	-	2	0	GRXCR2	145232603	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	5.107000	0.64603	2.302000	0.77476	0.533000	0.62120	GAA		0.488	GRXCR2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373289.2			15	1222	0	0	0	1	0	15	1222				
MUC17	140453	broad.mit.edu	37	7	100676360	100676360	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:100676360C>G	ENST00000306151.4	+	3	1727	c.1663C>G	c.(1663-1665)Cct>Gct	p.P555A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	555	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTCTACAACTCCTGAAGGTAC	0.517																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(1663-1665)Cct>Gct		mucin 17, cell surface associated							322.0	334.0	330.0					7																	100676360		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676360C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1663C>G	7.37:g.100676360C>G	ENSP00000302716:p.Pro555Ala		Somatic					p.P555A	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	1727	+	Lung NSC(181;0.136)|all_lung(186;0.182)		555			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.1663C>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	0.722	-0.783311	0.02907	.	.	ENSG00000169876	ENST00000306151	T	0.03124	4.04	1.45	-2.9	0.05648	.	.	.	.	.	T	0.01765	0.0056	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47114	-0.9142	9	0.05959	T	0.93	.	5.7408	0.18092	0.1987:0.5176:0.2836:0.0	.	555	Q685J3	MUC17_HUMAN	A	555	ENSP00000302716:P555A	ENSP00000302716:P555A	P	+	1	0	MUC17	100463080	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.160000	0.00283	-1.608000	0.01587	-1.494000	0.00967	CCT		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	492	0	0	0	1	0	6	492				
F8	2157	broad.mit.edu	37	X	154221341	154221341	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:154221341C>A	ENST00000360256.4	-	4	671	c.471G>T	c.(469-471)tgG>tgT	p.W157C		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	157	F5/8 type A 1.|Plastocyanin-like 1.				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)			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)	TCAGGACCTGCCAGACATATG	0.448																																						ENST00000360256.4																			0				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						c.(469-471)tgG>tgT		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						260.0	234.0	243.0					X																	154221341		2203	4300	6503	SO:0001583	missense	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:154221341C>A	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.471G>T	X.37:g.154221341C>A	ENSP00000353393:p.Trp157Cys		Somatic					p.W157C	NM_000132.3	NP_000123.1	WXS	Illumina GAIIx	Phase_I	P00451	FA8_HUMAN			4	671	-	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)		157			F5/8 type A 1.|Plastocyanin-like 1.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.471G>T	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977669	0.74360	.	.	ENSG00000185010	ENST00000360256;ENST00000423959;ENST00000453950	D;D;D	0.99129	-5.46;-5.46;-5.46	5.35	5.35	0.76521	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99518	0.9828	H	0.97077	3.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98147	1.0439	10	0.87932	D	0	-6.5643	13.4297	0.61049	0.0:1.0:0.0:0.0	.	122;157	B1B0G8;P00451	.;FA8_HUMAN	C	157;122;151	ENSP00000353393:W157C;ENSP00000409446:W122C;ENSP00000389153:W151C	ENSP00000353393:W157C	W	-	3	0	F8	153874535	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.696000	0.74598	2.235000	0.73313	0.523000	0.50628	TGG		0.448	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			4	290	1	0	1	1	1	4	290				
GNL1	2794	broad.mit.edu	37	6	30520260	30520260	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:30520260C>T	ENST00000376621.3	-	8	2053	c.1083G>A	c.(1081-1083)gtG>gtA	p.V361V		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	361	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AGCCGATGGTCACCACCCCAT	0.572																																						ENST00000376621.3																			0				cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1081-1083)gtG>gtA		guanine nucleotide binding protein-like 1							165.0	136.0	146.0					6																	30520260		2203	4300	6503	SO:0001819	synonymous_variant	2794				response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity	g.chr6:30520260C>T		CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.1083G>A	6.37:g.30520260C>T			Somatic					p.V361V	NM_005275.3	NP_005266.2	WXS	Illumina GAIIx	Phase_I	P36915	GNL1_HUMAN			8	2053	-			361					B0S838|Q96CT5	Silent	SNP	ENST00000376621.3	37	c.1083G>A	CCDS4680.1																																																																																				0.572	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2			22	189	0	0	0	1	0	22	189				
IRF5	3663	broad.mit.edu	37	7	128587936	128587936	+	Missense_Mutation	SNP	G	G	A	rs144448991		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:128587936G>A	ENST00000402030.2	+	7	965	c.893G>A	c.(892-894)cGc>cAc	p.R298H	IRF5_ENST00000477535.1_Missense_Mutation_p.R212H|IRF5_ENST00000357234.5_Missense_Mutation_p.R314H|IRF5_ENST00000249375.4_Missense_Mutation_p.R298H|IRF5_ENST00000473745.1_Missense_Mutation_p.R298H	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	298					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						GAGCAAGTGCGCTTCCCCAGC	0.632																																						ENST00000402030.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						c.(892-894)cGc>cAc		interferon regulatory factor 5		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	49.0	52.0	51.0		893,941,893,635,893	5.1	1.0	7	dbSNP_134	51	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	IRF5	NM_001098627.2,NM_001098629.1,NM_001098630.1,NM_001242452.1,NM_032643.3	29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	298/499,314/515,298/499,212/413,298/499	128587936	1,13005	2203	4300	6503	SO:0001583	missense	3663				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:128587936G>A		CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.893G>A	7.37:g.128587936G>A	ENSP00000385352:p.Arg298His		Somatic				IRF5_ENST00000357234.5_Missense_Mutation_p.R314H|IRF5_ENST00000477535.1_Missense_Mutation_p.R212H|IRF5_ENST00000473745.1_Missense_Mutation_p.R298H|IRF5_ENST00000249375.4_Missense_Mutation_p.R298H	p.R298H	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	WXS	Illumina GAIIx	Phase_I	Q13568	IRF5_HUMAN			7	965	+			298					A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Missense_Mutation	SNP	ENST00000402030.2	37	c.893G>A	CCDS5808.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610722	0.66558	0.0	1.16E-4	ENSG00000128604	ENST00000357234;ENST00000477535;ENST00000402030;ENST00000249375;ENST00000473745;ENST00000412326	D;D;D;D;D	0.95069	-3.6;-3.6;-3.6;-3.6;-3.6	5.14	5.14	0.70334	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.092504	0.48286	D	0.000196	D	0.95424	0.8514	L	0.43757	1.38	0.44619	D	0.997596	D;D;P	0.89917	0.995;1.0;0.883	P;D;B	0.69307	0.69;0.963;0.202	D	0.94152	0.7406	10	0.30854	T	0.27	-5.0189	16.4637	0.84072	0.0:0.0:1.0:0.0	.	212;298;314	E7EW54;Q13568;Q13568-2	.;IRF5_HUMAN;.	H	314;212;298;298;298;288	ENSP00000349770:R314H;ENSP00000419950:R212H;ENSP00000385352:R298H;ENSP00000249375:R298H;ENSP00000419149:R298H	ENSP00000249375:R298H	R	+	2	0	IRF5	128375172	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	0.219000	0.17641	2.560000	0.86352	0.561000	0.74099	CGC		0.632	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1	NM_001098627		8	34	0	0	0	1	0	8	34				
MAGI1	9223	broad.mit.edu	37	3	65342090	65342090	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:65342090C>T	ENST00000402939.2	-	23	4351	c.4352G>A	c.(4351-4353)cGa>cAa	p.R1451Q	MAGI1_ENST00000330909.8_3'UTR|RP11-88H12.2_ENST00000602316.1_RNA	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1480					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TTTGTAAGGTCGCCTTCTCTG	0.517																																						ENST00000402939.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(4351-4353)cGa>cAa		membrane associated guanylate kinase, WW and PDZ domain containing 1							123.0	124.0	124.0					3																	65342090		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65342090C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000402939.2:c.4352G>A	3.37:g.65342090C>T	ENSP00000385450:p.Arg1451Gln		Somatic				MAGI1_ENST00000330909.8_3'UTR	p.R1451Q	NM_001033057.1	NP_001028229.1	WXS	Illumina GAIIx	Phase_I	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	23	4351	-		Lung NSC(201;0.0016)	1480					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000402939.2	37	c.4352G>A	CCDS33780.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932770	0.52866	.	.	ENSG00000151276	ENST00000402939	T	0.15139	2.45	5.55	5.55	0.83447	.	0.072198	0.49916	D	0.000122	T	0.22820	0.0551	L	0.32530	0.975	0.80722	D	1	D	0.62365	0.991	P	0.49708	0.62	T	0.00440	-1.1738	10	0.36615	T	0.2	-2.414	19.5097	0.95137	0.0:1.0:0.0:0.0	.	1451	Q96QZ7-2	.	Q	1451	ENSP00000385450:R1451Q	ENSP00000385450:R1451Q	R	-	2	0	MAGI1	65317130	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	4.316000	0.59178	2.608000	0.88229	0.655000	0.94253	CGA		0.517	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349126.1	NM_004742		4	196	0	0	0	1	0	4	196				
APOA2	336	broad.mit.edu	37	1	161192276	161192276	+	Silent	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:161192276G>T	ENST00000367990.3	-	4	279	c.222C>A	c.(220-222)ccC>ccA	p.P74P	APOA2_ENST00000464492.1_Silent_p.P107P|APOA2_ENST00000468465.1_Silent_p.P26P|APOA2_ENST00000463812.1_Silent_p.P26P|APOA2_ENST00000491350.1_3'UTR|AL590714.1_ENST00000594609.1_Missense_Mutation_p.G71W|APOA2_ENST00000470459.2_Intron	NM_001643.1	NP_001634.1	P02652	APOA2_HUMAN	apolipoprotein A-II	74					acute inflammatory response (GO:0002526)|cellular lipid metabolic process (GO:0044255)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol import (GO:0060621)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cholesterol transporter activity (GO:0060695)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of lipase activity (GO:0060192)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|organ regeneration (GO:0031100)|peptidyl-methionine modification (GO:0018206)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid catabolic process (GO:0009395)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of lipid catabolic process (GO:0050996)|protein folding (GO:0006457)|protein oxidation (GO:0018158)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of protein stability (GO:0031647)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|viral process (GO:0016032)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein receptor binding (GO:0034190)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor binding (GO:0070653)|lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCTTGATCAGGGGTGTCAGCT	0.507																																						ENST00000594609.1																			0											c.(211-213)Ggg>Tgg									218.0	200.0	206.0					1																	161192276		2203	4300	6503	SO:0001819	synonymous_variant	336							g.chr1:161192276G>T		CCDS1226.1	1q23.3	2013-01-24			ENSG00000158874	ENSG00000158874		"""Apolipoproteins"""	601	protein-coding gene	gene with protein product		107670				2415515	Standard	NM_001643		Approved		uc001fzc.1	P02652	OTTHUMG00000034346	ENST00000367990.3:c.222C>A	1.37:g.161192276G>T			Somatic				APOA2_ENST00000367990.3_Silent_p.P74P|APOA2_ENST00000481413.1_5'UTR	p.G71W			WXS	Illumina GAIIx	Phase_I					2	211	+								B2R524	Missense_Mutation	SNP	ENST00000367990.3	37	c.211G>T	CCDS1226.1																																																																																				0.507	APOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083037.1	NM_001643		9	924	1	0	5.18039e-06	1	6.0661e-06	9	924				
HYAL1	3373	broad.mit.edu	37	3	50340148	50340148	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:50340148G>A	ENST00000266031.4	-	1	855	c.240C>T	c.(238-240)ggC>ggT	p.G80G	HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000320295.8_Silent_p.G80G|HYAL1_ENST00000457214.2_Intron|HYAL1_ENST00000395144.2_Silent_p.G80G|HYAL1_ENST00000395143.2_Silent_p.G80G			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	80					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to pH (GO:0071467)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal joint morphogenesis (GO:0060272)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|negative regulation of cell growth (GO:0030308)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of growth (GO:0045927)|positive regulation of hyaluranon cable assembly (GO:1900106)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hyaluranon cable (GO:0036117)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	hyaluronan synthase activity (GO:0050501)|hyalurononglucosaminidase activity (GO:0004415)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AGGGGTAGGTGCCCAGCTGGG	0.597																																						ENST00000266031.4																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						c.(238-240)ggC>ggT		hyaluronoglucosaminidase 1	Hyaluronidase(DB00070)						61.0	61.0	61.0					3																	50340148		2203	4300	6503	SO:0001819	synonymous_variant	3373					extracellular space|lysosome	hyalurononglucosaminidase activity	g.chr3:50340148G>A	U90094	CCDS2816.1, CCDS2817.1, CCDS46832.1, CCDS46833.1	3p21.31	2014-07-17			ENSG00000114378	ENSG00000114378	3.2.1.35		5320	protein-coding gene	gene with protein product		607071				9223416, 9409739	Standard	NM_153281		Approved	LUCA1, HYAL-1, FUS2, NAT6	uc003czp.4	Q12794	OTTHUMG00000156941	ENST00000266031.4:c.240C>T	3.37:g.50340148G>A			Somatic				HYAL1_ENST00000320295.8_Silent_p.G80G|HYAL1_ENST00000457214.2_Intron|HYAL1_ENST00000395144.2_Silent_p.G80G|HYAL1_ENST00000395143.2_Silent_p.G80G|HYAL1_ENST00000447605.2_Intron	p.G80G			WXS	Illumina GAIIx	Phase_I	Q12794	HYAL1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	1	855	-			80					Q6FH23|Q6PIZ6|Q7KYU2|Q7LE34|Q8NFK5|Q8NFK6|Q8NFK7|Q8NFK8|Q8NFK9|Q93013|Q9UKD5|Q9UNI8	Silent	SNP	ENST00000266031.4	37	c.240C>T	CCDS2816.1																																																																																				0.597	HYAL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346703.1			11	417	0	0	0	1	0	11	417				
XPO5	57510	broad.mit.edu	37	6	43515433	43515433	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:43515433T>C	ENST00000265351.7	-	19	2282	c.2072A>G	c.(2071-2073)gAt>gGt	p.D691G		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	691					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			AGCATCAACATCTGACAGCAC	0.458																																						ENST00000265351.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(2071-2073)gAt>gGt		exportin 5							96.0	91.0	93.0					6																	43515433		1961	4160	6121	SO:0001583	missense	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43515433T>C	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.2072A>G	6.37:g.43515433T>C	ENSP00000265351:p.Asp691Gly		Somatic					p.D691G	NM_020750.2	NP_065801.1	WXS	Illumina GAIIx	Phase_I	Q9HAV4	XPO5_HUMAN	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		19	2282	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		691					Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	37	c.2072A>G	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.979178	0.34942	.	.	ENSG00000124571	ENST00000265351;ENST00000436943;ENST00000372258;ENST00000439465	T	0.12465	2.68	5.69	5.69	0.88448	Armadillo-type fold (1);	0.106962	0.64402	D	0.000008	T	0.05456	0.0144	L	0.32530	0.975	0.53688	D	0.999972	B	0.06786	0.001	B	0.04013	0.001	T	0.20438	-1.0275	10	0.31617	T	0.26	-19.0848	14.5131	0.67802	0.0:0.0:0.0:1.0	.	691	Q9HAV4	XPO5_HUMAN	G	691;396;231;319	ENSP00000265351:D691G	ENSP00000265351:D691G	D	-	2	0	XPO5	43623411	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.676000	0.68131	2.162000	0.67917	0.533000	0.62120	GAT		0.458	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		5	244	0	0	0	1	0	5	244				
CLIP1	6249	broad.mit.edu	37	12	122825775	122825775	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:122825775A>T	ENST00000540338.1	-	10	2017	c.1976T>A	c.(1975-1977)cTa>cAa	p.L659Q	CLIP1_ENST00000361654.4_Missense_Mutation_p.L613Q|CLIP1_ENST00000545889.1_Missense_Mutation_p.L349Q|CLIP1_ENST00000537178.1_Missense_Mutation_p.L613Q|CLIP1_ENST00000302528.7_Missense_Mutation_p.L648Q|CLIP1_ENST00000358808.2_Missense_Mutation_p.L648Q			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	659					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTGTGTTTTTAGTTCAGCAAA	0.438																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1942-1944)cTa>cAa		CAP-GLY domain containing linker protein 1							141.0	140.0	140.0					12																	122825775		2203	4300	6503	SO:0001583	missense	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122825775A>T		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.1976T>A	12.37:g.122825775A>T	ENSP00000439093:p.Leu659Gln		Somatic				CLIP1_ENST00000545889.1_Missense_Mutation_p.L349Q|CLIP1_ENST00000302528.7_Missense_Mutation_p.L648Q|CLIP1_ENST00000540338.1_Missense_Mutation_p.L659Q|CLIP1_ENST00000537178.1_Missense_Mutation_p.L613Q|CLIP1_ENST00000361654.4_Missense_Mutation_p.L613Q	p.L648Q	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	WXS	Illumina GAIIx	Phase_I	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	10	2097	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		659					A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.1943T>A	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	A	18.26	3.585585	0.66105	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304	T;T;T;T;T;T	0.68025	2.44;0.31;0.31;0.22;0.27;-0.3	5.5	5.5	0.81552	.	0.143046	0.48767	D	0.000171	T	0.80276	0.4593	M	0.66939	2.045	0.49213	D	0.99976	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.74674	0.961;0.983;0.983;0.984	T	0.82516	-0.0418	10	0.87932	D	0	-7.5171	15.9091	0.79456	1.0:0.0:0.0:0.0	.	349;613;648;659	F5H0N7;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	Q	349;648;648;493;613;659;582	ENSP00000438743:L349Q;ENSP00000303585:L648Q;ENSP00000351665:L648Q;ENSP00000445531:L613Q;ENSP00000439093:L659Q;ENSP00000437786:L582Q	ENSP00000303585:L648Q	L	-	2	0	CLIP1	121391728	0.997000	0.39634	0.866000	0.34008	0.933000	0.57130	5.462000	0.66707	2.209000	0.71365	0.533000	0.62120	CTA		0.438	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		5	128	0	0	0	1	0	5	128				
ADAMTS9	56999	broad.mit.edu	37	3	64601642	64601642	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:64601642C>A	ENST00000498707.1	-	20	3360	c.3018G>T	c.(3016-3018)tgG>tgT	p.W1006C	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.W978C	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1006	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTACTTCAGTCCAGGCAGAAT	0.498																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(3016-3018)tgG>tgT		ADAM metallopeptidase with thrombospondin type 1 motif, 9							156.0	146.0	150.0					3																	64601642		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64601642C>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.3018G>T	3.37:g.64601642C>A	ENSP00000418735:p.Trp1006Cys		Somatic				ADAMTS9_ENST00000295903.4_Missense_Mutation_p.W978C	p.W1006C	NM_182920.1	NP_891550.1	WXS	Illumina GAIIx	Phase_I	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	20	3360	-		Lung NSC(201;0.00682)	1006			TSP type-1 4.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.3018G>T	CCDS2903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.32|19.32	3.804648|3.804648	0.70682|0.70682	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000481060|ENST00000295903;ENST00000498707	.|T;T	.|0.77489	.|-1.1;-1.1	5.69|5.69	4.81|4.81	0.61882|0.61882	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93096|0.93096	0.7802|0.7802	H|H	0.98883|0.98883	4.36|4.36	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;1.0;0.999;1.0	D|D	0.95925|0.95925	0.8934|0.8934	5|10	.|0.87932	.|D	.|0	.|.	16.1395|16.1395	0.81513|0.81513	0.1345:0.8655:0.0:0.0|0.1345:0.8655:0.0:0.0	.|.	.|978;1006;1006;1006	.|B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.|.;.;.;ATS9_HUMAN	V|C	62|978;1006	.|ENSP00000295903:W978C;ENSP00000418735:W1006C	.|ENSP00000295903:W978C	G|W	-|-	2|3	0|0	ADAMTS9|ADAMTS9	64576682|64576682	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.876000|0.876000	0.50452|0.50452	7.399000|7.399000	0.79935|0.79935	1.388000|1.388000	0.46506|0.46506	0.561000|0.561000	0.74099|0.74099	GGA|TGG		0.498	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			5	418	1	0	6.5536e-12	1	8.28341e-12	5	418				
NLGN1	22871	broad.mit.edu	37	3	173322742	173322742	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:173322742C>A	ENST00000457714.1	+	3	783	c.354C>A	c.(352-354)ccC>ccA	p.P118P	NLGN1_ENST00000361589.4_Silent_p.P118P|NLGN1_ENST00000401917.3_Silent_p.P118P|NLGN1_ENST00000545397.1_Silent_p.P118P	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	118					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.P118P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CTGTGTGTCCCCAGAATATCA	0.478																																						ENST00000457714.1																			1	Substitution - coding silent(1)	p.P118P(1)	breast(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(352-354)ccC>ccA		neuroligin 1							173.0	167.0	169.0					3																	173322742		2203	4300	6503	SO:0001819	synonymous_variant	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173322742C>A	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.354C>A	3.37:g.173322742C>A			Somatic				NLGN1_ENST00000361589.4_Silent_p.P118P|NLGN1_ENST00000545397.1_Silent_p.P118P|NLGN1_ENST00000401917.3_Silent_p.P118P	p.P118P	NM_014932.2	NP_055747.1	WXS	Illumina GAIIx	Phase_I	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		3	783	+	Ovarian(172;0.0025)		118					Q9UPT2	Silent	SNP	ENST00000457714.1	37	c.354C>A	CCDS3222.1																																																																																				0.478	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		5	391	1	0	0.014758	1	0.0155779	5	391				
EPHA5	2044	broad.mit.edu	37	4	66467884	66467884	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:66467884C>A	ENST00000273854.3	-	3	985	c.385G>T	c.(385-387)Gaa>Taa	p.E129*	EPHA5_ENST00000354839.4_Nonsense_Mutation_p.E129*|EPHA5_ENST00000511294.1_Nonsense_Mutation_p.E129*|EPHA5_ENST00000432638.2_Nonsense_Mutation_p.E129*	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	129	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AATTTGAGTTCTATGAAGATT	0.423										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(385-387)Gaa>Taa		EPH receptor A5							88.0	93.0	91.0					4																	66467884		2203	4300	6503	SO:0001587	stop_gained	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66467884C>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.385G>T	4.37:g.66467884C>A	ENSP00000273854:p.Glu129*	TSP Lung(17;0.13)	Somatic				EPHA5_ENST00000511294.1_Nonsense_Mutation_p.E129*|EPHA5_ENST00000354839.4_Nonsense_Mutation_p.E129*|EPHA5_ENST00000432638.2_Nonsense_Mutation_p.E129*	p.E129*	NM_004439.5	NP_004430.4	WXS	Illumina GAIIx	Phase_I	P54756	EPHA5_HUMAN			3	985	-			129					Q7Z3F2	Nonsense_Mutation	SNP	ENST00000273854.3	37	c.385G>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	43	10.349019	0.99388	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	.	.	.	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7821	0.96420	0.0:1.0:0.0:0.0	.	.	.	.	X	129	.	ENSP00000273854:E129X	E	-	1	0	EPHA5	66150479	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.818000	0.86416	2.682000	0.91365	0.655000	0.94253	GAA		0.423	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		35	135	1	0	1.07637e-12	1	1.37225e-12	35	135				
EDNRB	1910	broad.mit.edu	37	13	78492255	78492255	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr13:78492255C>T	ENST00000334286.5	-	1	690	c.454G>A	c.(454-456)Gtc>Atc	p.V152I	EDNRB_ENST00000377211.4_Missense_Mutation_p.V242I|RNF219-AS1_ENST00000607862.1_RNA|EDNRB_ENST00000446573.1_Missense_Mutation_p.V152I|EDNRB_ENST00000475537.1_5'Flank	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	152					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	ATGTCAATGACGATGTGCAGC	0.507																																						ENST00000377211.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42						c.(724-726)Gtc>Atc		endothelin receptor type B	Bosentan(DB00559)						127.0	119.0	122.0					13																	78492255		2203	4300	6503	SO:0001583	missense	1910				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	g.chr13:78492255C>T	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.454G>A	13.37:g.78492255C>T	ENSP00000335311:p.Val152Ile		Somatic				EDNRB_ENST00000446573.1_Missense_Mutation_p.V152I|EDNRB_ENST00000334286.5_Missense_Mutation_p.V152I	p.V242I	NM_001201397.1	NP_001188326.1	WXS	Illumina GAIIx	Phase_I	P24530	EDNRB_HUMAN		GBM - Glioblastoma multiforme(99;0.0933)	2	876	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	152					A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	ENST00000334286.5	37	c.724G>A	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	C	7.470	0.646472	0.14451	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.37058	1.22;1.22;1.22	5.05	-10.1	0.00402	GPCR, rhodopsin-like superfamily (1);	0.331356	0.35096	N	0.003460	T	0.12008	0.0292	N	0.13003	0.285	0.21740	N	0.99957	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.11329	0.001;0.004;0.006	T	0.39440	-0.9614	10	0.05351	T	0.99	-0.9619	11.3327	0.49485	0.0:0.5074:0.1014:0.3912	.	152;242;152	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	I	242;152;152	ENSP00000366416:V242I;ENSP00000403401:V152I;ENSP00000335311:V152I	ENSP00000335311:V152I	V	-	1	0	EDNRB	77390256	0.003000	0.15002	0.436000	0.26797	0.865000	0.49528	-1.297000	0.02759	-1.363000	0.02164	-1.202000	0.01658	GTC		0.507	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			11	364	0	0	0	1	0	11	364				
CHIA	27159	broad.mit.edu	37	1	111857217	111857217	+	Splice_Site	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:111857217C>T	ENST00000369740.1	+	5	416	c.313C>T	c.(313-315)Cct>Tct	p.P105S	CHIA_ENST00000430615.1_5'UTR|CHIA_ENST00000483391.1_5'UTR|CHIA_ENST00000353665.6_5'UTR|CHIA_ENST00000343320.6_Splice_Site_p.P105S|CHIA_ENST00000451398.2_5'UTR	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	105					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CGGGACTGCCCCGTAAGTCTT	0.453																																						ENST00000369740.1																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23						c.e5+1		chitinase, acidic							106.0	103.0	104.0					1																	111857217		1878	4109	5987	SO:0001630	splice_region_variant	27159				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	g.chr1:111857217C>T	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.314+1C>T	1.37:g.111857217C>T			Somatic				CHIA_ENST00000430615.1_5'UTR|CHIA_ENST00000343320.6_Splice_Site_p.P105_splice|CHIA_ENST00000353665.6_5'UTR|CHIA_ENST00000483391.1_5'UTR|CHIA_ENST00000451398.2_5'UTR	p.P105_splice	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	WXS	Illumina GAIIx	Phase_I	Q9BZP6	CHIA_HUMAN		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)	5	416	+		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)	105					Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Splice_Site	SNP	ENST00000369740.1	37	c.314_splice	CCDS41368.1	.	.	.	.	.	.	.	.	.	.	C	9.936	1.216289	0.22373	.	.	ENSG00000134216	ENST00000422815;ENST00000369740;ENST00000343320	T;T;T	0.05199	3.48;3.48;3.48	4.56	2.51	0.30379	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.687162	0.12992	N	0.422413	T	0.02455	0.0075	L	0.46819	1.47	0.80722	D	1	B	0.19445	0.036	B	0.19946	0.027	T	0.21895	-1.0232	10	0.39692	T	0.17	-1.1577	7.0651	0.25147	0.1699:0.7344:0.0:0.0957	.	105	Q9BZP6	CHIA_HUMAN	S	49;105;105	ENSP00000387671:P49S;ENSP00000358755:P105S;ENSP00000341828:P105S	ENSP00000341828:P105S	P	+	1	0	CHIA	111658740	0.002000	0.14202	0.990000	0.47175	0.355000	0.29361	0.472000	0.22116	1.029000	0.39812	0.462000	0.41574	CCT		0.453	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1		Missense_Mutation	11	32	0	0	0	1	0	11	32				
NCR1	9437	broad.mit.edu	37	19	55420787	55420787	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:55420787T>C	ENST00000291890.4	+	4	577	c.539T>C	c.(538-540)gTg>gCg	p.V180A	NCR1_ENST00000598576.1_Missense_Mutation_p.V168A|NCR1_ENST00000338835.5_Missense_Mutation_p.V180A|NCR1_ENST00000357397.5_Missense_Mutation_p.V73A|NCR1_ENST00000447255.1_Missense_Mutation_p.V180A|NCR1_ENST00000350790.5_Missense_Mutation_p.V85A|NCR1_ENST00000594765.1_Missense_Mutation_p.V180A	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	180	Ig-like 2.				cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CTGGGCCCTGTGACCACAGCC	0.577																																						ENST00000594765.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(538-540)gTg>gCg		natural cytotoxicity triggering receptor 1							91.0	86.0	88.0					19																	55420787		2203	4300	6503	SO:0001583	missense	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55420787T>C	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.539T>C	19.37:g.55420787T>C	ENSP00000291890:p.Val180Ala		Somatic				NCR1_ENST00000357397.5_Missense_Mutation_p.V73A|NCR1_ENST00000291890.4_Missense_Mutation_p.V180A|NCR1_ENST00000447255.1_Missense_Mutation_p.V180A|NCR1_ENST00000598576.1_Missense_Mutation_p.V168A|NCR1_ENST00000338835.5_Missense_Mutation_p.V180A|NCR1_ENST00000350790.5_Missense_Mutation_p.V85A	p.V180A			WXS	Illumina GAIIx	Phase_I	O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	4	564	+			180			Ig-like 2.		B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	c.539T>C	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.820211	0.50633	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835;ENST00000350790;ENST00000357397	T;T;T;T;T	0.05319	3.46;3.46;3.46;3.46;3.46	3.53	2.51	0.30379	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.313150	0.23129	N	0.051620	T	0.16128	0.0388	M	0.62088	1.915	0.09310	N	1	D;D;D;D;D;D	0.76494	0.998;0.999;0.998;0.999;0.997;0.987	D;D;D;D;D;D	0.79784	0.982;0.983;0.977;0.99;0.993;0.969	T	0.04029	-1.0983	10	0.40728	T	0.16	.	5.4913	0.16777	0.0:0.1281:0.0:0.8719	.	73;85;180;85;180;180	O76036-5;B0V3L4;B0V3L5;B0V3L2;O76036-6;O76036	.;.;.;.;.;NCTR1_HUMAN	A	180;180;180;85;73	ENSP00000291890:V180A;ENSP00000404434:V180A;ENSP00000339515:V180A;ENSP00000344358:V85A;ENSP00000349972:V73A	ENSP00000291890:V180A	V	+	2	0	NCR1	60112599	0.803000	0.28956	0.010000	0.14722	0.189000	0.23516	2.685000	0.46959	0.735000	0.32537	0.482000	0.46254	GTG		0.577	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			4	139	0	0	0	1	0	4	139				
PLCB4	5332	broad.mit.edu	37	20	9424630	9424630	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:9424630A>T	ENST00000378493.1	+	27	2746	c.2731A>T	c.(2731-2733)Att>Ttt	p.I911F	PLCB4_ENST00000414679.2_Missense_Mutation_p.I923F|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.I923F|PLCB4_ENST00000378501.2_Missense_Mutation_p.I911F|PLCB4_ENST00000278655.4_Missense_Mutation_p.I911F|PLCB4_ENST00000334005.3_Missense_Mutation_p.I911F			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	911					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTGTTTAGGTATTGAACTTAT	0.313																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(2731-2733)Att>Ttt		phospholipase C, beta 4							101.0	100.0	101.0					20																	9424630		2203	4298	6501	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9424630A>T		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2731A>T	20.37:g.9424630A>T	ENSP00000367754:p.Ile911Phe		Somatic				PLCB4_ENST00000278655.4_Missense_Mutation_p.I911F|PLCB4_ENST00000414679.2_Missense_Mutation_p.I923F|PLCB4_ENST00000378473.3_Missense_Mutation_p.I923F|PLCB4_ENST00000378493.1_Missense_Mutation_p.I911F|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.I911F	p.I911F	NM_000933.3	NP_000924.3	WXS	Illumina GAIIx	Phase_I	Q15147	PLCB4_HUMAN			27	2746	+			911					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.2731A>T	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	A	13.65	2.301099	0.40694	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.61392	2.14;2.15;0.11;0.11;2.14;1.96	5.56	5.56	0.83823	.	0.361157	0.31323	N	0.007852	T	0.41026	0.1141	N	0.08118	0	0.51767	D	0.999936	B;B;P;B	0.37176	0.0;0.04;0.586;0.0	B;B;B;B	0.38378	0.002;0.013;0.272;0.003	T	0.44832	-0.9302	10	0.40728	T	0.16	.	15.7086	0.77606	1.0:0.0:0.0:0.0	.	923;758;911;911	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	F	911;923;911;911;911;759	ENSP00000334105:I911F;ENSP00000367734:I923F;ENSP00000278655:I911F;ENSP00000367754:I911F;ENSP00000367762:I911F;ENSP00000390616:I759F	ENSP00000278655:I911F	I	+	1	0	PLCB4	9372630	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.465000	0.53064	2.113000	0.64589	0.528000	0.53228	ATT		0.313	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			4	131	0	0	0	1	0	4	131				
GRSF1	2926	broad.mit.edu	37	4	71691150	71691150	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:71691150T>A	ENST00000254799.6	-	8	1375		c.e8-2		GRSF1_ENST00000439371.1_Splice_Site|GRSF1_ENST00000502323.1_Splice_Site|GRSF1_ENST00000545193.1_Splice_Site|GRSF1_ENST00000508091.1_Intron	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1						anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			AGCAAAAAACTAAACGACAAA	0.443																																						ENST00000254799.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17						c.e8-2		G-rich RNA sequence binding factor 1							58.0	53.0	55.0					4																	71691150		1924	4141	6065	SO:0001630	splice_region_variant	2926				mRNA polyadenylation		mRNA binding|nucleotide binding	g.chr4:71691150T>A	BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"""RNA binding motif (RRM) containing"""	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.1258-2A>T	4.37:g.71691150T>A			Somatic				GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000439371.1_Splice_Site|GRSF1_ENST00000502323.1_Splice_Site|GRSF1_ENST00000545193.1_Splice_Site		NM_002092.3	NP_002083.3	WXS	Illumina GAIIx	Phase_I	Q12849	GRSF1_HUMAN	Lung(101;0.235)		8	1375	-		all_hematologic(202;0.21)						B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Splice_Site	SNP	ENST00000254799.6	37		CCDS47069.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.053757	0.75960	.	.	ENSG00000132463	ENST00000254799;ENST00000439371;ENST00000540657;ENST00000499044;ENST00000502323;ENST00000514161;ENST00000545193	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.644	0.77033	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GRSF1	71910014	1.000000	0.71417	0.988000	0.46212	0.800000	0.45204	7.761000	0.85260	2.102000	0.63906	0.459000	0.35465	.		0.443	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1	NM_002092	Intron	6	255	0	0	0	1	0	6	255				
ADCY8	114	broad.mit.edu	37	8	131896926	131896926	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:131896926C>T	ENST00000286355.5	-	8	4085	c.1993G>A	c.(1993-1995)Gag>Aag	p.E665K	ADCY8_ENST00000377928.3_Missense_Mutation_p.E665K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	665					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTAATTTCCTCAGGCCCAGAC	0.438										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1993-1995)Gag>Aag		adenylate cyclase 8 (brain)							153.0	146.0	148.0					8																	131896926		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131896926C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1993G>A	8.37:g.131896926C>T	ENSP00000286355:p.Glu665Lys	HNSCC(32;0.087)	Somatic				ADCY8_ENST00000377928.3_Missense_Mutation_p.E665K	p.E665K	NM_001115.2	NP_001106.1	WXS	Illumina GAIIx	Phase_I	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		8	4085	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		665						Missense_Mutation	SNP	ENST00000286355.5	37	c.1993G>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823683	0.71143	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	D;D	0.81659	-1.52;-1.52	6.02	6.02	0.97574	.	0.095518	0.64402	D	0.000001	T	0.75140	0.3809	L	0.29908	0.895	0.45250	D	0.998259	B;B	0.26445	0.149;0.053	B;B	0.32211	0.142;0.032	T	0.68044	-0.5513	10	0.23891	T	0.37	.	19.5289	0.95219	0.0:1.0:0.0:0.0	.	665;665	E7EVL1;P40145	.;ADCY8_HUMAN	K	665	ENSP00000286355:E665K;ENSP00000367161:E665K	ENSP00000286355:E665K	E	-	1	0	ADCY8	131966108	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.437000	0.66544	2.865000	0.98341	0.655000	0.94253	GAG		0.438	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			4	258	0	0	0	1	0	4	258				
CYP27A1	1593	broad.mit.edu	37	2	219677361	219677361	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:219677361G>A	ENST00000258415.4	+	4	1160	c.733G>A	c.(733-735)Ggg>Agg	p.G245R		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	245					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	CAGATCCATCGGGTTAATGTT	0.542																																						ENST00000258415.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26						c.(733-735)Ggg>Agg		cytochrome P450, family 27, subfamily A, polypeptide 1	Cholecalciferol(DB00169)						293.0	279.0	283.0					2																	219677361		2203	4300	6503	SO:0001583	missense	1593				bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding	g.chr2:219677361G>A	BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"""Cytochrome P450s"""	2605	protein-coding gene	gene with protein product	"""cerebrotendinous xanthomatosis"""	606530	"""cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"""	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.733G>A	2.37:g.219677361G>A	ENSP00000258415:p.Gly245Arg		Somatic					p.G245R	NM_000784.3	NP_000775.1	WXS	Illumina GAIIx	Phase_I	Q02318	CP27A_HUMAN		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	4	1160	+		Renal(207;0.0474)	245					A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	ENST00000258415.4	37	c.733G>A	CCDS2423.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638949	0.47153	.	.	ENSG00000135929	ENST00000258415;ENST00000411688	T;T	0.68331	-0.32;-0.32	6.15	5.26	0.73747	.	0.687740	0.15167	N	0.276843	T	0.70527	0.3234	L	0.58428	1.81	0.09310	N	1	D	0.59767	0.986	P	0.52758	0.708	T	0.62695	-0.6800	10	0.46703	T	0.11	-13.3933	9.5132	0.39089	0.0802:0.1812:0.7386:0.0	.	245	Q02318	CP27A_HUMAN	R	245;151	ENSP00000258415:G245R;ENSP00000392671:G151R	ENSP00000258415:G245R	G	+	1	0	CYP27A1	219385605	0.163000	0.22920	0.017000	0.16124	0.140000	0.21249	2.817000	0.48034	1.510000	0.48803	0.643000	0.83706	GGG		0.542	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4			5	641	0	0	0	1	0	5	641				
SMARCA4	6597	broad.mit.edu	37	19	11137010	11137010	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:11137010G>A	ENST00000429416.3	+	24	3484	c.3203G>A	c.(3202-3204)gGc>gAc	p.G1068D	SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1068D|SMARCA4_ENST00000358026.2_Missense_Mutation_p.G1068D|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1068D|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1068D|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1068D|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1068D|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1068D|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1068D	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1068					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTCACTGGCGGCATTGTCCAA	0.592			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(3202-3204)gGc>gAc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							81.0	69.0	73.0					19																	11137010		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11137010G>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3203G>A	19.37:g.11137010G>A	ENSP00000395654:p.Gly1068Asp		Somatic				SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1068D|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1068D|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G1068D|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1068D|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1068D|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1068D|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1068D|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1068D	p.G1068D	NM_001128849.1	NP_001122321.1	WXS	Illumina GAIIx	Phase_I	P51532	SMCA4_HUMAN			23	3487	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1068					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3203G>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709455	0.48517	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85;-0.85;-0.85	4.49	4.49	0.54785	.	0.060357	0.64402	D	0.000003	T	0.75606	0.3872	L	0.61036	1.89	0.58432	D	0.999999	P;P;P;B;P;P;B;B	0.45396	0.738;0.857;0.738;0.003;0.738;0.613;0.384;0.384	B;P;B;B;B;B;B;B	0.44811	0.382;0.461;0.382;0.008;0.382;0.288;0.273;0.273	T	0.80233	-0.1467	10	0.66056	D	0.02	-29.5641	16.1707	0.81812	0.0:0.0:1.0:0.0	.	1068;1068;1068;1068;1068;288;1068;1068	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	D	1068;1068;1132;1068;1068;1068;1068;1068	ENSP00000395654:G1068D;ENSP00000350720:G1068D;ENSP00000343896:G1068D;ENSP00000445036:G1068D;ENSP00000392837:G1068D;ENSP00000397783:G1068D;ENSP00000414727:G1068D	ENSP00000343896:G1068D	G	+	2	0	SMARCA4	10998010	1.000000	0.71417	0.998000	0.56505	0.519000	0.34347	9.104000	0.94239	2.351000	0.79841	0.555000	0.69702	GGC		0.592	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		3	107	0	0	0	1	0	3	107				
FOXJ2	55810	broad.mit.edu	37	12	8196343	8196343	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:8196343G>T	ENST00000162391.3	+	4	1600	c.455G>T	c.(454-456)aGa>aTa	p.R152I	FOXJ2_ENST00000428177.2_Missense_Mutation_p.R152I	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	152					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TCCCGAAAGAGAAGACACCCT	0.483																																						ENST00000162391.3																			0				autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16						c.(454-456)aGa>aTa		forkhead box J2							172.0	167.0	169.0					12																	8196343		2203	4300	6503	SO:0001583	missense	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr12:8196343G>T	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.455G>T	12.37:g.8196343G>T	ENSP00000162391:p.Arg152Ile		Somatic				FOXJ2_ENST00000428177.2_Missense_Mutation_p.R152I	p.R152I	NM_018416.2	NP_060886.1	WXS	Illumina GAIIx	Phase_I	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	4	1600	+			152					A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	c.455G>T	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984933	0.74474	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.96168	-3.7;-3.93	5.05	4.15	0.48705	Transcription factor, fork head (1);	0.157695	0.44483	D	0.000443	D	0.90703	0.7083	L	0.27053	0.805	0.58432	D	0.999998	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	D	0.86669	0.1909	10	0.62326	D	0.03	.	10.8945	0.47015	0.0:0.0:0.8122:0.1878	.	152;152	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	I	152	ENSP00000162391:R152I;ENSP00000403411:R152I	ENSP00000162391:R152I	R	+	2	0	FOXJ2	8087610	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.660000	0.54496	1.100000	0.41517	0.561000	0.74099	AGA		0.483	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		5	638	1	0	0.0293803	1	0.0306284	5	638				
SNHG14	104472715	broad.mit.edu	37	15	25304766	25304766	+	RNA	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:25304766G>A	ENST00000549804.2	+	0	159				SNORD116-5_ENST00000384462.1_RNA|SNORD116-3_ENST00000384287.1_RNA|SNHG14_ENST00000384733.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		GTCGTTCTCAGCGGAACTGAG	0.517																																						ENST00000549804.2																			0																				168.0	154.0	158.0					15																	25304766		876	1991	2867			104472715							g.chr15:25304766G>A			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.25304766G>A			Somatic				SNHG14_ENST00000384733.1_RNA				WXS	Illumina GAIIx	Phase_I					0	159	+									RNA	SNP	ENST00000549804.2	37																																																																																						0.517	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			4	350	0	0	0	1	0	4	350				
USP34	9736	broad.mit.edu	37	2	61417421	61417421	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:61417421A>G	ENST00000398571.2	-	78	9934	c.9858T>C	c.(9856-9858)agT>agC	p.S3286S	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3286					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTAAAGAAGCACTTGCTTTGG	0.408																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(9856-9858)agT>agC		ubiquitin specific peptidase 34							127.0	118.0	121.0					2																	61417421		1834	4096	5930	SO:0001819	synonymous_variant	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61417421A>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.9858T>C	2.37:g.61417421A>G			Somatic					p.S3286S	NM_014709.3	NP_055524.3	WXS	Illumina GAIIx	Phase_I	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		78	9934	-			3286					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	c.9858T>C	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	.	8.356	0.832019	0.16820	.	.	ENSG00000115464	ENST00000411912	.	.	.	5.63	4.48	0.54585	.	.	.	.	.	T	0.58637	0.2136	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55573	-0.8120	4	.	.	.	.	8.0869	0.30777	0.773:0.0:0.227:0.0	.	.	.	.	R	963	.	.	C	-	1	0	USP34	61270925	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.995000	0.49441	1.083000	0.41159	-0.254000	0.11334	TGC		0.408	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			8	410	0	0	0	1	0	8	410				
MSH4	4438	broad.mit.edu	37	1	76276447	76276447	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:76276447G>A	ENST00000263187.3	+	4	758	c.654G>A	c.(652-654)gtG>gtA	p.V218V		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	218					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CTTGTGCTGTGGGGAATTCCA	0.284								Mismatch excision repair (MMR)																														ENST00000263187.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(652-654)gtG>gtA	Mismatch excision repair (MMR)	mutS homolog 4							73.0	75.0	74.0					1																	76276447		2203	4298	6501	SO:0001819	synonymous_variant	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76276447G>A	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.654G>A	1.37:g.76276447G>A			Somatic					p.V218V	NM_002440.3	NP_002431.2	WXS	Illumina GAIIx	Phase_I	O15457	MSH4_HUMAN			4	758	+			218					Q5T4U6|Q8NEB3|Q9UNP8	Silent	SNP	ENST00000263187.3	37	c.654G>A	CCDS670.1																																																																																				0.284	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		3	52	0	0	0	1	0	3	52				
FLVCR2	55640	broad.mit.edu	37	14	76088498	76088498	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:76088498A>G	ENST00000238667.4	+	2	1102	c.746A>G	c.(745-747)cAc>cGc	p.H249R	FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000553587.1_5'UTR|FLVCR2_ENST00000539311.1_Missense_Mutation_p.H44R|FLVCR2_ENST00000556856.1_5'UTR	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	249					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CTTGCCTACCACATCAGCATC	0.478																																						ENST00000238667.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(745-747)cAc>cGc		feline leukemia virus subgroup C cellular receptor family, member 2							244.0	219.0	227.0					14																	76088498		2203	4300	6503	SO:0001583	missense	55640				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	g.chr14:76088498A>G	AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.746A>G	14.37:g.76088498A>G	ENSP00000238667:p.His249Arg		Somatic				FLVCR2_ENST00000539311.1_Missense_Mutation_p.H44R|FLVCR2_ENST00000556856.1_5'UTR|FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000553587.1_5'UTR	p.H249R	NM_017791.2	NP_060261.2	WXS	Illumina GAIIx	Phase_I	Q9UPI3	FLVC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	2	1102	+			249					B7Z485|Q53ZT9|Q96JY3|Q9NX90	Missense_Mutation	SNP	ENST00000238667.4	37	c.746A>G	CCDS9844.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.124549	0.56613	.	.	ENSG00000119686	ENST00000238667;ENST00000539311	T;T	0.58652	0.32;0.32	5.86	5.86	0.93980	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.045313	0.85682	D	0.000000	T	0.56615	0.1997	M	0.68952	2.095	0.80722	D	1	B;B	0.18741	0.03;0.007	B;B	0.22152	0.038;0.026	T	0.52888	-0.8515	10	0.20046	T	0.44	-4.986	15.2278	0.73364	1.0:0.0:0.0:0.0	.	44;249	B7Z485;Q9UPI3	.;FLVC2_HUMAN	R	249;44	ENSP00000238667:H249R;ENSP00000443439:H44R	ENSP00000238667:H249R	H	+	2	0	AC007182.1	75158251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.414000	0.90238	2.241000	0.73720	0.533000	0.62120	CAC		0.478	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791		8	783	0	0	0	1	0	8	783				
GRM7	2917	broad.mit.edu	37	3	7620404	7620404	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:7620404C>T	ENST00000357716.4	+	8	2085	c.1811C>T	c.(1810-1812)gCc>gTc	p.A604V	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Missense_Mutation_p.A604V|GRM7_ENST00000486284.1_Missense_Mutation_p.A604V|GRM7_ENST00000389336.4_Missense_Mutation_p.A604V|GRM7_ENST00000402647.2_Missense_Mutation_p.A604V	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	604					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						GGGATCATTGCCACCATCTTT	0.522																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(1810-1812)gCc>gTc		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						103.0	107.0	106.0					3																	7620404		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7620404C>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1811C>T	3.37:g.7620404C>T	ENSP00000350348:p.Ala604Val		Somatic				GRM7_ENST00000389336.4_Missense_Mutation_p.A604V|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Missense_Mutation_p.A604V|GRM7_ENST00000357716.4_Missense_Mutation_p.A604V|GRM7_ENST00000403881.1_Missense_Mutation_p.A604V	p.A604V	NM_181874.2	NP_870989.1	WXS	Illumina GAIIx	Phase_I	Q14831	GRM7_HUMAN			8	2085	+			604					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.1811C>T	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867160	0.72065	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36	5.93	5.93	0.95920	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92391	0.7585	L	0.54323	1.7	0.80722	D	1	B;D;D;D;B	0.76494	0.356;0.996;0.999;0.997;0.313	P;D;D;D;B	0.83275	0.549;0.98;0.996;0.989;0.23	D	0.87943	0.2718	10	0.09843	T	0.71	.	18.9177	0.92512	0.0:1.0:0.0:0.0	.	604;604;359;604;604	B7ZKK0;Q14831-5;Q59G95;Q14831;Q14831-2	.;.;.;GRM7_HUMAN;.	V	604	ENSP00000350348:A604V;ENSP00000417536:A604V;ENSP00000373987:A604V;ENSP00000385664:A604V;ENSP00000384585:A604V	ENSP00000350348:A604V	A	+	2	0	GRM7	7595404	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.094000	0.71431	2.826000	0.97356	0.655000	0.94253	GCC		0.522	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		4	122	0	0	0	1	0	4	122				
DLEC1	9940	broad.mit.edu	37	3	38158135	38158135	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:38158135G>A	ENST00000308059.6	+	28	4069	c.4048G>A	c.(4048-4050)Gaa>Aaa	p.E1350K	DLEC1_ENST00000346219.3_Missense_Mutation_p.E1350K|DLEC1_ENST00000452631.2_Missense_Mutation_p.E1353K					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ATTCAGCCATGAAACTGACTC	0.627																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(4048-4050)Gaa>Aaa		deleted in lung and esophageal cancer 1							57.0	57.0	57.0					3																	38158135		1949	4133	6082	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38158135G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.4048G>A	3.37:g.38158135G>A	ENSP00000308597:p.Glu1350Lys		Somatic				DLEC1_ENST00000346219.3_Missense_Mutation_p.E1350K|DLEC1_ENST00000452631.2_Missense_Mutation_p.E1353K	p.E1350K			WXS	Illumina GAIIx	Phase_I	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	28	4069	+			1350						Missense_Mutation	SNP	ENST00000308059.6	37	c.4048G>A	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	3.880	-0.026197	0.07589	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05319	3.48;3.46;3.7	4.65	2.82	0.32997	.	1.823620	0.02868	N	0.131149	T	0.05547	0.0146	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.10296	0.001;0.001;0.003;0.001	B;B;B;B	0.08055	0.003;0.002;0.003;0.003	T	0.43702	-0.9375	10	0.06236	T	0.91	0.0041	6.9323	0.24447	0.2229:0.0:0.7771:0.0	.	1353;1350;1350;1350	F8W6T4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	K	1350;1350;1353	ENSP00000308597:E1350K;ENSP00000315914:E1350K;ENSP00000410427:E1353K	ENSP00000308597:E1350K	E	+	1	0	DLEC1	38133139	0.001000	0.12720	0.002000	0.10522	0.073000	0.16967	0.789000	0.26886	0.483000	0.27608	0.313000	0.20887	GAA		0.627	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		4	165	0	0	0	1	0	4	165				
KLHL40	131377	broad.mit.edu	37	3	42730412	42730412	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:42730412G>A	ENST00000287777.4	+	4	1573	c.1473G>A	c.(1471-1473)aaG>aaA	p.K491K		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	491					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											TTGAGTGGAAGGAGCTGGCAC	0.607																																						ENST00000287777.4																			0											c.(1471-1473)aaG>aaA		kelch-like family member 40							75.0	74.0	74.0					3																	42730412		2203	4300	6503	SO:0001819	synonymous_variant	131377							g.chr3:42730412G>A	AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"""Kelch-like"", ""BTB/POZ domain containing"""	30372	protein-coding gene	gene with protein product	"""sarcosynapsin"", ""nemaline myopathy type 8"""	615340	"""kelch repeat and BTB (POZ) domain containing 5"", ""kelch-like 40 (Drosophila)"""	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.1473G>A	3.37:g.42730412G>A			Somatic					p.K491K	NM_152393.2	NP_689606.2	WXS	Illumina GAIIx	Phase_I					4	1573	+								Q86SI1|Q96MR2	Silent	SNP	ENST00000287777.4	37	c.1473G>A	CCDS2703.1																																																																																				0.607	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		4	163	0	0	0	1	0	4	163				
ACAD9	28976	broad.mit.edu	37	3	128623348	128623348	+	Splice_Site	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:128623348G>T	ENST00000308982.7	+	11	1230	c.1149G>T	c.(1147-1149)aaG>aaT	p.K383N	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	383						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CCATGGTGAAGGTAACCCTGG	0.567																																						ENST00000308982.7																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						c.e11+1		acyl-CoA dehydrogenase family, member 9							42.0	37.0	39.0					3																	128623348		2203	4300	6503	SO:0001630	splice_region_variant	28976					mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:128623348G>T	AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"""Mitochondrial respiratory chain complex assembly factors"""	21497	protein-coding gene	gene with protein product		611103	"""acyl-Coenzyme A dehydrogenase family, member 9"""			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.1149+1G>T	3.37:g.128623348G>T			Somatic				ACAD9_ENST00000511526.1_3'UTR	p.K383_splice	NM_014049.4	NP_054768.2	WXS	Illumina GAIIx	Phase_I	Q9H845	ACAD9_HUMAN			11	1230	+			383					D3DNB8|Q8WXX3	Splice_Site	SNP	ENST00000308982.7	37	c.1149_splice	CCDS3053.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846556	0.91277	.	.	ENSG00000177646	ENST00000308982;ENST00000334167	D	0.99545	-6.13	5.7	5.7	0.88788	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	H	0.99273	4.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.96660	0.9488	10	0.87932	D	0	.	17.3409	0.87296	0.0:0.0:1.0:0.0	.	260;383	Q9H9W4;Q9H845	.;ACAD9_HUMAN	N	383;250	ENSP00000312618:K383N	ENSP00000312618:K383N	K	+	3	2	ACAD9	130106038	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.009000	0.76347	2.688000	0.91661	0.655000	0.94253	AAG		0.567	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358405.1	NM_014049	Missense_Mutation	3	101	1	0	0.014758	1	0.0155779	3	101				
SLC5A11	115584	broad.mit.edu	37	16	24887048	24887048	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:24887048T>C	ENST00000347898.3	+	6	1095	c.473T>C	c.(472-474)aTc>aCc	p.I158T	SLC5A11_ENST00000565769.1_Missense_Mutation_p.I94T|SLC5A11_ENST00000569071.1_Missense_Mutation_p.I94T|SLC5A11_ENST00000568579.1_Intron|SLC5A11_ENST00000424767.2_Intron|SLC5A11_ENST00000545376.1_Intron|SLC5A11_ENST00000539472.1_Missense_Mutation_p.I94T|SLC5A11_ENST00000567758.1_Intron|SLC5A11_ENST00000449109.2_Missense_Mutation_p.I94T	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TTCACCAAGATCTCGGTAAGG	0.527																																						ENST00000347898.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49						c.(472-474)aTc>aCc		solute carrier family 5 (sodium/inositol cotransporter), member 11							110.0	88.0	95.0					16																	24887048		2197	4300	6497	SO:0001583	missense	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24887048T>C	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.473T>C	16.37:g.24887048T>C	ENSP00000289932:p.Ile158Thr		Somatic				SLC5A11_ENST00000449109.2_Missense_Mutation_p.I94T|SLC5A11_ENST00000568579.1_Intron|SLC5A11_ENST00000539472.1_Missense_Mutation_p.I94T|SLC5A11_ENST00000569071.1_Missense_Mutation_p.I94T|SLC5A11_ENST00000567758.1_Intron|SLC5A11_ENST00000545376.1_Intron|SLC5A11_ENST00000565769.1_Missense_Mutation_p.I94T|SLC5A11_ENST00000424767.2_Intron	p.I158T	NM_052944.3	NP_443176.2	WXS	Illumina GAIIx	Phase_I	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	6	1095	+			158						Missense_Mutation	SNP	ENST00000347898.3	37	c.473T>C	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.031057	0.75504	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000539472	D;D;D	0.89415	-2.51;-2.51;-2.51	4.28	4.28	0.50868	.	0.048543	0.85682	D	0.000000	D	0.92880	0.7735	M	0.72479	2.2	0.80722	D	1	D;D	0.76494	0.962;0.999	P;D	0.72625	0.805;0.978	D	0.93016	0.6436	10	0.62326	D	0.03	.	11.3541	0.49605	0.0:0.0:0.0:1.0	.	158;94	Q8WWX8;Q05BF1	SC5AB_HUMAN;.	T	158;94;94	ENSP00000289932:I158T;ENSP00000389606:I94T;ENSP00000441018:I94T	ENSP00000289932:I158T	I	+	2	0	SLC5A11	24794549	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.070000	0.76763	1.564000	0.49628	0.459000	0.35465	ATC		0.527	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		4	375	0	0	0	1	0	4	375				
DLG5	9231	broad.mit.edu	37	10	79553848	79553848	+	Silent	SNP	C	C	T	rs538641768		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:79553848C>T	ENST00000372391.2	-	31	5579	c.5574G>A	c.(5572-5574)agG>agA	p.R1858R	DLG5_ENST00000459739.1_5'UTR|RP13-39P12.3_ENST00000434097.2_RNA|RP13-39P12.3_ENST00000601701.1_RNA|DLG5_ENST00000372388.2_Silent_p.R1518R	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1858	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCACCTTGTCCCTCAGGTAGA	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		19945	0.0		0.0	False		,,,				2504	0.001					ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(5572-5574)agG>agA		discs, large homolog 5 (Drosophila)							235.0	192.0	206.0					10																	79553848		2203	4300	6503	SO:0001819	synonymous_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79553848C>T	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.5574G>A	10.37:g.79553848C>T			Somatic				DLG5_ENST00000372388.2_Silent_p.R1518R|DLG5_ENST00000459739.1_5'UTR	p.R1858R	NM_004747.3	NP_004738.3	WXS	Illumina GAIIx	Phase_I	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		31	5579	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1858			Guanylate kinase-like.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	c.5574G>A	CCDS7353.2																																																																																				0.592	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			7	838	0	0	0	1	0	7	838				
TGFBR3	7049	broad.mit.edu	37	1	92182267	92182267	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:92182267T>A	ENST00000525962.1	-	10	1628		c.e10-2		TGFBR3_ENST00000370399.2_Splice_Site|TGFBR3_ENST00000212355.4_Splice_Site			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III						blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TATCACAATCTAAAAGGCAAA	0.423																																						ENST00000212355.4																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55						c.e11-2		transforming growth factor, beta receptor III							197.0	207.0	204.0					1																	92182267		2203	4300	6503	SO:0001630	splice_region_variant	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92182267T>A	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1567-2A>T	1.37:g.92182267T>A			Somatic				TGFBR3_ENST00000525962.1_Splice_Site|TGFBR3_ENST00000370399.2_Splice_Site		NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	WXS	Illumina GAIIx	Phase_I	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	11	2032	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)						A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Splice_Site	SNP	ENST00000525962.1	37		CCDS30770.1	.	.	.	.	.	.	.	.	.	.	T	18.56	3.650720	0.67472	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.363	0.74496	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TGFBR3	91954855	1.000000	0.71417	0.998000	0.56505	0.644000	0.38419	6.218000	0.72224	2.028000	0.59812	0.454000	0.30748	.		0.423	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243	Intron	9	688	0	0	0	1	0	9	688				
SLC25A12	8604	broad.mit.edu	37	2	172641944	172641944	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:172641944G>A	ENST00000422440.2	-	18	1914	c.1877C>T	c.(1876-1878)gCa>gTa	p.A626V	SLC25A12_ENST00000392592.4_Missense_Mutation_p.A519V	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	626					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	AGGAAGGTCTGCAATGCGTGA	0.498																																						ENST00000422440.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23						c.(1876-1878)gCa>gTa		solute carrier family 25 (aspartate/glutamate carrier), member 12	L-Aspartic Acid(DB00128)						210.0	188.0	195.0					2																	172641944		2203	4300	6503	SO:0001583	missense	8604				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	g.chr2:172641944G>A	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.1877C>T	2.37:g.172641944G>A	ENSP00000388658:p.Ala626Val		Somatic				SLC25A12_ENST00000392592.4_Missense_Mutation_p.A519V	p.A626V	NM_003705.4	NP_003696.2	WXS	Illumina GAIIx	Phase_I	O75746	CMC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		18	1914	-			626					B3KR64|Q96AM8	Missense_Mutation	SNP	ENST00000422440.2	37	c.1877C>T	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801546	0.50315	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.78707	-1.2;-1.18	6.02	6.02	0.97574	.	0.353820	0.32473	N	0.006058	T	0.69806	0.3152	N	0.22421	0.69	0.39627	D	0.970121	B;B	0.16166	0.016;0.002	B;B	0.17098	0.017;0.004	T	0.62840	-0.6769	10	0.37606	T	0.19	-7.6827	20.547	0.99278	0.0:0.0:1.0:0.0	.	519;626	B3KR64;O75746	.;CMC1_HUMAN	V	626;519	ENSP00000388658:A626V;ENSP00000376371:A519V	ENSP00000376371:A519V	A	-	2	0	SLC25A12	172350190	0.939000	0.31865	1.000000	0.80357	0.998000	0.95712	2.370000	0.44240	2.850000	0.98022	0.650000	0.86243	GCA		0.498	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705		4	81	0	0	0	1	0	4	81				
MUC16	94025	broad.mit.edu	37	19	9088165	9088165	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:9088165A>T	ENST00000397910.4	-	1	3853	c.3650T>A	c.(3649-3651)cTg>cAg	p.L1217Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1217	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						CAAGGGAACCAGGGTGCTTTT	0.502																																						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.(3649-3651)cTg>cAg		mucin 16, cell surface associated							241.0	233.0	236.0					19																	9088165		2052	4211	6263	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088165A>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.3650T>A	19.37:g.9088165A>T	ENSP00000381008:p.Leu1217Gln		Somatic					p.L1217Q	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			1	3853	-			1217			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.3650T>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	2.180	-0.387813	0.04932	.	.	ENSG00000181143	ENST00000397910	T	0.03242	4.0	1.38	-1.54	0.08584	.	.	.	.	.	T	0.01800	0.0057	N	0.08118	0	.	.	.	D	0.58268	0.982	B	0.41332	0.354	T	0.43426	-0.9392	8	0.87932	D	0	.	2.4292	0.04467	0.2583:0.3215:0.4202:0.0	.	1217	B5ME49	.	Q	1217	ENSP00000381008:L1217Q	ENSP00000381008:L1217Q	L	-	2	0	MUC16	8949165	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.400000	0.07241	-0.338000	0.08413	0.254000	0.18369	CTG		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	874	0	0	0	1	0	7	874				
PDS5A	23244	broad.mit.edu	37	4	39910035	39910035	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:39910035C>A	ENST00000303538.8	-	11	1752	c.1213G>T	c.(1213-1215)Gaa>Taa	p.E405*	PDS5A_ENST00000503396.1_Nonsense_Mutation_p.E405*	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						AGTGTTCTTTCCCTTACAAAG	0.363																																						ENST00000303538.8																			0				breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						c.(1213-1215)Gaa>Taa		PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)							207.0	203.0	204.0					4																	39910035		1841	4085	5926	SO:0001587	stop_gained	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39910035C>A	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.1213G>T	4.37:g.39910035C>A	ENSP00000303427:p.Glu405*		Somatic				PDS5A_ENST00000503396.1_Nonsense_Mutation_p.E405*	p.E405*	NM_001100399.1	NP_001093869.1	WXS	Illumina GAIIx	Phase_I	Q29RF7	PDS5A_HUMAN			11	1752	-			405						Nonsense_Mutation	SNP	ENST00000303538.8	37	c.1213G>T	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	C	43	10.477874	0.99412	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	.	.	.	4.89	4.89	0.63831	.	0.060068	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.7113	18.0427	0.89323	0.0:1.0:0.0:0.0	.	.	.	.	X	405	.	.	E	-	1	0	PDS5A	39586430	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.798000	0.85924	2.254000	0.74563	0.557000	0.71058	GAA		0.363	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		4	192	1	0	0.000602214	1	0.000662999	4	192				
MYO19	80179	broad.mit.edu	37	17	34861237	34861237	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:34861237G>T	ENST00000431794.3	-	19	2326	c.1804C>A	c.(1804-1806)Ctg>Atg	p.L602M	MYO19_ENST00000268852.9_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	602	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AGCTGCTCCAGTGAGGCCTGC	0.592																																						ENST00000431794.3																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20						c.(1804-1806)Ctg>Atg		myosin XIX							94.0	86.0	88.0					17																	34861237		1568	3582	5150	SO:0001583	missense	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34861237G>T	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.1804C>A	17.37:g.34861237G>T	ENSP00000409936:p.Leu602Met		Somatic				MYO19_ENST00000268852.9_Intron	p.L602M	NM_001163735.1	NP_001157207.1	WXS	Illumina GAIIx	Phase_I	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	19	2326	-		Breast(25;0.00957)|Ovarian(249;0.17)	602			Myosin head-like.		Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	c.1804C>A	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312029	0.81358	.	.	ENSG00000141140	ENST00000431794	D	0.89810	-2.57	5.53	4.56	0.56223	Myosin head, motor domain (2);	.	.	.	.	D	0.93618	0.7962	M	0.74389	2.26	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94157	0.7411	9	0.87932	D	0	.	13.1998	0.59761	0.0775:0.0:0.9224:0.0	.	602	Q96H55	MYO19_HUMAN	M	602	ENSP00000409936:L602M	ENSP00000409936:L602M	L	-	1	2	MYO19	31935350	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	5.742000	0.68646	1.462000	0.47948	0.563000	0.77884	CTG		0.592	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		3	20	1	0	0.00024832	1	0.000276485	3	20				
HSPG2	3339	broad.mit.edu	37	1	22203096	22203096	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:22203096T>G	ENST00000374695.3	-	22	2814	c.2735A>C	c.(2734-2736)cAc>cCc	p.H912P		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	912	Laminin EGF-like 4; truncated. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGTACTCAGGTGGAAAGAGCC	0.592																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(2734-2736)cAc>cCc		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						110.0	84.0	93.0					1																	22203096		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22203096T>G	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.2735A>C	1.37:g.22203096T>G	ENSP00000363827:p.His912Pro		Somatic					p.H912P	NM_005529.5	NP_005520.4	WXS	Illumina GAIIx	Phase_I	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	22	2814	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	912			Laminin EGF-like 4; truncated.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.2735A>C	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	T	15.68	2.904100	0.52333	.	.	ENSG00000142798	ENST00000374695	T	0.62639	0.01	5.01	5.01	0.66863	EGF-like, laminin (3);	0.000000	0.42053	D	0.000767	T	0.72542	0.3473	M	0.86268	2.805	0.50813	D	0.999892	P	0.47484	0.896	P	0.49192	0.602	T	0.78468	-0.2192	10	0.87932	D	0	.	12.6902	0.56970	0.0:0.0:0.0:1.0	.	912	P98160	PGBM_HUMAN	P	912	ENSP00000363827:H912P	ENSP00000363827:H912P	H	-	2	0	HSPG2	22075683	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	7.151000	0.77411	1.896000	0.54893	0.459000	0.35465	CAC		0.592	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		4	17	0	0	0	1	0	4	17				
OR11L1	391189	broad.mit.edu	37	1	248004813	248004813	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:248004813G>A	ENST00000355784.2	-	1	441	c.386C>T	c.(385-387)cCa>cTa	p.P129L		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	129						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTAGCGGAGTGGGCTGCAGAT	0.602																																						ENST00000355784.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(385-387)cCa>cTa		olfactory receptor, family 11, subfamily L, member 1							46.0	42.0	44.0					1																	248004813		2203	4300	6503	SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004813G>A	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.386C>T	1.37:g.248004813G>A	ENSP00000348033:p.Pro129Leu		Somatic					p.P129L	NM_001001959.1	NP_001001959.1	WXS	Illumina GAIIx	Phase_I	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	441	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		129						Missense_Mutation	SNP	ENST00000355784.2	37	c.386C>T	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163944	0.57476	.	.	ENSG00000197591	ENST00000355784	T	0.01902	4.57	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36268	U	0.002694	T	0.15955	0.0384	M	0.93550	3.43	0.58432	D	0.999996	P	0.47409	0.895	P	0.56916	0.809	T	0.03017	-1.1082	10	0.87932	D	0	.	17.1903	0.86877	0.0:0.0:1.0:0.0	.	129	Q8NGX0	O11L1_HUMAN	L	129	ENSP00000348033:P129L	ENSP00000348033:P129L	P	-	2	0	OR11L1	246071436	1.000000	0.71417	0.700000	0.30305	0.039000	0.13416	6.706000	0.74649	2.450000	0.82876	0.543000	0.68304	CCA		0.602	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		4	73	0	0	0	1	0	4	73				
TRIM31	11074	broad.mit.edu	37	6	30071491	30071491	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:30071491G>T	ENST00000376734.3	-	9	1225	c.1100C>A	c.(1099-1101)gCt>gAt	p.A367D	TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000485864.1_5'Flank|TRIM31_ENST00000540829.1_Missense_Mutation_p.A367D	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	367					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						GACTTTCCCAGCAGACGAGGC	0.532																																						ENST00000376734.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						c.(1099-1101)gCt>gAt		tripartite motif containing 31							125.0	133.0	130.0					6																	30071491		1510	2709	4219	SO:0001583	missense	11074					mitochondrion	ligase activity|zinc ion binding	g.chr6:30071491G>T	AF230386	CCDS34374.1	6p21.3	2013-01-09	2011-01-25		ENSG00000204616	ENSG00000204616		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16289	protein-coding gene	gene with protein product		609316	"""tripartite motif-containing 31"""			11331580	Standard	XM_006714977		Approved	RNF, HCGI, C6orf13, HCG1	uc003npg.1	Q9BZY9	OTTHUMG00000031064	ENST00000376734.3:c.1100C>A	6.37:g.30071491G>T	ENSP00000365924:p.Ala367Asp		Somatic				TRIM31_ENST00000540829.1_Missense_Mutation_p.A367D	p.A367D	NM_007028.3	NP_008959.3	WXS	Illumina GAIIx	Phase_I	Q9BZY9	TRI31_HUMAN			9	1225	-			367					A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	Missense_Mutation	SNP	ENST00000376734.3	37	c.1100C>A	CCDS34374.1	.	.	.	.	.	.	.	.	.	.	G	8.395	0.840583	0.16891	.	.	ENSG00000204616	ENST00000376734;ENST00000376728;ENST00000540829	T;T	0.68331	-0.32;-0.32	2.25	-1.1	0.09872	.	.	.	.	.	T	0.24122	0.0584	N	0.08118	0	0.09310	N	1	D	0.63046	0.992	P	0.48738	0.588	T	0.09729	-1.0661	9	0.30078	T	0.28	.	2.0528	0.03574	0.3696:0.0:0.3759:0.2545	.	367	Q9BZY9	TRI31_HUMAN	D	367	ENSP00000365924:A367D;ENSP00000444311:A367D	ENSP00000365918:A367D	A	-	2	0	TRIM31	30179470	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.164000	0.09983	-0.307000	0.08804	0.579000	0.79373	GCT		0.532	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076081.2			101	300	1	0	2.07075e-64	1	2.83645e-64	101	300				
AHNAK	79026	broad.mit.edu	37	11	62299309	62299309	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:62299309G>A	ENST00000378024.4	-	5	2854	c.2580C>T	c.(2578-2580)gaC>gaT	p.D860D	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	860					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGACATCAATGTCCATTTTGG	0.453																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(2578-2580)gaC>gaT		AHNAK nucleoprotein							211.0	220.0	217.0					11																	62299309		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62299309G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.2580C>T	11.37:g.62299309G>A			Somatic				AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.D860D	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	2854	-		Melanoma(852;0.155)	860					A1A586	Silent	SNP	ENST00000378024.4	37	c.2580C>T	CCDS31584.1																																																																																				0.453	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		5	502	0	0	0	1	0	5	502				
STYXL1	51657	broad.mit.edu	37	7	75633083	75633083	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:75633083G>T	ENST00000248600.1	-	7	1032	c.690C>A	c.(688-690)caC>caA	p.H230Q	STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000431581.1_Missense_Mutation_p.H230Q|STYXL1_ENST00000359697.3_Missense_Mutation_p.H230Q|STYXL1_ENST00000451157.1_Missense_Mutation_p.H230Q|STYXL1_ENST00000340062.5_Missense_Mutation_p.H134Q	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	230	Tyrosine-protein phosphatase.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						TACCAATGAAGTGACACATGT	0.547																																						ENST00000451157.1																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						c.(688-690)caC>caA		serine/threonine/tyrosine interacting-like 1							122.0	93.0	103.0					7																	75633083		2203	4300	6503	SO:0001583	missense	51657				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity	g.chr7:75633083G>T	AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	18165	protein-coding gene	gene with protein product			"""dual specificity phosphatase 24 (putative)"""	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.690C>A	7.37:g.75633083G>T	ENSP00000248600:p.His230Gln		Somatic				STYXL1_ENST00000340062.5_Missense_Mutation_p.H134Q|STYXL1_ENST00000248600.1_Missense_Mutation_p.H230Q|STYXL1_ENST00000359697.3_Missense_Mutation_p.H230Q|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000431581.1_Missense_Mutation_p.H230Q	p.H230Q			WXS	Illumina GAIIx	Phase_I	Q9Y6J8	STYL1_HUMAN			7	859	-			230			Tyrosine-protein phosphatase.		Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Missense_Mutation	SNP	ENST00000248600.1	37	c.690C>A	CCDS5580.1	.	.	.	.	.	.	.	.	.	.	G	9.542	1.113540	0.20795	.	.	ENSG00000127952	ENST00000248600;ENST00000359697;ENST00000340062;ENST00000404050;ENST00000431581;ENST00000454618;ENST00000451157	T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26	3.74	0.876	0.19138	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.400007	0.29791	N	0.011184	T	0.54775	0.1879	L	0.27975	0.815	0.80722	D	1	D;B;D;D;B;B	0.89917	1.0;0.098;0.999;0.98;0.056;0.034	D;B;D;P;B;B	0.77004	0.984;0.076;0.989;0.773;0.071;0.063	T	0.48658	-0.9016	10	0.22109	T	0.4	-31.1127	6.0983	0.20033	0.3332:0.0:0.6668:0.0	.	230;230;230;134;230;134	Q9Y6J8-3;C9J4H0;Q9Y6J8-2;Q9Y6J8-4;Q9Y6J8;Q7Z3H6	.;.;.;.;STYL1_HUMAN;.	Q	230;230;134;230;230;185;230	ENSP00000248600:H230Q;ENSP00000352726:H230Q;ENSP00000343383:H134Q;ENSP00000392221:H230Q;ENSP00000406073:H185Q;ENSP00000411812:H230Q	ENSP00000248600:H230Q	H	-	3	2	STYXL1	75471019	1.000000	0.71417	0.982000	0.44146	0.699000	0.40488	1.574000	0.36482	0.180000	0.19960	0.563000	0.77884	CAC		0.547	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344825.1	NM_016086		7	108	1	0	5.4927e-09	1	6.67052e-09	7	108				
AGBL5	60509	broad.mit.edu	37	2	27276327	27276327	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:27276327C>T	ENST00000360131.4	+	3	432	c.273C>T	c.(271-273)aaC>aaT	p.N91N	AGBL5_ENST00000323064.8_Silent_p.N91N|RP11-503P10.1_ENST00000607407.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	91					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAAGATCAACATTATGAACA	0.542																																						ENST00000360131.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28						c.(271-273)aaC>aaT		ATP/GTP binding protein-like 5							116.0	108.0	111.0					2																	27276327		2203	4300	6503	SO:0001819	synonymous_variant	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27276327C>T	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.273C>T	2.37:g.27276327C>T			Somatic				AGBL5_ENST00000323064.8_Silent_p.N91N	p.N91N	NM_021831.5	NP_068603.4	WXS	Illumina GAIIx	Phase_I	Q8NDL9	CBPC5_HUMAN			3	432	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		91					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Silent	SNP	ENST00000360131.4	37	c.273C>T	CCDS1732.3																																																																																				0.542	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		3	71	0	0	0	1	0	3	71				
MBD4	8930	broad.mit.edu	37	3	129155758	129155758	+	Silent	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:129155758A>T	ENST00000249910.1	-	3	904	c.729T>A	c.(727-729)atT>atA	p.I243I	MBD4_ENST00000507208.1_Silent_p.I243I|MBD4_ENST00000429544.2_Silent_p.I243I|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000503197.1_Silent_p.I243I	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	243					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TAGTTTTCTTAATTGGGATTC	0.358								Base excision repair (BER), DNA glycosylases																														ENST00000429544.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						c.(727-729)atT>atA	Base excision repair (BER), DNA glycosylases	methyl-CpG binding domain protein 4							146.0	158.0	154.0					3																	129155758		2202	4300	6502	SO:0001819	synonymous_variant	8930				depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding	g.chr3:129155758A>T	AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.729T>A	3.37:g.129155758A>T			Somatic				MBD4_ENST00000249910.1_Silent_p.I243I|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000503197.1_Silent_p.I243I|MBD4_ENST00000507208.1_Silent_p.I243I|MBD4_ENST00000393278.2_Intron	p.I243I	NM_001276270.1	NP_001263199.1	WXS	Illumina GAIIx	Phase_I	O95243	MBD4_HUMAN			3	924	-			243					B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Silent	SNP	ENST00000249910.1	37	c.729T>A	CCDS3058.1																																																																																				0.358	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925		5	268	0	0	0	1	0	5	268				
FAM222A	84915	broad.mit.edu	37	12	110205834	110205834	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:110205834G>A	ENST00000538780.1	+	3	816	c.100G>A	c.(100-102)Gcc>Acc	p.A34T	FAM222A-AS1_ENST00000541460.1_RNA|FAM222A-AS1_ENST00000541723.1_RNA|FAM222A_ENST00000358906.3_Missense_Mutation_p.A34T	NM_032829.2	NP_116218.2	Q5U5X8	F222A_HUMAN	family with sequence similarity 222, member A	34																	GGTGGCCAGCGCCATGCATTC	0.652																																						ENST00000538780.1																			0											c.(100-102)Gcc>Acc		family with sequence similarity 222, member A							59.0	54.0	56.0					12																	110205834		2203	4300	6503	SO:0001583	missense	84915							g.chr12:110205834G>A	AK027627	CCDS9133.1	12q24.11	2012-04-27	2012-04-27	2012-04-27	ENSG00000139438	ENSG00000139438			25915	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 34"""	C12orf34		12477932	Standard	NM_032829		Approved	FLJ14721	uc001tpd.2	Q5U5X8	OTTHUMG00000169260	ENST00000538780.1:c.100G>A	12.37:g.110205834G>A	ENSP00000443292:p.Ala34Thr		Somatic				FAM222A-AS1_ENST00000541460.1_RNA|FAM222A-AS1_ENST00000541723.1_RNA|FAM222A_ENST00000358906.3_Missense_Mutation_p.A34T	p.A34T	NM_032829.2	NP_116218.2	WXS	Illumina GAIIx	Phase_I	Q5U5X8	CL034_HUMAN			3	816	+			34					Q8NCD5|Q96SP6	Missense_Mutation	SNP	ENST00000538780.1	37	c.100G>A	CCDS9133.1	.	.	.	.	.	.	.	.	.	.	G	5.130	0.209566	0.09757	.	.	ENSG00000139438	ENST00000538780;ENST00000358906	T;T	0.29397	1.57;1.57	3.16	2.0	0.26442	.	0.218997	0.38326	N	0.001729	T	0.12050	0.0293	N	0.08118	0	0.24665	N	0.993447	B	0.23058	0.079	B	0.20767	0.031	T	0.14309	-1.0477	10	0.31617	T	0.26	-22.2481	2.8961	0.05691	0.0:0.2398:0.2649:0.4953	.	34	Q5U5X8	CL034_HUMAN	T	34	ENSP00000443292:A34T;ENSP00000351783:A34T	ENSP00000351783:A34T	A	+	1	0	C12orf34	108690217	0.997000	0.39634	1.000000	0.80357	0.757000	0.42996	0.557000	0.23454	0.322000	0.23283	0.305000	0.20034	GCC		0.652	FAM222A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403175.1	NM_032829		37	3004	0	0	0	1	0	37	3004				
HTR1A	3350	broad.mit.edu	37	5	63256443	63256443	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:63256443C>T	ENST00000323865.3	-	1	1337	c.1104G>A	c.(1102-1104)ctG>ctA	p.L368L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	368					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CGCAGAAGGGCAGAACAAGAG	0.572																																						ENST00000323865.3																			0				cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(1102-1104)ctG>ctA		5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						127.0	132.0	130.0					5																	63256443		2203	4300	6503	SO:0001819	synonymous_variant	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256443C>T	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.1104G>A	5.37:g.63256443C>T			Somatic				RP11-158J3.2_ENST00000502882.1_RNA	p.L368L	NM_000524.3	NP_000515.2	WXS	Illumina GAIIx	Phase_I	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	1337	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	368					Q6LAE7	Silent	SNP	ENST00000323865.3	37	c.1104G>A	CCDS34168.1																																																																																				0.572	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		7	567	0	0	0	1	0	7	567				
CDK4	1019	broad.mit.edu	37	12	58145072	58145072	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:58145072A>G	ENST00000257904.6	-	3	637	c.272T>C	c.(271-273)cTg>cCg	p.L91P	CDK4_ENST00000549606.1_Intron|CDK4_ENST00000312990.6_Intron|CDK4_ENST00000540325.1_Intron|CDK4_ENST00000551888.1_Intron	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	91	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)			CTCAAACACCAGGGTTACCTT	0.532			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.(271-273)cTg>cCg		cyclin-dependent kinase 4							181.0	153.0	162.0					12																	58145072		2203	4300	6503	SO:0001583	missense	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.chr12:58145072A>G	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.272T>C	12.37:g.58145072A>G	ENSP00000257904:p.Leu91Pro		Somatic				CDK4_ENST00000312990.6_Intron|CDK4_ENST00000540325.1_Intron|CDK4_ENST00000551888.1_Intron|CDK4_ENST00000549606.1_Intron	p.L91P	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)		3	637	-	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)		91			Protein kinase.		B2R9A0|B4DNF9|O00576|Q6FG61	Missense_Mutation	SNP	ENST00000257904.6	37	c.272T>C	CCDS8953.1	.	.	.	.	.	.	.	.	.	.	A	19.21	3.784400	0.70222	.	.	ENSG00000135446	ENST00000257904;ENST00000546489;ENST00000547281;ENST00000551800;ENST00000552254;ENST00000552388;ENST00000552862	T;T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;1.58;1.58;1.58	4.92	4.92	0.64577	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000011	T	0.76506	0.3997	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80997	-0.1132	10	0.87932	D	0	.	8.6065	0.33775	0.9126:0.0:0.0874:0.0	.	91	P11802	CDK4_HUMAN	P	91;17;17;17;91;91;91	ENSP00000257904:L91P;ENSP00000447779:L17P;ENSP00000447274:L17P;ENSP00000449391:L17P;ENSP00000449179:L91P;ENSP00000448963:L91P;ENSP00000446763:L91P	ENSP00000257904:L91P	L	-	2	0	CDK4	56431339	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.078000	0.76821	2.196000	0.70406	0.460000	0.39030	CTG		0.532	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408790.2	NM_000075		5	460	0	0	0	1	0	5	460				
C10orf11	83938	broad.mit.edu	37	10	77818477	77818477	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:77818477T>A	ENST00000372499.1	+	4	583	c.368T>A	c.(367-369)gTa>gAa	p.V123E	C10orf11_ENST00000593699.1_3'UTR	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	123	LRRCT.				melanocyte differentiation (GO:0030318)					endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					GCCCAGAAAGTAACCAGACAA	0.483																																						ENST00000372499.1																			0				endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10						c.(367-369)gTa>gAa		chromosome 10 open reading frame 11							149.0	144.0	146.0					10																	77818477		2203	4300	6503	SO:0001583	missense	83938							g.chr10:77818477T>A	AF267860	CCDS7351.1	10q22.3	2013-08-22			ENSG00000148655	ENSG00000148655			23405	protein-coding gene	gene with protein product	"""oculocutaneous albinism 7, autosomal recessive"""	614537				23395477	Standard	NM_032024		Approved	CDA017, OCA7	uc001jxi.3	Q9H2I8	OTTHUMG00000018532	ENST00000372499.1:c.368T>A	10.37:g.77818477T>A	ENSP00000361577:p.Val123Glu		Somatic				C10orf11_ENST00000593699.1_3'UTR	p.V123E	NM_032024.3	NP_114413.1	WXS	Illumina GAIIx	Phase_I	Q9H2I8	CJ011_HUMAN			4	583	+	Prostate(51;0.0095)|all_epithelial(25;0.0221)		123			LRRCT.		B1AVW6	Missense_Mutation	SNP	ENST00000372499.1	37	c.368T>A	CCDS7351.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.656681	0.88154	.	.	ENSG00000148655	ENST00000354343;ENST00000372499	T	0.34859	1.34	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.72574	0.3477	H	0.95950	3.745	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.82440	-0.0456	10	0.87932	D	0	-20.1898	15.8843	0.79232	0.0:0.0:0.0:1.0	.	123	Q9H2I8	CJ011_HUMAN	E	151;123	ENSP00000361577:V123E	ENSP00000346310:V151E	V	+	2	0	C10orf11	77488483	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.474000	0.81024	2.164000	0.68074	0.533000	0.62120	GTA		0.483	C10orf11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048839.1	NM_032024		6	223	0	0	0	1	0	6	223				
TMEM33	55161	broad.mit.edu	37	4	41956089	41956089	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:41956089C>A	ENST00000504986.1	+	7	982	c.617C>A	c.(616-618)aCc>aAc	p.T206N	TMEM33_ENST00000513702.1_Missense_Mutation_p.T206N|TMEM33_ENST00000325094.5_Missense_Mutation_p.T206N	NM_018126.2	NP_060596.2	P57088	TMM33_HUMAN	transmembrane protein 33	206						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						TCTTGCAGGACCTTATTTAAT	0.343																																						ENST00000504986.1																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						c.(616-618)aCc>aAc		transmembrane protein 33							140.0	139.0	139.0					4																	41956089		2203	4300	6503	SO:0001583	missense	55161					integral to membrane|melanosome	protein binding	g.chr4:41956089C>A	BC000948	CCDS3464.1	4p14	2008-02-05			ENSG00000109133	ENSG00000109133			25541	protein-coding gene	gene with protein product						12477932	Standard	NM_018126		Approved	FLJ10525	uc003gwi.2	P57088	OTTHUMG00000099381	ENST00000504986.1:c.617C>A	4.37:g.41956089C>A	ENSP00000422473:p.Thr206Asn		Somatic				TMEM33_ENST00000325094.5_Missense_Mutation_p.T206N|TMEM33_ENST00000513702.1_Missense_Mutation_p.T206N	p.T206N	NM_018126.2	NP_060596.2	WXS	Illumina GAIIx	Phase_I	P57088	TMM33_HUMAN			7	982	+			206					B3KSS8|Q9H953	Missense_Mutation	SNP	ENST00000504986.1	37	c.617C>A	CCDS3464.1	.	.	.	.	.	.	.	.	.	.	C	1.416	-0.574143	0.03882	.	.	ENSG00000109133	ENST00000504986;ENST00000508448;ENST00000513702;ENST00000325094	.	.	.	5.67	3.79	0.43588	.	0.137592	0.64402	N	0.000003	T	0.26702	0.0653	N	0.13198	0.31	0.49299	D	0.999776	B	0.29909	0.261	B	0.19666	0.026	T	0.08743	-1.0707	9	0.06625	T	0.88	-4.7095	8.5291	0.33324	0.1781:0.7378:0.0:0.0842	.	206	P57088	TMM33_HUMAN	N	206	.	ENSP00000441455:T206N	T	+	2	0	TMEM33	41650846	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	2.933000	0.48948	0.608000	0.30000	0.467000	0.42956	ACC		0.343	TMEM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216834.2	NM_018126		4	85	1	0	8.12818e-05	1	9.13645e-05	4	85				
SORBS2	8470	broad.mit.edu	37	4	186536215	186536215	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:186536215G>T	ENST00000284776.7	-	16	3247	c.2738C>A	c.(2737-2739)cCg>cAg	p.P913Q	SORBS2_ENST00000449407.2_Missense_Mutation_p.P457Q|SORBS2_ENST00000393528.3_Missense_Mutation_p.P479Q|SORBS2_ENST00000418609.1_Missense_Mutation_p.P817Q|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000431808.1_Missense_Mutation_p.P913Q|SORBS2_ENST00000448662.2_Missense_Mutation_p.P474Q|SORBS2_ENST00000437304.2_Missense_Mutation_p.P637Q|SORBS2_ENST00000355634.5_Missense_Mutation_p.P1013Q|SORBS2_ENST00000319471.9_Missense_Mutation_p.P544Q	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	913	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GTATGAGATCGGGAAGATGCC	0.443																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(2737-2739)cCg>cAg		sorbin and SH3 domain containing 2							144.0	135.0	138.0					4																	186536215		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186536215G>T		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2738C>A	4.37:g.186536215G>T	ENSP00000284776:p.Pro913Gln		Somatic				SORBS2_ENST00000418609.1_Missense_Mutation_p.P817Q|SORBS2_ENST00000449407.2_Missense_Mutation_p.P457Q|SORBS2_ENST00000448662.2_Missense_Mutation_p.P474Q|SORBS2_ENST00000393528.3_Missense_Mutation_p.P479Q|SORBS2_ENST00000355634.5_Missense_Mutation_p.P1013Q|SORBS2_ENST00000437304.2_Missense_Mutation_p.P637Q|SORBS2_ENST00000319471.9_Missense_Mutation_p.P544Q|SORBS2_ENST00000284776.7_Missense_Mutation_p.P913Q|SORBS2_ENST00000498125.1_5'UTR	p.P913Q			WXS	Illumina GAIIx	Phase_I	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	17	3301	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	913			SH3 1.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.2738C>A	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750132	0.89753	.	.	ENSG00000154556	ENST00000284776;ENST00000448662;ENST00000431808;ENST00000418609;ENST00000437304;ENST00000319471;ENST00000449407;ENST00000355634;ENST00000393528;ENST00000319454;ENST00000451974	D;D;D;D;D;D;D;D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69	6.16	6.16	0.99307	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	D	0.97942	0.9323	H	0.99391	4.545	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.99;1.0;1.0;1.0;0.999	D	0.98505	1.0616	10	0.87932	D	0	-23.7641	20.8598	0.99761	0.0:0.0:1.0:0.0	.	479;474;817;305;362;504;1013;913;457;637;474;504;458;479	G3XAI0;C9JKV9;B7Z3X6;B7Z997;B3KPU4;O94875-4;B3KPQ7;O94875;E9PAS5;E9PAW4;B7Z1G5;O94875-5;O94875-3;O94875-2	.;.;.;.;.;.;.;SRBS2_HUMAN;.;.;.;.;.;.	Q	913;474;913;817;637;544;457;1013;479;504;262	ENSP00000284776:P913Q;ENSP00000409158:P474Q;ENSP00000411764:P913Q;ENSP00000397482:P817Q;ENSP00000396008:P637Q;ENSP00000322182:P544Q;ENSP00000397262:P457Q;ENSP00000347852:P1013Q;ENSP00000377162:P479Q;ENSP00000321983:P504Q;ENSP00000401818:P262Q	ENSP00000284776:P913Q	P	-	2	0	SORBS2	186773209	1.000000	0.71417	0.309000	0.25155	0.706000	0.40770	9.848000	0.99507	2.937000	0.99478	0.650000	0.86243	CCG		0.443	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		5	120	1	0	3.59834e-05	1	4.06798e-05	5	120				
TRAV13-2	28670	broad.mit.edu	37	14	22386370	22386370	+	RNA	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:22386370G>T	ENST00000390439.2	+	0	8									T cell receptor alpha variable 13-2																		ACCCGATGATGGAAGTAGCTC	0.403																																						ENST00000390439.2																			0																				164.0	139.0	147.0					14																	22386370		692	1591	2283			28670							g.chr14:22386370G>T	AE000659		14q11.2	2012-02-07			ENSG00000211791	ENSG00000211791		"""T cell receptors / TRA locus"""	12109	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168997		14.37:g.22386370G>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	8	+									RNA	SNP	ENST00000390439.2	37																																																																																						0.403	TRAV13-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401895.1	NG_001332		5	76	1	0	7.03913e-09	1	8.53096e-09	5	76				
FER	2241	broad.mit.edu	37	5	108168555	108168555	+	Missense_Mutation	SNP	C	C	A	rs377413281		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:108168555C>A	ENST00000281092.4	+	4	676	c.292C>A	c.(292-294)Cac>Aac	p.H98N	FER_ENST00000438717.2_Intron|FER_ENST00000502752.1_3'UTR|FER_ENST00000536402.1_Missense_Mutation_p.H98N|CTD-2197I11.1_ENST00000510935.1_RNA	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	98	Important for interaction with membranes containing phosphoinositides.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TGGACCTTTACACAGGCTCAC	0.393																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4																			0				NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32						c.(292-294)Cac>Aac		fer (fps/fes related) tyrosine kinase							150.0	135.0	140.0					5																	108168555		2202	4300	6502	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108168555C>A	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.292C>A	5.37:g.108168555C>A	ENSP00000281092:p.His98Asn		Somatic				FER_ENST00000438717.2_Intron|FER_ENST00000502752.1_3'UTR|FER_ENST00000536402.1_Missense_Mutation_p.H98N	p.H98N	NM_005246.2	NP_005237.2	WXS	Illumina GAIIx	Phase_I	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	4	676	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	98			Important for interaction with membranes containing phosphoinositides.		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.292C>A	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997558	0.54147	.	.	ENSG00000151422	ENST00000281092;ENST00000536402	T;T	0.39997	1.05;1.05	6.0	5.13	0.70059	.	0.042513	0.85682	N	0.000000	T	0.53174	0.1780	L	0.38531	1.155	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.70227	0.968;0.968	T	0.46261	-0.9204	10	0.22109	T	0.4	-12.9564	16.7501	0.85483	0.1302:0.8698:0.0:0.0	.	98;98	Q6PEJ9;P16591	.;FER_HUMAN	N	98	ENSP00000281092:H98N;ENSP00000442627:H98N	ENSP00000281092:H98N	H	+	1	0	FER	108196454	1.000000	0.71417	0.996000	0.52242	0.944000	0.59088	7.054000	0.76649	1.535000	0.49220	-0.169000	0.13324	CAC		0.393	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		9	483	1	0	1.76689e-08	1	2.12822e-08	9	483				
GMEB1	10691	broad.mit.edu	37	1	29019452	29019452	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:29019452A>T	ENST00000294409.2	+	5	456		c.e5-1		GMEB1_ENST00000373816.1_Splice_Site|GMEB1_ENST00000480454.1_Splice_Site|GMEB1_ENST00000361872.4_Splice_Site	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1						transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTACTTTTAGTTCAATGAT	0.403																																						ENST00000373816.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11						c.e5-1		glucocorticoid modulatory element binding protein 1							110.0	101.0	104.0					1																	29019452		2203	4300	6503	SO:0001630	splice_region_variant	10691				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity	g.chr1:29019452A>T	AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.367-1A>T	1.37:g.29019452A>T			Somatic				GMEB1_ENST00000361872.4_Splice_Site|GMEB1_ENST00000294409.2_Splice_Site|GMEB1_ENST00000480454.1_Splice_Site		NM_024482.2	NP_077808.1	WXS	Illumina GAIIx	Phase_I	Q9Y692	GMEB1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	5	474	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)						B1AT48|Q9NWH1|Q9UKD0	Splice_Site	SNP	ENST00000294409.2	37		CCDS327.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.528904	0.85706	.	.	ENSG00000162419	ENST00000373816;ENST00000456852;ENST00000361872;ENST00000294409	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5272	0.75919	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GMEB1	28892039	1.000000	0.71417	0.996000	0.52242	0.912000	0.54170	7.283000	0.78640	2.311000	0.77944	0.533000	0.62120	.		0.403	GMEB1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000010333.1	NM_006582	Intron	6	176	0	0	0	1	0	6	176				
EOGT	285203	broad.mit.edu	37	3	69026898	69026898	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:69026898C>T	ENST00000383701.3	-	18	2197	c.1455G>A	c.(1453-1455)ctG>ctA	p.L485L	EOGT_ENST00000540955.1_Silent_p.L209L|EOGT_ENST00000540764.1_Silent_p.L384L|EOGT_ENST00000295571.5_Silent_p.L401L	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	485					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)										GGTGCTCCCCCAGGGTTGGAT	0.448																																						ENST00000383701.3																			0											c.(1453-1455)ctG>ctA		EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase							62.0	62.0	62.0					3																	69026898		2203	4300	6503	SO:0001819	synonymous_variant	285203							g.chr3:69026898C>T	AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"""AER61 glycosyltransferase"""	614789	"""chromosome 3 open reading frame 64"""	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.1455G>A	3.37:g.69026898C>T			Somatic				EOGT_ENST00000540764.1_Silent_p.L384L|EOGT_ENST00000540955.1_Silent_p.L209L|EOGT_ENST00000295571.5_Silent_p.L401L	p.L485L	NM_001278689.1	NP_001265618.1	WXS	Illumina GAIIx	Phase_I					18	2197	-								A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Silent	SNP	ENST00000383701.3	37	c.1455G>A																																																																																					0.448	EOGT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343722.1	NM_173654		3	35	0	0	0	1	0	3	35				
ELF4	2000	broad.mit.edu	37	X	129201223	129201223	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:129201223G>T	ENST00000308167.5	-	9	1844	c.1465C>A	c.(1465-1467)Ctt>Att	p.L489I	ELF4_ENST00000335997.7_Missense_Mutation_p.L489I	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCAGCCAGAAGTTGGGGGAGG	0.657			T	ERG	AML																																	ENST00000308167.5				Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1465-1467)Ctt>Att		E74-like factor 4 (ets domain transcription factor)							25.0	28.0	27.0					X																	129201223		2196	4295	6491	SO:0001583	missense	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129201223G>T	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.1465C>A	X.37:g.129201223G>T	ENSP00000311280:p.Leu489Ile		Somatic				ELF4_ENST00000335997.7_Missense_Mutation_p.L489I	p.L489I	NM_001421.3	NP_001412.1	WXS	Illumina GAIIx	Phase_I	Q99607	ELF4_HUMAN			9	1844	-			489						Missense_Mutation	SNP	ENST00000308167.5	37	c.1465C>A	CCDS14617.1	.	.	.	.	.	.	.	.	.	.	g	14.64	2.595437	0.46318	.	.	ENSG00000102034	ENST00000335997;ENST00000308167	T;T	0.20463	2.07;2.07	3.71	1.82	0.25136	.	0.274194	0.19658	N	0.109046	T	0.11793	0.0287	L	0.27053	0.805	0.25797	N	0.98456	B	0.13145	0.007	B	0.12837	0.008	T	0.34304	-0.9834	10	0.13853	T	0.58	.	7.61	0.28124	0.0:0.0:0.5385:0.4615	.	489	Q99607	ELF4_HUMAN	I	489	ENSP00000338608:L489I;ENSP00000311280:L489I	ENSP00000311280:L489I	L	-	1	0	ELF4	129028904	0.997000	0.39634	0.971000	0.41717	0.985000	0.73830	1.264000	0.33015	0.337000	0.23665	0.509000	0.49947	CTT		0.657	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		3	16	1	0	0.004672	1	0.0050124	3	16				
BCL9	607	broad.mit.edu	37	1	147095648	147095648	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:147095648G>A	ENST00000234739.3	+	10	3909	c.3169G>A	c.(3169-3171)Ggc>Agc	p.G1057S		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1057	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)					TCTAGGAATGGGCATTAATAC	0.383			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.(3169-3171)Ggc>Agc		B-cell CLL/lymphoma 9							105.0	116.0	113.0					1																	147095648		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147095648G>A	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.3169G>A	1.37:g.147095648G>A	ENSP00000234739:p.Gly1057Ser		Somatic					p.G1057S	NM_004326.2	NP_004317.2	WXS	Illumina GAIIx	Phase_I	O00512	BCL9_HUMAN			10	3909	+	all_hematologic(923;0.115)		1057			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.3169G>A	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668712	0.47677	.	.	ENSG00000116128	ENST00000234739	T	0.61392	0.11	4.61	3.67	0.42095	.	0.120396	0.56097	D	0.000037	T	0.29556	0.0737	L	0.36672	1.1	0.38154	D	0.938829	P	0.37781	0.608	B	0.27500	0.08	T	0.36504	-0.9745	10	0.62326	D	0.03	-1.0582	14.9119	0.70764	0.0:0.1441:0.8559:0.0	.	1057	O00512	BCL9_HUMAN	S	1057	ENSP00000234739:G1057S	ENSP00000234739:G1057S	G	+	1	0	BCL9	145562272	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.717000	0.91425	1.260000	0.44134	0.655000	0.94253	GGC		0.383	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		4	398	0	0	0	1	0	4	398				
KCNG4	93107	broad.mit.edu	37	16	84270906	84270906	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:84270906C>T	ENST00000308251.4	-	2	254	c.186G>A	c.(184-186)ctG>ctA	p.L62L	KCNG4_ENST00000568181.1_Silent_p.L62L	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	62					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CCACGTTGATCAGGATCTCCT	0.642																																						ENST00000568181.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						c.(184-186)ctG>ctA		potassium voltage-gated channel, subfamily G, member 4							43.0	43.0	43.0					16																	84270906		2200	4300	6500	SO:0001819	synonymous_variant	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84270906C>T	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.186G>A	16.37:g.84270906C>T			Somatic				KCNG4_ENST00000308251.4_Silent_p.L62L	p.L62L			WXS	Illumina GAIIx	Phase_I	Q8TDN1	KCNG4_HUMAN			2	306	-			62					Q96H24	Silent	SNP	ENST00000308251.4	37	c.186G>A	CCDS10945.1																																																																																				0.642	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		40	206	0	0	0	1	0	40	206				
TCOF1	6949	broad.mit.edu	37	5	149755343	149755343	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:149755343C>T	ENST00000504761.2	+	12	1764	c.1764C>T	c.(1762-1764)ccC>ccT	p.P588P	TCOF1_ENST00000451292.1_Silent_p.P588P|TCOF1_ENST00000439160.2_Silent_p.P588P|TCOF1_ENST00000377797.3_Silent_p.P588P|TCOF1_ENST00000445265.2_Silent_p.P511P|TCOF1_ENST00000513346.1_Silent_p.P588P|TCOF1_ENST00000323668.7_Silent_p.P511P|TCOF1_ENST00000394269.3_Silent_p.P588P			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	588					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAAGGGGCCCCCTCAGAAGG	0.612																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(1762-1764)ccC>ccT		Treacher Collins-Franceschetti syndrome 1							84.0	96.0	92.0					5																	149755343		2203	4300	6503	SO:0001819	synonymous_variant	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149755343C>T		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1764C>T	5.37:g.149755343C>T			Somatic				TCOF1_ENST00000504761.2_Silent_p.P588P|TCOF1_ENST00000323668.7_Silent_p.P511P|TCOF1_ENST00000394269.3_Silent_p.P588P|TCOF1_ENST00000377797.3_Silent_p.P588P|TCOF1_ENST00000439160.2_Silent_p.P588P|TCOF1_ENST00000445265.2_Silent_p.P511P|TCOF1_ENST00000513346.1_Silent_p.P588P	p.P588P			WXS	Illumina GAIIx	Phase_I	Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		12	1872	+		all_hematologic(541;0.224)	588					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Silent	SNP	ENST00000504761.2	37	c.1764C>T	CCDS54936.1																																																																																				0.612	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		9	71	0	0	0	1	0	9	71				
CST5	1473	broad.mit.edu	37	20	23860131	23860131	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:23860131C>A	ENST00000304710.4	-	1	256	c.183G>T	c.(181-183)aaG>aaT	p.K61N		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	61					negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						AGTACTCATCCTTATTAATGA	0.567																																						ENST00000304710.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						c.(181-183)aaG>aaT		cystatin D							233.0	216.0	222.0					20																	23860131		2203	4300	6503	SO:0001583	missense	1473					extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr20:23860131C>A		CCDS13162.1	20p11.21	2008-04-15			ENSG00000170367	ENSG00000170367			2477	protein-coding gene	gene with protein product		123858				1939105	Standard	NM_001900		Approved		uc002wtr.1	P28325	OTTHUMG00000032089	ENST00000304710.4:c.183G>T	20.37:g.23860131C>A	ENSP00000307132:p.Lys61Asn		Somatic					p.K61N	NM_001900.4	NP_001891.2	WXS	Illumina GAIIx	Phase_I	P28325	CYTD_HUMAN			1	256	-			61					Q5JRF5|Q9UCA0	Missense_Mutation	SNP	ENST00000304710.4	37	c.183G>T	CCDS13162.1	.	.	.	.	.	.	.	.	.	.	c	1.859	-0.463036	0.04476	.	.	ENSG00000170367	ENST00000304710	T	0.09350	2.99	1.87	-3.74	0.04385	Proteinase inhibitor I25, cystatin (2);	0.111914	0.64402	D	0.000015	T	0.02230	0.0069	N	0.01289	-0.905	0.09310	N	1	B	0.11235	0.004	B	0.19946	0.027	T	0.30031	-0.9992	10	0.28530	T	0.3	.	0.7548	0.00997	0.151:0.2041:0.2708:0.374	.	61	P28325	CYTD_HUMAN	N	61	ENSP00000307132:K61N	ENSP00000307132:K61N	K	-	3	2	CST5	23808131	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.466000	0.00994	-1.198000	0.02669	-1.602000	0.00811	AAG		0.567	CST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078355.2	NM_001900		196	1491	1	0	8.64784e-51	1	1.17907e-50	196	1491				
DGKA	1606	broad.mit.edu	37	12	56347133	56347133	+	Splice_Site	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:56347133G>T	ENST00000331886.5	+	23	2517		c.e23-1		DGKA_ENST00000551156.1_Splice_Site|DGKA_ENST00000549079.2_Splice_Site|DGKA_ENST00000394147.1_Splice_Site	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa						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)	GCCTCCTATAGCACCACAAAA	0.458																																						ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.e23-1		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						273.0	268.0	270.0					12																	56347133		2203	4300	6503	SO:0001630	splice_region_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.chr12:56347133G>T	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.2064-1G>T	12.37:g.56347133G>T			Somatic				DGKA_ENST00000551156.1_Splice_Site|DGKA_ENST00000394147.1_Splice_Site|DGKA_ENST00000549079.2_Splice_Site		NM_001345.4	NP_001336.2	WXS	Illumina GAIIx	Phase_I	P23743	DGKA_HUMAN			23	2517	+								O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Splice_Site	SNP	ENST00000331886.5	37		CCDS8896.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.531893	0.64972	.	.	ENSG00000065357	ENST00000331886;ENST00000394147;ENST00000551156	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4006	0.87459	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DGKA	54633400	1.000000	0.71417	0.994000	0.49952	0.733000	0.41908	9.290000	0.96065	2.463000	0.83235	0.561000	0.74099	.		0.458	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1		Intron	6	838	1	0	0.000602214	1	0.000662999	6	838				
LMO1	4004	broad.mit.edu	37	11	8248620	8248620	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:8248620A>G	ENST00000335790.3	-	3	762	c.267T>C	c.(265-267)gcT>gcC	p.A89A	LMO1_ENST00000534484.1_Silent_p.A78A|LMO1_ENST00000428101.2_Silent_p.A88A	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN	LIM domain only 1 (rhombotin 1)	89	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		TGCTGCAAGCAGCACAGTTCC	0.617			"""T, A"""	TRD@	"""T-ALL, neuroblastoma"""	neuroblastoma																																ENST00000335790.3			yes	Dom	yes		11	11p15	4004	"""T, A"""	LIM domain only 1 (rhombotin 1) (RBTN1)			L	TRD@	neuroblastoma	"""T-ALL, neuroblastoma"""		0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5						c.(265-267)gcT>gcC		LIM domain only 1 (rhombotin 1)							61.0	68.0	66.0					11																	8248620		2102	4233	6335	SO:0001819	synonymous_variant	4004				cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:8248620A>G	M26682	CCDS44534.1, CCDS58118.1	11p15	2014-09-17			ENSG00000166407	ENSG00000166407			6641	protein-coding gene	gene with protein product		186921		RBTN1		2034676, 1703797	Standard	NM_002315		Approved	TTG1, RHOM1	uc001mgh.2	P25800	OTTHUMG00000165833	ENST00000335790.3:c.267T>C	11.37:g.8248620A>G			Somatic				LMO1_ENST00000534484.1_Silent_p.A78A|LMO1_ENST00000428101.2_Silent_p.A88A	p.A89A	NM_002315.2	NP_002306.1	WXS	Illumina GAIIx	Phase_I	P25800	RBTN1_HUMAN		Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)	3	762	-			89			LIM zinc-binding 2.		E9PSF5|Q4VBC5|Q8IXR0	Silent	SNP	ENST00000335790.3	37	c.267T>C	CCDS44534.1																																																																																				0.617	LMO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386503.2	NM_002315		10	1178	0	0	0	1	0	10	1178				
BAG6	7917	broad.mit.edu	37	6	31612763	31612763	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:31612763C>T	ENST00000375964.6	-	10	1660	c.1347G>A	c.(1345-1347)caG>caA	p.Q449Q	BAG6_ENST00000404765.2_Silent_p.Q443Q|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000362049.6_Silent_p.Q443Q|BAG6_ENST00000439687.2_Silent_p.Q443Q|BAG6_ENST00000375976.4_Silent_p.Q443Q|BAG6_ENST00000211379.5_Silent_p.Q443Q	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	449	4 X 29 AA approximate repeats.|Pro-rich.				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)	p.Q443Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GTTCCACACTCTGGTGGGAAA	0.587																																						ENST00000404765.2																			1	Substitution - coding silent(1)	p.Q443Q(1)	lung(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(1327-1329)caG>caA		BCL2-associated athanogene 6							164.0	188.0	179.0					6																	31612763		1509	2709	4218	SO:0001819	synonymous_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.chr6:31612763C>T	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.1347G>A	6.37:g.31612763C>T			Somatic				BAG6_ENST00000439687.2_Silent_p.Q443Q|BAG6_ENST00000362049.6_Silent_p.Q443Q|BAG6_ENST00000211379.5_Silent_p.Q443Q|BAG6_ENST00000375976.4_Silent_p.Q443Q|BAG6_ENST00000375964.6_Silent_p.Q449Q	p.Q443Q			WXS	Illumina GAIIx	Phase_I	P46379	BAG6_HUMAN			10	1618	-			449			4 X 29 AA approximate repeats.|Pro-rich.		A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Silent	SNP	ENST00000375964.6	37	c.1329G>A	CCDS47403.1	.	.	.	.	.	.	.	.	.	.	c	9.316	1.056833	0.19907	.	.	ENSG00000204463	ENST00000453833	.	.	.	5.19	4.32	0.51571	.	.	.	.	.	T	0.57403	0.2051	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58584	-0.7611	4	.	.	.	.	12.8744	0.57982	0.0:0.9193:0.0:0.0807	.	.	.	.	K	104	.	.	E	-	1	0	BAG6	31720742	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.444000	0.73452	1.178000	0.42870	-0.161000	0.13427	GAG		0.587	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		5	322	0	0	0	1	0	5	322				
NBPF10	100132406	broad.mit.edu	37	1	145359175	145359175	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:145359175G>C	ENST00000342960.5	+	72	9150	c.9115G>C	c.(9115-9117)Gtt>Ctt	p.V3039L	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	597						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGGCTTGGCTGTTGACATGGA	0.463																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(9115-9117)Gtt>Ctt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145359175G>C	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.9115G>C	1.37:g.145359175G>C	ENSP00000345684:p.Val3039Leu		Somatic				NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.V3039L	NM_001039703.4	NP_001034792.4	WXS	Illumina GAIIx	Phase_I	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	72	9150	+	all_hematologic(923;0.032)		3039					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.9115G>C	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.780622	0.00079	.	.	ENSG00000163386	ENST00000342960	T	0.03124	4.04	.	.	.	.	.	.	.	.	T	0.00241	0.0007	N	0.00608	-1.33	0.09310	N	1	.	.	.	.	.	.	T	0.41270	-0.9518	5	0.02654	T	1	.	.	.	.	.	.	.	.	L	3039	ENSP00000345684:V3039L	ENSP00000345684:V3039L	V	+	1	0	NBPF10	144070532	0.001000	0.12720	0.002000	0.10522	0.003000	0.03518	0.023000	0.13533	-1.251000	0.02494	-1.858000	0.00562	GTT		0.463	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		7	949	0	0	0	1	0	7	949				
DYNC1H1	1778	broad.mit.edu	37	14	102496167	102496167	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:102496167G>A	ENST00000360184.4	+	50	9818	c.9654G>A	c.(9652-9654)ctG>ctA	p.L3218L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3218	Stalk. {ECO:0000250}.				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						TAGAAGAACTGCGTCGTGACT	0.483																																						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.(9652-9654)ctG>ctA		dynein, cytoplasmic 1, heavy chain 1							120.0	130.0	126.0					14																	102496167		2203	4300	6503	SO:0001819	synonymous_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.chr14:102496167G>A	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.9654G>A	14.37:g.102496167G>A			Somatic					p.L3218L	NM_001376.4	NP_001367.2	WXS	Illumina GAIIx	Phase_I	Q14204	DYHC1_HUMAN			50	9818	+			3218			Stalk (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.9654G>A	CCDS9966.1																																																																																				0.483	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		10	989	0	0	0	1	0	10	989				
IGSF11	152404	broad.mit.edu	37	3	118623533	118623533	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:118623533A>T	ENST00000393775.2	-	6	1121	c.816T>A	c.(814-816)aaT>aaA	p.N272K	IGSF11_ENST00000425327.2_Missense_Mutation_p.N271K|IGSF11_ENST00000489689.1_Missense_Mutation_p.N248K|IGSF11_ENST00000441144.2_Missense_Mutation_p.N247K|IGSF11_ENST00000354673.2_Missense_Mutation_p.N271K|IGSF11_ENST00000491903.1_Missense_Mutation_p.N244K	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	272					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCTCCTCTTTATTTTTGCTTC	0.343																																						ENST00000354673.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(811-813)aaT>aaA		immunoglobulin superfamily, member 11							94.0	108.0	104.0					3																	118623533		2203	4299	6502	SO:0001583	missense	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118623533A>T	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.816T>A	3.37:g.118623533A>T	ENSP00000377370:p.Asn272Lys		Somatic				IGSF11_ENST00000441144.2_Missense_Mutation_p.N247K|IGSF11_ENST00000491903.1_Missense_Mutation_p.N244K|IGSF11_ENST00000393775.2_Missense_Mutation_p.N272K|IGSF11_ENST00000489689.1_Missense_Mutation_p.N248K|IGSF11_ENST00000425327.2_Missense_Mutation_p.N271K	p.N271K	NM_152538.2	NP_689751.2	WXS	Illumina GAIIx	Phase_I	Q5DX21	IGS11_HUMAN			8	1193	-			272					C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	ENST00000393775.2	37	c.813T>A	CCDS46891.1	.	.	.	.	.	.	.	.	.	.	A	5.358	0.251359	0.10130	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903	T;T;D;T;D;D	0.83506	-0.88;-1.11;-1.73;-0.88;-1.66;-1.68	5.28	-2.94	0.05581	.	0.140928	0.64402	D	0.000006	T	0.59729	0.2215	N	0.12182	0.205	0.46774	D	0.999191	B;P;B;B;B	0.35575	0.22;0.51;0.29;0.376;0.376	B;B;B;B;B	0.32864	0.054;0.154;0.154;0.073;0.073	T	0.58825	-0.7568	10	0.02654	T	1	.	13.8086	0.63248	0.3778:0.0:0.6222:0.0	.	244;247;271;248;272	C9JBA5;Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;.;IGS11_HUMAN	K	271;272;248;271;247;244	ENSP00000406092:N271K;ENSP00000377370:N272K;ENSP00000420486:N248K;ENSP00000346700:N271K;ENSP00000401240:N247K;ENSP00000417413:N244K	ENSP00000346700:N271K	N	-	3	2	IGSF11	120106223	1.000000	0.71417	0.966000	0.40874	0.995000	0.86356	2.350000	0.44063	-0.680000	0.05211	-0.250000	0.11733	AAT		0.343	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			7	158	0	0	0	1	0	7	158				
SDHA	6389	broad.mit.edu	37	5	228396	228396	+	Missense_Mutation	SNP	G	G	C	rs1041946		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:228396G>C	ENST00000264932.6	+	6	833	c.718G>C	c.(718-720)Gag>Cag	p.E240Q	SDHA_ENST00000510361.1_Missense_Mutation_p.E192Q|SDHA_ENST00000504309.1_Missense_Mutation_p.E240Q	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	240			E -> Q (in dbSNP:rs1041946).		cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)	p.E240Q(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ACTGTGCATAGAGGACGGGTC	0.418									Familial Paragangliomas																													ENST00000264932.6																			2	Substitution - Missense(2)	p.E240Q(2)	lung(1)|prostate(1)	NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(718-720)Gag>Cag		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						100.0	92.0	95.0					5																	228396		2203	4300	6503	SO:0001583	missense	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:228396G>C	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.718G>C	5.37:g.228396G>C	ENSP00000264932:p.Glu240Gln		Somatic				SDHA_ENST00000510361.1_Missense_Mutation_p.E192Q|SDHA_ENST00000504309.1_Missense_Mutation_p.E240Q	p.E240Q	NM_004168.2	NP_004159.2	WXS	Illumina GAIIx	Phase_I	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		6	833	+			240		E -> Q (in dbSNP:rs1041946).			A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.718G>C	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	c	18.02	3.531241	0.64972	.	.	ENSG00000073578	ENST00000264932;ENST00000504309;ENST00000510361	T;T;T	0.70399	-0.48;-0.48;-0.48	5.23	5.23	0.72850	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.063690	0.64402	U	0.000008	T	0.81973	0.4936	M	0.67397	2.05	0.80722	D	1	P;P;D;P;P	0.69078	0.494;0.614;0.997;0.605;0.605	P;P;D;B;B	0.65874	0.457;0.493;0.939;0.2;0.315	D	0.83437	0.0041	10	0.66056	D	0.02	.	16.7213	0.85410	0.0:0.0:1.0:0.0	rs1041946;rs3181411;rs17410941	192;240;240;240;246	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	Q	240;240;192	ENSP00000264932:E240Q;ENSP00000426514:E240Q;ENSP00000427703:E192Q	ENSP00000264932:E240Q	E	+	1	0	SDHA	281396	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	7.579000	0.82511	2.633000	0.89246	0.644000	0.83932	GAG		0.418	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		4	98	0	0	0	1	0	4	98				
FOLR2	2350	broad.mit.edu	37	11	71929729	71929729	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:71929729C>T	ENST00000298223.6	+	2	288	c.101C>T	c.(100-102)gCc>gTc	p.A34V	FOLR2_ENST00000454954.2_Intron|FOLR2_ENST00000449475.2_Missense_Mutation_p.A51V	NM_000803.4|NM_001113534.1|NM_001113535.1|NM_001113536.1	NP_000794.3|NP_001107006.1|NP_001107007.1|NP_001107008.1	P14207	FOLR2_HUMAN	folate receptor 2 (fetal)	34					folic acid transport (GO:0015884)	anchored component of external side of plasma membrane (GO:0031362)|extracellular region (GO:0005576)|membrane (GO:0016020)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)			breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	TGTATGGATGCCAAGCACCAC	0.542																																						ENST00000449475.2																			0				breast(3)|large_intestine(3)|ovary(1)|skin(1)	8						c.(151-153)gCc>gTc		folate receptor 2 (fetal)	Folic Acid(DB00158)						123.0	79.0	94.0					11																	71929729		2200	4293	6493	SO:0001583	missense	2350				folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity	g.chr11:71929729C>T	AK222539	CCDS8212.1	11q13.3-q14.1	2010-04-08			ENSG00000165457	ENSG00000165457			3793	protein-coding gene	gene with protein product		136425				1133088, 7698003	Standard	NM_000803		Approved		uc009ytf.3	P14207	OTTHUMG00000150394	ENST00000298223.6:c.101C>T	11.37:g.71929729C>T	ENSP00000298223:p.Ala34Val		Somatic				FOLR2_ENST00000298223.6_Missense_Mutation_p.A34V|FOLR2_ENST00000454954.2_Intron	p.A51V			WXS	Illumina GAIIx	Phase_I	P14207	FOLR2_HUMAN			2	450	+			34					Q05CA5|Q6GTE8	Missense_Mutation	SNP	ENST00000298223.6	37	c.152C>T	CCDS8212.1	.	.	.	.	.	.	.	.	.	.	c	20.5	4.000077	0.74818	.	.	ENSG00000165457	ENST00000449475;ENST00000298223;ENST00000413873;ENST00000541003;ENST00000539412;ENST00000536778;ENST00000535625;ENST00000321324;ENST00000538353	T;T;T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	4.38	1.29	0.21616	Folate receptor-like (1);	0.154993	0.41396	U	0.000881	D	0.85860	0.5795	M	0.89478	3.035	0.80722	D	1	D	0.67145	0.996	D	0.68621	0.959	D	0.83367	0.0005	10	0.72032	D	0.01	.	5.21	0.15312	0.0:0.6392:0.1688:0.192	.	34	P14207	FOLR2_HUMAN	V	51;34;51;80;45;49;34;47;34	ENSP00000405638:A51V;ENSP00000298223:A34V;ENSP00000443307:A80V;ENSP00000441547:A45V;ENSP00000438568:A49V;ENSP00000444794:A34V;ENSP00000321957:A47V;ENSP00000440337:A34V	ENSP00000298223:A34V	A	+	2	0	FOLR2	71607377	0.998000	0.40836	0.935000	0.37517	0.997000	0.91878	0.716000	0.25836	0.475000	0.27415	0.655000	0.94253	GCC		0.542	FOLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317923.2	NM_000803		4	203	0	0	0	1	0	4	203				
ZNF75D	7626	broad.mit.edu	37	X	134427961	134427961	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:134427961A>T	ENST00000370766.3	-	3	2815	c.106T>A	c.(106-108)Tac>Aac	p.Y36N	ZNF75D_ENST00000370764.1_Missense_Mutation_p.Y36N|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	36					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TTTGTGCTGTATTTCTTACTC	0.507																																						ENST00000370766.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(106-108)Tac>Aac		zinc finger protein 75D							112.0	108.0	109.0					X																	134427961		2203	4300	6503	SO:0001583	missense	7626				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134427961A>T	S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.106T>A	X.37:g.134427961A>T	ENSP00000359802:p.Tyr36Asn		Somatic				ZNF75D_ENST00000370764.1_Missense_Mutation_p.Y36N|ZNF75D_ENST00000494295.1_Intron	p.Y36N	NM_007131.3	NP_009062.2	WXS	Illumina GAIIx	Phase_I	P51815	ZN75D_HUMAN			3	2815	-			36					A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	ENST00000370766.3	37	c.106T>A	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	A	8.097	0.775906	0.16051	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.05855	3.38;3.38	3.17	-2.57	0.06248	.	.	.	.	.	T	0.03011	0.0089	N	0.19112	0.55	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.04013	0.001;0.001	T	0.47535	-0.9110	9	0.15066	T	0.55	.	2.3189	0.04206	0.3615:0.0:0.2465:0.3919	.	36;36	P51815;A6NK62	ZN75D_HUMAN;.	N	36	ENSP00000359802:Y36N;ENSP00000359800:Y36N	ENSP00000359800:Y36N	Y	-	1	0	ZNF75D	134255627	0.383000	0.25156	0.000000	0.03702	0.047000	0.14425	0.749000	0.26320	-0.692000	0.05128	-0.502000	0.04539	TAC		0.507	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131		8	783	0	0	0	1	0	8	783				
USP31	57478	broad.mit.edu	37	16	23080103	23080103	+	Missense_Mutation	SNP	G	G	A	rs148627286		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:23080103G>A	ENST00000219689.7	-	16	3322	c.3323C>T	c.(3322-3324)tCa>tTa	p.S1108L	USP31_ENST00000567975.1_Missense_Mutation_p.S401L	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CGAAGGAGATGACACGGAGTC	0.582																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(3322-3324)tCa>tTa		ubiquitin specific peptidase 31		G	LEU/SER	0,4394		0,0,2197	95.0	102.0	100.0		3323	6.1	0.0	16	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense	USP31	NM_020718.3	145	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	1108/1353	23080103	1,12993	2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23080103G>A	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.3323C>T	16.37:g.23080103G>A	ENSP00000219689:p.Ser1108Leu		Somatic				USP31_ENST00000567975.1_Missense_Mutation_p.S401L	p.S1108L	NM_020718.3	NP_065769.3	WXS	Illumina GAIIx	Phase_I	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	3322	-			1108			Ser-rich.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.3323C>T	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	G	3.013	-0.203383	0.06180	0.0	1.16E-4	ENSG00000103404	ENST00000219689	T	0.07216	3.21	6.06	6.06	0.98353	.	1.583080	0.04041	N	0.303157	T	0.08223	0.0205	N	0.24115	0.695	0.09310	N	1	B;B	0.24823	0.003;0.112	B;B	0.17722	0.002;0.019	T	0.18053	-1.0349	10	0.35671	T	0.21	-3.8281	8.9219	0.35617	0.1557:0.0:0.8443:0.0	.	1108;401	Q70CQ4;B3KS48	UBP31_HUMAN;.	L	1108	ENSP00000219689:S1108L	ENSP00000219689:S1108L	S	-	2	0	USP31	22987604	0.006000	0.16342	0.019000	0.16419	0.442000	0.32017	1.823000	0.39062	2.879000	0.98667	0.650000	0.86243	TCA		0.582	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		7	363	0	0	0	1	0	7	363				
SUSD5	26032	broad.mit.edu	37	3	33195040	33195040	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:33195040C>A	ENST00000309558.3	-	5	1501	c.1084G>T	c.(1084-1086)Gtg>Ttg	p.V362L		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	362					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTGCTCACCACTGGATCTCCT	0.552																																						ENST00000309558.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1084-1086)Gtg>Ttg		sushi domain containing 5							106.0	110.0	108.0					3																	33195040		2124	4248	6372	SO:0001583	missense	26032				cell adhesion	integral to membrane	hyaluronic acid binding	g.chr3:33195040C>A	AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.1084G>T	3.37:g.33195040C>A	ENSP00000308727:p.Val362Leu		Somatic					p.V362L	NM_015551.1	NP_056366.1	WXS	Illumina GAIIx	Phase_I	O60279	SUSD5_HUMAN			5	1501	-			362						Missense_Mutation	SNP	ENST00000309558.3	37	c.1084G>T	CCDS46787.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.768011	0.00645	.	.	ENSG00000173705	ENST00000309558	T	0.06528	3.29	5.31	1.94	0.25998	.	1.135350	0.06349	N	0.709584	T	0.04679	0.0127	N	0.22421	0.69	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.46569	-0.9182	10	0.09590	T	0.72	-5.6378	7.6367	0.28270	0.0:0.445:0.0:0.555	.	362	O60279	SUSD5_HUMAN	L	362	ENSP00000308727:V362L	ENSP00000308727:V362L	V	-	1	0	SUSD5	33170044	0.000000	0.05858	0.006000	0.13384	0.117000	0.20001	0.038000	0.13862	0.203000	0.20529	0.650000	0.86243	GTG		0.552	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054		12	384	1	0	9.31168e-06	1	1.08177e-05	12	384				
AKAP9	10142	broad.mit.edu	37	7	91735015	91735015	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:91735015G>A	ENST00000359028.2	+	47	11591	c.11366G>A	c.(11365-11367)tGg>tAg	p.W3789*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.W3735*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.W3785*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3789					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)			GTTCGACGGTGGCATCGAGTC	0.333			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.(11365-11367)tGg>tAg		A kinase (PRKA) anchor protein 9							138.0	134.0	136.0					7																	91735015		2203	4300	6503	SO:0001587	stop_gained	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91735015G>A	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.11366G>A	7.37:g.91735015G>A	ENSP00000351922:p.Trp3789*		Somatic				AKAP9_ENST00000356239.3_Nonsense_Mutation_p.W3785*|AKAP9_ENST00000358100.2_Nonsense_Mutation_p.W3735*	p.W3789*			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)		47	11591	+	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)		3789					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Nonsense_Mutation	SNP	ENST00000359028.2	37	c.11366G>A		.	.	.	.	.	.	.	.	.	.	G	54	22.582960	0.99949	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	.	.	.	5.55	5.55	0.83447	.	0.000000	0.35124	N	0.003438	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7069	0.96076	0.0:0.0:1.0:0.0	.	.	.	.	X	3785;3789;3735;3789;1631	.	ENSP00000348573:W3785X	W	+	2	0	AKAP9	91572951	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.343000	0.79319	2.894000	0.99253	0.591000	0.81541	TGG		0.333	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		64	86	0	0	0	1	0	64	86				
TRPM3	80036	broad.mit.edu	37	9	73150893	73150893	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:73150893T>C	ENST00000377110.3	-	25	5343	c.5100A>G	c.(5098-5100)caA>caG	p.Q1700Q	TRPM3_ENST00000357533.2_Silent_p.Q1704Q|TRPM3_ENST00000396285.1_Silent_p.Q1559Q|TRPM3_ENST00000358082.3_Silent_p.Q1562Q|TRPM3_ENST00000423814.3_Silent_p.Q1727Q|TRPM3_ENST00000396280.5_Silent_p.Q1549Q|TRPM3_ENST00000396292.4_Silent_p.Q1572Q|TRPM3_ENST00000377106.1_Silent_p.Q1572Q|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000360823.2_Silent_p.Q1562Q|TRPM3_ENST00000408909.2_Silent_p.Q1559Q|TRPM3_ENST00000377105.1_Silent_p.Q1559Q			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1725					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TTTCAAAGCTTTGGAAAGCCG	0.507																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(5098-5100)caA>caG		transient receptor potential cation channel, subfamily M, member 3							126.0	125.0	125.0					9																	73150893		2203	4300	6503	SO:0001819	synonymous_variant	80036					integral to membrane	calcium channel activity	g.chr9:73150893T>C	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.5100A>G	9.37:g.73150893T>C			Somatic				TRPM3_ENST00000396285.1_Silent_p.Q1559Q|TRPM3_ENST00000360823.2_Silent_p.Q1562Q|TRPM3_ENST00000396292.4_Silent_p.Q1572Q|TRPM3_ENST00000357533.2_Silent_p.Q1704Q|TRPM3_ENST00000423814.3_Silent_p.Q1727Q|TRPM3_ENST00000377105.1_Silent_p.Q1559Q|TRPM3_ENST00000377106.1_Silent_p.Q1572Q|TRPM3_ENST00000408909.2_Silent_p.Q1559Q|TRPM3_ENST00000358082.3_Silent_p.Q1562Q|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396280.5_Silent_p.Q1549Q	p.Q1700Q	NM_001007471.2	NP_001007472.2	WXS	Illumina GAIIx	Phase_I	Q9HCF6	TRPM3_HUMAN			25	5343	-			1725					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377110.3	37	c.5100A>G	CCDS43835.1	.	.	.	.	.	.	.	.	.	.	T	0.022	-1.411637	0.01145	.	.	ENSG00000083067	ENST00000396280	.	.	.	5.72	1.37	0.22104	.	.	.	.	.	T	0.50905	0.1643	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36890	-0.9729	4	.	.	.	-3.8979	4.4559	0.11643	0.2233:0.0:0.3348:0.4419	.	.	.	.	E	1549	.	.	K	-	1	0	TRPM3	72340713	0.998000	0.40836	0.983000	0.44433	0.370000	0.29829	0.564000	0.23563	0.269000	0.21961	0.533000	0.62120	AAG		0.507	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	NM_206945		3	128	0	0	0	1	0	3	128				
BPIFC	254240	broad.mit.edu	37	22	32833840	32833840	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:32833840T>A	ENST00000397452.1	-	8	766		c.e8-2		BPIFC_ENST00000534972.1_Splice_Site|BPIFC_ENST00000300399.3_Splice_Site|BPIFC_ENST00000432451.2_Splice_Site			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C							extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										TGGTTAAAACTAAATAACCAA	0.303																																						ENST00000397452.1																			0											c.e8-2		BPI fold containing family C							62.0	60.0	61.0					22																	32833840		2203	4300	6503	SO:0001630	splice_region_variant	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32833840T>A	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.656-2A>T	22.37:g.32833840T>A			Somatic				BPIFC_ENST00000432451.2_Splice_Site|BPIFC_ENST00000534972.1_Splice_Site|BPIFC_ENST00000300399.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q8NFQ6	BPIL2_HUMAN			8	766	-								A2RRF1	Splice_Site	SNP	ENST00000397452.1	37		CCDS13906.1	.	.	.	.	.	.	.	.	.	.	T	19.66	3.868262	0.72065	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000432451	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5975	0.56478	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	BPIFC	31163840	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	4.171000	0.58236	2.289000	0.77006	0.533000	0.62120	.		0.303	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932	Intron	4	55	0	0	0	1	0	4	55				
VANGL2	57216	broad.mit.edu	37	1	160395071	160395071	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:160395071G>A	ENST00000368061.2	+	8	1943	c.1469G>A	c.(1468-1470)aGc>aAc	p.S490N		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	490					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGGTGGTCAGCACCAAGAAG	0.527																																						ENST00000368061.2																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37						c.(1468-1470)aGc>aAc		VANGL planar cell polarity protein 2							85.0	75.0	78.0					1																	160395071		2203	4300	6503	SO:0001583	missense	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160395071G>A	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.1469G>A	1.37:g.160395071G>A	ENSP00000357040:p.Ser490Asn		Somatic					p.S490N	NM_020335.2	NP_065068.1	WXS	Illumina GAIIx	Phase_I	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		8	1943	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		490					D3DVE9|Q5T212	Missense_Mutation	SNP	ENST00000368061.2	37	c.1469G>A	CCDS30915.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074910	0.36566	.	.	ENSG00000162738	ENST00000368061	T	0.80909	-1.43	4.17	4.17	0.49024	.	0.053632	0.64402	D	0.000001	T	0.57140	0.2033	N	0.11698	0.16	0.48571	D	0.999671	P	0.37914	0.611	B	0.40256	0.324	T	0.64351	-0.6428	10	0.35671	T	0.21	-24.9435	15.1991	0.73120	0.0:0.0:1.0:0.0	.	490	Q9ULK5	VANG2_HUMAN	N	490	ENSP00000357040:S490N	ENSP00000357040:S490N	S	+	2	0	VANGL2	158661695	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.527000	0.45615	2.112000	0.64535	0.591000	0.81541	AGC		0.527	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		4	346	0	0	0	1	0	4	346				
SLC24A3	57419	broad.mit.edu	37	20	19665832	19665832	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:19665832G>A	ENST00000328041.6	+	12	1348	c.1151G>A	c.(1150-1152)gGg>gAg	p.G384E		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	384					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTGGAGAATGGGACAGGGCCC	0.522																																						ENST00000328041.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1150-1152)gGg>gAg		solute carrier family 24 (sodium/potassium/calcium exchanger), member 3							97.0	94.0	95.0					20																	19665832		2203	4300	6503	SO:0001583	missense	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19665832G>A	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1151G>A	20.37:g.19665832G>A	ENSP00000333519:p.Gly384Glu		Somatic					p.G384E	NM_020689.3	NP_065740.2	WXS	Illumina GAIIx	Phase_I	Q9HC58	NCKX3_HUMAN			12	1348	+			384					B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	37	c.1151G>A	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371877	0.82573	.	.	ENSG00000185052	ENST00000328041	T	0.62105	0.05	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000009	T	0.75598	0.3871	L	0.58969	1.84	0.80722	D	1	D	0.64830	0.994	D	0.63033	0.91	T	0.72656	-0.4227	9	.	.	.	.	19.7033	0.96063	0.0:0.0:1.0:0.0	.	384	Q9HC58	NCKX3_HUMAN	E	384	ENSP00000333519:G384E	.	G	+	2	0	SLC24A3	19613832	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.840000	0.99478	2.745000	0.94114	0.563000	0.77884	GGG		0.522	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689		4	161	0	0	0	1	0	4	161				
PTRHD1	391356	broad.mit.edu	37	2	25013321	25013321	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:25013321C>A	ENST00000328379.5	-	2	386	c.382G>T	c.(382-384)Gaa>Taa	p.E128*	CENPO_ENST00000473706.1_5'Flank|CENPO_ENST00000380834.2_5'Flank|PTRHD1_ENST00000487316.1_5'UTR	NM_001013663.1	NP_001013685.1	Q6GMV3	PTRD1_HUMAN	peptidyl-tRNA hydrolase domain containing 1	128						extracellular vesicular exosome (GO:0070062)	aminoacyl-tRNA hydrolase activity (GO:0004045)			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1)	6						TGGCCCACTTCTTCCTTGGGG	0.493																																						ENST00000328379.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1)	6						c.(382-384)Gaa>Taa		peptidyl-tRNA hydrolase domain containing 1							135.0	122.0	126.0					2																	25013321		2203	4300	6503	SO:0001587	stop_gained	391356				translation		aminoacyl-tRNA hydrolase activity|protein tyrosine phosphatase activity	g.chr2:25013321C>A		CCDS33156.1	2p23.3	2011-05-09	2011-05-09	2011-05-09	ENSG00000184924	ENSG00000184924			33782	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 79"""	C2orf79		12477932	Standard	NM_001013663		Approved	LOC391356	uc002rfm.3	Q6GMV3	OTTHUMG00000151978	ENST00000328379.5:c.382G>T	2.37:g.25013321C>A	ENSP00000330389:p.Glu128*		Somatic				PTRHD1_ENST00000487316.1_5'UTR	p.E128*	NM_001013663.1	NP_001013685.1	WXS	Illumina GAIIx	Phase_I	Q6GMV3	PTRD1_HUMAN			2	386	-			128						Nonsense_Mutation	SNP	ENST00000328379.5	37	c.382G>T	CCDS33156.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741106	0.69304	.	.	ENSG00000184924	ENST00000328379	.	.	.	5.08	5.08	0.68730	.	0.310445	0.34676	N	0.003773	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-5.6649	11.7965	0.52102	0.0:0.9159:0.0:0.0841	.	.	.	.	X	128	.	ENSP00000330389:E128X	E	-	1	0	PTRHD1	24866825	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.600000	0.36762	2.793000	0.96121	0.655000	0.94253	GAA		0.493	PTRHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324626.3	NM_001013663		14	147	1	0	1.5739e-10	1	1.96404e-10	14	147				
ATP6V0D1	9114	broad.mit.edu	37	16	67472930	67472930	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:67472930G>A	ENST00000290949.3	-	6	910	c.760C>T	c.(760-762)Cag>Tag	p.Q254*	ATP6V0D1_ENST00000602876.1_Nonsense_Mutation_p.Q177*|ATP6V0D1_ENST00000567694.1_5'UTR|ATP6V0D1_ENST00000540149.1_Nonsense_Mutation_p.Q295*	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	254					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CGAGCCAGCTGCGCCAGGCCC	0.587																																						ENST00000290949.3																			0				large_intestine(3)|lung(3)|urinary_tract(2)	8						c.(760-762)Cag>Tag		ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1							101.0	113.0	109.0					16																	67472930		2198	4300	6498	SO:0001587	stop_gained	9114				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex		g.chr16:67472930G>A	X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"""ATPases / V-type"""	13724	protein-coding gene	gene with protein product		607028	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"""	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.760C>T	16.37:g.67472930G>A	ENSP00000290949:p.Gln254*		Somatic				ATP6V0D1_ENST00000540149.1_Nonsense_Mutation_p.Q295*|ATP6V0D1_ENST00000567694.1_5'UTR|ATP6V0D1_ENST00000602876.1_Nonsense_Mutation_p.Q177*	p.Q254*	NM_004691.4	NP_004682.2	WXS	Illumina GAIIx	Phase_I	P61421	VA0D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	6	910	-		Ovarian(137;0.0563)	254					P12953|Q02547	Nonsense_Mutation	SNP	ENST00000290949.3	37	c.760C>T	CCDS10838.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.209314	0.39003	.	.	ENSG00000159720	ENST00000290949;ENST00000426604;ENST00000540149	.	.	.	4.89	4.89	0.63831	.	0.058298	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-19.8434	16.8626	0.86021	0.0:0.0:1.0:0.0	.	.	.	.	X	254;177;295	.	ENSP00000290949:Q254X	Q	-	1	0	ATP6V0D1	66030431	1.000000	0.71417	0.993000	0.49108	0.054000	0.15201	7.856000	0.86956	2.555000	0.86185	0.650000	0.86243	CAG		0.587	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268835.1	NM_004691		6	309	0	0	0	1	0	6	309				
FOXN1	8456	broad.mit.edu	37	17	26856137	26856137	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:26856137C>G	ENST00000226247.2	+	4	754	c.725C>G	c.(724-726)cCc>cGc	p.P242R	FOXN1_ENST00000579795.1_Missense_Mutation_p.P242R	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	242					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GGCAGCTACCCCATACCCTAC	0.582																																						ENST00000226247.2																			0				endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(724-726)cCc>cGc		forkhead box N1							124.0	107.0	113.0					17																	26856137		2203	4300	6503	SO:0001583	missense	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:26856137C>G	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.725C>G	17.37:g.26856137C>G	ENSP00000226247:p.Pro242Arg		Somatic				FOXN1_ENST00000579795.1_Missense_Mutation_p.P242R	p.P242R	NM_003593.2	NP_003584.2	WXS	Illumina GAIIx	Phase_I	O15353	FOXN1_HUMAN			4	754	+	Lung NSC(42;0.00431)		242					B2R9Q7|O15352	Missense_Mutation	SNP	ENST00000226247.2	37	c.725C>G	CCDS11232.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.677140	0.47886	.	.	ENSG00000109101	ENST00000226247	D	0.93906	-3.31	5.94	5.94	0.96194	.	0.068271	0.64402	D	0.000008	D	0.90283	0.6961	L	0.32530	0.975	0.45172	D	0.998183	B	0.15719	0.014	B	0.15870	0.014	D	0.84357	0.0536	10	0.33141	T	0.24	.	20.3633	0.98874	0.0:1.0:0.0:0.0	.	242	O15353	FOXN1_HUMAN	R	242	ENSP00000226247:P242R	ENSP00000226247:P242R	P	+	2	0	FOXN1	23880264	0.843000	0.29541	0.998000	0.56505	0.808000	0.45660	3.062000	0.49971	2.826000	0.97356	0.561000	0.74099	CCC		0.582	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1			7	290	0	0	0	1	0	7	290				
GOLGA3	2802	broad.mit.edu	37	12	133372453	133372453	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:133372453A>G	ENST00000450791.2	-	10	2637	c.2454T>C	c.(2452-2454)gcT>gcC	p.A818A	GOLGA3_ENST00000204726.3_Silent_p.A818A|GOLGA3_ENST00000545875.1_Silent_p.A818A|GOLGA3_ENST00000456883.2_Silent_p.A818A|GOLGA3_ENST00000537452.1_Silent_p.A818A			Q08378	GOGA3_HUMAN	golgin A3	818					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CGGATTTGATAGCTAATTCTT	0.433																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2452-2454)gcT>gcC		golgin A3							122.0	123.0	123.0					12																	133372453		2203	4300	6503	SO:0001819	synonymous_variant	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133372453A>G	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.2454T>C	12.37:g.133372453A>G			Somatic				GOLGA3_ENST00000545875.1_Silent_p.A818A|GOLGA3_ENST00000450791.2_Silent_p.A818A|GOLGA3_ENST00000537452.1_Silent_p.A818A|GOLGA3_ENST00000456883.2_Silent_p.A818A	p.A818A	NM_005895.3	NP_005886.2	WXS	Illumina GAIIx	Phase_I	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	11	3012	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	818					A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Silent	SNP	ENST00000450791.2	37	c.2454T>C	CCDS9281.1																																																																																				0.433	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		4	263	0	0	0	1	0	4	263				
SLC4A11	83959	broad.mit.edu	37	20	3214646	3214646	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:3214646G>A	ENST00000380056.3	-	5	621	c.574C>T	c.(574-576)Cac>Tac	p.H192Y	SLC4A11_ENST00000380059.3_Missense_Mutation_p.H219Y|SLC4A11_ENST00000539553.2_Missense_Mutation_p.H176Y	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	192					bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GACAGCAGGTGGACTGAGGAA	0.652																																					NSCLC(190;922 2139 10266 10292 38692)	ENST00000380059.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						c.(655-657)Cac>Tac		solute carrier family 4, sodium borate transporter, member 11							95.0	95.0	95.0					20																	3214646		2203	4300	6503	SO:0001583	missense	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3214646G>A	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.574C>T	20.37:g.3214646G>A	ENSP00000369396:p.His192Tyr		Somatic				SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Missense_Mutation_p.H176Y|SLC4A11_ENST00000380056.3_Missense_Mutation_p.H192Y	p.H219Y	NM_001174090.1	NP_001167561.1	WXS	Illumina GAIIx	Phase_I	Q8NBS3	S4A11_HUMAN			6	756	-			192					B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	c.655C>T	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101071	0.76983	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553;ENST00000437836	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	5.07	5.07	0.68467	Phosphotransferase/anion transporter (1);	0.339170	0.31268	N	0.007953	D	0.84871	0.5568	M	0.68952	2.095	0.80722	D	1	D;D;D	0.65815	0.984;0.995;0.995	P;P;P	0.57846	0.828;0.821;0.677	D	0.86351	0.1711	10	0.59425	D	0.04	.	17.4431	0.87570	0.0:0.0:1.0:0.0	.	176;219;192	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	Y	219;192;176;176	ENSP00000369399:H219Y;ENSP00000369396:H192Y;ENSP00000441370:H176Y;ENSP00000404271:H176Y	ENSP00000369396:H192Y	H	-	1	0	SLC4A11	3162646	1.000000	0.71417	0.963000	0.40424	0.302000	0.27658	9.796000	0.99103	2.357000	0.79964	0.563000	0.77884	CAC		0.652	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			4	62	0	0	0	1	0	4	62				
SESTD1	91404	broad.mit.edu	37	2	179974674	179974674	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:179974674G>A	ENST00000428443.3	-	18	2359	c.2043C>T	c.(2041-2043)ctC>ctT	p.L681L		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	681							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GCTGCCTTTTGAGATTAACTA	0.418																																						ENST00000428443.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30						c.(2041-2043)ctC>ctT		SEC14 and spectrin domains 1							220.0	191.0	201.0					2																	179974674		2203	4300	6503	SO:0001819	synonymous_variant	91404				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	g.chr2:179974674G>A	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.2043C>T	2.37:g.179974674G>A			Somatic					p.L681L	NM_178123.4	NP_835224.3	WXS	Illumina GAIIx	Phase_I	Q86VW0	SESD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)		18	2359	-			681					Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Silent	SNP	ENST00000428443.3	37	c.2043C>T	CCDS33338.1																																																																																				0.418	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		4	127	0	0	0	1	0	4	127				
AKR1B10	57016	broad.mit.edu	37	7	134217801	134217801	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:134217801G>A	ENST00000359579.4	+	4	717	c.397G>A	c.(397-399)Ggt>Agt	p.G133S	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	133					cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						TAATGCCATCGGTGGAAAAGC	0.463																																						ENST00000359579.4																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						c.(397-399)Ggt>Agt		aldo-keto reductase family 1, member B10 (aldose reductase)							181.0	173.0	176.0					7																	134217801		2203	4300	6503	SO:0001583	missense	57016				cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	g.chr7:134217801G>A	AF052577	CCDS5832.1	7q33	2010-04-08			ENSG00000198074	ENSG00000198074		"""Aldo-keto reductases"""	382	protein-coding gene	gene with protein product	"""aldose reductase-like 1"", ""aldo-keto reductase family 1, member B11 (aldose reductase-like)"", ""aldose reductase-like peptide"", ""aldose reductase-related protein"", ""small intestine reductase"""	604707		AKR1B11		9765596, 9565553	Standard	NM_020299		Approved	AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn	uc003vrr.3	O60218	OTTHUMG00000155356	ENST00000359579.4:c.397G>A	7.37:g.134217801G>A	ENSP00000352584:p.Gly133Ser		Somatic				AKR1B10_ENST00000475559.1_3'UTR	p.G133S	NM_020299.4	NP_064695.3	WXS	Illumina GAIIx	Phase_I	O60218	AK1BA_HUMAN			4	717	+			133					A4D1P1|O75890|Q6FHF3|Q8IWZ1	Missense_Mutation	SNP	ENST00000359579.4	37	c.397G>A	CCDS5832.1	.	.	.	.	.	.	.	.	.	.	C	9.141	1.013867	0.19277	.	.	ENSG00000198074	ENST00000359579	T	0.16324	2.35	4.68	-9.37	0.00626	NADP-dependent oxidoreductase domain (3);	1.460050	0.03822	N	0.267675	T	0.06645	0.0170	N	0.11064	0.09	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23583	-1.0184	10	0.34782	T	0.22	.	2.637	0.04960	0.0982:0.4724:0.1531:0.2762	.	133	O60218	AK1BA_HUMAN	S	133	ENSP00000352584:G133S	ENSP00000352584:G133S	G	+	1	0	AKR1B10	133868341	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.518000	0.00953	-2.767000	0.00367	0.556000	0.70494	GGT		0.463	AKR1B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339615.1	NM_020299		8	1049	0	0	0	1	0	8	1049				
SLC20A1	6574	broad.mit.edu	37	2	113417337	113417337	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:113417337A>G	ENST00000272542.3	+	8	2144	c.1605A>G	c.(1603-1605)gtA>gtG	p.V535V		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	535					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GCAATGACGTAAGGTCAGTTG	0.458																																						ENST00000272542.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						c.(1603-1605)gtA>gtG		solute carrier family 20 (phosphate transporter), member 1							95.0	89.0	91.0					2																	113417337		2203	4300	6503	SO:0001819	synonymous_variant	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113417337A>G		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.1605A>G	2.37:g.113417337A>G			Somatic					p.V535V	NM_005415.4	NP_005406.3	WXS	Illumina GAIIx	Phase_I	Q8WUM9	S20A1_HUMAN			8	2144	+			535					Q08344|Q6DHX8|Q9UQ82	Silent	SNP	ENST00000272542.3	37	c.1605A>G	CCDS2099.1																																																																																				0.458	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		3	172	0	0	0	1	0	3	172				
C18orf21	83608	broad.mit.edu	37	18	33557371	33557371	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:33557371A>T	ENST00000592875.1	+	4	946		c.e4-1		C18orf21_ENST00000333234.5_Splice_Site	NM_031446.4	NP_113634.3	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21											endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						TTTTTATGGTAGTTGATCACT	0.358																																						ENST00000592875.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						c.e4-1		chromosome 18 open reading frame 21							68.0	64.0	66.0					18																	33557371		2203	4300	6503	SO:0001630	splice_region_variant	83608							g.chr18:33557371A>T	BC025950	CCDS11916.2, CCDS56064.1, CCDS74212.1	18q12.2	2004-05-05			ENSG00000141428	ENSG00000141428			28802	protein-coding gene	gene with protein product						12477932	Standard	NM_031446		Approved	PNAS-131, PNAS-124, HsT3108	uc002kzc.3	Q32NC0	OTTHUMG00000128531	ENST00000592875.1:c.301-1A>T	18.37:g.33557371A>T			Somatic				C18orf21_ENST00000333234.5_Splice_Site		NM_031446.4	NP_113634.3	WXS	Illumina GAIIx	Phase_I	Q32NC0	CR021_HUMAN			4	946	+								Q6GW03|Q9BXV6|Q9BXW2	Splice_Site	SNP	ENST00000592875.1	37		CCDS11916.2	.	.	.	.	.	.	.	.	.	.	A	16.48	3.134170	0.56828	.	.	ENSG00000141428	ENST00000333234;ENST00000269194	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3546	0.55167	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C18orf21	31811369	1.000000	0.71417	0.812000	0.32479	0.709000	0.40893	4.947000	0.63583	2.234000	0.73211	0.528000	0.53228	.		0.358	C18orf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250364.1	NM_031446	Intron	5	152	0	0	0	1	0	5	152				
SERINC1	57515	broad.mit.edu	37	6	122774917	122774917	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:122774917G>T	ENST00000339697.4	-	5	671	c.587C>A	c.(586-588)gCa>gAa	p.A196E		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	196					L-serine transport (GO:0015825)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		AAGCTTACCTGCATACCAACA	0.368																																						ENST00000368454.1																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13						c.(586-588)gCa>gAa		serine incorporator 1							146.0	128.0	134.0					6																	122774917		2203	4300	6503	SO:0001583	missense	57515				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding	g.chr6:122774917G>T	AF087902	CCDS5125.1	6q22.32	2006-02-09	2005-10-14	2005-10-14	ENSG00000111897	ENSG00000111897			13464	protein-coding gene	gene with protein product		614548	"""tumor differentially expressed 2"""	TDE2		10637174	Standard	NM_020755		Approved	TMS-2, TDE1L, KIAA1253	uc003pyy.1	Q9NRX5	OTTHUMG00000015487	ENST00000339697.4:c.587C>A	6.37:g.122774917G>T	ENSP00000342962:p.Ala196Glu		Somatic				SERINC1_ENST00000339697.3_Missense_Mutation_p.A196E	p.A196E			WXS	Illumina GAIIx	Phase_I	Q9NRX5	SERC1_HUMAN		GBM - Glioblastoma multiforme(226;0.126)	7	916	-			196					B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Missense_Mutation	SNP	ENST00000339697.4	37	c.587C>A	CCDS5125.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785147	0.90282	.	.	ENSG00000111897	ENST00000339697;ENST00000368454	T;T	0.15256	2.44;2.44	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.31199	0.0789	M	0.89715	3.055	0.80722	D	1	B	0.23058	0.079	B	0.39935	0.314	T	0.21143	-1.0254	10	0.62326	D	0.03	-13.1617	19.2537	0.93935	0.0:0.0:1.0:0.0	.	196	Q9NRX5	SERC1_HUMAN	E	196	ENSP00000342962:A196E;ENSP00000357439:A196E	ENSP00000342962:A196E	A	-	2	0	SERINC1	122816616	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.968000	0.87980	2.565000	0.86533	0.655000	0.94253	GCA		0.368	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042031.2	NM_020755		33	231	1	0	3.93418e-24	1	5.17239e-24	33	231				
SLC24A5	283652	broad.mit.edu	37	15	48434343	48434343	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:48434343T>A	ENST00000341459.3	+	9	1371	c.1298T>A	c.(1297-1299)gTa>gAa	p.V433E	SLC24A5_ENST00000449382.2_Missense_Mutation_p.V373E|MYEF2_ENST00000324324.7_3'UTR|MYEF2_ENST00000267836.6_3'UTR	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	433					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		CCTGCAGAAGTAAACAGCAGA	0.358																																						ENST00000341459.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1297-1299)gTa>gAa		solute carrier family 24 (sodium/potassium/calcium exchanger), member 5							190.0	197.0	195.0					15																	48434343		2198	4297	6495	SO:0001583	missense	283652				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr15:48434343T>A	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.1298T>A	15.37:g.48434343T>A	ENSP00000341550:p.Val433Glu		Somatic				MYEF2_ENST00000267836.6_3'UTR|SLC24A5_ENST00000449382.2_Missense_Mutation_p.V373E|MYEF2_ENST00000324324.7_3'UTR	p.V433E	NM_205850.2	NP_995322.1	WXS	Illumina GAIIx	Phase_I	Q71RS6	NCKX5_HUMAN		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)	9	1371	+		all_lung(180;0.00217)	433					A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP	ENST00000341459.3	37	c.1298T>A	CCDS10128.1	.	.	.	.	.	.	.	.	.	.	T	19.81	3.897013	0.72639	.	.	ENSG00000188467	ENST00000341459;ENST00000449382	T;T	0.64085	-0.08;-0.08	5.86	5.86	0.93980	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	D	0.83184	0.5199	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.86671	0.1910	10	0.87932	D	0	.	16.5602	0.84551	0.0:0.0:0.0:1.0	.	373;433	A5X8Z9;Q71RS6	.;NCKX5_HUMAN	E	433;373	ENSP00000341550:V433E;ENSP00000389966:V373E	ENSP00000341550:V433E	V	+	2	0	SLC24A5	46221635	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.547000	0.82146	2.367000	0.80283	0.528000	0.53228	GTA		0.358	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850		7	259	0	0	0	1	0	7	259				
ASIC1	41	broad.mit.edu	37	12	50472314	50472314	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:50472314G>A	ENST00000447966.2	+	6	1177	c.948G>A	c.(946-948)acG>acA	p.T316T	ASIC1_ENST00000228468.4_Silent_p.T316T|ASIC1_ENST00000552438.1_Silent_p.T350T	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	316					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	ACTGTGAGACGCGCTACCTGG	0.612																																						ENST00000228468.4																			0											c.(946-948)acG>acA		acid-sensing (proton-gated) ion channel 1	Amiloride(DB00594)						158.0	157.0	157.0					12																	50472314		2203	4300	6503	SO:0001819	synonymous_variant	41				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50472314G>A	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.948G>A	12.37:g.50472314G>A			Somatic				ASIC1_ENST00000552438.1_Silent_p.T350T|ASIC1_ENST00000447966.2_Silent_p.T316T	p.T316T	NM_020039.3	NP_064423.2	WXS	Illumina GAIIx	Phase_I	P78348	ACCN2_HUMAN			6	1333	+			316					A3KN86|E5KBL7|P78349|Q96CV2	Silent	SNP	ENST00000447966.2	37	c.948G>A	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	G	6.774	0.511730	0.12944	.	.	ENSG00000110881	ENST00000453327	.	.	.	4.35	-8.71	0.00848	.	.	.	.	.	T	0.44030	0.1274	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64639	-0.6360	4	.	.	.	-17.4443	5.1696	0.15103	0.2739:0.4571:0.0875:0.1815	.	.	.	.	H	184	.	.	R	+	2	0	ACCN2	48758581	0.000000	0.05858	0.016000	0.15963	0.963000	0.63663	-5.657000	0.00106	-5.729000	0.00010	-1.773000	0.00660	CGC		0.612	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		13	920	0	0	0	1	0	13	920				
ZNF740	283337	broad.mit.edu	37	12	53580224	53580224	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:53580224G>T	ENST00000416904.3	+	6	868	c.423G>T	c.(421-423)aaG>aaT	p.K141N		NM_001004304.3	NP_001004304.1	Q8NDX6	ZN740_HUMAN	zinc finger protein 740	141					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)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)	3						TCATCCAGAAGTACCACCTGG	0.502																																						ENST00000416904.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)	3						c.(421-423)aaG>aaT		zinc finger protein 740							75.0	79.0	78.0					12																	53580224		2052	4186	6238	SO:0001583	missense	283337				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr12:53580224G>T	BC053557	CCDS44896.1	12q13.13	2013-01-08				ENSG00000139651		"""Zinc fingers, C2H2-type"""	27465	protein-coding gene	gene with protein product							Standard	NM_001004304		Approved	Zfp740	uc001scb.4	Q8NDX6		ENST00000416904.3:c.423G>T	12.37:g.53580224G>T	ENSP00000409463:p.Lys141Asn		Somatic					p.K141N	NM_001004304.3	NP_001004304.1	WXS	Illumina GAIIx	Phase_I	Q8NDX6	ZN740_HUMAN			6	868	+			141					A8K9M9	Missense_Mutation	SNP	ENST00000416904.3	37	c.423G>T	CCDS44896.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030085	0.75504	.	.	ENSG00000139651	ENST00000416904	T	0.61627	0.09	5.75	3.93	0.45458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000003	T	0.55257	0.1909	L	0.41632	1.29	0.47737	D	0.999508	D	0.65815	0.995	P	0.51193	0.662	T	0.50415	-0.8831	10	0.30854	T	0.27	-12.223	11.8272	0.52273	0.1451:0.0:0.8549:0.0	.	141	Q8NDX6	ZN740_HUMAN	N	141	ENSP00000409463:K141N	ENSP00000409463:K141N	K	+	3	2	ZNF740	51866491	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.329000	0.33770	0.900000	0.36469	0.655000	0.94253	AAG		0.502	ZNF740-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406890.2	NM_001004304		19	52	1	0	1.96292e-10	1	2.43916e-10	19	52				
ANO4	121601	broad.mit.edu	37	12	101295457	101295457	+	5'UTR	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:101295457G>A	ENST00000392977.3	+	0	104				ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000551148.1_3'UTR|ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000538618.1_Missense_Mutation_p.R131H			Q32M45	ANO4_HUMAN	anoctamin 4						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GCTGAAAAGCGTTTGCAAATC	0.507										HNSCC(74;0.22)																												ENST00000538618.1																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(391-393)cGt>cAt		anoctamin 4																																				SO:0001623	5_prime_UTR_variant	121601					chloride channel complex	chloride channel activity	g.chr12:101295457G>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.-107G>A	12.37:g.101295457G>A		HNSCC(74;0.22)	Somatic				ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000392977.3_5'UTR|ANO4_ENST00000551148.1_3'UTR|ANO4_ENST00000299222.9_5'UTR	p.R131H			WXS	Illumina GAIIx	Phase_I	Q32M45	ANO4_HUMAN			4	392	+			0					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.392G>A		.	.	.	.	.	.	.	.	.	.	G	21.5	4.162303	0.78226	.	.	ENSG00000151572	ENST00000538618	T	0.74526	-0.85	5.45	2.64	0.31445	.	.	.	.	.	T	0.73257	0.3564	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69939	-0.5009	6	0.52906	T	0.07	.	4.5118	0.11915	0.299:0.0:0.5553:0.1457	.	.	.	.	H	131	ENSP00000443751:R131H	ENSP00000443751:R131H	R	+	2	0	ANO4	99819588	0.813000	0.29090	0.999000	0.59377	0.980000	0.70556	0.649000	0.24843	0.674000	0.31244	0.655000	0.94253	CGT		0.507	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		20	184	0	0	0	1	0	20	184				
CUX2	23316	broad.mit.edu	37	12	111776090	111776090	+	Splice_Site	SNP	G	G	A	rs574082050		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:111776090G>A	ENST00000261726.6	+	20	3351	c.3197G>A	c.(3196-3198)gGg>gAg	p.G1066E	RNA5SP373_ENST00000517271.1_RNA	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1066					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CTATCCCCAGGGCAGCGGCTG	0.622																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.e20-1		cut-like homeobox 2							43.0	48.0	46.0					12																	111776090		1946	4139	6085	SO:0001630	splice_region_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111776090G>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3197-1G>A	12.37:g.111776090G>A			Somatic					p.G1066_splice	NM_015267.3	NP_056082.2	WXS	Illumina GAIIx	Phase_I	O14529	CUX2_HUMAN			20	3351	+			1066					A7E2Y4	Splice_Site	SNP	ENST00000261726.6	37	c.3196_splice	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813647	0.90790	.	.	ENSG00000111249	ENST00000261726	T	0.58358	0.34	5.32	5.32	0.75619	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.74703	0.3751	M	0.81497	2.545	0.80722	D	1	D	0.67145	0.996	D	0.72982	0.979	T	0.76340	-0.2995	9	.	.	.	.	19.0362	0.92980	0.0:0.0:1.0:0.0	.	1066	O14529	CUX2_HUMAN	E	1066	ENSP00000261726:G1066E	.	G	+	2	0	CUX2	110260473	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	9.813000	0.99286	2.495000	0.84180	0.655000	0.94253	GGG		0.622	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267	Missense_Mutation	13	28	0	0	0	1	0	13	28				
DNAH2	146754	broad.mit.edu	37	17	7691473	7691473	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:7691473A>G	ENST00000572933.1	+	44	8271	c.6811A>G	c.(6811-6813)Aac>Gac	p.N2271D	DNAH2_ENST00000389173.2_Missense_Mutation_p.N2271D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2271	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TAAGAAGGACAACTGCAAGGA	0.557																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(6811-6813)Aac>Gac		dynein, axonemal, heavy chain 2							63.0	53.0	56.0					17																	7691473		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7691473A>G	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6811A>G	17.37:g.7691473A>G	ENSP00000458355:p.Asn2271Asp		Somatic				DNAH2_ENST00000389173.2_Missense_Mutation_p.N2271D	p.N2271D			WXS	Illumina GAIIx	Phase_I	Q9P225	DYH2_HUMAN			44	8271	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2271			AAA 2 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.6811A>G	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	12.85	2.061299	0.36373	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.25579	1.79	4.84	3.75	0.43078	.	0.127745	0.49916	D	0.000131	T	0.24084	0.0583	L	0.58969	1.84	0.80722	D	1	B	0.25850	0.136	B	0.28553	0.091	T	0.03630	-1.1018	10	0.25106	T	0.35	.	8.8512	0.35201	0.8329:0.0:0.0:0.1671	.	2271	Q9P225	DYH2_HUMAN	D	2271	ENSP00000373825:N2271D	ENSP00000353818:N2271D	N	+	1	0	DNAH2	7632198	0.535000	0.26370	0.614000	0.29051	0.920000	0.55202	1.113000	0.31184	0.853000	0.35312	0.459000	0.35465	AAC		0.557	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		10	327	0	0	0	1	0	10	327				
ZNF461	92283	broad.mit.edu	37	19	37130712	37130712	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:37130712T>A	ENST00000588268.1	-	6	762	c.535A>T	c.(535-537)Act>Tct	p.T179S	ZNF461_ENST00000360357.4_Missense_Mutation_p.T156S|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	179					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)			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTGAGTAAAGTATGTTGGCTA	0.333																																						ENST00000588268.1																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29						c.(535-537)Act>Tct		zinc finger protein 461							183.0	178.0	180.0					19																	37130712		1826	4085	5911	SO:0001583	missense	92283				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37130712T>A	BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.535A>T	19.37:g.37130712T>A	ENSP00000467931:p.Thr179Ser		Somatic				ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Missense_Mutation_p.T156S	p.T179S	NM_153257.2	NP_694989.2	WXS	Illumina GAIIx	Phase_I	Q8TAF7	ZN461_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	762	-	Esophageal squamous(110;0.198)		179					A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	ENST00000588268.1	37	c.535A>T	CCDS54257.1	.	.	.	.	.	.	.	.	.	.	T	2.758	-0.258575	0.05791	.	.	ENSG00000197808	ENST00000396893;ENST00000360357;ENST00000540605;ENST00000396892	T	0.05580	3.42	3.87	0.253	0.15551	.	.	.	.	.	T	0.03305	0.0096	L	0.29908	0.895	0.09310	N	1	B;B;B	0.14438	0.003;0.01;0.01	B;B;B	0.06405	0.002;0.002;0.002	T	0.46735	-0.9170	9	0.05525	T	0.97	.	2.5386	0.04720	0.2011:0.2342:0.0:0.5647	.	156;101;179	B4DRP8;Q59G30;Q8TAF7	.;.;ZN461_HUMAN	S	179;156;52;114	ENSP00000353515:T156S	ENSP00000353515:T156S	T	-	1	0	ZNF461	41822552	0.015000	0.18098	0.018000	0.16275	0.864000	0.49448	0.458000	0.21892	0.171000	0.19730	0.533000	0.62120	ACT		0.333	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257		5	252	0	0	0	1	0	5	252				
ANKRD52	283373	broad.mit.edu	37	12	56638938	56638938	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:56638938C>G	ENST00000267116.7	-	22	2562	c.2441G>C	c.(2440-2442)aGc>aCc	p.S814T	ANKRD52_ENST00000548241.1_5'Flank	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	814										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CGAAAACGGGCTGTGTTCAAG	0.522																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(2440-2442)aGc>aCc		ankyrin repeat domain 52							182.0	164.0	170.0					12																	56638938		2011	4189	6200	SO:0001583	missense	283373						protein binding	g.chr12:56638938C>G	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.2441G>C	12.37:g.56638938C>G	ENSP00000267116:p.Ser814Thr		Somatic					p.S814T	NM_173595.3	NP_775866.2	WXS	Illumina GAIIx	Phase_I	Q8NB46	ANR52_HUMAN			22	2562	-			814					A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.2441G>C	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214481	0.39102	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.15834	2.39	4.12	4.12	0.48240	Ankyrin repeat-containing domain (4);	0.113287	0.64402	D	0.000012	T	0.13030	0.0316	L	0.38692	1.165	0.32276	N	0.568235	B	0.16802	0.019	B	0.19946	0.027	T	0.04537	-1.0944	10	0.72032	D	0.01	.	6.4057	0.21662	0.0:0.7963:0.0:0.2037	.	814	Q8NB46	ANR52_HUMAN	T	814	ENSP00000267116:S814T	ENSP00000267116:S814T	S	-	2	0	ANKRD52	54925205	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.216000	0.51176	2.317000	0.78254	0.462000	0.41574	AGC		0.522	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		12	920	0	0	0	1	0	12	920				
TP53BP1	7158	broad.mit.edu	37	15	43707823	43707823	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:43707823C>T	ENST00000263801.3	-	23	5295	c.5043G>A	c.(5041-5043)aaG>aaA	p.K1681K	TP53BP1_ENST00000382039.3_Silent_p.K1636K|TP53BP1_ENST00000382044.4_Silent_p.K1686K|TP53BP1_ENST00000450115.2_Silent_p.K1686K	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1681					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGCGACCTCGCTTGGCAGGGG	0.507								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(5041-5043)aaG>aaA	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							129.0	113.0	119.0					15																	43707823		2201	4298	6499	SO:0001819	synonymous_variant	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43707823C>T	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.5043G>A	15.37:g.43707823C>T			Somatic				TP53BP1_ENST00000450115.2_Silent_p.K1686K|TP53BP1_ENST00000382039.3_Silent_p.K1636K|TP53BP1_ENST00000382044.4_Silent_p.K1686K	p.K1681K	NM_005657.2	NP_005648.1	WXS	Illumina GAIIx	Phase_I	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	23	5295	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1681					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Silent	SNP	ENST00000263801.3	37	c.5043G>A	CCDS10096.1																																																																																				0.507	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			4	435	0	0	0	1	0	4	435				
KIAA1551	55196	broad.mit.edu	37	12	32145408	32145408	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:32145408C>A	ENST00000312561.4	+	6	5597	c.5183C>A	c.(5182-5184)aCc>aAc	p.T1728N	KIAA1551_ENST00000535596.1_3'UTR	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1728																	ATGTTTCAAACCTACAAACAG	0.368																																						ENST00000312561.4																			0											c.(5182-5184)aCc>aAc		KIAA1551							142.0	157.0	152.0					12																	32145408		2203	4300	6503	SO:0001583	missense	55196							g.chr12:32145408C>A	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.5183C>A	12.37:g.32145408C>A	ENSP00000310338:p.Thr1728Asn		Somatic				KIAA1551_ENST00000535596.1_3'UTR	p.T1728N	NM_018169.3	NP_060639.3	WXS	Illumina GAIIx	Phase_I					6	5597	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.5183C>A	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	15.72	2.916037	0.52546	.	.	ENSG00000174718	ENST00000312561	T	0.32515	1.45	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000017	T	0.56262	0.1973	M	0.67953	2.075	0.44927	D	0.997941	D	0.89917	1.0	D	0.97110	1.0	T	0.57406	-0.7817	10	0.87932	D	0	.	17.9462	0.89039	0.0:1.0:0.0:0.0	.	1728	Q9HCM1	CL035_HUMAN	N	1728	ENSP00000310338:T1728N	ENSP00000310338:T1728N	T	+	2	0	C12orf35	32036675	1.000000	0.71417	0.984000	0.44739	0.007000	0.05969	2.088000	0.41663	2.649000	0.89929	0.655000	0.94253	ACC		0.368	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		20	204	1	0	0.014323	1	0.0152279	20	204				
FCHSD1	89848	broad.mit.edu	37	5	141026213	141026213	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:141026213C>T	ENST00000435817.2	-	11	1051	c.1001G>A	c.(1000-1002)aGc>aAc	p.S334N	FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Missense_Mutation_p.S332N|FCHSD1_ENST00000522126.1_Missense_Mutation_p.S258N	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	334								p.S334I(1)	FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAGCTCGGCTGGTCAAGCG	0.602																																						ENST00000435817.2																		FCHSD1/BRAF(2)	1	Substitution - Missense(1)	p.S334I(1)	lung(1)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1000-1002)aGc>aAc		FCH and double SH3 domains 1							35.0	39.0	38.0					5																	141026213		2008	4153	6161	SO:0001583	missense	89848							g.chr5:141026213C>T	AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.1001G>A	5.37:g.141026213C>T	ENSP00000399259:p.Ser334Asn		Somatic				FCHSD1_ENST00000522126.1_Missense_Mutation_p.S258N|FCHSD1_ENST00000522783.1_Missense_Mutation_p.S332N|FCHSD1_ENST00000523856.1_5'UTR	p.S334N	NM_033449.2	NP_258260.1	WXS	Illumina GAIIx	Phase_I	Q86WN1	FCSD1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	1051	-			334					Q6UX75|Q86Y77|Q9NXX8	Missense_Mutation	SNP	ENST00000435817.2	37	c.1001G>A	CCDS47295.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.734958	0.48939	.	.	ENSG00000197948	ENST00000435817;ENST00000522126;ENST00000522783	T;T;T	0.44482	1.67;0.92;1.32	5.17	2.36	0.29203	.	0.140580	0.43260	D	0.000590	T	0.24586	0.0596	L	0.29908	0.895	0.34320	D	0.686515	B	0.11235	0.004	B	0.12837	0.008	T	0.14117	-1.0484	10	0.42905	T	0.14	-15.0758	2.031	0.03529	0.1205:0.427:0.217:0.2355	.	334	Q86WN1	FCSD1_HUMAN	N	334;258;332	ENSP00000399259:S334N;ENSP00000427796:S258N;ENSP00000428677:S332N	ENSP00000399259:S334N	S	-	2	0	FCHSD1	141006397	0.998000	0.40836	0.753000	0.31225	0.982000	0.71751	0.611000	0.24268	0.686000	0.31488	0.462000	0.41574	AGC		0.602	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2	NM_033449		5	16	0	0	0	1	0	5	16				
SCMH1	22955	broad.mit.edu	37	1	41579133	41579133	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:41579133C>A	ENST00000326197.7	-	7	836	c.537G>T	c.(535-537)aaG>aaT	p.K179N	SCMH1_ENST00000361191.5_Missense_Mutation_p.K118N|SCMH1_ENST00000337495.5_Missense_Mutation_p.K189N|SCMH1_ENST00000372595.1_Missense_Mutation_p.K118N|SCMH1_ENST00000402904.2_Missense_Mutation_p.K179N|SCMH1_ENST00000397174.2_Missense_Mutation_p.K159N|SCMH1_ENST00000372597.1_Missense_Mutation_p.K132N|SCMH1_ENST00000397171.2_Missense_Mutation_p.K118N|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000361705.3_Missense_Mutation_p.K132N|SCMH1_ENST00000372596.1_Missense_Mutation_p.K118N					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				AATGAGGGTTCTTCCTGTCCA	0.512																																						ENST00000402904.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15						c.(535-537)aaG>aaT		sex comb on midleg homolog 1 (Drosophila)							81.0	81.0	81.0					1																	41579133		2203	4300	6503	SO:0001583	missense	22955				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:41579133C>A	AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.537G>T	1.37:g.41579133C>A	ENSP00000318094:p.Lys179Asn		Somatic				SCMH1_ENST00000361191.5_Missense_Mutation_p.K118N|SCMH1_ENST00000372595.1_Missense_Mutation_p.K118N|SCMH1_ENST00000326197.7_Missense_Mutation_p.K179N|SCMH1_ENST00000337495.5_Missense_Mutation_p.K189N|SCMH1_ENST00000397171.2_Missense_Mutation_p.K118N|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000361705.3_Missense_Mutation_p.K132N|SCMH1_ENST00000372596.1_Missense_Mutation_p.K118N|SCMH1_ENST00000397174.2_Missense_Mutation_p.K159N|SCMH1_ENST00000372597.1_Missense_Mutation_p.K132N	p.K179N	NM_001031694.2	NP_001026864.1	WXS	Illumina GAIIx	Phase_I	Q96GD3	SCMH1_HUMAN			8	905	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)	179						Missense_Mutation	SNP	ENST00000326197.7	37	c.537G>T	CCDS30688.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216261	0.79352	.	.	ENSG00000010803	ENST00000361705;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	T;T;T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.58906	0.2155	M	0.79693	2.465	0.80722	D	1	D;D;P	0.89917	0.999;1.0;0.796	D;D;B	0.76575	0.987;0.988;0.351	T	0.55515	-0.8129	10	0.33940	T	0.23	.	18.4399	0.90662	0.0:1.0:0.0:0.0	.	189;132;179	Q96GD3-2;Q96GD3-4;Q96GD3	.;.;SCMH1_HUMAN	N	132;179;159;118;118;132;118;189;118;179	ENSP00000354996:K132N;ENSP00000386079:K179N;ENSP00000380359:K159N;ENSP00000380356:K118N;ENSP00000354656:K118N;ENSP00000361678:K132N;ENSP00000361677:K118N;ENSP00000337352:K189N;ENSP00000361676:K118N;ENSP00000318094:K179N	ENSP00000318094:K179N	K	-	3	2	SCMH1	41351720	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.636000	0.61339	2.704000	0.92352	0.557000	0.71058	AAG		0.512	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1			6	62	1	0	0.0215528	1	0.0225882	6	62				
SHROOM3	57619	broad.mit.edu	37	4	77652058	77652058	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:77652058G>A	ENST00000296043.6	+	4	1510	c.557G>A	c.(556-558)gGc>gAc	p.G186D	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	186					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGTATGATCGGCCCTCCTTGG	0.498																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(556-558)gGc>gAc		shroom family member 3							193.0	176.0	181.0					4																	77652058		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77652058G>A	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.557G>A	4.37:g.77652058G>A	ENSP00000296043:p.Gly186Asp		Somatic				SHROOM3_ENST00000473602.1_3'UTR	p.G186D	NM_020859.3	NP_065910.3	WXS	Illumina GAIIx	Phase_I	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		4	1510	+			186					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.557G>A	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686714	0.88639	.	.	ENSG00000138771	ENST00000296043;ENST00000380735	T	0.43294	0.95	5.73	5.73	0.89815	.	0.167420	0.42682	D	0.000665	T	0.66015	0.2747	M	0.72894	2.215	0.45914	D	0.99875	D;D	0.89917	1.0;0.995	D;P	0.70227	0.968;0.904	T	0.67585	-0.5633	10	0.87932	D	0	-24.2273	19.8928	0.96935	0.0:0.0:1.0:0.0	.	10;186	B4E244;Q8TF72	.;SHRM3_HUMAN	D	186;61	ENSP00000296043:G186D	ENSP00000296043:G186D	G	+	2	0	SHROOM3	77871082	1.000000	0.71417	0.999000	0.59377	0.826000	0.46750	8.241000	0.89816	2.713000	0.92767	0.591000	0.81541	GGC		0.498	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		6	441	0	0	0	1	0	6	441				
AXIN1	8312	broad.mit.edu	37	16	347159	347159	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:347159C>A	ENST00000262320.3	-	7	2223	c.1852G>T	c.(1852-1854)Gag>Tag	p.E618*	AXIN1_ENST00000354866.3_Nonsense_Mutation_p.E618*|AXIN1_ENST00000481769.1_5'Flank	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	618	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CCTGGCACCTCGGTGCTGGCG	0.612																																						ENST00000262320.3																			0				biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221						c.(1852-1854)Gag>Tag		axin 1							219.0	210.0	213.0					16																	347159		2203	4300	6503	SO:0001587	stop_gained	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:347159C>A	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1852G>T	16.37:g.347159C>A	ENSP00000262320:p.Glu618*		Somatic				AXIN1_ENST00000354866.3_Nonsense_Mutation_p.E618*	p.E618*	NM_003502.3	NP_003493.1	WXS	Illumina GAIIx	Phase_I	O15169	AXIN1_HUMAN			7	2223	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	618			Interaction with PPP2CA.|Interaction with RNF111.		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Nonsense_Mutation	SNP	ENST00000262320.3	37	c.1852G>T	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	C	39	7.568380	0.98365	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	.	.	.	4.98	4.02	0.46733	.	0.156231	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-1.1885	13.1589	0.59533	0.0:0.9217:0.0:0.0782	.	.	.	.	X	618	.	ENSP00000262320:E618X	E	-	1	0	AXIN1	287160	0.510000	0.26171	0.287000	0.24848	0.008000	0.06430	1.583000	0.36579	1.088000	0.41272	0.478000	0.44815	GAG		0.612	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			4	112	1	0	1	1	1	4	112				
FAP	2191	broad.mit.edu	37	2	163044875	163044875	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:163044875T>A	ENST00000188790.4	-	20	1827		c.e20-2		FAP_ENST00000443424.1_Splice_Site	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.?(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CCACCATACCTAAAGGAAAAA	0.383																																						ENST00000188790.4																			1	Unknown(1)	p.?(1)	ovary(1)	NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.e20-2		fibroblast activation protein, alpha							58.0	56.0	57.0					2																	163044875		2203	4299	6502	SO:0001630	splice_region_variant	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163044875T>A	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1620-2A>T	2.37:g.163044875T>A			Somatic				FAP_ENST00000443424.1_Splice_Site		NM_004460.2	NP_004451.2	WXS	Illumina GAIIx	Phase_I	Q12884	SEPR_HUMAN			20	1827	-									Splice_Site	SNP	ENST00000188790.4	37		CCDS33311.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.641191	0.67244	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAP	162753121	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	7.325000	0.79124	2.326000	0.78906	0.533000	0.62120	.		0.383	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2		Intron	4	101	0	0	0	1	0	4	101				
WBP11P1	441818	broad.mit.edu	37	18	30092540	30092540	+	RNA	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:30092540G>A	ENST00000567636.1	+	0	915					NR_003558.1				WW domain binding protein 11 pseudogene 1																		GCCCAGCGAGGTCATGATGAT	0.488																																						ENST00000567636.1																			0																																																			441818							g.chr18:30092540G>A	BC059403		18q12.1	2007-05-15				ENSG00000260389			26250	pseudogene	pseudogene							Standard	NR_003558		Approved	HsT3017	uc010dmc.3				18.37:g.30092540G>A			Somatic						NR_003558.1		WXS	Illumina GAIIx	Phase_I					0	915	+									RNA	SNP	ENST00000567636.1	37																																																																																						0.488	WBP11P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435119.1			12	500	0	0	0	1	0	12	500				
OR9G4	283189	broad.mit.edu	37	11	56510859	56510859	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:56510859G>A	ENST00000302957.3	-	1	428	c.429C>T	c.(427-429)aaC>aaT	p.N143N		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AAAGCAATGGGTTACAAATTG	0.498																																						ENST00000302957.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(427-429)aaC>aaT		olfactory receptor, family 9, subfamily G, member 4							116.0	119.0	118.0					11																	56510859		2201	4296	6497	SO:0001819	synonymous_variant	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56510859G>A	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.429C>T	11.37:g.56510859G>A			Somatic					p.N143N	NM_001005284.1	NP_001005284.1	WXS	Illumina GAIIx	Phase_I	Q8NGQ1	OR9G4_HUMAN			1	428	-			143					Q6IF62|Q96RA9	Silent	SNP	ENST00000302957.3	37	c.429C>T	CCDS31537.1																																																																																				0.498	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		40	217	0	0	0	1	0	40	217				
CCDC91	55297	broad.mit.edu	37	12	28458580	28458580	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:28458580A>T	ENST00000545336.1	+	7	528		c.e7-1		CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site|CCDC91_ENST00000381256.1_Splice_Site			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91						protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GTTTTTCTTTAGTATCTGGAG	0.393																																						ENST00000545336.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22						c.e7-1		coiled-coil domain containing 91							191.0	185.0	187.0					12																	28458580		2203	4300	6503	SO:0001630	splice_region_variant	55297				protein transport	Golgi apparatus|membrane		g.chr12:28458580A>T	AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.110-1A>T	12.37:g.28458580A>T			Somatic				CCDC91_ENST00000381256.1_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site|CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q7Z6B0	CCD91_HUMAN			7	528	+	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)							B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Splice_Site	SNP	ENST00000545336.1	37		CCDS8716.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.368066	0.24771	.	.	ENSG00000123106	ENST00000538586;ENST00000539107;ENST00000536442;ENST00000545336;ENST00000543534;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0599	0.47942	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC91	28349847	0.998000	0.40836	0.923000	0.36655	0.233000	0.25261	4.431000	0.59915	2.172000	0.68678	0.477000	0.44152	.		0.393	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318	Intron	6	259	0	0	0	1	0	6	259				
CPXM2	119587	broad.mit.edu	37	10	125514252	125514252	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:125514252C>A	ENST00000241305.3	-	13	2098	c.1944G>T	c.(1942-1944)gtG>gtT	p.V648V	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	648					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GTGAATCTCTCACCAAGCCTT	0.498																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1942-1944)gtG>gtT		carboxypeptidase X (M14 family), member 2							295.0	252.0	267.0					10																	125514252		2203	4300	6503	SO:0001819	synonymous_variant	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125514252C>A	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1944G>T	10.37:g.125514252C>A			Somatic				CPXM2_ENST00000368854.3_5'UTR	p.V648V	NM_198148.2	NP_937791.2	WXS	Illumina GAIIx	Phase_I	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	13	2098	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	648					B4E3Q2	Silent	SNP	ENST00000241305.3	37	c.1944G>T	CCDS7637.1																																																																																				0.498	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		8	223	1	0	0.00621372	1	0.00665432	8	223				
PGLYRP4	57115	broad.mit.edu	37	1	153314103	153314103	+	Splice_Site	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:153314103C>A	ENST00000359650.5	-	6	689	c.625G>T	c.(625-627)Gct>Tct	p.A209S	PGLYRP4_ENST00000368739.3_Splice_Site_p.A205S	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	209					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAGGTCTTACCCTTCTTCAGG	0.542																																						ENST00000368739.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.e6+1		peptidoglycan recognition protein 4							100.0	96.0	98.0					1																	153314103		2203	4300	6503	SO:0001630	splice_region_variant	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153314103C>A	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.625+1G>T	1.37:g.153314103C>A			Somatic				PGLYRP4_ENST00000359650.5_Splice_Site_p.A209_splice	p.A205_splice			WXS	Illumina GAIIx	Phase_I	Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	971	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		209					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Splice_Site	SNP	ENST00000359650.5	37	c.613_splice	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.335061	0.41398	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.12984	2.63;2.63	4.2	4.2	0.49525	N-acetylmuramoyl-L-alanine amidase domain (4);	0.402704	0.20520	N	0.090713	T	0.14614	0.0353	L	0.58669	1.825	0.26219	N	0.979181	P;P	0.46512	0.695;0.879	P;P	0.55345	0.665;0.774	T	0.01853	-1.1260	9	.	.	.	-50.8354	11.8891	0.52618	0.0:1.0:0.0:0.0	.	205;209	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	S	205;209	ENSP00000357728:A205S;ENSP00000352672:A209S	.	A	-	1	0	PGLYRP4	151580727	0.998000	0.40836	0.995000	0.50966	0.328000	0.28507	3.004000	0.49513	2.148000	0.66965	0.591000	0.81541	GCT		0.542	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393	Missense_Mutation	6	287	1	0	3.59834e-05	1	4.06798e-05	6	287				
RBM19	9904	broad.mit.edu	37	12	114385216	114385216	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:114385216C>A	ENST00000545145.2	-	11	1408	c.1330G>T	c.(1330-1332)Ggt>Tgt	p.G444C	RBM19_ENST00000261741.5_Missense_Mutation_p.G444C|RBM19_ENST00000392561.3_Missense_Mutation_p.G444C	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	444	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					AATGCAAAACCCTTGGGTTTC	0.602																																						ENST00000545145.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.(1330-1332)Ggt>Tgt		RNA binding motif protein 19							137.0	117.0	124.0					12																	114385216		2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114385216C>A	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1330G>T	12.37:g.114385216C>A	ENSP00000442053:p.Gly444Cys		Somatic				RBM19_ENST00000392561.3_Missense_Mutation_p.G444C|RBM19_ENST00000261741.5_Missense_Mutation_p.G444C	p.G444C	NM_001146699.1	NP_001140171.1	WXS	Illumina GAIIx	Phase_I	Q9Y4C8	RBM19_HUMAN			11	1408	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		444			RRM 3.		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.1330G>T	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222027	0.79464	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.15372	2.43;2.43;2.43	5.15	4.26	0.50523	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.48589	0.1508	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59542	-0.7435	10	0.87932	D	0	-27.6028	13.464	0.61243	0.0:0.924:0.0:0.076	.	444	Q9Y4C8	RBM19_HUMAN	C	444	ENSP00000442053:G444C;ENSP00000376344:G444C;ENSP00000261741:G444C	ENSP00000261741:G444C	G	-	1	0	RBM19	112869599	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.375000	0.79646	1.177000	0.42855	0.655000	0.94253	GGT		0.602	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		19	99	1	0	4.35082e-09	1	5.31666e-09	19	99				
FLT3	2322	broad.mit.edu	37	13	28592645	28592645	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr13:28592645G>A	ENST00000241453.7	-	20	2581	c.2500C>T	c.(2500-2502)Cga>Tga	p.R834*	FLT3_ENST00000380982.4_Nonsense_Mutation_p.R834*|FLT3_ENST00000537084.1_Intron	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	834	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R834_D835del(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGATATCTCGAGCCAATCCA	0.453			"""Mis, O"""		"""AML, ALL"""																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"""Mis, O"""	fms-related tyrosine kinase 3			L			"""AML, ALL"""		1	Deletion - In frame(1)	p.R834_D835del(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(2500-2502)Cga>Tga		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						189.0	142.0	158.0					13																	28592645		2203	4300	6503	SO:0001587	stop_gained	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28592645G>A	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2500C>T	13.37:g.28592645G>A	ENSP00000241453:p.Arg834*		Somatic				FLT3_ENST00000241453.7_Nonsense_Mutation_p.R834*|FLT3_ENST00000537084.1_Intron	p.R834*			WXS	Illumina GAIIx	Phase_I	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	20	2581	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	834			Protein kinase.		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Nonsense_Mutation	SNP	ENST00000241453.7	37	c.2500C>T	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	G	40	8.517642	0.98845	.	.	ENSG00000122025	ENST00000241453;ENST00000380982	.	.	.	5.84	4.92	0.64577	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5869	0.50923	0.0:0.0:0.6168:0.3832	.	.	.	.	X	834	.	ENSP00000241453:R834X	R	-	1	2	FLT3	27490645	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.082000	0.41605	2.792000	0.96026	0.556000	0.70494	CGA		0.453	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			4	72	0	0	0	1	0	4	72				
C2orf42	54980	broad.mit.edu	37	2	70396783	70396783	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:70396783C>A	ENST00000264434.2	-	6	1429	c.1050G>T	c.(1048-1050)caG>caT	p.Q350H	C2orf42_ENST00000420306.1_Missense_Mutation_p.Q350H	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	350										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CATCTAACAGCTGACCACAGG	0.388																																						ENST00000264434.2																			0				endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(1048-1050)caG>caT		chromosome 2 open reading frame 42							102.0	88.0	93.0					2																	70396783		2203	4300	6503	SO:0001583	missense	54980							g.chr2:70396783C>A	AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.1050G>T	2.37:g.70396783C>A	ENSP00000264434:p.Gln350His		Somatic				C2orf42_ENST00000420306.1_Missense_Mutation_p.Q350H	p.Q350H	NM_017880.1	NP_060350.1	WXS	Illumina GAIIx	Phase_I	Q9NWW7	CB042_HUMAN			6	1429	-			350					D6W5G3|Q9H629	Missense_Mutation	SNP	ENST00000264434.2	37	c.1050G>T	CCDS1899.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.391122	0.42410	.	.	ENSG00000115998	ENST00000264434;ENST00000420306	D;D	0.94000	-3.33;-3.33	5.09	2.3	0.28687	.	0.317958	0.30890	N	0.008668	D	0.90535	0.7034	L	0.46157	1.445	0.28537	N	0.912271	D	0.54207	0.965	P	0.47981	0.563	D	0.85442	0.1155	10	0.72032	D	0.01	-21.4169	7.2	0.25874	0.0:0.5929:0.0:0.4071	.	350	Q9NWW7	CB042_HUMAN	H	350	ENSP00000264434:Q350H;ENSP00000404515:Q350H	ENSP00000264434:Q350H	Q	-	3	2	C2orf42	70250287	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	0.814000	0.27239	0.746000	0.32786	-0.142000	0.14014	CAG		0.388	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251840.1	NM_017880		3	39	1	0	0.115264	1	0.118483	3	39				
C6	729	broad.mit.edu	37	5	41149560	41149560	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:41149560C>T	ENST00000263413.3	-	17	2670	c.2406G>A	c.(2404-2406)gtG>gtA	p.V802V	C6_ENST00000337836.5_Silent_p.V802V	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	802	C5b-binding domain.|Factor I module (FIM) 1.|Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGTGTCAAACACACAGAGAT	0.398																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(2404-2406)gtG>gtA		complement component 6							121.0	129.0	127.0					5																	41149560		2203	4300	6503	SO:0001819	synonymous_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41149560C>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2406G>A	5.37:g.41149560C>T			Somatic				C6_ENST00000337836.5_Silent_p.V802V	p.V802V	NM_001115131.1	NP_001108603.2	WXS	Illumina GAIIx	Phase_I	P13671	CO6_HUMAN			17	2670	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	802			C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.			Silent	SNP	ENST00000263413.3	37	c.2406G>A	CCDS3936.1																																																																																				0.398	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			6	317	0	0	0	1	0	6	317				
LPHN2	23266	broad.mit.edu	37	1	82416143	82416143	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:82416143G>T	ENST00000370728.1	+	9	2114	c.1469G>T	c.(1468-1470)cGa>cTa	p.R490L	LPHN2_ENST00000370727.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370717.2_Missense_Mutation_p.R490L|LPHN2_ENST00000370725.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370730.1_Missense_Mutation_p.R490L|LPHN2_ENST00000394879.1_Missense_Mutation_p.R490L|LPHN2_ENST00000271029.4_Missense_Mutation_p.R490L|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000359929.3_Missense_Mutation_p.R490L|LPHN2_ENST00000319517.6_Missense_Mutation_p.R490L|LPHN2_ENST00000370723.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370715.1_Missense_Mutation_p.R490L|LPHN2_ENST00000335786.5_Missense_Mutation_p.R490L|LPHN2_ENST00000370721.1_Missense_Mutation_p.R428L|LPHN2_ENST00000370713.1_Missense_Mutation_p.R490L			O95490	LPHN2_HUMAN	latrophilin 2	490					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATGGTTGAACGACCATGCCCT	0.383																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(1468-1470)cGa>cTa		latrophilin 2							85.0	86.0	85.0					1																	82416143		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82416143G>T	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1469G>T	1.37:g.82416143G>T	ENSP00000359763:p.Arg490Leu		Somatic				LPHN2_ENST00000359929.3_Missense_Mutation_p.R490L|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.R490L|LPHN2_ENST00000394879.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370730.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370713.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370721.1_Missense_Mutation_p.R428L|LPHN2_ENST00000370723.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370725.1_Missense_Mutation_p.R490L|LPHN2_ENST00000271029.4_Missense_Mutation_p.R490L|LPHN2_ENST00000319517.6_Missense_Mutation_p.R490L|LPHN2_ENST00000370727.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370717.2_Missense_Mutation_p.R490L|LPHN2_ENST00000335786.5_Missense_Mutation_p.R490L	p.R490L			WXS	Illumina GAIIx	Phase_I	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	9	2114	+			490					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.1469G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.67|16.67	3.188503|3.188503	0.57909|0.57909	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.62639	.|0.01;0.01;0.01;0.01;0.01;0.01;0.01;0.01;0.01;0.01;0.01;0.01;0.01;0.01	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.77935|0.77935	0.4205|0.4205	M|M	0.83483|0.83483	2.645|2.645	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.998;1.0	.|D;D;D	.|0.77557	.|0.99;0.951;0.99	T|T	0.73827|0.73827	-0.3860|-0.3860	5|10	.|0.31617	.|T	.|0.26	.|.	20.2422|20.2422	0.98381|0.98381	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|490;490;490	.|O95490-3;O95490-4;O95490-2	.|.;.;.	Y|L	358|428;490;490;490;490;490;490;490;490;490;490;490;490;490	.|ENSP00000359756:R428L;ENSP00000359763:R490L;ENSP00000359765:R490L;ENSP00000359762:R490L;ENSP00000359760:R490L;ENSP00000359758:R490L;ENSP00000353006:R490L;ENSP00000359750:R490L;ENSP00000359748:R490L;ENSP00000322270:R490L;ENSP00000359752:R490L;ENSP00000378344:R490L;ENSP00000271029:R490L;ENSP00000337306:R490L	.|ENSP00000271029:R490L	D|R	+|+	1|2	0|0	LPHN2|LPHN2	82188731|82188731	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.981000|0.981000	0.71138|0.71138	7.733000|7.733000	0.84916|0.84916	2.782000|2.782000	0.95742|0.95742	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.383	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		21	136	1	0	6.12954e-19	1	8.00509e-19	21	136				
MYZAP	100820829	broad.mit.edu	37	15	57921931	57921931	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:57921931G>A	ENST00000267853.5	+	6	651	c.557G>A	c.(556-558)aGc>aAc	p.S186N	GCOM1_ENST00000380560.2_Missense_Mutation_p.S117N|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380568.3_Missense_Mutation_p.S186N|MYZAP_ENST00000380565.4_Missense_Mutation_p.S186N|GCOM1_ENST00000587652.1_Missense_Mutation_p.S186N|GCOM1_ENST00000380569.2_Missense_Mutation_p.S186N|GCOM1_ENST00000396180.1_Missense_Mutation_p.S155N|GCOM1_ENST00000572390.1_Missense_Mutation_p.S186N|GCOM1_ENST00000574161.1_Missense_Mutation_p.S186N|GCOM1_ENST00000380561.2_Missense_Mutation_p.S155N			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	186					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											TTGGAAAACAGCAACATTAAG	0.458																																						ENST00000574161.1																			0				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						c.(556-558)aGc>aAc									97.0	90.0	92.0					15																	57921931		2192	4292	6484	SO:0001583	missense	145781				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band		g.chr15:57921931G>A	FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"""myocardium-enriched zonula adherens protein"""	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.557G>A	15.37:g.57921931G>A	ENSP00000267853:p.Ser186Asn		Somatic				GCOM1_ENST00000587652.1_Missense_Mutation_p.S186N|GCOM1_ENST00000572390.1_Missense_Mutation_p.S186N|GCOM1_ENST00000380561.2_Missense_Mutation_p.S155N|GCOM1_ENST00000380568.3_Missense_Mutation_p.S186N|MYZAP_ENST00000267853.5_Missense_Mutation_p.S186N|GCOM1_ENST00000396180.1_Missense_Mutation_p.S155N|MYZAP_ENST00000380565.4_Missense_Mutation_p.S186N|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380569.2_Missense_Mutation_p.S186N|GCOM1_ENST00000380560.2_Missense_Mutation_p.S117N	p.S186N	NM_001018100.3	NP_001018110.1	WXS	Illumina GAIIx	Phase_I	P0CAP1	GCOM1_HUMAN			6	676	+			186					D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Missense_Mutation	SNP	ENST00000267853.5	37	c.557G>A	CCDS10162.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152670	0.57259	.	.	ENSG00000137878	ENST00000380569;ENST00000380561;ENST00000396180;ENST00000380560;ENST00000267853;ENST00000380565;ENST00000380568	T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.43	5.43	0.79202	.	0.256935	0.45606	D	0.000351	T	0.42154	0.1190	L	0.54323	1.7	0.80722	D	1	P;P;D;P	0.58268	0.95;0.95;0.982;0.865	P;P;P;P	0.54889	0.648;0.648;0.763;0.604	T	0.13953	-1.0490	10	0.41790	T	0.15	-15.6238	12.9634	0.58472	0.0:0.2753:0.7247:0.0	.	186;186;186;186	P0CAP1-2;P0CAP1-11;P0CAP1-4;P0CAP1	.;.;.;GCOM1_HUMAN	N	186;155;155;117;186;186;186	ENSP00000369943:S186N;ENSP00000369935:S155N;ENSP00000379483:S155N;ENSP00000369933:S117N;ENSP00000267853:S186N;ENSP00000369939:S186N;ENSP00000369942:S186N	ENSP00000267853:S186N	S	+	2	0	GCOM1	55709223	0.969000	0.33509	0.997000	0.53966	0.429000	0.31625	1.997000	0.40786	2.540000	0.85666	0.650000	0.86243	AGC		0.458	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2	NM_001018100		7	697	0	0	0	1	0	7	697				
ZBTB22	9278	broad.mit.edu	37	6	33283506	33283506	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:33283506A>G	ENST00000431845.2	-	2	1339	c.1188T>C	c.(1186-1188)ctT>ctC	p.L396L	TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000426633.2_5'Flank|ZBTB22_ENST00000418724.1_Silent_p.L396L|TAPBP_ENST00000456592.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	396					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CTGAGTCATCAAGACCTGCCA	0.612																																						ENST00000431845.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(1186-1188)ctT>ctC		zinc finger and BTB domain containing 22							125.0	138.0	133.0					6																	33283506		2203	4300	6503	SO:0001819	synonymous_variant	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33283506A>G	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1188T>C	6.37:g.33283506A>G			Somatic				ZBTB22_ENST00000418724.1_Silent_p.L396L	p.L396L	NM_005453.4	NP_005444.4	WXS	Illumina GAIIx	Phase_I	O15209	ZBT22_HUMAN			2	1339	-			396					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Silent	SNP	ENST00000431845.2	37	c.1188T>C	CCDS4775.1																																																																																				0.612	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			8	424	0	0	0	1	0	8	424				
REV3L	5980	broad.mit.edu	37	6	111697676	111697676	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:111697676G>T	ENST00000358835.3	-	14	2336	c.1882C>A	c.(1882-1884)Cct>Act	p.P628T	REV3L_ENST00000368805.1_Missense_Mutation_p.P628T|REV3L_ENST00000435970.1_Missense_Mutation_p.P550T|REV3L_ENST00000368802.3_Missense_Mutation_p.P628T			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	628					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAAGATCCAGGGTATTTCATA	0.323								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(1648-1650)Cct>Act	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							56.0	61.0	59.0					6																	111697676		2197	4295	6492	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111697676G>T	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.1882C>A	6.37:g.111697676G>T	ENSP00000351697:p.Pro628Thr		Somatic				REV3L_ENST00000368802.3_Missense_Mutation_p.P628T|REV3L_ENST00000358835.3_Missense_Mutation_p.P628T|REV3L_ENST00000368805.1_Missense_Mutation_p.P628T	p.P550T			WXS	Illumina GAIIx	Phase_I	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	2464	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	628					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.1648C>A	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	10.49	1.363862	0.24684	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01647	4.81;4.81;4.81;4.71	5.31	2.55	0.30701	Ribonuclease H-like (1);	7739.210000	0.00166	N	0.000001	T	0.00998	0.0033	L	0.29908	0.895	0.31297	N	0.688707	P	0.48589	0.912	B	0.43754	0.43	T	0.49214	-0.8963	10	0.72032	D	0.01	-20.6465	9.8151	0.40846	0.225:0.0:0.775:0.0	.	628	O60673	DPOLZ_HUMAN	T	628;628;628;550	ENSP00000357792:P628T;ENSP00000357795:P628T;ENSP00000351697:P628T;ENSP00000402003:P550T	ENSP00000351697:P628T	P	-	1	0	REV3L	111804369	1.000000	0.71417	0.996000	0.52242	0.844000	0.47949	4.506000	0.60428	0.240000	0.21263	0.563000	0.77884	CCT		0.323	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		4	50	1	0	0.217242	1	0.220613	4	50				
TSC2	7249	broad.mit.edu	37	16	2108854	2108854	+	Missense_Mutation	SNP	G	G	T	rs397514981|rs137854347|rs137854263		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:2108854G>T	ENST00000219476.3	+	10	1585	c.955G>T	c.(955-957)Gtg>Ttg	p.V319L	TSC2_ENST00000350773.4_Missense_Mutation_p.V319L|TSC2_ENST00000439673.2_Missense_Mutation_p.V282L|TSC2_ENST00000568454.1_Missense_Mutation_p.V330L|TSC2_ENST00000382538.6_Missense_Mutation_p.V270L|TSC2_ENST00000401874.2_Missense_Mutation_p.V319L|TSC2_ENST00000353929.4_Missense_Mutation_p.V319L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	319	Required for interaction with TSC1.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GCCGACATCTGTGTTGCCATC	0.607			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(955-957)Gtg>Ttg		tuberous sclerosis 2							65.0	54.0	57.0					16																	2108854		2196	4296	6492	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2108854G>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.955G>T	16.37:g.2108854G>T	ENSP00000219476:p.Val319Leu		Somatic				TSC2_ENST00000382538.6_Missense_Mutation_p.V270L|TSC2_ENST00000568454.1_Missense_Mutation_p.V330L|TSC2_ENST00000353929.4_Missense_Mutation_p.V319L|TSC2_ENST00000350773.4_Missense_Mutation_p.V319L|TSC2_ENST00000401874.2_Missense_Mutation_p.V319L|TSC2_ENST00000439673.2_Missense_Mutation_p.V282L	p.V319L	NM_000548.3	NP_000539.2	WXS	Illumina GAIIx	Phase_I	P49815	TSC2_HUMAN			10	1585	+		Hepatocellular(780;0.0202)	319			Required for interaction with TSC1.		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.955G>T	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	.	19.51	3.841076	0.71488	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.12	5.12	0.69794	Armadillo-like helical (1);Armadillo-type fold (1);Tuberin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91133	0.7208	M	0.83774	2.66	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.961;0.999;0.996;0.996;0.974	D;D;D;D;D;D	0.87578	0.998;0.914;0.983;0.995;0.995;0.978	D	0.88479	0.3067	10	0.17369	T	0.5	-25.1192	18.9169	0.92508	0.0:0.0:1.0:0.0	.	270;282;319;319;319;319	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	L	319;319;319;282;270;319	ENSP00000219476:V319L;ENSP00000384468:V319L;ENSP00000248099:V319L;ENSP00000399232:V282L;ENSP00000371978:V270L;ENSP00000344383:V319L	ENSP00000219476:V319L	V	+	1	0	TSC2	2048855	1.000000	0.71417	0.868000	0.34077	0.007000	0.05969	9.346000	0.97056	2.541000	0.85698	0.655000	0.94253	GTG		0.607	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		11	31	1	0	0.00136819	1	0.00149511	11	31				
APOL6	80830	broad.mit.edu	37	22	36054744	36054744	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:36054744G>T	ENST00000409652.4	+	3	409	c.133G>T	c.(133-135)Gaa>Taa	p.E45*		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	45					lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						ATTTTTGAGAGAATTTCCCAG	0.443																																						ENST00000409652.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						c.(133-135)Gaa>Taa		apolipoprotein L, 6							62.0	67.0	65.0					22																	36054744		2203	4300	6503	SO:0001587	stop_gained	80830				lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity	g.chr22:36054744G>T	AY014879	CCDS13919.1	22q12.3	2013-01-24			ENSG00000221963	ENSG00000221963		"""Apolipoproteins"""	14870	protein-coding gene	gene with protein product		607256				11374903, 15671246	Standard	NM_030641		Approved	APOL-VI, APOLVI	uc003aoe.3	Q9BWW8	OTTHUMG00000150615	ENST00000409652.4:c.133G>T	22.37:g.36054744G>T	ENSP00000386280:p.Glu45*		Somatic					p.E45*	NM_030641.3	NP_085144.1	WXS	Illumina GAIIx	Phase_I	Q9BWW8	APOL6_HUMAN			3	409	+			45					Q5R3S1|Q658J1|Q8IXX6|Q9UGG1	Nonsense_Mutation	SNP	ENST00000409652.4	37	c.133G>T	CCDS13919.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846690	0.91277	.	.	ENSG00000221963	ENST00000409652	.	.	.	4.16	-0.742	0.11108	.	0.138374	0.46145	D	0.000305	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-0.5527	5.4059	0.16320	0.1859:0.3129:0.5012:0.0	.	.	.	.	X	45	.	ENSP00000386280:E45X	E	+	1	0	APOL6	34384690	0.527000	0.26306	0.003000	0.11579	0.159000	0.22180	0.809000	0.27168	-0.110000	0.12022	-0.150000	0.13652	GAA		0.443	APOL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319081.2	NM_030641		9	49	1	0	1.12685e-05	1	1.30653e-05	9	49				
OR7G3	390883	broad.mit.edu	37	19	9237454	9237454	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:9237454G>A	ENST00000305444.2	-	1	172	c.173C>T	c.(172-174)cCc>cTc	p.P58L		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GAAGTACATGGGGGTGTGGAG	0.557																																						ENST00000305444.2																			0				NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(172-174)cCc>cTc		olfactory receptor, family 7, subfamily G, member 3							117.0	95.0	102.0					19																	9237454		2203	4300	6503	SO:0001583	missense	390883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9237454G>A		CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"""GPCR / Class A : Olfactory receptors"""	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.173C>T	19.37:g.9237454G>A	ENSP00000302867:p.Pro58Leu		Somatic					p.P58L	NM_001001958.1	NP_001001958.1	WXS	Illumina GAIIx	Phase_I	Q8NG95	OR7G3_HUMAN			1	172	-			58					Q6IFJ6|Q96R99	Missense_Mutation	SNP	ENST00000305444.2	37	c.173C>T	CCDS32899.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414622	0.83449	.	.	ENSG00000170920	ENST00000305444	T	0.02032	4.49	4.02	4.02	0.46733	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41605	U	0.000847	T	0.22781	0.0550	H	0.98111	4.15	0.58432	D	0.999998	D	0.89917	1.0	D	0.78314	0.991	T	0.46762	-0.9168	10	0.87932	D	0	.	15.3092	0.74016	0.0:0.0:1.0:0.0	.	58	Q8NG95	OR7G3_HUMAN	L	58	ENSP00000302867:P58L	ENSP00000302867:P58L	P	-	2	0	OR7G3	9098454	1.000000	0.71417	0.993000	0.49108	0.835000	0.47333	8.104000	0.89551	2.255000	0.74692	0.558000	0.71614	CCC		0.557	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			4	356	0	0	0	1	0	4	356				
MMP2	4313	broad.mit.edu	37	16	55527162	55527162	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:55527162G>A	ENST00000219070.4	+	9	1938	c.1429G>A	c.(1429-1431)Ggc>Agc	p.G477S	MMP2_ENST00000570308.1_Missense_Mutation_p.G401S|MMP2_ENST00000437642.2_Missense_Mutation_p.G427S|MMP2_ENST00000543485.1_Missense_Mutation_p.G401S	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	477	Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	TGTATTTGATGGCATCGCTCA	0.567																																						ENST00000219070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1429-1431)Ggc>Agc		matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	Marimastat(DB00786)|Sulindac(DB00605)						209.0	187.0	195.0					16																	55527162		2198	4300	6498	SO:0001583	missense	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55527162G>A		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1429G>A	16.37:g.55527162G>A	ENSP00000219070:p.Gly477Ser		Somatic				MMP2_ENST00000543485.1_Missense_Mutation_p.G401S|MMP2_ENST00000570308.1_Missense_Mutation_p.G401S|MMP2_ENST00000437642.2_Missense_Mutation_p.G427S	p.G477S	NM_004530.4	NP_004521.1	WXS	Illumina GAIIx	Phase_I	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	9	1938	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	477			Hemopexin-like 1.|Required for inhibitor TIMP2 binding.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	c.1429G>A	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	G	34	5.400160	0.96030	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.02446	4.29;4.29;4.29	5.18	5.18	0.71444	Hemopexin/matrixin (2);	0.049735	0.85682	D	0.000000	T	0.07593	0.0191	L	0.43923	1.385	0.58432	D	0.999994	B;P	0.45348	0.108;0.856	B;P	0.50791	0.077;0.65	T	0.22556	-1.0213	10	0.48119	T	0.1	.	18.6835	0.91556	0.0:0.0:1.0:0.0	.	427;477	E9PE45;P08253	.;MMP2_HUMAN	S	477;401;427	ENSP00000219070:G477S;ENSP00000444143:G401S;ENSP00000394237:G427S	ENSP00000219070:G477S	G	+	1	0	MMP2	54084663	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.994000	0.88315	2.425000	0.82216	0.563000	0.77884	GGC		0.567	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			7	490	0	0	0	1	0	7	490				
SMARCA2	6595	broad.mit.edu	37	9	2039464	2039464	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:2039464A>T	ENST00000382203.1	+	4	564		c.e4-1		SMARCA2_ENST00000382194.1_Splice_Site|SMARCA2_ENST00000491574.1_Splice_Site|SMARCA2_ENST00000357248.2_Splice_Site|RP11-264I13.2_ENST00000426860.1_RNA|SMARCA2_ENST00000349721.2_Splice_Site			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2						aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GTTTTATTTTAGGTTATATGT	0.493																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.e4-1		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							76.0	82.0	80.0					9																	2039464		2203	4300	6503	SO:0001630	splice_region_variant	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2039464A>T	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.356-1A>T	9.37:g.2039464A>T			Somatic				SMARCA2_ENST00000382194.1_Splice_Site|SMARCA2_ENST00000349721.2_Splice_Site|SMARCA2_ENST00000357248.2_Splice_Site|SMARCA2_ENST00000491574.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	4	564	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)						B1ALG3|B1ALG4|D3DRH4|D3DRH5	Splice_Site	SNP	ENST00000382203.1	37		CCDS34977.1	.	.	.	.	.	.	.	.	.	.	A	19.97	3.925383	0.73213	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000439732;ENST00000382203;ENST00000382194	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5261	0.75910	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMARCA2	2029464	1.000000	0.71417	0.993000	0.49108	0.875000	0.50365	9.044000	0.93805	2.072000	0.62099	0.533000	0.62120	.		0.493	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070	Intron	6	94	0	0	0	1	0	6	94				
DALRD3	55152	broad.mit.edu	37	3	49054074	49054074	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:49054074G>A	ENST00000341949.4	-	7	1040	c.1034C>T	c.(1033-1035)gCa>gTa	p.A345V	DALRD3_ENST00000395462.4_Missense_Mutation_p.A178V|DALRD3_ENST00000496568.1_5'Flank|DALRD3_ENST00000440857.1_Missense_Mutation_p.A178V|DALRD3_ENST00000313778.5_Missense_Mutation_p.A178V|DALRD3_ENST00000441576.2_Missense_Mutation_p.A345V	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	345					arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATGCTTCAGTGCTGAGGCCTT	0.587																																						ENST00000440857.1																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12						c.(532-534)gCa>gTa		DALR anticodon binding domain containing 3							94.0	86.0	89.0					3																	49054074		2203	4300	6503	SO:0001583	missense	55152				arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding	g.chr3:49054074G>A	BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.1034C>T	3.37:g.49054074G>A	ENSP00000344989:p.Ala345Val		Somatic				DALRD3_ENST00000341949.4_Missense_Mutation_p.A345V|DALRD3_ENST00000441576.2_Missense_Mutation_p.A345V|DALRD3_ENST00000395462.4_Missense_Mutation_p.A178V|DALRD3_ENST00000313778.5_Missense_Mutation_p.A178V	p.A178V			WXS	Illumina GAIIx	Phase_I	Q5D0E6	DALD3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	8	1235	-			345					Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Missense_Mutation	SNP	ENST00000341949.4	37	c.533C>T	CCDS33754.1	.	.	.	.	.	.	.	.	.	.	G	7.891	0.732338	0.15507	.	.	ENSG00000178149	ENST00000441576;ENST00000341949;ENST00000395462;ENST00000440857;ENST00000313778	T;T;T;T;T	0.43688	1.01;1.0;0.99;0.94;0.99	4.81	3.85	0.44370	.	0.341776	0.30020	N	0.010605	T	0.27629	0.0679	L	0.27053	0.805	0.23542	N	0.997455	B;B;B;B	0.26845	0.129;0.161;0.129;0.002	B;B;B;B	0.27715	0.082;0.021;0.082;0.002	T	0.09930	-1.0652	10	0.25106	T	0.35	-4.8146	9.7989	0.40753	0.1098:0.0:0.8902:0.0	.	345;178;345;345	B7Z727;C9JJG6;Q5D0E6-2;Q5D0E6	.;.;.;DALD3_HUMAN	V	345;345;178;178;178	ENSP00000410623:A345V;ENSP00000344989:A345V;ENSP00000378846:A178V;ENSP00000403770:A178V;ENSP00000323265:A178V	ENSP00000323265:A178V	A	-	2	0	DALRD3	49029078	0.035000	0.19736	0.514000	0.27761	0.814000	0.46013	2.302000	0.43637	2.495000	0.84180	0.561000	0.74099	GCA		0.587	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345581.1	NM_018114		7	100	0	0	0	1	0	7	100				
FLG2	388698	broad.mit.edu	37	1	152324819	152324819	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:152324819A>C	ENST00000388718.5	-	3	5515	c.5443T>G	c.(5443-5445)Ttc>Gtc	p.F1815V	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1815					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTTGTGAGAACCCTGAGTGC	0.532																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5443-5445)Ttc>Gtc		filaggrin family member 2							314.0	275.0	288.0					1																	152324819		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152324819A>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5443T>G	1.37:g.152324819A>C	ENSP00000373370:p.Phe1815Val		Somatic				FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.F1815V	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5515	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1815					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.5443T>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	A	6.433	0.448033	0.12223	.	.	ENSG00000143520	ENST00000388718	T	0.24350	1.86	3.77	-5.34	0.02705	.	.	.	.	.	T	0.01287	0.0042	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43540	-0.9385	9	0.16420	T	0.52	1.6884	2.0067	0.03478	0.5256:0.1737:0.1639:0.1368	.	1815	Q5D862	FILA2_HUMAN	V	1815	ENSP00000373370:F1815V	ENSP00000373370:F1815V	F	-	1	0	FLG2	150591443	0.000000	0.05858	0.000000	0.03702	0.232000	0.25224	-2.410000	0.01040	-0.898000	0.03906	0.246000	0.17985	TTC		0.532	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		7	250	0	0	0	1	0	7	250				
ITCH	83737	broad.mit.edu	37	20	33000357	33000357	+	Silent	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:33000357G>T	ENST00000262650.6	+	5	385	c.249G>T	c.(247-249)gtG>gtT	p.V83V	ITCH_ENST00000374864.4_Silent_p.V83V|ITCH_ENST00000535650.1_5'UTR			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	83	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						ATTTTCGTGTGTGGAGTCACC	0.303																																						ENST00000374864.4																			0				NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						c.(247-249)gtG>gtT		itchy E3 ubiquitin protein ligase							84.0	78.0	80.0					20																	33000357		2202	4299	6501	SO:0001819	synonymous_variant	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33000357G>T	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.249G>T	20.37:g.33000357G>T			Somatic				ITCH_ENST00000535650.1_5'UTR|ITCH_ENST00000262650.6_Silent_p.V83V	p.V83V	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	WXS	Illumina GAIIx	Phase_I	Q96J02	ITCH_HUMAN			5	462	+			83			C2.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Silent	SNP	ENST00000262650.6	37	c.249G>T	CCDS58768.1																																																																																				0.303	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			8	59	1	0	9.05144e-12	1	1.14161e-11	8	59				
L1TD1	54596	broad.mit.edu	37	1	62675572	62675572	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:62675572A>T	ENST00000498273.1	+	4	1421	c.1126A>T	c.(1126-1128)Act>Tct	p.T376S	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	376	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						AAACTTAGAGACTCAAGAGGA	0.463																																						ENST00000498273.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(1126-1128)Act>Tct		LINE-1 type transposase domain containing 1							81.0	92.0	88.0					1																	62675572		2203	4300	6503	SO:0001583	missense	54596							g.chr1:62675572A>T	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.1126A>T	1.37:g.62675572A>T	ENSP00000419901:p.Thr376Ser		Somatic					p.T376S	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	WXS	Illumina GAIIx	Phase_I	Q5T7N2	LITD1_HUMAN			4	1421	+			376			Glu-rich.		Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	c.1126A>T	CCDS619.1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.866503	0.32977	.	.	ENSG00000240563	ENST00000498273	T	0.11277	2.79	3.42	-2.07	0.07276	.	.	.	.	.	T	0.05960	0.0155	N	0.24115	0.695	0.09310	N	1	B	0.19073	0.033	B	0.12156	0.007	T	0.38286	-0.9668	9	0.62326	D	0.03	.	2.3467	0.04273	0.3972:0.0:0.2304:0.3724	.	376	Q5T7N2	LITD1_HUMAN	S	376	ENSP00000419901:T376S	ENSP00000419901:T376S	T	+	1	0	L1TD1	62448160	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-0.644000	0.05415	-0.393000	0.07739	0.379000	0.24179	ACT		0.463	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		3	63	0	0	0	1	0	3	63				
ST3GAL2	6483	broad.mit.edu	37	16	70422317	70422317	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:70422317C>T	ENST00000393640.4	-	3	2773	c.666G>A	c.(664-666)ctG>ctA	p.L222L	ST3GAL2_ENST00000342907.2_Silent_p.L222L|RP11-529K1.4_ENST00000566960.1_RNA			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	222					amino sugar metabolic process (GO:0006040)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				ACAGAAGGTCCAGGACCTTGA	0.582																																						ENST00000393640.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11						c.(664-666)ctG>ctA		ST3 beta-galactoside alpha-2,3-sialyltransferase 2							151.0	136.0	141.0					16																	70422317		2198	4300	6498	SO:0001819	synonymous_variant	6483				amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr16:70422317C>T	U63090	CCDS10890.1	16q22.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000157350	ENSG00000157350	2.4.99.4	"""Sialyltransferases"""	10863	protein-coding gene	gene with protein product		607188	"""sialyltransferase 4B (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4B		9266697, 8920913	Standard	NM_006927		Approved	ST3GALII, ST3GalA.2	uc002eyx.2	Q16842	OTTHUMG00000137580	ENST00000393640.4:c.666G>A	16.37:g.70422317C>T			Somatic				RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Silent_p.L222L	p.L222L			WXS	Illumina GAIIx	Phase_I	Q16842	SIA4B_HUMAN			3	2773	-		Ovarian(137;0.0694)	222					O00654	Silent	SNP	ENST00000393640.4	37	c.666G>A	CCDS10890.1																																																																																				0.582	ST3GAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268968.1	NM_006927		4	300	0	0	0	1	0	4	300				
ACKR4	51554	broad.mit.edu	37	3	132319446	132319446	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:132319446T>A	ENST00000249887.2	+	2	301	c.205T>A	c.(205-207)Tac>Aac	p.Y69N	ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	Q9NPB9	ACKR4_HUMAN	atypical chemokine receptor 4	69					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										TTATGCCTATTACAAGAAACA	0.398																																						ENST00000249887.2																			0											c.(205-207)Tac>Aac		atypical chemokine receptor 4							37.0	37.0	37.0					3																	132319446		2203	4295	6498	SO:0001583	missense	51554							g.chr3:132319446T>A	AF110640	CCDS3075.1	3q22	2013-07-17	2013-07-16	2013-07-16	ENSG00000129048	ENSG00000129048		"""GPCR / Class A : Chemokine receptors : Atypical"""	1611	protein-coding gene	gene with protein product		606065	"""chemokine (C-C motif) receptor-like 1"""	CCRL1		10767544, 16148	Standard	NM_016557		Approved	CCR11, CCBP2, VSHK1, CCX-CKR, PPR1	uc003eow.3	Q9NPB9	OTTHUMG00000159768	ENST00000249887.2:c.205T>A	3.37:g.132319446T>A	ENSP00000249887:p.Tyr69Asn		Somatic				ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Intron	p.Y69N	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1	WXS	Illumina GAIIx	Phase_I					2	301	+								B2R9U7	Missense_Mutation	SNP	ENST00000249887.2	37	c.205T>A	CCDS3075.1	.	.	.	.	.	.	.	.	.	.	T	11.38	1.620707	0.28889	.	.	ENSG00000129048	ENST00000249887;ENST00000424114	T	0.70399	-0.48	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.280995	0.37053	N	0.002270	T	0.62405	0.2425	L	0.42744	1.35	0.38508	D	0.948391	P	0.48589	0.912	B	0.40602	0.334	T	0.70680	-0.4805	10	0.87932	D	0	.	11.2271	0.48890	0.1371:0.0:0.0:0.8629	.	69	Q9NPB9	CCRL1_HUMAN	N	69	ENSP00000249887:Y69N	ENSP00000249887:Y69N	Y	+	1	0	CCRL1	133802136	0.970000	0.33590	1.000000	0.80357	0.997000	0.91878	1.445000	0.35079	2.051000	0.60960	0.482000	0.46254	TAC		0.398	ACKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357238.2	NM_016557		5	334	0	0	0	1	0	5	334				
FAM169A	26049	broad.mit.edu	37	5	74092013	74092013	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:74092013T>A	ENST00000389156.4	-	11	1194		c.e11-2		FAM169A_ENST00000380515.3_Splice_Site|FAM169A_ENST00000510496.1_Splice_Site	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A							membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						GACTCCAATCTAAAAAACAAA	0.348																																						ENST00000389156.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						c.e11-2		family with sequence similarity 169, member A							84.0	73.0	77.0					5																	74092013		1838	4099	5937	SO:0001630	splice_region_variant	26049							g.chr5:74092013T>A		CCDS43330.1	5q13.3	2008-08-08			ENSG00000198780	ENSG00000198780			29138	protein-coding gene	gene with protein product		615769				10048485	Standard	NM_015566		Approved	KIAA0888	uc003kdm.4	Q9Y6X4	OTTHUMG00000162930	ENST00000389156.4:c.1104-2A>T	5.37:g.74092013T>A			Somatic				FAM169A_ENST00000380515.3_Splice_Site|FAM169A_ENST00000510496.1_Splice_Site		NM_015566.2	NP_056381.1	WXS	Illumina GAIIx	Phase_I	Q9Y6X4	F169A_HUMAN			11	1194	-								A8K1T9|Q6MZT0|Q9H989	Splice_Site	SNP	ENST00000389156.4	37		CCDS43330.1	.	.	.	.	.	.	.	.	.	.	T	12.82	2.051977	0.36181	.	.	ENSG00000198780	ENST00000389156;ENST00000510496	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7371	0.57232	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM169A	74127769	1.000000	0.71417	0.912000	0.35992	0.176000	0.22953	4.034000	0.57289	2.261000	0.74972	0.533000	0.62120	.		0.348	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371092.2		Intron	5	125	0	0	0	1	0	5	125				
DNAH9	1770	broad.mit.edu	37	17	11726270	11726270	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:11726270G>A	ENST00000262442.4	+	48	9233	c.9165G>A	c.(9163-9165)ttG>ttA	p.L3055L	DNAH9_ENST00000454412.2_Silent_p.L3055L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3055	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGAGCTTGTTGCACAGGCACA	0.512																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(9163-9165)ttG>ttA		dynein, axonemal, heavy chain 9							91.0	79.0	83.0					17																	11726270		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11726270G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9165G>A	17.37:g.11726270G>A			Somatic				DNAH9_ENST00000454412.2_Silent_p.L3055L	p.L3055L	NM_001372.3	NP_001363.2	WXS	Illumina GAIIx	Phase_I	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	48	9233	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3055			Stalk (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.9165G>A	CCDS11160.1																																																																																				0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		4	107	0	0	0	1	0	4	107				
GPRC5B	51704	broad.mit.edu	37	16	19884089	19884089	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:19884089C>G	ENST00000300571.2	-	2	270	c.79G>C	c.(79-81)Gcc>Ccc	p.A27P	GPRC5B_ENST00000569847.1_Missense_Mutation_p.A27P|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A27P|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A53P|GPRC5B_ENST00000569479.1_Missense_Mutation_p.A27P	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	27					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TTTTCAGAGGCCACCGAGGTG	0.577																																						ENST00000300571.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(79-81)Gcc>Ccc		G protein-coupled receptor, family C, group 5, member B							53.0	53.0	53.0					16																	19884089		2197	4300	6497	SO:0001583	missense	51704							g.chr16:19884089C>G	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.79G>C	16.37:g.19884089C>G	ENSP00000300571:p.Ala27Pro		Somatic				GPRC5B_ENST00000569479.1_Missense_Mutation_p.A27P|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A27P|GPRC5B_ENST00000569847.1_Missense_Mutation_p.A27P|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A53P	p.A27P	NM_016235.1	NP_057319.1	WXS	Illumina GAIIx	Phase_I	Q9NZH0	GPC5B_HUMAN			2	270	-			27					D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	37	c.79G>C	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975814	0.53720	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	T;T;T	0.27402	1.68;1.67;1.69	5.8	4.8	0.61643	.	0.294658	0.34178	N	0.004184	T	0.36248	0.0960	L	0.40543	1.245	0.36915	D	0.891091	D;P	0.57899	0.981;0.877	P;B	0.55161	0.77;0.296	T	0.16305	-1.0407	9	.	.	.	.	11.1641	0.48533	0.351:0.649:0.0:0.0	.	53;27	B7Z831;Q9NZH0	.;GPC5B_HUMAN	P	27;27;27;53	ENSP00000300571:A27P;ENSP00000442858:A27P;ENSP00000441775:A53P	.	A	-	1	0	GPRC5B	19791590	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	3.481000	0.53179	2.755000	0.94549	0.655000	0.94253	GCC		0.577	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			3	78	0	0	0	1	0	3	78				
SMC1B	27127	broad.mit.edu	37	22	45749891	45749891	+	Silent	SNP	G	G	A	rs71313004		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:45749891G>A	ENST00000357450.4	-	21	3239	c.3240C>T	c.(3238-3240)atC>atT	p.I1080I	SMC1B_ENST00000404354.3_Silent_p.I1080I	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	1080					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCTTCTTGTAGATTTGATCAA	0.398																																						ENST00000357450.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(3238-3240)atC>atT		structural maintenance of chromosomes 1B							136.0	122.0	127.0					22																	45749891		1861	4096	5957	SO:0001819	synonymous_variant	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45749891G>A	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.3240C>T	22.37:g.45749891G>A			Somatic				SMC1B_ENST00000404354.3_Silent_p.I1080I	p.I1080I	NM_148674.3	NP_683515.3	WXS	Illumina GAIIx	Phase_I	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	21	3239	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1080					A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Silent	SNP	ENST00000357450.4	37	c.3240C>T	CCDS43027.1																																																																																				0.398	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		14	146	0	0	0	1	0	14	146				
CCDC113	29070	broad.mit.edu	37	16	58301427	58301427	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:58301427G>T	ENST00000219299.4	+	7	907	c.828G>T	c.(826-828)aaG>aaT	p.K276N	CCDC113_ENST00000443128.2_Missense_Mutation_p.K222N	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	276						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						ATCTGGACAAGGAGATCTTGC	0.398																																						ENST00000219299.4																			0				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						c.(826-828)aaG>aaT		coiled-coil domain containing 113							101.0	96.0	97.0					16																	58301427		2198	4300	6498	SO:0001583	missense	29070					protein complex		g.chr16:58301427G>T	AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.828G>T	16.37:g.58301427G>T	ENSP00000219299:p.Lys276Asn		Somatic				CCDC113_ENST00000443128.2_Missense_Mutation_p.K222N	p.K276N	NM_014157.3	NP_054876.2	WXS	Illumina GAIIx	Phase_I	Q9H0I3	CC113_HUMAN			7	907	+			276					B2RAQ7|B4DR20|Q9NZX2	Missense_Mutation	SNP	ENST00000219299.4	37	c.828G>T	CCDS10795.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499697	0.64298	.	.	ENSG00000103021	ENST00000443128;ENST00000219299	T;T	0.35421	1.36;1.31	5.41	0.562	0.17290	.	0.327090	0.35555	N	0.003126	T	0.55497	0.1924	M	0.83953	2.67	0.39569	D	0.969257	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.54497	-0.8285	10	0.40728	T	0.16	-21.2825	7.9419	0.29963	0.4677:0.0:0.5323:0.0	.	222;276	B4DR20;Q9H0I3	.;CC113_HUMAN	N	222;276	ENSP00000402588:K222N;ENSP00000219299:K276N	ENSP00000219299:K276N	K	+	3	2	CCDC113	56858928	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	0.463000	0.21972	0.215000	0.20761	0.650000	0.86243	AAG		0.398	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257387.2	NM_014157		9	136	1	0	3.86212e-05	1	4.3495e-05	9	136				
GOLGB1	2804	broad.mit.edu	37	3	121413623	121413623	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:121413623A>T	ENST00000340645.5	-	13	5857	c.5732T>A	c.(5731-5733)cTa>cAa	p.L1911Q	GOLGB1_ENST00000393667.3_Missense_Mutation_p.L1916Q	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1911					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGTCTCCTTTAGTTTGGTAAC	0.378																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(5746-5748)cTa>cAa		golgin B1							194.0	197.0	196.0					3																	121413623		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121413623A>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.5732T>A	3.37:g.121413623A>T	ENSP00000341848:p.Leu1911Gln		Somatic				GOLGB1_ENST00000340645.5_Missense_Mutation_p.L1911Q	p.L1916Q	NM_001256486.1	NP_001243415.1	WXS	Illumina GAIIx	Phase_I	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	5857	-			1911					B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.5747T>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.466014	0.26335	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.17054	2.3;2.31	5.73	4.5	0.54988	.	0.000000	0.38959	N	0.001517	T	0.31167	0.0788	M	0.67953	2.075	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.997	D;D;D;D	0.91635	0.999;0.999;0.984;0.972	T	0.19745	-1.0296	10	0.13853	T	0.58	.	6.1403	0.20257	0.6735:0.1667:0.0:0.1598	.	1836;1916;1916;1911	F1T0J2;E7EP74;B2ZZ91;Q14789	.;.;.;GOGB1_HUMAN	Q	1911;1916	ENSP00000341848:L1911Q;ENSP00000377275:L1916Q	ENSP00000341848:L1911Q	L	-	2	0	GOLGB1	122896313	0.984000	0.35163	0.865000	0.33974	0.995000	0.86356	2.783000	0.47766	2.171000	0.68590	0.528000	0.53228	CTA		0.378	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		8	266	0	0	0	1	0	8	266				
TLR4	7099	broad.mit.edu	37	9	120470993	120470993	+	Silent	SNP	G	G	A	rs78293159		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:120470993G>A	ENST00000355622.6	+	2	347	c.246G>A	c.(244-246)gtG>gtA	p.V82V	RNU6-1082P_ENST00000364574.1_RNA|TLR4_ENST00000472304.1_Intron|TLR4_ENST00000394487.4_Silent_p.V42V	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	82					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	AACTGCAGGTGCTGGATTTAT	0.458																																						ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(244-246)gtG>gtA		toll-like receptor 4							128.0	131.0	130.0					9																	120470993		2203	4300	6503	SO:0001819	synonymous_variant	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120470993G>A	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.246G>A	9.37:g.120470993G>A			Somatic				TLR4_ENST00000472304.1_Intron|TLR4_ENST00000394487.4_Silent_p.V42V	p.V82V	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	WXS	Illumina GAIIx	Phase_I	O00206	TLR4_HUMAN			2	347	+			82					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	c.246G>A	CCDS6818.1																																																																																				0.458	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		55	361	0	0	0	1	0	55	361				
ETV7	51513	broad.mit.edu	37	6	36353326	36353326	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:36353326G>A	ENST00000340181.4	-	2	368	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L	ETV7_ENST00000339796.5_Silent_p.L43L|RP1-50J22.4_ENST00000411643.1_RNA|ETV7_ENST00000538992.1_Intron|ETV7_ENST00000373737.4_Silent_p.L43L|ETV7_ENST00000373738.1_Silent_p.L43L	NM_001207037.1|NM_001207040.1|NM_016135.3	NP_001193966.1|NP_001193969.1|NP_057219.1	Q9Y603	ETV7_HUMAN	ets variant 7	43	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						CTTCCTGGCAGCTTGCAGATC	0.483																																						ENST00000373738.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						c.(127-129)Ctg>Ttg		ets variant 7							98.0	101.0	100.0					6																	36353326		2203	4300	6503	SO:0001819	synonymous_variant	51513				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:36353326G>A	AF116508	CCDS4819.1, CCDS56422.1, CCDS56423.1, CCDS56424.1, CCDS56425.1, CCDS75440.1, CCDS75441.1	6p21	2008-09-12	2008-09-12		ENSG00000010030	ENSG00000010030			18160	protein-coding gene	gene with protein product	"""TEL2 oncogene"""	605255	"""ets variant gene 7 (TEL2 oncogene)"""			10828014, 11108721	Standard	NM_016135		Approved	TEL2, TEL-2	uc003omb.3	Q9Y603	OTTHUMG00000014594	ENST00000340181.4:c.127C>T	6.37:g.36353326G>A			Somatic				ETV7_ENST00000538992.1_Intron|ETV7_ENST00000339796.5_Silent_p.L43L|ETV7_ENST00000373737.4_Silent_p.L43L|ETV7_ENST00000340181.4_Silent_p.L43L	p.L43L	NM_001207036.1	NP_001193965.1	WXS	Illumina GAIIx	Phase_I	Q9Y603	ETV7_HUMAN			2	972	-			43			PNT.		B3KVC2|B4DVB6|B4E1G4|Q5R3L3|Q5R3L4|Q9NZ65|Q9NZ66|Q9NZ68|Q9NZR8|Q9UNJ7|Q9Y5K4|Q9Y604	Silent	SNP	ENST00000340181.4	37	c.127C>T	CCDS4819.1																																																																																				0.483	ETV7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040341.1	NM_016135		4	382	0	0	0	1	0	4	382				
SETX	23064	broad.mit.edu	37	9	135153480	135153480	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:135153480A>T	ENST00000224140.5	-	21	7001	c.6819T>A	c.(6817-6819)taT>taA	p.Y2273*	SETX_ENST00000372169.2_Nonsense_Mutation_p.Y2273*|SETX_ENST00000477049.1_5'Flank|SETX_ENST00000393220.1_Nonsense_Mutation_p.Y2273*	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2273					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AGTTTCTGTTATAAACATAAT	0.368																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(6817-6819)taT>taA		senataxin							101.0	100.0	100.0					9																	135153480		2203	4300	6503	SO:0001587	stop_gained	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135153480A>T	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.6819T>A	9.37:g.135153480A>T	ENSP00000224140:p.Tyr2273*		Somatic				SETX_ENST00000393220.1_Nonsense_Mutation_p.Y2273*|SETX_ENST00000224140.5_Nonsense_Mutation_p.Y2273*	p.Y2273*			WXS	Illumina GAIIx	Phase_I	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	21	7001	-		Myeloproliferative disorder(178;0.204)	2273					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Nonsense_Mutation	SNP	ENST00000224140.5	37	c.6819T>A	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	A	46	12.858584	0.99701	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	.	.	.	5.77	-3.89	0.04193	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2654	0.73657	0.4603:0.0:0.5397:0.0	.	.	.	.	X	2273;515;2273;2273	.	ENSP00000224140:Y2273X	Y	-	3	2	SETX	134143301	0.934000	0.31675	0.001000	0.08648	0.184000	0.23303	-0.034000	0.12225	-1.503000	0.01812	-1.964000	0.00472	TAT		0.368	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		5	145	0	0	0	1	0	5	145				
ARAP2	116984	broad.mit.edu	37	4	36069652	36069652	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:36069652A>G	ENST00000303965.4	-	33	5481	c.4992T>C	c.(4990-4992)aaT>aaC	p.N1664N		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1664					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TAGCTTTGCTATTCCTGTCCT	0.448																																						ENST00000303965.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.(4990-4992)aaT>aaC		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2							155.0	153.0	154.0					4																	36069652		2203	4300	6503	SO:0001819	synonymous_variant	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36069652A>G	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.4992T>C	4.37:g.36069652A>G			Somatic					p.N1664N	NM_015230.3	NP_056045.2	WXS	Illumina GAIIx	Phase_I	Q8WZ64	ARAP2_HUMAN			33	5481	-			1664					Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	ENST00000303965.4	37	c.4992T>C	CCDS3441.1																																																																																				0.448	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		8	372	0	0	0	1	0	8	372				
AP5M1	55745	broad.mit.edu	37	14	57741171	57741171	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:57741171C>T	ENST00000261558.3	+	2	690	c.284C>T	c.(283-285)cCa>cTa	p.P95L	AP5M1_ENST00000431972.2_Missense_Mutation_p.P109L	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	95					endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)											GAACTCTGGCCAGTTGTTGCT	0.423																																						ENST00000261558.3																			0											c.(283-285)cCa>cTa		adaptor-related protein complex 5, mu 1 subunit							92.0	85.0	87.0					14																	57741171		2203	4300	6503	SO:0001583	missense	55745				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex		g.chr14:57741171C>T	AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"""Mu-2 related death-inducing gene"""	614368	"""chromosome 14 open reading frame 108"", ""MU-2/AP1M2 domain containing, death-inducing"""	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.284C>T	14.37:g.57741171C>T	ENSP00000261558:p.Pro95Leu		Somatic				AP5M1_ENST00000431972.2_Missense_Mutation_p.P109L	p.P95L	NM_018229.3	NP_060699.3	WXS	Illumina GAIIx	Phase_I	Q9H0R1	MUDEN_HUMAN			2	690	+			95					O95354|Q6ZMD7|Q96DX3|Q9NVC5	Missense_Mutation	SNP	ENST00000261558.3	37	c.284C>T	CCDS9729.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995790	0.93167	.	.	ENSG00000053770	ENST00000261558;ENST00000431972	T;T	0.74106	-0.68;-0.81	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.86957	0.6058	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87276	0.2289	10	0.87932	D	0	.	20.14	0.98056	0.0:1.0:0.0:0.0	.	95;95	Q9H0R1;Q9H0R1-2	MUDEN_HUMAN;.	L	95;109	ENSP00000261558:P95L;ENSP00000390531:P109L	ENSP00000261558:P95L	P	+	2	0	MUDENG	56810924	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.414000	0.80117	2.837000	0.97791	0.591000	0.81541	CCA		0.423	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276922.1	NM_018229		3	74	0	0	0	1	0	3	74				
TRMT12	55039	broad.mit.edu	37	8	125463612	125463612	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:125463612C>G	ENST00000328599.3	+	1	565	c.444C>G	c.(442-444)ttC>ttG	p.F148L	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	148					tRNA processing (GO:0008033)		transferase activity (GO:0016740)			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AAGACTGTTTCCAAGCCAAGC	0.567																																						ENST00000328599.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(442-444)ttC>ttG		tRNA methyltransferase 12 homolog (S. cerevisiae)							77.0	78.0	77.0					8																	125463612		2203	4300	6503	SO:0001583	missense	55039				tRNA processing		methyltransferase activity	g.chr8:125463612C>G	AF313041	CCDS6349.1	8q24.13	2011-05-09	2006-11-16		ENSG00000183665	ENSG00000183665			26091	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 2"""	611244	"""tRNA methyltranferase 12 homolog (S. cerevisiae)"""			16005430, 17150819	Standard	NM_017956		Approved	FLJ20772, Trm12, TYW2	uc003yra.4	Q53H54	OTTHUMG00000165022	ENST00000328599.3:c.444C>G	8.37:g.125463612C>G	ENSP00000329858:p.Phe148Leu		Somatic				TRMT12_ENST00000521443.1_Intron	p.F148L	NM_017956.3	NP_060426.2	WXS	Illumina GAIIx	Phase_I	Q53H54	TYW2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		1	565	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		148					Q6PKB9|Q96F21|Q9NWK6	Missense_Mutation	SNP	ENST00000328599.3	37	c.444C>G	CCDS6349.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143626	0.57044	.	.	ENSG00000183665	ENST00000328599	T	0.22134	1.97	4.55	2.59	0.31030	.	0.000000	0.85682	D	0.000000	T	0.27697	0.0681	L	0.49256	1.55	0.52099	D	0.999948	P	0.52061	0.95	P	0.61328	0.887	T	0.30357	-0.9981	10	0.02654	T	1	-14.9229	9.0902	0.36605	0.0:0.7984:0.0:0.2016	.	148	Q53H54	TYW2_HUMAN	L	148	ENSP00000329858:F148L	ENSP00000329858:F148L	F	+	3	2	TRMT12	125532793	0.999000	0.42202	1.000000	0.80357	0.788000	0.44548	1.637000	0.37155	0.515000	0.28320	-0.367000	0.07326	TTC		0.567	TRMT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381465.1	NM_017956		6	72	0	0	0	1	0	6	72				
SETD2	29072	broad.mit.edu	37	3	47103733	47103733	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:47103733A>T	ENST00000409792.3	-	14	6255	c.6213T>A	c.(6211-6213)aaT>aaA	p.N2071K	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2071					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)			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)		TTTTCTCTTTATTTTGAGTTT	0.493			"""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		0				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.(6211-6213)aaT>aaA		SET domain containing 2							311.0	305.0	307.0					3																	47103733		2203	4300	6503	SO:0001583	missense	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.chr3:47103733A>T	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.6213T>A	3.37:g.47103733A>T	ENSP00000386759:p.Asn2071Lys		Somatic				SETD2_ENST00000492397.1_5'UTR	p.N2071K	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)	14	6255	-		Acute lymphoblastic leukemia(5;0.0169)	2071					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.6213T>A	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	A	15.29	2.788732	0.49997	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.24908	1.83	4.58	2.23	0.28157	.	0.372251	0.22188	N	0.063418	T	0.10852	0.0265	N	0.08118	0	0.31750	N	0.634724	B;B	0.19817	0.039;0.039	B;B	0.16722	0.016;0.016	T	0.07290	-1.0780	10	0.38643	T	0.18	.	4.7914	0.13250	0.5665:0.0:0.4335:0.0	.	2071;2071	F2Z317;Q9BYW2	.;SETD2_HUMAN	K	2071	ENSP00000386759:N2071K	ENSP00000386759:N2071K	N	-	3	2	SETD2	47078737	0.990000	0.36364	1.000000	0.80357	0.971000	0.66376	0.682000	0.25335	0.884000	0.36064	0.374000	0.22700	AAT		0.493	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		7	531	0	0	0	1	0	7	531				
FGD4	121512	broad.mit.edu	37	12	32777354	32777354	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:32777354A>T	ENST00000427716.2	+	12	1935		c.e12-1		FGD4_ENST00000381025.3_Splice_Site|FGD4_ENST00000531134.1_Splice_Site|FGD4_ENST00000266482.3_Splice_Site|FGD4_ENST00000525053.1_Splice_Site|FGD4_ENST00000546442.1_Splice_Site|FGD4_ENST00000534526.2_Splice_Site	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4						actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GTTTTATTTTAGTTCTGCGCA	0.333																																						ENST00000427716.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.e12-1		FYVE, RhoGEF and PH domain containing 4							63.0	66.0	65.0					12																	32777354		2203	4300	6503	SO:0001630	splice_region_variant	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32777354A>T	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.1512-1A>T	12.37:g.32777354A>T			Somatic				FGD4_ENST00000266482.3_Splice_Site|FGD4_ENST00000381025.3_Splice_Site|FGD4_ENST00000525053.1_Splice_Site|FGD4_ENST00000531134.1_Splice_Site|FGD4_ENST00000534526.2_Splice_Site|FGD4_ENST00000546442.1_Splice_Site		NM_139241.2	NP_640334.2	WXS	Illumina GAIIx	Phase_I	Q96M96	FGD4_HUMAN			12	1935	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)							Q6ULS2|Q8TCP6	Splice_Site	SNP	ENST00000427716.2	37		CCDS8727.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.363354	0.82353	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053;ENST00000381025	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.708	0.77602	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FGD4	32668621	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.845000	0.86875	2.163000	0.67991	0.533000	0.62120	.		0.333	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241	Intron	4	82	0	0	0	1	0	4	82				
PCDH12	51294	broad.mit.edu	37	5	141336357	141336357	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:141336357C>T	ENST00000231484.3	-	1	2270	c.1060G>A	c.(1060-1062)Gtc>Atc	p.V354I	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	354					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)			GCCCATGTGACGTGGATGCTT	0.507																																						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.(1060-1062)Gtc>Atc		protocadherin 12							134.0	119.0	124.0					5																	141336357		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141336357C>T	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.1060G>A	5.37:g.141336357C>T	ENSP00000231484:p.Val354Ile		Somatic					p.V354I	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	2270	-		all_hematologic(541;0.0999)	354					Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.1060G>A	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.396490	0.01175	.	.	ENSG00000113555	ENST00000231484	T	0.61040	0.14	5.32	-0.362	0.12560	Cadherin-like (1);	0.624229	0.17547	N	0.170310	T	0.22820	0.0551	N	0.02345	-0.59	0.27666	N	0.94692	B	0.06786	0.001	B	0.01281	0.0	T	0.32587	-0.9901	10	0.02654	T	1	.	8.8161	0.34996	0.0:0.418:0.0:0.582	.	354	Q9NPG4	PCD12_HUMAN	I	354	ENSP00000231484:V354I	ENSP00000231484:V354I	V	-	1	0	PCDH12	141316541	0.554000	0.26522	0.938000	0.37757	0.656000	0.38851	0.221000	0.17680	-0.179000	0.10654	-0.345000	0.07892	GTC		0.507	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		5	350	0	0	0	1	0	5	350				
DHX30	22907	broad.mit.edu	37	3	47887919	47887919	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:47887919G>T	ENST00000445061.1	+	11	1764	c.1357G>T	c.(1357-1359)Gtg>Ttg	p.V453L	DHX30_ENST00000446256.2_Missense_Mutation_p.V414L|DHX30_ENST00000457607.1_Missense_Mutation_p.V481L|DHX30_ENST00000348968.4_Missense_Mutation_p.V425L	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	453	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GCACCCGGTGGTGGTCATCTC	0.672																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(1240-1242)Gtg>Ttg		DEAH (Asp-Glu-Ala-His) box helicase 30							66.0	68.0	68.0					3																	47887919		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47887919G>T	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.1357G>T	3.37:g.47887919G>T	ENSP00000405620:p.Val453Leu		Somatic				DHX30_ENST00000457607.1_Missense_Mutation_p.V481L|DHX30_ENST00000445061.1_Missense_Mutation_p.V453L|DHX30_ENST00000348968.4_Missense_Mutation_p.V425L	p.V414L	NM_014966.3	NP_055781.2	WXS	Illumina GAIIx	Phase_I	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	12	1812	+			453					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.1240G>T	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.692578	0.48202	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03152	4.03;4.03;4.03;4.03	5.23	4.34	0.51931	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.05273	0.0140	L	0.39326	1.205	0.58432	D	0.999992	P;B	0.45126	0.851;0.278	B;B	0.43838	0.433;0.178	T	0.53954	-0.8365	10	0.21540	T	0.41	.	14.8763	0.70496	0.0:0.1441:0.8559:0.0	.	453;414	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	L	414;453;425;481	ENSP00000392601:V414L;ENSP00000405620:V453L;ENSP00000343442:V425L;ENSP00000394682:V481L	ENSP00000343442:V425L	V	+	1	0	DHX30	47862923	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.437000	0.66544	1.170000	0.42753	0.655000	0.94253	GTG		0.672	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		4	128	1	0	0.184627	1	0.188467	4	128				
PLXNB3	5365	broad.mit.edu	37	X	153036318	153036318	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:153036318C>A	ENST00000361971.5	+	11	2230	c.2116C>A	c.(2116-2118)Cgg>Agg	p.R706R	PLXNB3_ENST00000538966.1_Silent_p.R729R|PLXNB3_ENST00000538282.1_Silent_p.R316R|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538776.1_Silent_p.R359R	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	706					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTACGCGTGCGGAACCTTCA	0.642																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(2185-2187)Cgg>Agg		plexin B3							80.0	72.0	75.0					X																	153036318		2201	4299	6500	SO:0001819	synonymous_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153036318C>A	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.2116C>A	X.37:g.153036318C>A			Somatic				PLXNB3_ENST00000538776.1_Silent_p.R359R|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Silent_p.R316R|PLXNB3_ENST00000361971.5_Silent_p.R706R	p.R729R	NM_001163257.1	NP_001156729.1	WXS	Illumina GAIIx	Phase_I	Q9ULL4	PLXB3_HUMAN			12	2456	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		706					B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	c.2185C>A	CCDS14729.1																																																																																				0.642	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			4	7	1	0	0.184627	1	0.188467	4	7				
C14orf93	60686	broad.mit.edu	37	14	23468012	23468012	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:23468012C>T	ENST00000299088.6	-	2	650	c.221G>A	c.(220-222)gGt>gAt	p.G74D	RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000397377.1_Intron|C14orf93_ENST00000557513.1_5'Flank|C14orf93_ENST00000397382.4_Missense_Mutation_p.G74D|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000406429.2_Missense_Mutation_p.G74D|C14orf93_ENST00000397379.3_Missense_Mutation_p.G74D|C14orf93_ENST00000341470.4_Missense_Mutation_p.G74D	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	74						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		TTCAGCCAAACCCACTGCCTT	0.557																																						ENST00000299088.6																			0				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(220-222)gGt>gAt		chromosome 14 open reading frame 93							54.0	48.0	50.0					14																	23468012		2203	4300	6503	SO:0001583	missense	60686					extracellular region		g.chr14:23468012C>T	AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.221G>A	14.37:g.23468012C>T	ENSP00000299088:p.Gly74Asp		Somatic				C14orf93_ENST00000406429.2_Missense_Mutation_p.G74D|C14orf93_ENST00000397377.1_Intron|C14orf93_ENST00000397382.4_Missense_Mutation_p.G74D|C14orf93_ENST00000341470.4_Missense_Mutation_p.G74D|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000397379.3_Missense_Mutation_p.G74D	p.G74D	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	WXS	Illumina GAIIx	Phase_I	Q9H972	CN093_HUMAN		GBM - Glioblastoma multiforme(265;0.0127)	2	650	-	all_cancers(95;3.3e-05)		74					B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Missense_Mutation	SNP	ENST00000299088.6	37	c.221G>A	CCDS9583.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775112	0.90108	.	.	ENSG00000100802	ENST00000299088;ENST00000341470;ENST00000397379;ENST00000397382;ENST00000406429;ENST00000397380;ENST00000553675;ENST00000553931;ENST00000555575;ENST00000553958;ENST00000555098	T;T;T;T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000001	T	0.57388	0.2050	L	0.29908	0.895	0.47949	D	0.999552	D;D	0.63046	0.992;0.992	P;P	0.62740	0.906;0.906	T	0.59473	-0.7448	10	0.72032	D	0.01	-30.008	18.6051	0.91263	0.0:1.0:0.0:0.0	.	74;74	Q9H972;Q9H972-2	CN093_HUMAN;.	D	74	ENSP00000299088:G74D;ENSP00000341353:G74D;ENSP00000380535:G74D;ENSP00000380538:G74D;ENSP00000384768:G74D;ENSP00000380536:G74D;ENSP00000450771:G74D;ENSP00000452036:G74D;ENSP00000451111:G74D;ENSP00000451456:G74D;ENSP00000450866:G74D	ENSP00000299088:G74D	G	-	2	0	C14orf93	22537852	0.998000	0.40836	0.982000	0.44146	0.966000	0.64601	4.527000	0.60573	2.701000	0.92244	0.561000	0.74099	GGT		0.557	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071688.5	NM_021944		157	57	0	0	0	1	0	157	57				
ABCC1	4363	broad.mit.edu	37	16	16173246	16173246	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:16173246G>T	ENST00000399410.3	+	16	2201	c.2026G>T	c.(2026-2028)Gtg>Ttg	p.V676L	ABCC1_ENST00000345148.5_Missense_Mutation_p.V676L|ABCC1_ENST00000351154.5_Missense_Mutation_p.V676L|ABCC1_ENST00000346370.5_Missense_Mutation_p.V676L|ABCC1_ENST00000399408.2_Missense_Mutation_p.V676L|ABCC1_ENST00000349029.5_Missense_Mutation_p.V676L	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	676	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)	TTTGGTGGCCGTGGTGGGCCA	0.602																																						ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(2026-2028)Gtg>Ttg		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						80.0	83.0	82.0					16																	16173246		2093	4222	6315	SO:0001583	missense	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.chr16:16173246G>T	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.2026G>T	16.37:g.16173246G>T	ENSP00000382342:p.Val676Leu		Somatic				ABCC1_ENST00000399410.3_Missense_Mutation_p.V676L|ABCC1_ENST00000349029.5_Missense_Mutation_p.V676L|ABCC1_ENST00000346370.5_Missense_Mutation_p.V676L|ABCC1_ENST00000351154.5_Missense_Mutation_p.V676L|ABCC1_ENST00000345148.5_Missense_Mutation_p.V676L	p.V676L			WXS	Illumina GAIIx	Phase_I	P33527	MRP1_HUMAN			16	2201	+			676			ABC transporter 1.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.2026G>T	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.913024	0.72983	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82;-2.82	4.77	4.77	0.60923	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.92648	0.7664	L	0.37850	1.14	0.54753	D	0.999989	D;D;D;D;P;D	0.89917	0.999;1.0;0.997;0.998;0.927;1.0	D;D;D;D;P;D	0.87578	0.995;0.998;0.995;0.972;0.595;0.997	D	0.92746	0.6212	10	0.45353	T	0.12	-24.7728	16.7985	0.85608	0.0:0.0:1.0:0.0	.	676;676;676;676;676;676	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	L	676;676;676;676;676;676;350	ENSP00000382342:V676L;ENSP00000382340:V676L;ENSP00000263019:V676L;ENSP00000263017:V676L;ENSP00000263014:V676L;ENSP00000263016:V676L	ENSP00000263014:V676L	V	+	1	0	ABCC1	16080747	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.689000	0.61723	2.207000	0.71202	0.563000	0.77884	GTG		0.602	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		17	572	1	0	9.95505e-16	1	1.27746e-15	17	572				
WHSC1	7468	broad.mit.edu	37	4	1902443	1902443	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:1902443T>A	ENST00000382895.3	+	4	493	c.62T>A	c.(61-63)aTg>aAg	p.M21K	WHSC1_ENST00000382892.2_Missense_Mutation_p.M21K|WHSC1_ENST00000508803.1_Missense_Mutation_p.M21K|WHSC1_ENST00000398261.1_Missense_Mutation_p.M21K|WHSC1_ENST00000436793.1_Missense_Mutation_p.M21K|WHSC1_ENST00000503128.1_Missense_Mutation_p.M21K|WHSC1_ENST00000420906.2_Missense_Mutation_p.M21K|WHSC1_ENST00000514045.1_Missense_Mutation_p.M21K|WHSC1_ENST00000382891.5_Missense_Mutation_p.M21K	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	21					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGCATAAAGATGAAGCAGGCA	0.507			T	IGH@	MM																																	ENST00000503128.1				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(61-63)aTg>aAg		Wolf-Hirschhorn syndrome candidate 1							123.0	135.0	131.0					4																	1902443		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1902443T>A	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.62T>A	4.37:g.1902443T>A	ENSP00000372351:p.Met21Lys		Somatic				WHSC1_ENST00000508803.1_Missense_Mutation_p.M21K|WHSC1_ENST00000420906.2_Missense_Mutation_p.M21K|WHSC1_ENST00000398261.1_Missense_Mutation_p.M21K|WHSC1_ENST00000436793.1_Missense_Mutation_p.M21K|WHSC1_ENST00000382895.3_Missense_Mutation_p.M21K|WHSC1_ENST00000514045.1_Missense_Mutation_p.M21K|WHSC1_ENST00000382892.2_Missense_Mutation_p.M21K|WHSC1_ENST00000382891.5_Missense_Mutation_p.M21K	p.M21K			WXS	Illumina GAIIx	Phase_I	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	2	269	+		all_epithelial(65;1.34e-05)	21					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.62T>A	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.347324	0.82022	.	.	ENSG00000109685	ENST00000508803;ENST00000507820;ENST00000514045;ENST00000515806;ENST00000382891;ENST00000382892;ENST00000436793;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	D;T;T;D;D;T;T;D;T;T;T	0.95980	-3.87;0.38;0.31;-3.87;-3.87;0.37;0.38;-3.87;0.34;0.58;0.34	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000001	D	0.96454	0.8843	L	0.44542	1.39	0.48901	D	0.999728	D;D;D;D;D	0.64830	0.994;0.984;0.99;0.994;0.992	D;D;D;D;D	0.73708	0.981;0.964;0.961;0.981;0.974	D	0.97134	0.9820	10	0.72032	D	0.01	.	15.7616	0.78087	0.0:0.0:0.0:1.0	.	21;21;21;21;21	O96028-3;O96028-7;O96028;O96028-5;O96028-6	.;.;NSD2_HUMAN;.;.	K	21	ENSP00000423972:M21K;ENSP00000421681:M21K;ENSP00000427434:M21K;ENSP00000372347:M21K;ENSP00000372348:M21K;ENSP00000416725:M21K;ENSP00000399251:M21K;ENSP00000372351:M21K;ENSP00000425761:M21K;ENSP00000422878:M21K;ENSP00000381311:M21K	ENSP00000308780:M21K	M	+	2	0	WHSC1	1872241	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	6.098000	0.71458	2.118000	0.64928	0.533000	0.62120	ATG		0.507	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		6	176	0	0	0	1	0	6	176				
ADCY3	109	broad.mit.edu	37	2	25050925	25050925	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:25050925G>T	ENST00000260600.5	-	13	3129	c.2278C>A	c.(2278-2280)Ctg>Atg	p.L760M	ADCY3_ENST00000405392.1_Intron|RP11-443B20.1_ENST00000606114.1_RNA|ADCY3_ENST00000450524.1_5'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	760					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					ATGAGGGACAGCACGGCCACA	0.592											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(2278-2280)Ctg>Atg		adenylate cyclase 3							115.0	88.0	97.0					2																	25050925		2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25050925G>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2278C>A	2.37:g.25050925G>T	ENSP00000260600:p.Leu760Met		Somatic	OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	776	ADCY3_ENST00000450524.1_5'UTR|ADCY3_ENST00000405392.1_Intron	p.L760M	NM_004036.3	NP_004027.2	WXS	Illumina GAIIx	Phase_I	O60266	ADCY3_HUMAN			13	3129	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		760					B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.2278C>A	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036663	0.75617	.	.	ENSG00000138031	ENST00000260600;ENST00000415879;ENST00000455323;ENST00000450524	T;T;T	0.74842	-0.88;-0.88;-0.88	5.24	3.42	0.39159	.	0.074556	0.56097	D	0.000031	T	0.77942	0.4206	M	0.73217	2.22	0.80722	D	1	D;D	0.61080	0.989;0.989	P;P	0.51324	0.666;0.666	T	0.80101	-0.1523	10	0.56958	D	0.05	.	11.4928	0.50391	0.1484:0.0:0.8516:0.0	.	760;760	B7ZLX9;O60266	.;ADCY3_HUMAN	M	760;735;99;103	ENSP00000260600:L760M;ENSP00000402008:L99M;ENSP00000410972:L103M	ENSP00000260600:L760M	L	-	1	2	ADCY3	24904429	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	3.184000	0.50926	1.445000	0.47624	0.561000	0.74099	CTG		0.592	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			15	77	1	0	5.3912e-06	1	6.30044e-06	15	77				
MYO1E	4643	broad.mit.edu	37	15	59519787	59519787	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:59519787T>C	ENST00000288235.4	-	7	912	c.513A>G	c.(511-513)ggA>ggG	p.G171G	MYO1E_ENST00000558814.1_5'UTR	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	171	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CAAAGTATTTTCCCTGCAAGA	0.408																																						ENST00000288235.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33						c.(511-513)ggA>ggG		myosin IE							95.0	94.0	95.0					15																	59519787		2190	4290	6480	SO:0001819	synonymous_variant	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59519787T>C	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.513A>G	15.37:g.59519787T>C			Somatic				MYO1E_ENST00000558814.1_5'UTR	p.G171G	NM_004998.3	NP_004989.2	WXS	Illumina GAIIx	Phase_I	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	7	912	-			171			Myosin head-like.		Q14778	Silent	SNP	ENST00000288235.4	37	c.513A>G	CCDS32254.1																																																																																				0.408	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		8	766	0	0	0	1	0	8	766				
SPOCD1	90853	broad.mit.edu	37	1	32262283	32262283	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:32262283G>A	ENST00000360482.2	-	10	2308	c.2179C>T	c.(2179-2181)Ccg>Tcg	p.P727S	SPOCD1_ENST00000257100.3_Missense_Mutation_p.P220S|SPOCD1_ENST00000533231.1_Missense_Mutation_p.P727S|SPOCD1_ENST00000373648.2_3'UTR	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	727	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AGTCTGCACGGCTCCTTCTGT	0.562																																						ENST00000360482.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37						c.(2179-2181)Ccg>Tcg		SPOC domain containing 1							151.0	142.0	145.0					1																	32262283		2203	4300	6503	SO:0001583	missense	90853				transcription, DNA-dependent			g.chr1:32262283G>A	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.2179C>T	1.37:g.32262283G>A	ENSP00000353670:p.Pro727Ser		Somatic				SPOCD1_ENST00000257100.3_Missense_Mutation_p.P220S|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000533231.1_Missense_Mutation_p.P727S	p.P727S	NM_144569.4	NP_653170.3	WXS	Illumina GAIIx	Phase_I	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	10	2308	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	727			TFIIS central.		Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	c.2179C>T	CCDS347.1	.	.	.	.	.	.	.	.	.	.	G	7.063	0.566848	0.13560	.	.	ENSG00000134668	ENST00000257100;ENST00000360482;ENST00000294514;ENST00000452755;ENST00000533231	T;T;T;T	0.41758	0.99;1.98;1.0;1.98	4.34	3.34	0.38264	Transcription elongation factor S-II, central domain (1);	.	.	.	.	T	0.40015	0.1100	L	0.51422	1.61	0.80722	D	1	P;D;P;D	0.59767	0.879;0.986;0.93;0.976	B;P;B;P	0.51516	0.301;0.672;0.304;0.472	T	0.21177	-1.0253	9	0.08381	T	0.77	-1.2455	9.2428	0.37506	0.0:0.2909:0.7091:0.0	.	71;727;164;727	Q6ZMY3-4;Q6ZMY3-2;E9PPM7;Q6ZMY3	.;.;.;SPOC1_HUMAN	S	220;727;125;164;727	ENSP00000257100:P220S;ENSP00000353670:P727S;ENSP00000399778:P164S;ENSP00000435851:P727S	ENSP00000257100:P220S	P	-	1	0	SPOCD1	32034870	0.197000	0.23362	0.895000	0.35142	0.874000	0.50279	0.932000	0.28884	2.140000	0.66376	0.462000	0.41574	CCG		0.562	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		29	46	0	0	0	1	0	29	46				
AWAT1	158833	broad.mit.edu	37	X	69459704	69459704	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:69459704A>T	ENST00000374521.3	+	6	793	c.752A>T	c.(751-753)tAc>tTc	p.Y251F		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	251					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						TTTGGTTTCTACTGTTGTGTC	0.502																																						ENST00000374521.3																			0				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						c.(751-753)tAc>tTc		acyl-CoA wax alcohol acyltransferase 1							133.0	118.0	123.0					X																	69459704		2203	4300	6503	SO:0001583	missense	158833				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity	g.chrX:69459704A>T	BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"""diacylglycerol O-acyltransferase 2-like 3"""	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.752A>T	X.37:g.69459704A>T	ENSP00000363645:p.Tyr251Phe		Somatic					p.Y251F	NM_001013579.2	NP_001013597.1	WXS	Illumina GAIIx	Phase_I	Q58HT5	AWAT1_HUMAN			6	793	+			251					Q5JT21|Q6IEE4	Missense_Mutation	SNP	ENST00000374521.3	37	c.752A>T	CCDS35321.1	.	.	.	.	.	.	.	.	.	.	A	18.44	3.623457	0.66901	.	.	ENSG00000204195	ENST00000374521	T	0.13420	2.59	5.39	4.2	0.49525	.	0.215164	0.31156	N	0.008143	T	0.22360	0.0539	M	0.63428	1.95	0.29897	N	0.824695	D	0.53619	0.961	P	0.51324	0.666	T	0.06320	-1.0833	10	0.41790	T	0.15	-13.4372	10.1129	0.42574	0.529:0.4709:0.0:0.0	.	251	Q58HT5	AWAT1_HUMAN	F	251	ENSP00000363645:Y251F	ENSP00000363645:Y251F	Y	+	2	0	AWAT1	69376429	1.000000	0.71417	0.652000	0.29579	0.860000	0.49131	5.799000	0.69101	0.812000	0.34326	0.441000	0.28932	TAC		0.502	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057066.3	NM_001013579		7	568	0	0	0	1	0	7	568				
AFF2	2334	broad.mit.edu	37	X	147743694	147743694	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:147743694T>A	ENST00000370460.2	+	3	925	c.446T>A	c.(445-447)aTa>aAa	p.I149K	AFF2_ENST00000370457.5_Missense_Mutation_p.I145K|AFF2_ENST00000342251.3_Missense_Mutation_p.I145K|AFF2_ENST00000370458.1_Missense_Mutation_p.I145K	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	149					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TCAACTCTAATACACAGCAAC	0.453																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(445-447)aTa>aAa		AF4/FMR2 family, member 2							189.0	183.0	185.0					X																	147743694		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147743694T>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.446T>A	X.37:g.147743694T>A	ENSP00000359489:p.Ile149Lys		Somatic				AFF2_ENST00000342251.3_Missense_Mutation_p.I145K|AFF2_ENST00000370457.5_Missense_Mutation_p.I145K|AFF2_ENST00000370458.1_Missense_Mutation_p.I145K	p.I149K	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	WXS	Illumina GAIIx	Phase_I	P51816	AFF2_HUMAN			3	925	+	Acute lymphoblastic leukemia(192;6.56e-05)		149					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.446T>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	T	15.16	2.750251	0.49257	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.31	5.31	0.75309	.	0.271177	0.37483	N	0.002072	T	0.62792	0.2457	N	0.19112	0.55	0.80722	D	1	P;P;P;D;D;P	0.67145	0.949;0.949;0.949;0.995;0.996;0.839	P;P;P;D;D;B	0.78314	0.498;0.498;0.498;0.984;0.991;0.395	T	0.62296	-0.6884	10	0.33940	T	0.23	.	9.2095	0.37309	0.0:0.0824:0.0:0.9176	.	149;145;145;145;149;145	P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;AFF2_HUMAN;.	K	149;145;145;145	ENSP00000359489:I149K;ENSP00000359486:I145K;ENSP00000345459:I145K;ENSP00000359487:I145K	ENSP00000345459:I145K	I	+	2	0	AFF2	147551386	1.000000	0.71417	0.928000	0.36995	0.856000	0.48823	4.170000	0.58229	1.891000	0.54761	0.486000	0.48141	ATA		0.453	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		7	446	0	0	0	1	0	7	446				
MTMR11	10903	broad.mit.edu	37	1	149907008	149907008	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:149907008G>A	ENST00000439741.2	-	5	589	c.339C>T	c.(337-339)tcC>tcT	p.S113S	MTMR11_ENST00000361405.6_Silent_p.S113S|MTMR11_ENST00000369140.3_Silent_p.S41S|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_Silent_p.S85S	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	113							phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GCTGGACTCGGGACAAGCCGC	0.547																																						ENST00000439741.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34						c.(337-339)tcC>tcT		myotubularin related protein 11							58.0	64.0	62.0					1																	149907008		2203	4300	6503	SO:0001819	synonymous_variant	10903						phosphatase activity	g.chr1:149907008G>A	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.339C>T	1.37:g.149907008G>A			Somatic				MTMR11_ENST00000406732.3_Silent_p.S85S|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Silent_p.S113S|MTMR11_ENST00000369140.3_Silent_p.S41S	p.S113S	NM_001145862.1	NP_001139334.1	WXS	Illumina GAIIx	Phase_I	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		5	589	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		113					B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Silent	SNP	ENST00000439741.2	37	c.339C>T	CCDS53360.1																																																																																				0.547	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		4	117	0	0	0	1	0	4	117				
AKAP9	10142	broad.mit.edu	37	7	91667731	91667731	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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_ENST00000356239.3_Splice_Site|AKAP9_ENST00000358100.2_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	43	0	0	0	1	0	5	43				
NPY2R	4887	broad.mit.edu	37	4	156135042	156135042	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:156135042A>T	ENST00000329476.3	+	2	441		c.e2-1		NPY2R_ENST00000506608.1_Splice_Site	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	ttTTCTTTTTAGGTTGTAGAC	0.398																																						ENST00000329476.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36						c.e2-1		neuropeptide Y receptor Y2							44.0	46.0	45.0					4																	156135042		2202	4298	6500	SO:0001630	splice_region_variant	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156135042A>T	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.-48-1A>T	4.37:g.156135042A>T			Somatic				NPY2R_ENST00000506608.1_Splice_Site		NM_000910.2	NP_000901.1	WXS	Illumina GAIIx	Phase_I	P49146	NPY2R_HUMAN			2	441	+	all_hematologic(180;0.24)	Renal(120;0.0854)						Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Splice_Site	SNP	ENST00000329476.3	37		CCDS3791.1																																																																																				0.398	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910	Intron	4	94	0	0	0	1	0	4	94				
C1orf50	79078	broad.mit.edu	37	1	43240464	43240464	+	Silent	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:43240464G>T	ENST00000372525.5	+	4	382	c.339G>T	c.(337-339)gtG>gtT	p.V113V	C1orf50_ENST00000536543.1_5'UTR|RP5-994D16.9_ENST00000447572.1_RNA|C1orf50_ENST00000468913.2_3'UTR	NM_024097.3	NP_077002.2	Q9BV19	CA050_HUMAN	chromosome 1 open reading frame 50	113										large_intestine(2)|ovary(1)|pancreas(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTAATATAGTGAAAAAACCTG	0.378																																						ENST00000372525.5																			0				large_intestine(2)|ovary(1)|pancreas(1)	4						c.(337-339)gtG>gtT		chromosome 1 open reading frame 50							129.0	129.0	129.0					1																	43240464		2203	4300	6503	SO:0001819	synonymous_variant	79078							g.chr1:43240464G>T	BC001711	CCDS473.1	1p34.2	2012-06-25			ENSG00000164008	ENSG00000164008			28795	protein-coding gene	gene with protein product						12477932	Standard	NM_024097		Approved	MGC955	uc001cia.4	Q9BV19	OTTHUMG00000007568	ENST00000372525.5:c.339G>T	1.37:g.43240464G>T			Somatic				C1orf50_ENST00000536543.1_5'UTR|C1orf50_ENST00000468913.2_3'UTR	p.V113V	NM_024097.3	NP_077002.2	WXS	Illumina GAIIx	Phase_I	Q9BV19	CA050_HUMAN			4	382	+	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	113						Silent	SNP	ENST00000372525.5	37	c.339G>T	CCDS473.1																																																																																				0.378	C1orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020001.2	NM_024097		4	148	1	0	2.56e-06	1	3.00367e-06	4	148				
SYNE1	23345	broad.mit.edu	37	6	152708494	152708494	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:152708494G>T	ENST00000367255.5	-	54	8801	c.8200C>A	c.(8200-8202)Caa>Aaa	p.Q2734K	SYNE1_ENST00000423061.1_Missense_Mutation_p.Q2741K|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q2741K|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q2773K|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q2734K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2734					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCATTCCATTGGCTAATCACA	0.368										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(8200-8202)Caa>Aaa		spectrin repeat containing, nuclear envelope 1							141.0	130.0	134.0					6																	152708494		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152708494G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8200C>A	6.37:g.152708494G>T	ENSP00000356224:p.Gln2734Lys	HNSCC(10;0.0054)	Somatic				SYNE1_ENST00000423061.1_Missense_Mutation_p.Q2741K|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q2734K|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q2773K|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q2741K	p.Q2734K	NM_182961.3	NP_892006.3	WXS	Illumina GAIIx	Phase_I	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	54	8801	-		Ovarian(120;0.0955)	2734					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.8200C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	14.43	2.531759	0.45073	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	5.85	4.97	0.65823	.	0.206032	0.33813	N	0.004540	T	0.20780	0.0500	M	0.69823	2.125	0.80722	D	1	B;B;B;B	0.18461	0.001;0.009;0.009;0.028	B;B;B;B	0.21546	0.005;0.009;0.009;0.035	T	0.24154	-1.0168	10	0.08179	T	0.78	.	16.1027	0.81194	0.0:0.0:0.8585:0.1415	.	2717;2734;2734;2741	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	2734;2741;2734;2741;2773	ENSP00000356224:Q2734K;ENSP00000396024:Q2741K;ENSP00000265368:Q2734K;ENSP00000390975:Q2741K;ENSP00000341887:Q2773K	ENSP00000265368:Q2734K	Q	-	1	0	SYNE1	152750187	1.000000	0.71417	0.971000	0.41717	0.982000	0.71751	5.236000	0.65354	1.439000	0.47511	0.655000	0.94253	CAA		0.368	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		5	219	1	0	0.00116845	1	0.00127921	5	219				
ATP10B	23120	broad.mit.edu	37	5	160061536	160061536	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:160061536A>G	ENST00000327245.5	-	12	2052	c.1206T>C	c.(1204-1206)ctT>ctC	p.L402L	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	402					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATACAGGTCAAGGTCATTGC	0.478																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(1204-1206)ctT>ctC		ATPase, class V, type 10B							140.0	135.0	137.0					5																	160061536		1979	4158	6137	SO:0001819	synonymous_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160061536A>G	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1206T>C	5.37:g.160061536A>G			Somatic				CTC-348L5.1_ENST00000523598.1_RNA	p.L402L	NM_025153.2	NP_079429.2	WXS	Illumina GAIIx	Phase_I	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		12	2052	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	402					Q9H725	Silent	SNP	ENST00000327245.5	37	c.1206T>C	CCDS43394.1																																																																																				0.478	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		5	502	0	0	0	1	0	5	502				
LRP1	4035	broad.mit.edu	37	12	57567703	57567703	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:57567703G>A	ENST00000243077.3	+	22	3953	c.3487G>A	c.(3487-3489)Gac>Aac	p.D1163N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1163	LDL-receptor class A 10. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)	CCTGCCCCCTGACAAGCTGTG	0.632																																						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.(3487-3489)Gac>Aac		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						132.0	94.0	107.0					12																	57567703		2203	4300	6503	SO:0001583	missense	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.chr12:57567703G>A	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.3487G>A	12.37:g.57567703G>A	ENSP00000243077:p.Asp1163Asn		Somatic					p.D1163N	NM_002332.2	NP_002323.2	WXS	Illumina GAIIx	Phase_I	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	22	3953	+			1163			LDL-receptor class A 10.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.3487G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174212	0.78452	.	.	ENSG00000123384	ENST00000243077	D	0.95482	-3.72	5.03	5.03	0.67393	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.146942	0.43110	D	0.000606	D	0.89914	0.6853	N	0.11427	0.14	0.80722	D	1	B	0.27625	0.183	B	0.30943	0.122	D	0.86740	0.1954	10	0.22109	T	0.4	.	17.2939	0.87164	0.0:0.0:1.0:0.0	.	1163	Q07954	LRP1_HUMAN	N	1163	ENSP00000243077:D1163N	ENSP00000243077:D1163N	D	+	1	0	LRP1	55853970	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.860000	0.86993	2.619000	0.88677	0.491000	0.48974	GAC		0.632	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		4	89	0	0	0	1	0	4	89				
RCSD1	92241	broad.mit.edu	37	1	167653164	167653164	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:167653164G>T	ENST00000367854.3	+	2	365	c.34G>T	c.(34-36)Gtg>Ttg	p.V12L	RCSD1_ENST00000537350.1_Missense_Mutation_p.V12L	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	12					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CAATGCCAATGTGGACAACTC	0.587																																						ENST00000367854.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24						c.(34-36)Gtg>Ttg		RCSD domain containing 1							150.0	162.0	158.0					1																	167653164		2203	4300	6503	SO:0001583	missense	92241							g.chr1:167653164G>T	BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.34G>T	1.37:g.167653164G>T	ENSP00000356828:p.Val12Leu		Somatic				RCSD1_ENST00000537350.1_Missense_Mutation_p.V12L	p.V12L	NM_052862.3	NP_443094.3	WXS	Illumina GAIIx	Phase_I	Q6JBY9	CPZIP_HUMAN			2	365	+	all_hematologic(923;0.215)		12					B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Missense_Mutation	SNP	ENST00000367854.3	37	c.34G>T	CCDS1263.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891743	0.52014	.	.	ENSG00000198771	ENST00000367854;ENST00000361496;ENST00000537350	T;T	0.58210	0.35;0.54	5.25	5.25	0.73442	.	0.363121	0.24713	N	0.036218	T	0.58821	0.2149	L	0.57536	1.79	0.29738	N	0.837351	D;D	0.76494	0.994;0.999	D;D	0.76071	0.978;0.987	T	0.64829	-0.6315	9	0.62326	D	0.03	-23.15	11.1679	0.48554	0.0857:0.0:0.9143:0.0	.	12;12	B7ZKW8;Q6JBY9	.;CPZIP_HUMAN	L	12	ENSP00000356828:V12L;ENSP00000439409:V12L	ENSP00000355291:V12L	V	+	1	0	RCSD1	165919788	0.999000	0.42202	0.934000	0.37439	0.098000	0.18820	3.780000	0.55386	2.429000	0.82318	0.655000	0.94253	GTG		0.587	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1	NM_052862		130	820	1	0	4.08915e-86	1	5.64054e-86	130	820				
NUP85	79902	broad.mit.edu	37	17	73221470	73221470	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:73221470C>A	ENST00000245544.4	+	9	837	c.766C>A	c.(766-768)Ctg>Atg	p.L256M	NUP85_ENST00000541827.1_Missense_Mutation_p.L210M|NUP85_ENST00000447371.2_Missense_Mutation_p.L88M|NUP85_ENST00000540768.1_5'Flank|NUP85_ENST00000579298.1_Missense_Mutation_p.L211M|NUP85_ENST00000579324.1_Missense_Mutation_p.L144M|NUP85_ENST00000449421.2_3'UTR	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	256					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			AGAGCTGGAGCTGAAGTGGCA	0.562																																						ENST00000447371.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16						c.(262-264)Ctg>Atg		nucleoporin 85kDa							70.0	61.0	64.0					17																	73221470		2203	4300	6503	SO:0001583	missense	79902				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	g.chr17:73221470C>A	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.766C>A	17.37:g.73221470C>A	ENSP00000245544:p.Leu256Met		Somatic				NUP85_ENST00000245544.4_Missense_Mutation_p.L256M|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000579324.1_Missense_Mutation_p.L144M|NUP85_ENST00000541827.1_Missense_Mutation_p.L210M|NUP85_ENST00000579298.1_Missense_Mutation_p.L211M	p.L88M			WXS	Illumina GAIIx	Phase_I	Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		8	686	+	all_lung(278;0.14)|Lung NSC(278;0.168)		256					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	ENST00000245544.4	37	c.262C>A	CCDS32730.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180997	0.38511	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000449421;ENST00000447371	.	.	.	5.4	5.4	0.78164	.	0.070434	0.64402	D	0.000019	T	0.42562	0.1208	L	0.31664	0.95	0.48087	D	0.99958	P;P	0.40000	0.698;0.698	B;B	0.40702	0.338;0.338	T	0.27839	-1.0062	9	0.31617	T	0.26	-13.1633	12.5637	0.56297	0.0:0.9242:0.0:0.0758	.	210;256	B4DMQ3;Q9BW27	.;NUP85_HUMAN	M	256;210;210;88	.	ENSP00000245544:L256M	L	+	1	2	NUP85	70733065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.097000	0.57741	2.551000	0.86045	0.644000	0.83932	CTG		0.562	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844		6	59	1	0	0.0809354	1	0.0837802	6	59				
BRF2	55290	broad.mit.edu	37	8	37704631	37704631	+	Missense_Mutation	SNP	C	C	T	rs142395337		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:37704631C>T	ENST00000220659.6	-	3	397	c.277G>A	c.(277-279)Gcg>Acg	p.A93T	BRF2_ENST00000520601.1_Missense_Mutation_p.A93T|BRF2_ENST00000521170.1_3'UTR	NM_018310.3	NP_060780.2	P47974	TISD_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	0					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			TAGGCAACCGCGGTATCCTCA	0.547																																						ENST00000220659.6																			0				breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12						c.(277-279)Gcg>Acg		BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	135.0	124.0	128.0		277	5.7	1.0	8	dbSNP_134	128	0,8600		0,0,4300	no	missense	BRF2	NM_018310.3	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	93/420	37704631	1,13005	2203	4300	6503	SO:0001583	missense	55290				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding	g.chr8:37704631C>T	AF298153	CCDS6098.1	8p11.23	2013-05-29	2013-05-29		ENSG00000104221	ENSG00000104221			17298	protein-coding gene	gene with protein product		607013	"""BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like"""			11483580, 11564744	Standard	NM_018310		Approved	FLJ11052, BRFU, TFIIIB50	uc003xkk.3	Q9HAW0	OTTHUMG00000164025	ENST00000220659.6:c.277G>A	8.37:g.37704631C>T	ENSP00000220659:p.Ala93Thr		Somatic				BRF2_ENST00000521170.1_3'UTR|BRF2_ENST00000520601.1_Missense_Mutation_p.A93T	p.A93T	NM_018310.3	NP_060780.2	WXS	Illumina GAIIx	Phase_I	Q9HAW0	BRF2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)		3	397	-		Lung NSC(58;0.118)|all_lung(54;0.195)	93					Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000220659.6	37	c.277G>A	CCDS6098.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725708	0.89298	2.27E-4	0.0	ENSG00000104221	ENST00000220659;ENST00000545765;ENST00000520601	.	.	.	5.68	5.68	0.88126	Cyclin-like (3);	0.116455	0.64402	D	0.000012	T	0.76933	0.4057	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	T	0.77222	-0.2667	9	0.62326	D	0.03	.	19.7987	0.96497	0.0:1.0:0.0:0.0	.	93	Q9HAW0	BRF2_HUMAN	T	93;70;93	.	ENSP00000220659:A93T	A	-	1	0	BRF2	37823789	0.992000	0.36948	0.972000	0.41901	0.943000	0.58893	3.042000	0.49815	2.696000	0.92011	0.555000	0.69702	GCG		0.547	BRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376811.2	NM_018310		7	787	0	0	0	1	0	7	787				
CXorf58	254158	broad.mit.edu	37	X	23933821	23933821	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:23933821T>C	ENST00000379211.3	+	4	770	c.221T>C	c.(220-222)tTc>tCc	p.F74S		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	74										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						TTTCAGGAATTCTATGTAACA	0.378																																						ENST00000379211.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						c.(220-222)tTc>tCc		chromosome X open reading frame 58							71.0	58.0	62.0					X																	23933821		2203	4299	6502	SO:0001583	missense	254158							g.chrX:23933821T>C	AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.221T>C	X.37:g.23933821T>C	ENSP00000368511:p.Phe74Ser		Somatic					p.F74S	NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	WXS	Illumina GAIIx	Phase_I	Q96LI9	CX058_HUMAN			4	770	+			74						Missense_Mutation	SNP	ENST00000379211.3	37	c.221T>C	CCDS14209.1	.	.	.	.	.	.	.	.	.	.	t	9.252	1.040960	0.19669	.	.	ENSG00000165182	ENST00000379211	T	0.28255	1.62	5.85	-1.38	0.09027	.	1.673390	0.03232	N	0.179161	T	0.15349	0.0370	N	0.14661	0.345	0.09310	N	1	B;B	0.30973	0.302;0.302	B;B	0.27380	0.079;0.079	T	0.06232	-1.0838	10	0.25106	T	0.35	0.0307	2.1404	0.03774	0.4005:0.1273:0.0749:0.3972	.	74;74	B7ZLS7;Q96LI9	.;CX058_HUMAN	S	74	ENSP00000368511:F74S	ENSP00000368511:F74S	F	+	2	0	CXorf58	23843742	0.000000	0.05858	0.000000	0.03702	0.182000	0.23217	0.054000	0.14205	-0.663000	0.05331	-0.688000	0.03733	TTC		0.378	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056071.1	NM_152761		4	15	0	0	0	1	0	4	15				
TENM1	10178	broad.mit.edu	37	X	124097420	124097420	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:124097420A>T	ENST00000371130.3	-	1	246	c.183T>A	c.(181-183)agT>agA	p.S61R	TENM1_ENST00000422452.2_Missense_Mutation_p.S61R	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	61	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TCCTCTTTCTACTCTGGCTAT	0.368																																						ENST00000422452.2																			0											c.(181-183)agT>agA		teneurin transmembrane protein 1							234.0	219.0	224.0					X																	124097420		2203	4300	6503	SO:0001583	missense	10178							g.chrX:124097420A>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.183T>A	X.37:g.124097420A>T	ENSP00000360171:p.Ser61Arg		Somatic				TENM1_ENST00000371130.3_Missense_Mutation_p.S61R	p.S61R	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1	WXS	Illumina GAIIx	Phase_I					1	246	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.183T>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	A	2.335	-0.352467	0.05173	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.29655	1.56;1.56	5.78	-0.574	0.11738	Teneurin intracellular, N-terminal (2);	0.195940	0.43260	D	0.000592	T	0.19087	0.0458	N	0.22421	0.69	0.32040	N	0.598341	B;B;B	0.31413	0.322;0.322;0.0	B;B;B	0.36608	0.229;0.229;0.001	T	0.32693	-0.9897	10	0.10636	T	0.68	.	12.501	0.55955	0.3:0.0:0.7:0.0	.	61;61;61	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	R	61	ENSP00000360171:S61R;ENSP00000403954:S61R	ENSP00000360171:S61R	S	-	3	2	ODZ1	123925101	1.000000	0.71417	0.856000	0.33681	0.838000	0.47535	1.935000	0.40173	-0.254000	0.09500	-0.438000	0.05819	AGT		0.368	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		6	335	0	0	0	1	0	6	335				
FKBP9	11328	broad.mit.edu	37	7	33020118	33020118	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:33020118G>A	ENST00000242209.4	+	5	1015	c.846G>A	c.(844-846)agG>agA	p.R282R	FKBP9_ENST00000490776.2_Silent_p.R50R|FKBP9_ENST00000538336.1_Silent_p.R335R|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Silent_p.R144R|FKBP9_ENST00000489038.1_3'UTR	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	282	PPIase FKBP-type 3. {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)			ACTTTCTCAGGTATCATTACA	0.413																																						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.(844-846)agG>agA		FK506 binding protein 9, 63 kDa							132.0	123.0	126.0					7																	33020118		2203	4300	6503	SO:0001819	synonymous_variant	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33020118G>A	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.846G>A	7.37:g.33020118G>A			Somatic				FKBP9_ENST00000538443.1_Silent_p.R144R|FKBP9_ENST00000490776.2_Silent_p.R50R|FKBP9_ENST00000489038.1_3'UTR|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Silent_p.R335R	p.R282R	NM_007270.3	NP_009201.2	WXS	Illumina GAIIx	Phase_I	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		5	1015	+			282			PPIase FKBP-type 3.		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Silent	SNP	ENST00000242209.4	37	c.846G>A	CCDS5439.1																																																																																				0.413	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		4	321	0	0	0	1	0	4	321				
TP53BP1	7158	broad.mit.edu	37	15	43748606	43748606	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:43748606G>A	ENST00000263801.3	-	12	2437	c.2185C>T	c.(2185-2187)Caa>Taa	p.Q729*	TP53BP1_ENST00000605155.1_5'Flank|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.Q734*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.Q734*|TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.Q734*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	729					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GCCAACTTTTGAGGGGAATCA	0.408								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(2185-2187)Caa>Taa	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							100.0	102.0	101.0					15																	43748606		2201	4298	6499	SO:0001587	stop_gained	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43748606G>A	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2185C>T	15.37:g.43748606G>A	ENSP00000263801:p.Gln729*		Somatic				TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.Q734*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.Q734*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.Q734*	p.Q729*	NM_005657.2	NP_005648.1	WXS	Illumina GAIIx	Phase_I	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	12	2437	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	729					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Nonsense_Mutation	SNP	ENST00000263801.3	37	c.2185C>T	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	36	5.821680	0.96989	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	.	.	.	5.03	3.03	0.35002	.	0.508972	0.19487	N	0.113091	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	0.1646	9.2853	0.37753	0.0:0.1271:0.6632:0.2097	.	.	.	.	X	729;734;734;734;734	.	ENSP00000263801:Q729X	Q	-	1	0	TP53BP1	41535898	0.002000	0.14202	0.287000	0.24848	0.314000	0.28054	1.122000	0.31295	2.487000	0.83934	0.563000	0.77884	CAA		0.408	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			6	250	0	0	0	1	0	6	250				
NFYC	4802	broad.mit.edu	37	1	41204585	41204585	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:41204585C>A	ENST00000308733.5	+	1	76	c.70C>A	c.(70-72)Cct>Act	p.P24T	NFYC_ENST00000372653.1_Missense_Mutation_p.P24T|NFYC_ENST00000440226.3_Missense_Mutation_p.P24T|NFYC_ENST00000372652.1_Missense_Mutation_p.P24T|NFYC_ENST00000425457.2_Missense_Mutation_p.P24T|NFYC_ENST00000447388.3_Missense_Mutation_p.P24T|NFYC_ENST00000456393.2_Missense_Mutation_p.P24T|NFYC_ENST00000372654.1_Missense_Mutation_p.P24T|NFYC_ENST00000427410.2_Missense_Mutation_p.P24T|NFYC_ENST00000372651.1_Missense_Mutation_p.P24T			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	24					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			GTCGTTCTGGCCTCGGGTCAT	0.408																																						ENST00000372652.1																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15						c.(70-72)Cct>Act		nuclear transcription factor Y, gamma							101.0	103.0	102.0					1																	41204585		2203	4300	6503	SO:0001583	missense	4802				protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:41204585C>A	U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.70C>A	1.37:g.41204585C>A	ENSP00000312617:p.Pro24Thr		Somatic				NFYC_ENST00000447388.3_Missense_Mutation_p.P24T|NFYC_ENST00000427410.2_Missense_Mutation_p.P24T|NFYC_ENST00000372654.1_Missense_Mutation_p.P24T|NFYC_ENST00000425457.2_Missense_Mutation_p.P24T|NFYC_ENST00000372653.1_Missense_Mutation_p.P24T|NFYC_ENST00000372651.1_Missense_Mutation_p.P24T|NFYC_ENST00000456393.2_Missense_Mutation_p.P24T|NFYC_ENST00000308733.5_Missense_Mutation_p.P24T|NFYC_ENST00000440226.3_Missense_Mutation_p.P24T	p.P24T			WXS	Illumina GAIIx	Phase_I	Q13952	NFYC_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)		2	338	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	24					B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Missense_Mutation	SNP	ENST00000308733.5	37	c.70C>A		.	.	.	.	.	.	.	.	.	.	C	22.6	4.310543	0.81358	.	.	ENSG00000066136	ENST00000427410;ENST00000447388;ENST00000425457;ENST00000453631;ENST00000456393;ENST00000372654;ENST00000534399;ENST00000372653;ENST00000372669;ENST00000372652;ENST00000372651;ENST00000531464;ENST00000440226;ENST00000525290;ENST00000530965;ENST00000416859;ENST00000308733	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.44083	0.93;1.5;1.49;1.0;1.5;1.5;1.54;2.52;1.53;1.5;1.5;0.99;1.0;1.48	5.93	5.02	0.67125	Histone-fold (1);	0.000000	0.85682	D	0.000000	T	0.54303	0.1850	L	0.61218	1.895	0.80722	D	1	P;P;D;P;D;P;P;D	0.60575	0.939;0.939;0.976;0.9;0.965;0.939;0.939;0.988	P;P;P;B;P;P;P;P	0.55785	0.535;0.703;0.7;0.262;0.784;0.448;0.448;0.637	T	0.58272	-0.7665	10	0.62326	D	0.03	.	13.1109	0.59273	0.0:0.9228:0.0:0.0772	.	24;24;24;24;24;24;24;24	B4DW63;B4DVS8;Q13952;Q5T6K9;Q13952-3;F8VWM3;Q13952-2;B4DUS6	.;.;NFYC_HUMAN;.;.;.;.;.	T	24	ENSP00000408315:P24T;ENSP00000404427:P24T;ENSP00000396620:P24T;ENSP00000397647:P24T;ENSP00000408867:P24T;ENSP00000361738:P24T;ENSP00000361737:P24T;ENSP00000361754:P24T;ENSP00000361736:P24T;ENSP00000361734:P24T;ENSP00000414299:P24T;ENSP00000436710:P24T;ENSP00000409219:P24T;ENSP00000312617:P24T	ENSP00000312617:P24T	P	+	1	0	NFYC	40977172	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.691000	0.74573	1.528000	0.49103	0.655000	0.94253	CCT		0.408	NFYC-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000020802.1	NM_014223		3	31	1	0	0.115264	1	0.118483	3	31				
IGHV3-16	28447	broad.mit.edu	37	14	106622120	106622120	+	RNA	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:106622120G>A	ENST00000390604.2	-	0	198									immunoglobulin heavy variable 3-16 (non-functional)																		TCCAGAGGCTGCACAGGAGAG	0.587																																						ENST00000390604.2																			0																				112.0	104.0	107.0					14																	106622120		1846	4083	5929			28447							g.chr14:106622120G>A	M99655		14q32.33	2012-02-08	2008-08-22		ENSG00000211944	ENSG00000211944		"""Immunoglobulins / IGH locus"""	5583	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-16"""				Standard	NG_001019		Approved				OTTHUMG00000152273		14.37:g.106622120G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	198	-									RNA	SNP	ENST00000390604.2	37																																																																																						0.587	IGHV3-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325661.1	NG_001019		5	355	0	0	0	1	0	5	355				
DDX31	64794	broad.mit.edu	37	9	135522302	135522302	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:135522302C>A	ENST00000372159.3	-	12	1577	c.1426G>T	c.(1426-1428)Gca>Tca	p.A476S	DDX31_ENST00000372153.1_Missense_Mutation_p.A476S|DDX31_ENST00000310532.2_Missense_Mutation_p.A476S|DDX31_ENST00000438527.3_Missense_Mutation_p.A347S	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	476						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TCTGGTATTGCAAAGCTGTCC	0.532																																						ENST00000372159.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(1426-1428)Gca>Tca		DEAD (Asp-Glu-Ala-Asp) box polypeptide 31							123.0	108.0	113.0					9																	135522302		2203	4300	6503	SO:0001583	missense	64794					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr9:135522302C>A	AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"""DEAD-boxes"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16715	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 25"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"""				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.1426G>T	9.37:g.135522302C>A	ENSP00000361232:p.Ala476Ser		Somatic				DDX31_ENST00000438527.3_Missense_Mutation_p.A347S|DDX31_ENST00000372153.1_Missense_Mutation_p.A476S|DDX31_ENST00000310532.2_Missense_Mutation_p.A476S	p.A476S	NM_022779.7	NP_073616.6	WXS	Illumina GAIIx	Phase_I	Q9H8H2	DDX31_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)	12	1577	-			476					Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	37	c.1426G>T	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.358564	0.41801	.	.	ENSG00000125485	ENST00000372159;ENST00000372155;ENST00000372153;ENST00000438527;ENST00000310532	T;T;T;T	0.04603	4.42;3.99;4.37;3.59	5.46	5.46	0.80206	.	0.200116	0.52532	D	0.000076	T	0.06645	0.0170	L	0.42581	1.335	0.80722	D	1	P;P	0.39352	0.669;0.539	B;B	0.40534	0.332;0.135	T	0.38607	-0.9653	10	0.07990	T	0.79	-18.2621	18.288	0.90120	0.0:1.0:0.0:0.0	.	476;476	Q9H8H2-2;Q9H8H2	.;DDX31_HUMAN	S	476;476;476;347;476	ENSP00000361232:A476S;ENSP00000361226:A476S;ENSP00000387730:A347S;ENSP00000310539:A476S	ENSP00000310539:A476S	A	-	1	0	DDX31	134512123	1.000000	0.71417	0.744000	0.31058	0.157000	0.22087	5.249000	0.65427	2.549000	0.85964	0.655000	0.94253	GCA		0.532	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620		5	94	1	0	0.000602214	1	0.000662999	5	94				
PLXND1	23129	broad.mit.edu	37	3	129275241	129275241	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:129275241C>T	ENST00000324093.4	-	36	5870	c.5692G>A	c.(5692-5694)Gcc>Acc	p.A1898T	PLXND1_ENST00000393239.1_3'UTR|PLXND1_ENST00000504689.1_Intron	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1898					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GTCCTCCGGGCCGTGGGGTTG	0.612																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000324093.4																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(5692-5694)Gcc>Acc		plexin D1							140.0	134.0	136.0					3																	129275241		2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129275241C>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.5692G>A	3.37:g.129275241C>T	ENSP00000317128:p.Ala1898Thr		Somatic				PLXND1_ENST00000504689.1_Intron|PLXND1_ENST00000393239.1_3'UTR	p.A1898T	NM_015103.2	NP_055918.2	WXS	Illumina GAIIx	Phase_I	Q9Y4D7	PLXD1_HUMAN			36	5870	-			1898					A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.5692G>A	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165179	0.57476	.	.	ENSG00000004399	ENST00000324093	T	0.36520	1.25	4.72	3.7	0.42460	.	0.119969	0.56097	D	0.000034	T	0.19805	0.0476	N	0.21617	0.685	0.80722	D	1	B;B	0.09022	0.0;0.002	B;B	0.06405	0.0;0.002	T	0.13710	-1.0499	10	0.41790	T	0.15	.	3.1382	0.06446	0.0:0.5598:0.0:0.4402	.	494;1898	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	T	1898	ENSP00000317128:A1898T	ENSP00000317128:A1898T	A	-	1	0	PLXND1	130757931	1.000000	0.71417	0.935000	0.37517	0.995000	0.86356	4.026000	0.57232	2.158000	0.67659	0.462000	0.41574	GCC		0.612	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		5	64	0	0	0	1	0	5	64				
FTCD	10841	broad.mit.edu	37	21	47570047	47570047	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr21:47570047G>T	ENST00000291670.5	-	7	935	c.892C>A	c.(892-894)Cag>Aag	p.Q298K	FTCD_ENST00000498355.2_5'UTR|FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000397743.1_Missense_Mutation_p.Q298K|FTCD_ENST00000397748.1_Missense_Mutation_p.Q298K|FTCD_ENST00000355384.2_Missense_Mutation_p.Q298K|FTCD_ENST00000397746.3_Missense_Mutation_p.Q298K|FTCD_ENST00000359679.2_Missense_Mutation_p.Q298K	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	298	Formiminotransferase C-subdomain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	CTGATCCGCTGCTCCTCCTCC	0.697																																						ENST00000397748.1																			0				endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19						c.(892-894)Cag>Aag		formimidoyltransferase cyclodeaminase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						16.0	16.0	16.0					21																	47570047		2199	4294	6493	SO:0001583	missense	10841				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity	g.chr21:47570047G>T	U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"""formiminotransferase cyclodeaminase"""			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.892C>A	21.37:g.47570047G>T	ENSP00000291670:p.Gln298Lys		Somatic				FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000359679.2_Missense_Mutation_p.Q298K|FTCD_ENST00000291670.5_Missense_Mutation_p.Q298K|FTCD_ENST00000397746.3_Missense_Mutation_p.Q298K|FTCD_ENST00000397743.1_Missense_Mutation_p.Q298K|FTCD_ENST00000355384.2_Missense_Mutation_p.Q298K	p.Q298K			WXS	Illumina GAIIx	Phase_I	O95954	FTCD_HUMAN		Colorectal(79;0.235)	7	935	-	Breast(49;0.214)		298			Formiminotransferase C-subdomain (By similarity).		B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Missense_Mutation	SNP	ENST00000291670.5	37	c.892C>A	CCDS13731.1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.071225	0.36566	.	.	ENSG00000160282	ENST00000291670;ENST00000397748;ENST00000359679;ENST00000355384;ENST00000397746;ENST00000397743	T;T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87;-0.87	4.54	4.54	0.55810	Formiminotransferas, N- and C-terminal subdomains (1);Formiminotransferase, C-terminal subdomain (2);Formiminotransferase catalytic domain (1);	0.219434	0.46145	D	0.000302	T	0.70762	0.3261	M	0.66939	2.045	0.26753	N	0.970151	P;B;P	0.41080	0.737;0.218;0.459	B;B;B	0.37731	0.257;0.117;0.174	T	0.64922	-0.6293	10	0.13470	T	0.59	.	17.3273	0.87252	0.0:0.0:1.0:0.0	.	298;298;298	B7WPK3;O95954-2;O95954	.;.;FTCD_HUMAN	K	298	ENSP00000291670:Q298K;ENSP00000380856:Q298K;ENSP00000352707:Q298K;ENSP00000347545:Q298K;ENSP00000380854:Q298K;ENSP00000380851:Q298K	ENSP00000291670:Q298K	Q	-	1	0	FTCD	46394475	1.000000	0.71417	0.970000	0.41538	0.325000	0.28411	6.286000	0.72665	2.060000	0.61445	0.650000	0.86243	CAG		0.697	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206962.1	NM_006657		6	12	1	0	0.00116845	1	0.00127921	6	12				
ZNF57	126295	broad.mit.edu	37	19	2917734	2917734	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:2917734C>G	ENST00000306908.5	+	4	1263	c.1115C>G	c.(1114-1116)gCc>gGc	p.A372G	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.A340G	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	372					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGGGAAAGCCTTCACTTGG	0.443																																					NSCLC(150;910 1964 4303 10464 26498)	ENST00000306908.5																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1114-1116)gCc>gGc		zinc finger protein 57							89.0	80.0	83.0					19																	2917734		2203	4300	6503	SO:0001583	missense	126295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2917734C>G	M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"""Zinc fingers, C2H2-type"", ""-"""	13125	protein-coding gene	gene with protein product			"""zinc finger protein 424"""	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.1115C>G	19.37:g.2917734C>G	ENSP00000303696:p.Ala372Gly		Somatic				ZNF57_ENST00000523428.1_Missense_Mutation_p.A340G|AC006277.2_ENST00000520090.2_RNA	p.A372G	NM_173480.2	NP_775751.1	WXS	Illumina GAIIx	Phase_I	Q68EA5	ZNF57_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1263	+			372					Q8N6R9	Missense_Mutation	SNP	ENST00000306908.5	37	c.1115C>G	CCDS12098.1	.	.	.	.	.	.	.	.	.	.	C	7.440	0.640412	0.14386	.	.	ENSG00000171970	ENST00000306908;ENST00000395204;ENST00000523428	T;T	0.13901	2.55;2.55	2.15	1.07	0.20283	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12220	0.0297	L	0.55017	1.72	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.31779	-0.9931	9	0.72032	D	0.01	.	3.3774	0.07242	0.0:0.5523:0.2741:0.1737	.	372	Q68EA5	ZNF57_HUMAN	G	372;374;340	ENSP00000303696:A372G;ENSP00000430223:A340G	ENSP00000303696:A372G	A	+	2	0	ZNF57	2868734	0.000000	0.05858	0.008000	0.14137	0.002000	0.02628	-0.037000	0.12164	0.232000	0.21100	0.511000	0.50034	GCC		0.443	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1	NM_173480		48	139	0	0	0	1	0	48	139				
KLHL6	89857	broad.mit.edu	37	3	183209922	183209922	+	Silent	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:183209922G>T	ENST00000341319.3	-	7	1694	c.1659C>A	c.(1657-1659)atC>atA	p.I553I		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	553					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TGCAGGGCGCGATACCGCAGC	0.662																																						ENST00000341319.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1657-1659)atC>atA		kelch-like family member 6							53.0	52.0	53.0					3																	183209922		2202	4299	6501	SO:0001819	synonymous_variant	89857							g.chr3:183209922G>T	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1659C>A	3.37:g.183209922G>T			Somatic					p.I553I	NM_130446.2	NP_569713.2	WXS	Illumina GAIIx	Phase_I	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		7	1694	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		553					B2RB31|D3DNS8|Q8N5I1|Q8N892	Silent	SNP	ENST00000341319.3	37	c.1659C>A	CCDS3245.2																																																																																				0.662	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		12	110	1	0	2.12542e-12	1	2.70382e-12	12	110				
DYNC1H1	1778	broad.mit.edu	37	14	102496024	102496024	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:102496024G>T	ENST00000360184.4	+	49	9781	c.9617G>T	c.(9616-9618)aGg>aTg	p.R3206M		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3206	Stalk. {ECO:0000250}.				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						GTGGGGCTCAGGAAGATCAAA	0.532																																						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.(9616-9618)aGg>aTg		dynein, cytoplasmic 1, heavy chain 1							92.0	82.0	85.0					14																	102496024		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102496024G>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.9617G>T	14.37:g.102496024G>T	ENSP00000348965:p.Arg3206Met		Somatic					p.R3206M	NM_001376.4	NP_001367.2	WXS	Illumina GAIIx	Phase_I	Q14204	DYHC1_HUMAN			49	9781	+			3206			Stalk (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.9617G>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700554	0.68501	.	.	ENSG00000197102	ENST00000360184	T	0.73258	-0.73	5.54	5.54	0.83059	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	T	0.71108	0.3301	L	0.29908	0.895	0.33970	D	0.646671	P	0.49253	0.921	P	0.51229	0.663	T	0.77490	-0.2568	10	0.46703	T	0.11	.	19.4734	0.94973	0.0:0.0:1.0:0.0	.	3206	Q14204	DYHC1_HUMAN	M	3206	ENSP00000348965:R3206M	ENSP00000348965:R3206M	R	+	2	0	DYNC1H1	101565777	1.000000	0.71417	0.089000	0.20774	0.975000	0.68041	9.807000	0.99171	2.606000	0.88127	0.585000	0.79938	AGG		0.532	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		95	315	1	0	1.44766e-59	1	1.97836e-59	95	315				
CEP104	9731	broad.mit.edu	37	1	3756191	3756191	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:3756191G>A	ENST00000378230.3	-	7	1040	c.716C>T	c.(715-717)gCc>gTc	p.A239V	CEP104_ENST00000460038.1_5'Flank	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	239						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						ATCAGCAATGGCTTGTTTTAG	0.353																																						ENST00000378230.3																			0				breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						c.(715-717)gCc>gTc		centrosomal protein 104kDa							172.0	168.0	169.0					1																	3756191		2203	4300	6503	SO:0001583	missense	9731					centriole	binding	g.chr1:3756191G>A	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.716C>T	1.37:g.3756191G>A	ENSP00000367476:p.Ala239Val		Somatic					p.A239V	NM_014704.3	NP_055519.1	WXS	Illumina GAIIx	Phase_I	O60308	CE104_HUMAN			7	1040	-			239					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	c.716C>T	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852400	0.91355	.	.	ENSG00000116198	ENST00000378230;ENST00000428079	T	0.37235	1.21	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.59252	0.2180	M	0.68593	2.085	0.80722	D	1	D;D	0.71674	0.998;0.972	D;P	0.72338	0.977;0.87	T	0.62402	-0.6862	10	0.62326	D	0.03	.	17.4113	0.87486	0.0:0.0:1.0:0.0	.	239;239	O60308-3;O60308	.;CE104_HUMAN	V	239;181	ENSP00000367476:A239V	ENSP00000367476:A239V	A	-	2	0	CEP104	3746051	1.000000	0.71417	0.859000	0.33776	0.956000	0.61745	9.259000	0.95561	2.346000	0.79739	0.561000	0.74099	GCC		0.353	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		5	222	0	0	0	1	0	5	222				
BRDT	676	broad.mit.edu	37	1	92446676	92446676	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:92446676T>A	ENST00000362005.3	+	11	2109	c.1691T>A	c.(1690-1692)cTa>cAa	p.L564Q	BRDT_ENST00000394530.3_Missense_Mutation_p.L518Q|BRDT_ENST00000370389.2_Missense_Mutation_p.L491Q|BRDT_ENST00000399546.2_Missense_Mutation_p.L564Q|BRDT_ENST00000402388.1_Missense_Mutation_p.L564Q	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	564	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GCATCAACACTAAGAGAATTA	0.358																																						ENST00000370389.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(1471-1473)cTa>cAa		bromodomain, testis-specific							72.0	76.0	74.0					1																	92446676		2203	4299	6502	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92446676T>A	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1691T>A	1.37:g.92446676T>A	ENSP00000354568:p.Leu564Gln		Somatic				BRDT_ENST00000394530.3_Missense_Mutation_p.L518Q|BRDT_ENST00000399546.2_Missense_Mutation_p.L564Q|BRDT_ENST00000362005.3_Missense_Mutation_p.L564Q|BRDT_ENST00000402388.1_Missense_Mutation_p.L564Q	p.L491Q	NM_001242810.1	NP_001229739.1	WXS	Illumina GAIIx	Phase_I	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	10	2396	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	564					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.1472T>A	CCDS735.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.591832	0.86953	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000394530;ENST00000402388	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.67	5.67	0.87782	.	0.000000	0.45126	D	0.000393	T	0.59715	0.2214	M	0.92604	3.325	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.996;0.999	T	0.71368	-0.4614	10	0.87932	D	0	-13.2105	16.2076	0.82138	0.0:0.0:0.0:1.0	.	518;518;568;564	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	Q	564;491;564;518;564	ENSP00000354568:L564Q;ENSP00000359416:L491Q;ENSP00000387822:L564Q;ENSP00000378038:L518Q;ENSP00000384051:L564Q	ENSP00000354568:L564Q	L	+	2	0	BRDT	92219264	0.987000	0.35691	0.987000	0.45799	0.988000	0.76386	7.862000	0.87013	2.285000	0.76669	0.477000	0.44152	CTA		0.358	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		4	70	0	0	0	1	0	4	70				
FAM228A	653140	broad.mit.edu	37	2	24406229	24406229	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:24406229C>T	ENST00000295150.3	+	4	324	c.238C>T	c.(238-240)Cag>Tag	p.Q80*	RP11-507M3.1_ENST00000584973.1_3'UTR	NM_001040710.1	NP_001035800.1	Q86W67	F228A_HUMAN	family with sequence similarity 228, member A	80																	AACTGGTCTTCAGTGTGAGAC	0.438																																						ENST00000295150.3																			0											c.(238-240)Cag>Tag		family with sequence similarity 228, member A							179.0	168.0	171.0					2																	24406229		1940	4137	6077	SO:0001587	stop_gained	653140							g.chr2:24406229C>T		CCDS42659.1	2p23.3	2012-07-04	2012-07-04	2012-07-04	ENSG00000186453	ENSG00000186453			34418	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 84"""	C2orf84			Standard	NM_001040710		Approved	FLJ30851	uc002rfc.3	Q86W67	OTTHUMG00000151903	ENST00000295150.3:c.238C>T	2.37:g.24406229C>T	ENSP00000295150:p.Gln80*		Somatic				RP11-507M3.1_ENST00000584973.1_3'UTR	p.Q80*	NM_001040710.1	NP_001035800.1	WXS	Illumina GAIIx	Phase_I					4	324	+									Nonsense_Mutation	SNP	ENST00000295150.3	37	c.238C>T	CCDS42659.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514100	0.64522	.	.	ENSG00000186453	ENST00000295150	.	.	.	4.71	2.86	0.33363	.	0.553838	0.17825	N	0.160737	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-0.0882	7.2916	0.26370	0.0:0.7339:0.1702:0.096	.	.	.	.	X	80	.	ENSP00000295150:Q80X	Q	+	1	0	C2orf84	24259733	0.001000	0.12720	0.000000	0.03702	0.057000	0.15508	0.875000	0.28079	0.640000	0.30582	0.563000	0.77884	CAG		0.438	FAM228A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324342.1	NM_001040710		6	81	0	0	0	1	0	6	81				
DDX60	55601	broad.mit.edu	37	4	169212948	169212948	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:169212948C>A	ENST00000393743.3	-	8	1283	c.992G>T	c.(991-993)aGa>aTa	p.R331I		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	331					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AGTGATGACTCTAGCACAAGC	0.373																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(991-993)aGa>aTa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							94.0	94.0	94.0					4																	169212948		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169212948C>A	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.992G>T	4.37:g.169212948C>A	ENSP00000377344:p.Arg331Ile		Somatic					p.R331I	NM_017631.5	NP_060101.3	WXS	Illumina GAIIx	Phase_I	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	8	1283	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	331					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.992G>T	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368623	0.42003	.	.	ENSG00000137628	ENST00000393743	T	0.34667	1.35	4.79	4.79	0.61399	.	0.000000	0.64402	D	0.000009	T	0.61590	0.2359	M	0.77103	2.36	0.34633	D	0.719858	D	0.89917	1.0	D	0.91635	0.999	T	0.74234	-0.3731	10	0.72032	D	0.01	.	15.7864	0.78306	0.0:1.0:0.0:0.0	.	331	Q8IY21	DDX60_HUMAN	I	331	ENSP00000377344:R331I	ENSP00000377344:R331I	R	-	2	0	DDX60	169449523	0.933000	0.31639	0.169000	0.22859	0.015000	0.08874	3.850000	0.55918	2.510000	0.84645	0.563000	0.77884	AGA		0.373	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		11	123	1	0	0.000219431	1	0.000245713	11	123				
HPS3	84343	broad.mit.edu	37	3	148872892	148872892	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:148872892A>T	ENST00000296051.2	+	8	1540		c.e8-1		HPS3_ENST00000460120.1_Splice_Site	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3						organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTTTGCTTTTAGTTCGAGAAA	0.303									Hermansky-Pudlak syndrome																													ENST00000296051.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34						c.e8-1		Hermansky-Pudlak syndrome 3							89.0	94.0	92.0					3																	148872892		2203	4300	6503	SO:0001630	splice_region_variant	84343	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148872892A>T	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1401-1A>T	3.37:g.148872892A>T			Somatic				HPS3_ENST00000460120.1_Splice_Site		NM_032383.3	NP_115759.2	WXS	Illumina GAIIx	Phase_I	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		8	1540	+								A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Splice_Site	SNP	ENST00000296051.2	37		CCDS3140.1	.	.	.	.	.	.	.	.	.	.	A	19.07	3.755131	0.69648	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1558	0.59516	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HPS3	150355582	1.000000	0.71417	0.990000	0.47175	0.985000	0.73830	3.727000	0.54984	2.092000	0.63282	0.533000	0.62120	.		0.303	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383	Intron	5	83	0	0	0	1	0	5	83				
KBTBD7	84078	broad.mit.edu	37	13	41767222	41767222	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr13:41767222G>A	ENST00000379483.3	-	1	1480	c.1172C>T	c.(1171-1173)cCa>cTa	p.P391L		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	391										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GTCATGGTCTGGGGACACACA	0.507																																						ENST00000379483.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1171-1173)cCa>cTa		kelch repeat and BTB (POZ) domain containing 7							92.0	84.0	87.0					13																	41767222		2203	4300	6503	SO:0001583	missense	84078						protein binding	g.chr13:41767222G>A	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1172C>T	13.37:g.41767222G>A	ENSP00000368797:p.Pro391Leu		Somatic					p.P391L	NM_032138.4	NP_115514.2	WXS	Illumina GAIIx	Phase_I	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	1480	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	391					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.1172C>T	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306620	0.40795	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.61980	0.06	4.9	4.9	0.64082	Kelch-type beta propeller (1);	0.000000	0.85682	U	0.000000	T	0.76198	0.3954	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76817	-0.2819	10	0.46703	T	0.11	.	15.5897	0.76517	0.0:0.0:1.0:0.0	.	391	Q8WVZ9	KBTB7_HUMAN	L	391;293	ENSP00000368797:P391L	ENSP00000368797:P391L	P	-	2	0	KBTBD7	40665222	1.000000	0.71417	1.000000	0.80357	0.260000	0.26232	6.389000	0.73199	2.246000	0.74042	0.557000	0.71058	CCA		0.507	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		29	52	0	0	0	1	0	29	52				
CARS2	79587	broad.mit.edu	37	13	111340073	111340073	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr13:111340073G>A	ENST00000257347.4	-	5	629	c.566C>T	c.(565-567)gCa>gTa	p.A189V	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	189				RGNAYSTAKGNVYFDLKSRGD -> SWERLFNGKRQCLLRS ESLEET (in Ref. 4; BAB93499). {ECO:0000305}.	cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	CCTACCTTTTGCCGTTGAATA	0.408																																						ENST00000257347.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13						c.(565-567)gCa>gTa		cysteinyl-tRNA synthetase 2, mitochondrial (putative)	L-Cysteine(DB00151)						156.0	167.0	163.0					13																	111340073		2203	4300	6503	SO:0001583	missense	79587				cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding	g.chr13:111340073G>A	BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	25695	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 2, mitochondrial (putative)"""	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.566C>T	13.37:g.111340073G>A	ENSP00000257347:p.Ala189Val		Somatic				CARS2_ENST00000535398.1_5'UTR	p.A189V	NM_024537.2	NP_078813.1	WXS	Illumina GAIIx	Phase_I	Q9HA77	SYCM_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.163)		5	629	-	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		189	RGNAYSTAKGNVYFDLKSRGD -> SWERLFNGKRQCLLRS ESLEET (in Ref. 4; BAB93499).				Q8NI84|Q96IV4	Missense_Mutation	SNP	ENST00000257347.4	37	c.566C>T	CCDS9514.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.794041	0.50102	.	.	ENSG00000134905	ENST00000257347;ENST00000542709	T	0.33216	1.42	4.47	0.387	0.16259	Rossmann-like alpha/beta/alpha sandwich fold (1);	1.097250	0.06908	N	0.807174	T	0.24812	0.0602	L	0.31926	0.97	0.09310	N	1	B	0.25235	0.121	B	0.32022	0.139	T	0.40365	-0.9567	10	0.48119	T	0.1	.	5.6433	0.17577	0.1658:0.0:0.5574:0.2767	.	189	Q9HA77	SYCM_HUMAN	V	189;180	ENSP00000257347:A189V	ENSP00000257347:A189V	A	-	2	0	CARS2	110138074	0.000000	0.05858	0.000000	0.03702	0.139000	0.21198	-0.476000	0.06591	0.423000	0.26033	0.557000	0.71058	GCA		0.408	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3	NM_024537		11	1947	0	0	0	1	0	11	1947				
CD72	971	broad.mit.edu	37	9	35615939	35615939	+	Splice_Site	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:35615939C>A	ENST00000396757.1	-	6	853		c.e6+1		CD72_ENST00000259633.4_Splice_Site|CD72_ENST00000490239.1_Splice_Site			P21854	CD72_HUMAN	CD72 molecule						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGAGCGGATACCTGCTGAGCC	0.557																																						ENST00000396757.1																			0				large_intestine(5)|liver(1)|lung(6)	12						c.e6+1		CD72 molecule							113.0	98.0	103.0					9																	35615939		2203	4300	6503	SO:0001630	splice_region_variant	971				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity	g.chr9:35615939C>A		CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"""CD molecules"""	1696	protein-coding gene	gene with protein product		107272	"""CD72 antigen"""			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.688+1G>T	9.37:g.35615939C>A			Somatic				CD72_ENST00000490239.1_Splice_Site|CD72_ENST00000259633.4_Splice_Site				WXS	Illumina GAIIx	Phase_I	P21854	CD72_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		6	853	-									Splice_Site	SNP	ENST00000396757.1	37		CCDS6581.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712879	0.48517	.	.	ENSG00000137101	ENST00000396757;ENST00000396759;ENST00000259633	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0221	0.71637	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CD72	35605939	0.998000	0.40836	0.988000	0.46212	0.038000	0.13279	4.236000	0.58675	2.408000	0.81797	0.491000	0.48974	.		0.557	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052336.1	NM_001782	Intron	13	484	1	0	0.0545645	1	0.0566817	13	484				
LPL	4023	broad.mit.edu	37	8	19809320	19809320	+	Missense_Mutation	SNP	C	C	T	rs201946950		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:19809320C>T	ENST00000311322.8	+	3	760	c.290C>T	c.(289-291)gCc>gTc	p.A97V	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	97					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	AAACTTGTGGCCGCCCTGTAC	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		16494	0.0		0.0	False		,,,				2504	0.001					ENST00000311322.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36	GRCh37	CX962381	LPL	X		c.(289-291)gCc>gTc		lipoprotein lipase	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)						229.0	215.0	220.0					8																	19809320		2203	4300	6503	SO:0001583	missense	4023				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	g.chr8:19809320C>T		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.290C>T	8.37:g.19809320C>T	ENSP00000309757:p.Ala97Val		Somatic				LPL_ENST00000521994.1_3'UTR	p.A97V	NM_000237.2	NP_000228.1	WXS	Illumina GAIIx	Phase_I	P06858	LIPL_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	3	760	+			97					B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	ENST00000311322.8	37	c.290C>T	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415344	0.62511	.	.	ENSG00000175445	ENST00000520959;ENST00000524029;ENST00000522701;ENST00000311322;ENST00000538071;ENST00000535763	D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84	5.76	3.9	0.45041	Lipase, N-terminal (1);	0.405038	0.29444	N	0.012138	D	0.89012	0.6594	M	0.63428	1.95	0.25706	N	0.98554	B	0.29341	0.242	B	0.39935	0.314	D	0.87707	0.2564	8	.	.	.	-11.2206	7.601	0.28075	0.2798:0.558:0.1622:0.0	.	97	P06858	LIPL_HUMAN	V	21;97;97;97;21;83	ENSP00000428496:A21V;ENSP00000428237:A97V;ENSP00000428557:A97V;ENSP00000309757:A97V	.	A	+	2	0	LPL	19853600	0.923000	0.31300	0.977000	0.42913	0.969000	0.65631	1.926000	0.40084	2.725000	0.93324	0.460000	0.39030	GCC		0.493	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			7	603	0	0	0	1	0	7	603				
PDXK	8566	broad.mit.edu	37	21	45165995	45165995	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr21:45165995G>A	ENST00000291565.4	+	5	550	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	PDXK_ENST00000468090.1_Missense_Mutation_p.E95K|PDXK_ENST00000467908.1_Missense_Mutation_p.E83K	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	123					cell proliferation (GO:0008283)|pyridoxal 5'-phosphate salvage (GO:0009443)|pyridoxal phosphate biosynthetic process (GO:0042823)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|protein homodimerization activity (GO:0042803)|pyridoxal kinase activity (GO:0008478)|pyridoxal phosphate binding (GO:0030170)|sodium ion binding (GO:0031402)|zinc ion binding (GO:0008270)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	GTGGGACGGCGAAGGCTCGAT	0.502																																						ENST00000291565.4																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(367-369)Gaa>Aaa		pyridoxal (pyridoxine, vitamin B6) kinase	Pyridoxal(DB00147)|Pyridoxine(DB00165)						302.0	236.0	258.0					21																	45165995		2203	4300	6503	SO:0001583	missense	8566				cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding	g.chr21:45165995G>A	U89606	CCDS13699.1	21q22.3	2007-05-10			ENSG00000160209	ENSG00000160209	2.7.1.35		8819	protein-coding gene	gene with protein product		179020	"""chromosome 21 open reading frame 97"", ""chromosome 21 open reading frame 124"""	C21orf97, C21orf124		9099727	Standard	NM_003681		Approved	PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873	uc002zdm.4	O00764	OTTHUMG00000086870	ENST00000291565.4:c.367G>A	21.37:g.45165995G>A	ENSP00000291565:p.Glu123Lys		Somatic				PDXK_ENST00000468090.1_Missense_Mutation_p.E95K|PDXK_ENST00000467908.1_Missense_Mutation_p.E83K	p.E123K	NM_003681.4	NP_003672.1	WXS	Illumina GAIIx	Phase_I	O00764	PDXK_HUMAN		Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	5	550	+			123					Q7Z2Y0|Q9BS02	Missense_Mutation	SNP	ENST00000291565.4	37	c.367G>A	CCDS13699.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542949	0.45280	.	.	ENSG00000160209	ENST00000468090;ENST00000291565;ENST00000463355;ENST00000467908	T;T;T	0.75938	-0.98;-0.98;-0.98	4.36	4.36	0.52297	Carbohydrate/purine kinase (1);	0.000000	0.64402	D	0.000010	T	0.63212	0.2492	N	0.22421	0.69	0.50171	D	0.999857	B;B;B	0.23442	0.007;0.085;0.014	B;B;B	0.20577	0.008;0.03;0.01	T	0.62872	-0.6762	10	0.51188	T	0.08	-22.6314	16.5078	0.84277	0.0:0.0:1.0:0.0	.	123;95;123	F2Z3F8;O00764-2;O00764	.;.;PDXK_HUMAN	K	95;123;123;83	ENSP00000418359:E95K;ENSP00000291565:E123K;ENSP00000420708:E83K	ENSP00000291565:E123K	E	+	1	0	PDXK	43990423	1.000000	0.71417	0.404000	0.26397	0.057000	0.15508	5.218000	0.65257	1.950000	0.56595	0.551000	0.68910	GAA		0.502	PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195636.1	NM_003681		12	285	0	0	0	1	0	12	285				
ZNF132	7691	broad.mit.edu	37	19	58945900	58945900	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:58945900G>T	ENST00000254166.3	-	3	1311	c.911C>A	c.(910-912)tCt>tAt	p.S304Y		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	304					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)			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CCTCAGCTTAGATGAGTGACT	0.388																																						ENST00000254166.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(910-912)tCt>tAt		zinc finger protein 132							75.0	79.0	78.0					19																	58945900		2203	4300	6503	SO:0001583	missense	7691					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58945900G>T	U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"""Zinc fingers, C2H2-type"", ""-"""	12916	protein-coding gene	gene with protein product		604074	"""zinc finger protein 132 (clone pHZ-12)"""			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.911C>A	19.37:g.58945900G>T	ENSP00000254166:p.Ser304Tyr		Somatic					p.S304Y	NM_003433.3	NP_003424.3	WXS	Illumina GAIIx	Phase_I	P52740	ZN132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)	3	1311	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	304					Q32MI9	Missense_Mutation	SNP	ENST00000254166.3	37	c.911C>A	CCDS12980.1	.	.	.	.	.	.	.	.	.	.	G	1.697	-0.502588	0.04261	.	.	ENSG00000131849	ENST00000254166;ENST00000391695	T	0.18502	2.21	3.57	-0.779	0.10973	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15132	0.0365	L	0.61218	1.895	0.09310	N	1	B	0.15141	0.012	B	0.12156	0.007	T	0.31558	-0.9939	9	0.46703	T	0.11	.	3.3805	0.07252	0.289:0.0:0.5245:0.1865	.	304	P52740	ZN132_HUMAN	Y	304;215	ENSP00000254166:S304Y	ENSP00000254166:S304Y	S	-	2	0	ZNF132	63637712	0.000000	0.05858	0.000000	0.03702	0.262000	0.26303	-0.120000	0.10660	-0.160000	0.11002	0.655000	0.94253	TCT		0.388	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	NM_003433		6	57	1	0	0.0293803	1	0.0306284	6	57				
RAF1	5894	broad.mit.edu	37	3	12632448	12632448	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:12632448G>C	ENST00000251849.4	-	12	1658	c.1219C>G	c.(1219-1221)Ctt>Gtt	p.L407V	RAF1_ENST00000442415.2_Missense_Mutation_p.L427V|RAF1_ENST00000542177.1_Missense_Mutation_p.L326V|RAF1_ENST00000534997.1_Missense_Mutation_p.L192V	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	407	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCCATGAAAAGCAGAATGTTC	0.547			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																													ENST00000251849.4				Dom	yes		3	3p25	5894	T	v-raf-1 murine leukemia viral oncogene homolog 1			M	SRGAP3		pilocytic astrocytoma	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32						c.(1219-1221)Ctt>Gtt		v-raf-1 murine leukemia viral oncogene homolog 1	Sorafenib(DB00398)						119.0	113.0	115.0					3																	12632448		2203	4300	6503	SO:0001583	missense	5894	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr3:12632448G>C	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"""C-Raf proto-oncogene, serine/threonine kinase"""	164760	"""v-raf-1 murine leukemia viral oncogene homolog 1"""			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.1219C>G	3.37:g.12632448G>C	ENSP00000251849:p.Leu407Val		Somatic				RAF1_ENST00000542177.1_Missense_Mutation_p.L326V|RAF1_ENST00000534997.1_Missense_Mutation_p.L192V|RAF1_ENST00000442415.2_Missense_Mutation_p.L427V	p.L407V	NM_002880.3	NP_002871.1	WXS	Illumina GAIIx	Phase_I	P04049	RAF1_HUMAN			12	1658	-			407			Protein kinase.		B0LPH8|B2R5N3|Q15278|Q9UC20	Missense_Mutation	SNP	ENST00000251849.4	37	c.1219C>G	CCDS2612.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771702	0.69992	.	.	ENSG00000132155	ENST00000251849;ENST00000442415;ENST00000432427;ENST00000534997;ENST00000542177	D;D;D;D;D	0.98914	-5.23;-5.23;-5.23;-5.23;-5.23	4.75	3.87	0.44632	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98912	0.9631	M	0.77616	2.38	0.58432	D	0.999997	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.97110	0.998;0.994;1.0	D	0.98570	1.0645	10	0.87932	D	0	.	13.8445	0.63459	0.0781:0.0:0.9219:0.0	.	326;192;407	B4E0X2;B4E1N6;P04049	.;.;RAF1_HUMAN	V	407;427;286;192;326	ENSP00000251849:L407V;ENSP00000401888:L427V;ENSP00000398591:L286V;ENSP00000441186:L192V;ENSP00000443567:L326V	ENSP00000251849:L407V	L	-	1	0	RAF1	12607448	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.755000	0.47540	2.617000	0.88574	0.563000	0.77884	CTT		0.547	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880		8	759	0	0	0	1	0	8	759				
YLPM1	56252	broad.mit.edu	37	14	75264606	75264606	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:75264606C>A	ENST00000325680.7	+	5	2730	c.2606C>A	c.(2605-2607)aCc>aAc	p.T869N	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.T674N	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	674	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TTAGCAGACACCAGTAGTAAC	0.443																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(2605-2607)aCc>aAc		YLP motif containing 1							88.0	86.0	87.0					14																	75264606		1937	4129	6066	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75264606C>A	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.2606C>A	14.37:g.75264606C>A	ENSP00000324463:p.Thr869Asn		Somatic				YLPM1_ENST00000238571.3_Missense_Mutation_p.T674N|YLPM1_ENST00000552421.1_Intron	p.T869N	NM_019589.2	NP_062535.2	WXS	Illumina GAIIx	Phase_I	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	5	2730	+			674			Arg-rich.		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000325680.7	37	c.2606C>A	CCDS45135.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904810	0.33628	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.66	4.75	0.60458	.	0.376626	0.26220	N	0.025637	T	0.26991	0.0661	N	0.22421	0.69	0.26154	N	0.980097	B	0.09022	0.002	B	0.08055	0.003	T	0.12941	-1.0528	9	0.41790	T	0.15	-6.527	7.5182	0.27612	0.1488:0.731:0.0:0.1203	.	869	P49750-4	.	N	869;674;582	.	ENSP00000238571:T674N	T	+	2	0	YLPM1	74334359	0.057000	0.20700	1.000000	0.80357	0.999000	0.98932	0.539000	0.23175	1.465000	0.48006	0.643000	0.83706	ACC		0.443	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		8	527	1	0	0.00307968	1	0.00333443	8	527				
VTA1	51534	broad.mit.edu	37	6	142490816	142490816	+	Splice_Site	SNP	T	T	A	rs201442533		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:142490816T>A	ENST00000367630.4	+	3	393		c.e3+2		VTA1_ENST00000367621.1_Splice_Site|VTA1_ENST00000452973.2_Splice_Site	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1						endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		ATTTCACAAGTAAGTAAAGAG	0.303																																						ENST00000367630.4																			0				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.e3+2		vesicle (multivesicular body) trafficking 1							47.0	47.0	47.0					6																	142490816		2203	4300	6503	SO:0001630	splice_region_variant	51534				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	g.chr6:142490816T>A	AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"""chromosome 6 open reading frame 55"", ""Vps20-associated 1 homolog (S. cerevisiae)"""	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.335+2T>A	6.37:g.142490816T>A			Somatic				VTA1_ENST00000367621.1_Splice_Site|VTA1_ENST00000452973.2_Splice_Site		NM_016485.3	NP_057569.2	WXS	Illumina GAIIx	Phase_I	Q9NP79	VTA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)	3	393	+	Breast(32;0.155)							B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Splice_Site	SNP	ENST00000367630.4	37		CCDS5197.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.677272	0.68042	.	.	ENSG00000009844	ENST00000367630;ENST00000367621;ENST00000452973;ENST00000427932	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5608	0.68133	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	VTA1	142532509	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.491000	0.81471	1.891000	0.54761	0.533000	0.62120	.		0.303	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2	NM_016485	Intron	6	47	0	0	0	1	0	6	47				
SLC9A2	6549	broad.mit.edu	37	2	103311500	103311500	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:103311500A>T	ENST00000233969.2	+	7	1657		c.e7-1		SLC9A2_ENST00000469286.1_Splice_Site	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2						ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTTCTGTTTTAGTTGTTTGAT	0.353																																						ENST00000233969.2																			0				breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.e7-1		solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2							211.0	214.0	213.0					2																	103311500		2203	4300	6503	SO:0001630	splice_region_variant	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103311500A>T		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1516-1A>T	2.37:g.103311500A>T			Somatic				SLC9A2_ENST00000469286.1_Splice_Site		NM_003048.3	NP_003039.2	WXS	Illumina GAIIx	Phase_I	Q9UBY0	SL9A2_HUMAN			7	1657	+								B2RMS2	Splice_Site	SNP	ENST00000233969.2	37		CCDS2062.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.097868	0.76870	.	.	ENSG00000115616	ENST00000233969	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC9A2	102677932	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	7.187000	0.77730	2.254000	0.74563	0.533000	0.62120	.		0.353	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2		Intron	6	114	0	0	0	1	0	6	114				
ADH1B	125	broad.mit.edu	37	4	100235178	100235178	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:100235178T>A	ENST00000305046.8	-	6	695	c.628A>T	c.(628-630)Atg>Ttg	p.M210L	ADH1B_ENST00000394887.3_Missense_Mutation_p.M170L			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	210					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	TTACAGCCCATAACAGCAGAT	0.483																																						ENST00000305046.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33						c.(628-630)Atg>Ttg		alcohol dehydrogenase 1B (class I), beta polypeptide	Fomepizole(DB01213)|NADH(DB00157)						242.0	243.0	242.0					4																	100235178		2203	4300	6503	SO:0001583	missense	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100235178T>A	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.628A>T	4.37:g.100235178T>A	ENSP00000306606:p.Met210Leu		Somatic				ADH1B_ENST00000394887.3_Missense_Mutation_p.M170L	p.M210L			WXS	Illumina GAIIx	Phase_I	P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	6	695	-			210					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	ENST00000305046.8	37	c.628A>T	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	T	9.881	1.201506	0.22121	.	.	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	T;T	0.03982	3.74;3.74	3.81	2.59	0.31030	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.222196	0.52532	D	0.000063	T	0.06781	0.0173	L	0.50847	1.595	0.52501	D	0.999951	B;B;B	0.13145	0.001;0.003;0.007	B;B;B	0.33392	0.043;0.006;0.163	T	0.25882	-1.0119	10	0.30854	T	0.27	-8.6093	8.9429	0.35740	0.0:0.0916:0.0:0.9084	.	197;170;210	F5HB16;A8MYN5;P00325	.;.;ADH1B_HUMAN	L	210;170;197	ENSP00000306606:M210L;ENSP00000378351:M170L	ENSP00000306606:M210L	M	-	1	0	ADH1B	100454201	1.000000	0.71417	0.620000	0.29132	0.089000	0.18198	5.563000	0.67352	0.336000	0.23639	0.459000	0.35465	ATG		0.483	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		10	1626	0	0	0	1	0	10	1626				
SDHA	6389	broad.mit.edu	37	5	228381	228381	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:228381A>T	ENST00000264932.6	+	6	818	c.703A>T	c.(703-705)Atc>Ttc	p.I235F	SDHA_ENST00000510361.1_Missense_Mutation_p.I187F|SDHA_ENST00000504309.1_Missense_Mutation_p.I235F	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	235					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CCGTGGTGTCATCGCACTGTG	0.428									Familial Paragangliomas																													ENST00000264932.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(703-705)Atc>Ttc		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						99.0	91.0	94.0					5																	228381		2203	4300	6503	SO:0001583	missense	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:228381A>T	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.703A>T	5.37:g.228381A>T	ENSP00000264932:p.Ile235Phe		Somatic				SDHA_ENST00000510361.1_Missense_Mutation_p.I187F|SDHA_ENST00000504309.1_Missense_Mutation_p.I235F	p.I235F	NM_004168.2	NP_004159.2	WXS	Illumina GAIIx	Phase_I	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		6	818	+			235					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.703A>T	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	a	19.19	3.779259	0.70107	.	.	ENSG00000073578	ENST00000264932;ENST00000504309;ENST00000510361	T;T;T	0.70869	-0.52;-0.52;-0.52	5.23	5.23	0.72850	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.136916	0.47455	U	0.000240	D	0.82774	0.5110	M	0.81942	2.565	0.80722	D	1	D;D;D;D;D	0.69078	0.98;0.993;0.997;0.997;0.997	P;D;P;D;D	0.63703	0.883;0.917;0.88;0.917;0.917	D	0.85499	0.1190	10	0.87932	D	0	.	13.4155	0.60966	1.0:0.0:0.0:0.0	.	187;235;235;235;241	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	F	235;235;187	ENSP00000264932:I235F;ENSP00000426514:I235F;ENSP00000427703:I187F	ENSP00000264932:I235F	I	+	1	0	SDHA	281381	1.000000	0.71417	0.042000	0.18584	0.341000	0.28922	8.895000	0.92512	2.127000	0.65507	0.524000	0.50904	ATC		0.428	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		5	87	0	0	0	1	0	5	87				
DPAGT1	1798	broad.mit.edu	37	11	118981555	118981555	+	5'Flank	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:118981555A>T	ENST00000409993.2	-	0	0				C2CD2L_ENST00000336702.3_Splice_Site|C2CD2L_ENST00000528586.1_5'Flank			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)						cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TCCTGTCTGTAGTTGGAAGTC	0.527																																						ENST00000336702.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						c.e4-1		C2CD2-like							138.0	140.0	139.0					11																	118981555		2200	4295	6495	SO:0001631	upstream_gene_variant	9854					integral to membrane		g.chr11:118981555A>T	Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533		11.37:g.118981555A>T	Exception_encountered		Somatic						NM_014807.3	NP_055622.3	WXS	Illumina GAIIx	Phase_I	O14523	C2C2L_HUMAN			4	929	+								O15216|Q86WV9|Q9BWE6	Splice_Site	SNP	ENST00000409993.2	37		CCDS8411.1	.	.	.	.	.	.	.	.	.	.	A	9.174	1.021897	0.19433	.	.	ENSG00000172375	ENST00000336702	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8872	0.52608	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C2CD2L	118486765	1.000000	0.71417	0.855000	0.33649	0.173000	0.22820	7.146000	0.77373	2.026000	0.59711	0.533000	0.62120	.		0.527	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382		7	367	0	0	0	1	0	7	367				
TAS2R3	50831	broad.mit.edu	37	7	141464711	141464711	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:141464711A>T	ENST00000247879.2	+	1	815	c.753A>T	c.(751-753)ttA>ttT	p.L251F	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	251					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ttgctttcttAATTGCATCAT	0.408																																						ENST00000247879.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14						c.(751-753)ttA>ttT		taste receptor, type 2, member 3							100.0	92.0	95.0					7																	141464711		2203	4300	6503	SO:0001583	missense	50831				sensory perception of taste		taste receptor activity	g.chr7:141464711A>T	AF227130	CCDS5867.1	7q31.3-q32	2012-08-22			ENSG00000127362	ENSG00000127362		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14910	protein-coding gene	gene with protein product		604868					Standard	NM_016943		Approved	T2R3	uc003vwp.1	Q9NYW6	OTTHUMG00000157637	ENST00000247879.2:c.753A>T	7.37:g.141464711A>T	ENSP00000247879:p.Leu251Phe		Somatic				SSBP1_ENST00000465582.1_Intron	p.L251F	NM_016943.2	NP_058639.1	WXS	Illumina GAIIx	Phase_I	Q9NYW6	TA2R3_HUMAN			1	815	+	Melanoma(164;0.0171)		251					A4D1U2|Q645W2|Q75MV6	Missense_Mutation	SNP	ENST00000247879.2	37	c.753A>T	CCDS5867.1	.	.	.	.	.	.	.	.	.	.	A	11.11	1.542307	0.27563	.	.	ENSG00000127362	ENST00000247879	T	0.41758	0.99	5.41	-5.76	0.02376	.	1.317490	0.05404	N	0.541237	T	0.24624	0.0597	L	0.31157	0.91	0.09310	N	1	B	0.17465	0.022	B	0.17433	0.018	T	0.34950	-0.9808	10	0.72032	D	0.01	.	1.1254	0.01734	0.3389:0.3138:0.1416:0.2056	.	251	Q9NYW6	TA2R3_HUMAN	F	251	ENSP00000247879:L251F	ENSP00000247879:L251F	L	+	3	2	TAS2R3	141111180	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.547000	0.06055	-0.464000	0.06963	-0.472000	0.04984	TTA		0.408	TAS2R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349288.1			6	216	0	0	0	1	0	6	216				
DNAH3	55567	broad.mit.edu	37	16	21071661	21071661	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:21071661C>A	ENST00000261383.3	-	26	3736	c.3737G>T	c.(3736-3738)tGg>tTg	p.W1246L	DNAH3_ENST00000415178.1_Missense_Mutation_p.W1246L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1246	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTGCTGGAGCCACTTTTCCAC	0.527																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(3736-3738)tGg>tTg		dynein, axonemal, heavy chain 3							164.0	156.0	159.0					16																	21071661		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21071661C>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3737G>T	16.37:g.21071661C>A	ENSP00000261383:p.Trp1246Leu		Somatic				DNAH3_ENST00000415178.1_Missense_Mutation_p.W1246L	p.W1246L	NM_017539.1	NP_060009.1	WXS	Illumina GAIIx	Phase_I	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	26	3736	-			1246			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.3737G>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.043389	0.93685	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.71341	-0.56;-0.56	5.47	5.47	0.80525	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	D	0.91036	0.7180	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94308	0.7543	10	0.87932	D	0	.	19.3379	0.94326	0.0:1.0:0.0:0.0	.	1246	Q8TD57	DYH3_HUMAN	L	1246	ENSP00000261383:W1246L;ENSP00000394245:W1246L	ENSP00000261383:W1246L	W	-	2	0	DNAH3	20979162	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.751000	0.85126	2.583000	0.87209	0.637000	0.83480	TGG		0.527	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		24	339	1	0	1.42536e-11	1	1.79005e-11	24	339				
PCDHB7	56129	broad.mit.edu	37	5	140553263	140553263	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:140553263T>C	ENST00000231137.3	+	1	1021	c.847T>C	c.(847-849)Tac>Cac	p.Y283H		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	283	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCATTTTCTTACGCCACTGA	0.438																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(847-849)Tac>Cac									81.0	86.0	84.0					5																	140553263		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553263T>C	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.847T>C	5.37:g.140553263T>C	ENSP00000231137:p.Tyr283His		Somatic					p.Y283H	NM_018940.2	NP_061763.1	WXS	Illumina GAIIx	Phase_I	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1021	+			283			Cadherin 3.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.847T>C	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	T	0.691	-0.794632	0.02862	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.51325	0.71	4.61	1.91	0.25777	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.13286	0.0322	N	0.00630	-1.315	0.21652	N	0.999603	B	0.06786	0.001	B	0.11329	0.006	T	0.28332	-1.0047	9	0.14252	T	0.57	.	2.2093	0.03944	0.2427:0.3597:0.0:0.3976	.	283	Q9Y5E2	PCDB7_HUMAN	H	283;66	ENSP00000231137:Y283H	ENSP00000231137:Y283H	Y	+	1	0	PCDHB7	140533447	0.000000	0.05858	0.953000	0.39169	0.789000	0.44602	-0.259000	0.08721	0.719000	0.32188	0.533000	0.62120	TAC		0.438	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		4	413	0	0	0	1	0	4	413				
DNAJC2	27000	broad.mit.edu	37	7	102953051	102953051	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:102953051C>A	ENST00000379263.3	-	17	2081	c.1831G>T	c.(1831-1833)Gaa>Taa	p.E611*	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Nonsense_Mutation_p.E558*|PMPCB_ENST00000249269.4_3'UTR	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	611					'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						AGCACTTGTTCTTGAGCAGCT	0.328																																						ENST00000379263.3																			0				endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						c.(1831-1833)Gaa>Taa		DnaJ (Hsp40) homolog, subfamily C, member 2							177.0	158.0	164.0					7																	102953051		1858	4102	5960	SO:0001587	stop_gained	27000				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding	g.chr7:102953051C>A	X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"""Heat shock proteins / DNAJ (HSP40)"""	13192	protein-coding gene	gene with protein product		605502	"""zuotin related factor 1"""	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.1831G>T	7.37:g.102953051C>A	ENSP00000368565:p.Glu611*		Somatic				PMPCB_ENST00000249269.4_3'UTR|DNAJC2_ENST00000249270.7_Nonsense_Mutation_p.E558*|PMPCB_ENST00000420236.2_Intron	p.E611*	NM_014377.1	NP_055192.1	WXS	Illumina GAIIx	Phase_I	Q99543	DNJC2_HUMAN			17	2081	-			611					A4VCI0|Q9BVX1	Nonsense_Mutation	SNP	ENST00000379263.3	37	c.1831G>T	CCDS43628.1	.	.	.	.	.	.	.	.	.	.	C	37	6.076131	0.97262	.	.	ENSG00000105821	ENST00000249270;ENST00000379263	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-14.4074	19.664	0.95886	0.0:1.0:0.0:0.0	.	.	.	.	X	558;611	.	ENSP00000249270:E558X	E	-	1	0	DNAJC2	102740287	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.410000	0.66381	2.656000	0.90262	0.655000	0.94253	GAA		0.328	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1			5	182	1	0	0.0293803	1	0.0306284	5	182				
ZNF236	7776	broad.mit.edu	37	18	74624255	74624255	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:74624255G>A	ENST00000253159.8	+	17	3053	c.2855G>A	c.(2854-2856)gGt>gAt	p.G952D	ZNF236_ENST00000320610.9_Missense_Mutation_p.G954D	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	952					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CAGGCACAAGGTTCCCAGTTT	0.488																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(2854-2856)gGt>gAt		zinc finger protein 236							67.0	68.0	68.0					18																	74624255		1949	4153	6102	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74624255G>A	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2855G>A	18.37:g.74624255G>A	ENSP00000253159:p.Gly952Asp		Somatic				ZNF236_ENST00000320610.9_Missense_Mutation_p.G954D	p.G952D	NM_007345.3	NP_031371.3	WXS	Illumina GAIIx	Phase_I	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	17	3053	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	952					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.2855G>A	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	1.165	-0.642757	0.03531	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.11495	2.77;2.9	5.63	4.74	0.60224	.	0.465056	0.21005	N	0.081786	T	0.06416	0.0165	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32981	-0.9886	10	0.13470	T	0.59	.	16.3683	0.83344	0.0:0.1319:0.8681:0.0	.	952	Q9UL36	ZN236_HUMAN	D	952	ENSP00000253159:G952D;ENSP00000444524:G952D	ENSP00000253159:G952D	G	+	2	0	ZNF236	72753243	0.090000	0.21635	0.000000	0.03702	0.020000	0.10135	2.873000	0.48475	1.340000	0.45581	0.655000	0.94253	GGT		0.488	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			12	93	0	0	0	1	0	12	93				
WFDC11	259239	broad.mit.edu	37	20	44279177	44279177	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:44279177C>T	ENST00000356562.2	-	3	284	c.63G>A	c.(61-63)ctG>ctA	p.L21L	WFDC11_ENST00000324384.3_Silent_p.L21L			Q8NEX6	WFD11_HUMAN	WAP four-disulfide core domain 11	21						extracellular region (GO:0005576)				endometrium(1)|lung(4)	5		Myeloproliferative disorder(115;0.0122)				CCAGCACAGACAGTAGCACCG	0.468																																						ENST00000356562.2																			0				endometrium(1)|lung(4)	5						c.(61-63)ctG>ctA		WAP four-disulfide core domain 11							237.0	200.0	213.0					20																	44279177		2203	4300	6503	SO:0001819	synonymous_variant	259239					extracellular region		g.chr20:44279177C>T	AY047609	CCDS13364.1	20q13.12	2013-01-21			ENSG00000180083	ENSG00000180083		"""WAP four-disulfide core domain containing"""	20478	protein-coding gene	gene with protein product						12206714	Standard	NM_147197		Approved	WAP11	uc002xpa.3	Q8NEX6	OTTHUMG00000046330	ENST00000356562.2:c.63G>A	20.37:g.44279177C>T			Somatic				WFDC11_ENST00000324384.3_Silent_p.L21L	p.L21L			WXS	Illumina GAIIx	Phase_I	Q8NEX6	WFD11_HUMAN			3	284	-		Myeloproliferative disorder(115;0.0122)	21					E1P624|Q5TGZ6	Silent	SNP	ENST00000356562.2	37	c.63G>A	CCDS13364.1																																																																																				0.468	WFDC11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106943.1			6	520	0	0	0	1	0	6	520				
FNIP1	96459	broad.mit.edu	37	5	131007746	131007746	+	Silent	SNP	A	A	T	rs75277328	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:131007746A>T	ENST00000510461.1	-	14	2486	c.2391T>A	c.(2389-2391)acT>acA	p.T797T	FNIP1_ENST00000307954.8_Silent_p.T752T|FNIP1_ENST00000307968.7_Silent_p.T769T|CTC-432M15.3_ENST00000514667.1_Intron	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	797					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TTGTTTGTTTAGTTTCTTGAT	0.443																																						ENST00000307968.7																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2305-2307)acT>acA		folliculin interacting protein 1							216.0	199.0	204.0					5																	131007746		2203	4300	6503	SO:0001819	synonymous_variant	96459							g.chr5:131007746A>T	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.2391T>A	5.37:g.131007746A>T			Somatic				FNIP1_ENST00000307954.8_Silent_p.T752T|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Silent_p.T797T	p.T769T	NM_001008738.2	NP_001008738.2	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	13	2306	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)						D6RJH5|Q86T47|Q9BUT0	Silent	SNP	ENST00000510461.1	37	c.2307T>A	CCDS34227.1																																																																																				0.443	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		5	310	0	0	0	1	0	5	310				
NSD1	64324	broad.mit.edu	37	5	176638432	176638432	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:176638432G>C	ENST00000439151.2	+	5	3077	c.3032G>C	c.(3031-3033)aGt>aCt	p.S1011T	NSD1_ENST00000361032.4_Missense_Mutation_p.S908T|NSD1_ENST00000347982.4_Missense_Mutation_p.S742T|NSD1_ENST00000354179.4_Missense_Mutation_p.S742T	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1011					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCTGGTAAAAGTCGTTCAGAC	0.498			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(3031-3033)aGt>aCt		nuclear receptor binding SET domain protein 1							131.0	125.0	127.0					5																	176638432		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176638432G>C	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3032G>C	5.37:g.176638432G>C	ENSP00000395929:p.Ser1011Thr	HNSCC(47;0.14)	Somatic				NSD1_ENST00000347982.4_Missense_Mutation_p.S742T|NSD1_ENST00000354179.4_Missense_Mutation_p.S742T|NSD1_ENST00000361032.4_Missense_Mutation_p.S908T	p.S1011T	NM_022455.4	NP_071900.2	WXS	Illumina GAIIx	Phase_I	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	3077	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1011					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.3032G>C	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	7.175	0.588514	0.13812	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93076	-3.06;-3.06;-3.06;-3.16	4.7	-0.71	0.11234	.	0.846380	0.10568	N	0.659475	D	0.82287	0.5004	N	0.14661	0.345	0.09310	N	1	B;B;B	0.26547	0.136;0.152;0.044	B;B;B	0.28011	0.053;0.085;0.024	T	0.69587	-0.5105	9	.	.	.	.	0.932	0.01337	0.3814:0.1482:0.3083:0.1621	.	742;908;1011	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	T	742;1011;742;908	ENSP00000346111:S742T;ENSP00000395929:S1011T;ENSP00000343209:S742T;ENSP00000354310:S908T	.	S	+	2	0	NSD1	176571038	0.953000	0.32496	0.788000	0.31933	0.878000	0.50629	0.147000	0.16202	-0.252000	0.09528	0.563000	0.77884	AGT		0.498	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		10	736	0	0	0	1	0	10	736				
ACIN1	22985	broad.mit.edu	37	14	23532750	23532750	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:23532750C>A	ENST00000262710.1	-	13	3133	c.2806G>T	c.(2806-2808)Gaa>Taa	p.E936*	ACIN1_ENST00000555053.1_Nonsense_Mutation_p.E923*|ACIN1_ENST00000357481.2_Nonsense_Mutation_p.E178*|ACIN1_ENST00000397341.3_Nonsense_Mutation_p.E178*|ACIN1_ENST00000457657.1_Nonsense_Mutation_p.E896*|ACIN1_ENST00000557515.1_Nonsense_Mutation_p.E177*|ACIN1_ENST00000605057.1_Nonsense_Mutation_p.E878*|ACIN1_ENST00000338631.6_Nonsense_Mutation_p.E209*	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	936					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCCTCTTCTTCCCTCTGCCCA	0.517																																						ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(2806-2808)Gaa>Taa		apoptotic chromatin condensation inducer 1							93.0	84.0	87.0					14																	23532750		2203	4300	6503	SO:0001587	stop_gained	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23532750C>A	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.2806G>T	14.37:g.23532750C>A	ENSP00000262710:p.Glu936*		Somatic				ACIN1_ENST00000357481.2_Nonsense_Mutation_p.E178*|ACIN1_ENST00000338631.6_Nonsense_Mutation_p.E209*|ACIN1_ENST00000555053.1_Nonsense_Mutation_p.E923*|ACIN1_ENST00000605057.1_Nonsense_Mutation_p.E878*|ACIN1_ENST00000457657.1_Nonsense_Mutation_p.E896*|ACIN1_ENST00000397341.3_Nonsense_Mutation_p.E178*|ACIN1_ENST00000557515.1_Nonsense_Mutation_p.E177*	p.E936*	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	WXS	Illumina GAIIx	Phase_I	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	13	3133	-	all_cancers(95;1.36e-05)		936					B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Nonsense_Mutation	SNP	ENST00000262710.1	37	c.2806G>T	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	C	35	5.546447	0.96488	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053;ENST00000555566	.	.	.	5.16	5.16	0.70880	.	0.215770	0.23498	N	0.047535	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-4.5859	17.5916	0.87998	0.0:1.0:0.0:0.0	.	.	.	.	X	177;209;178;936;896;178;923;166	.	ENSP00000262710:E936X	E	-	1	0	ACIN1	22602590	1.000000	0.71417	0.997000	0.53966	0.927000	0.56198	5.764000	0.68826	2.683000	0.91414	0.655000	0.94253	GAA		0.517	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		97	810	1	0	2.99311e-26	1	3.96167e-26	97	810				
AMOTL2	51421	broad.mit.edu	37	3	134077468	134077468	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:134077468C>G	ENST00000422605.2	-	9	2361	c.2195G>C	c.(2194-2196)gGc>gCc	p.G732A	AMOTL2_ENST00000514516.1_Missense_Mutation_p.G790A|AMOTL2_ENST00000513145.1_Missense_Mutation_p.G730A|RPL39P5_ENST00000273411.2_RNA|AMOTL2_ENST00000249883.5_Missense_Mutation_p.G733A			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	732					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GTCTGGGGGGCCCTCAGTCTG	0.637											OREG0015814	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000514516.1																			0				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(2368-2370)gGc>gCc		angiomotin like 2							55.0	49.0	51.0					3																	134077468		2203	4300	6503	SO:0001583	missense	51421							g.chr3:134077468C>G	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.2195G>C	3.37:g.134077468C>G	ENSP00000409999:p.Gly732Ala		Somatic	OREG0015814	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1607	AMOTL2_ENST00000249883.5_Missense_Mutation_p.G733A|AMOTL2_ENST00000422605.2_Missense_Mutation_p.G732A|AMOTL2_ENST00000513145.1_Missense_Mutation_p.G730A	p.G790A	NM_001278683.1	NP_001265612.1	WXS	Illumina GAIIx	Phase_I	Q9Y2J4	AMOL2_HUMAN			9	2547	-			732					A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	ENST00000422605.2	37	c.2369G>C		.	.	.	.	.	.	.	.	.	.	C	13.57	2.275573	0.40294	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.17213	2.31;2.3;2.29;2.3	5.48	5.48	0.80851	.	0.592892	0.18301	N	0.145418	T	0.18341	0.0440	L	0.50333	1.59	0.09310	N	0.999995	P;P;P	0.41393	0.668;0.454;0.748	B;B;B	0.39738	0.308;0.176;0.162	T	0.24941	-1.0146	10	0.10377	T	0.69	-8.5974	17.1753	0.86840	0.0:1.0:0.0:0.0	.	730;733;790	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	A	733;732;790;730	ENSP00000249883:G733A;ENSP00000409999:G732A;ENSP00000424765:G790A;ENSP00000425475:G730A	ENSP00000249883:G733A	G	-	2	0	AMOTL2	135560158	0.000000	0.05858	0.010000	0.14722	0.056000	0.15407	-0.167000	0.09940	2.572000	0.86782	0.655000	0.94253	GGC		0.637	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	NM_016201		4	54	0	0	0	1	0	4	54				
MTMR11	10903	broad.mit.edu	37	1	149905312	149905312	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:149905312G>A	ENST00000439741.2	-	10	1222	c.972C>T	c.(970-972)gcC>gcT	p.A324A	MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000369140.3_Silent_p.A252A|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_Silent_p.A296A	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	324	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GCAGGCAGAGGGCCCTCAGCC	0.557																																						ENST00000439741.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34						c.(970-972)gcC>gcT		myotubularin related protein 11							114.0	112.0	113.0					1																	149905312		2203	4300	6503	SO:0001819	synonymous_variant	10903						phosphatase activity	g.chr1:149905312G>A	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.972C>T	1.37:g.149905312G>A			Somatic				MTMR11_ENST00000406732.3_Silent_p.A296A|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000369140.3_Silent_p.A252A	p.A324A	NM_001145862.1	NP_001139334.1	WXS	Illumina GAIIx	Phase_I	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		10	1222	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		324			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Silent	SNP	ENST00000439741.2	37	c.972C>T	CCDS53360.1																																																																																				0.557	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		6	282	0	0	0	1	0	6	282				
HLA-DPB1	3115	broad.mit.edu	37	6	33053608	33053608	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:33053608C>A	ENST00000418931.2	+	4	815	c.699C>A	c.(697-699)ttC>ttA	p.F233L		NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	233					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	peptide antigen binding (GO:0042605)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						CTGGGGGCTTCGTGCTGGGGC	0.582																																						ENST00000418931.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						c.(697-699)ttC>ttA		major histocompatibility complex, class II, DP beta 1							109.0	96.0	100.0					6																	33053608		2203	4300	6503	SO:0001583	missense	3115				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex		g.chr6:33053608C>A		CCDS4765.1	6p21.3	2013-01-11			ENSG00000223865	ENSG00000223865		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4940	protein-coding gene	gene with protein product		142858		HLA-DP1B			Standard	NM_002121		Approved		uc003ocu.2	P04440	OTTHUMG00000031076	ENST00000418931.2:c.699C>A	6.37:g.33053608C>A	ENSP00000408146:p.Phe233Leu		Somatic					p.F233L	NM_002121.5	NP_002112.3	WXS	Illumina GAIIx	Phase_I	P04440	DPB1_HUMAN			4	815	+			233					A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12	Missense_Mutation	SNP	ENST00000418931.2	37	c.699C>A	CCDS4765.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	5.587|5.587|5.587	0.293019|0.293019|0.293019	0.10567|0.10567|0.10567	.|.|.	.|.|.	ENSG00000223865|ENSG00000223865|ENSG00000223865	ENST00000418931;ENST00000411942;ENST00000428835|ENST00000422592|ENST00000416804	T;T|.|.	0.00611|.|.	6.37;6.23|.|.	4.03|4.03|4.03	-5.38|-5.38|-5.38	0.02673|0.02673|0.02673	Immunoglobulin-like fold (1);|.|.	0.233893|.|.	0.35805|.|.	N|.|.	0.002964|.|.	T|T|.	0.03695|0.03695|.	0.0105|0.0105|.	N|N|N	0.11023|0.11023|0.11023	0.085|0.085|0.085	0.29679|0.29679|0.29679	N|N|N	0.841837|0.841837|0.841837	B;B;B|.|.	0.17038|.|.	0.011;0.02;0.02|.|.	B;B;B|.|.	0.20184|.|.	0.028;0.028;0.028|.|.	T|T|.	0.26985|0.26985|.	-1.0087|-1.0087|.	10|6|.	0.66056|0.87932|.	D|D|.	0.02|0|.	.|.|.	1.1904|1.1904|1.1904	0.01864|0.01864|0.01864	0.1314:0.2705:0.2801:0.318|0.1314:0.2705:0.2801:0.318|0.1314:0.2705:0.2801:0.318	.|.|.	199;243;233|.|.	A2ALJ6;Q59GY1;P04440|.|.	.;.;DPB1_HUMAN|.|.	L|S|X	233;203;210|44|200	ENSP00000408146:F233L;ENSP00000412654:F210L|.|.	ENSP00000389210:F203L|ENSP00000413559:R44S|.	F|R|S	+|+|+	3|1|2	2|0|0	HLA-DPB1|HLA-DPB1|HLA-DPB1	33161586|33161586|33161586	0.385000|0.385000|0.385000	0.25172|0.25172|0.25172	0.040000|0.040000|0.040000	0.18447|0.18447|0.18447	0.135000|0.135000|0.135000	0.20990|0.20990|0.20990	-0.612000|-0.612000|-0.612000	0.05616|0.05616|0.05616	-1.229000|-1.229000|-1.229000	0.02564|0.02564|0.02564	-0.366000|-0.366000|-0.366000	0.07423|0.07423|0.07423	TTC|CGT|TCG		0.582	HLA-DPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076106.2	NM_002121		43	236	1	0	2.01807e-28	1	2.68317e-28	43	236				
TSHZ1	10194	broad.mit.edu	37	18	72999908	72999908	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:72999908G>A	ENST00000580243.1	+	2	2894	c.2546G>A	c.(2545-2547)gGc>gAc	p.G849D	TSHZ1_ENST00000322038.5_Missense_Mutation_p.G804D			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	849					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AACCTCACAGGCCGCCTGACG	0.597																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(2410-2412)gGc>gAc		teashirt zinc finger homeobox 1							71.0	65.0	67.0					18																	72999908		2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72999908G>A	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2546G>A	18.37:g.72999908G>A	ENSP00000464391:p.Gly849Asp		Somatic				TSHZ1_ENST00000580243.1_Missense_Mutation_p.G849D	p.G804D	NM_005786.5	NP_005777.3	WXS	Illumina GAIIx	Phase_I	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	2995	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	849					O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.2411G>A		.	.	.	.	.	.	.	.	.	.	G	7.201	0.593468	0.13875	.	.	ENSG00000179981	ENST00000322038	T	0.11385	2.78	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.22360	0.0539	L	0.57536	1.79	0.38996	D	0.959251	D	0.71674	0.998	P	0.58820	0.846	T	0.02053	-1.1222	10	0.21014	T	0.42	-45.3327	12.0142	0.53305	0.08:0.0:0.92:0.0	.	849	Q6ZSZ6	TSH1_HUMAN	D	804	ENSP00000323584:G804D	ENSP00000323584:G804D	G	+	2	0	TSHZ1	71128896	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	9.420000	0.97426	0.174000	0.19809	0.561000	0.74099	GGC		0.597	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		3	61	0	0	0	1	0	3	61				
RASAL3	64926	broad.mit.edu	37	19	15566947	15566947	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:15566947C>A	ENST00000343625.7	-	11	1774	c.1689G>T	c.(1687-1689)gaG>gaT	p.E563D	RASAL3_ENST00000608577.1_5'Flank	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	563	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CGAAGACCTCCTCGCAGCTGT	0.577																																						ENST00000343625.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						c.(1687-1689)gaG>gaT		RAS protein activator like 3							80.0	84.0	83.0					19																	15566947		2010	4172	6182	SO:0001583	missense	64926				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr19:15566947C>A		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.1689G>T	19.37:g.15566947C>A	ENSP00000341905:p.Glu563Asp		Somatic					p.E563D	NM_022904.1	NP_075055.1	WXS	Illumina GAIIx	Phase_I	Q86YV0	RASL3_HUMAN			11	1769	-			563			Ras-GAP.		Q8N2T9|Q9H735	Missense_Mutation	SNP	ENST00000343625.7	37	c.1689G>T	CCDS46006.1	.	.	.	.	.	.	.	.	.	.	c	16.92	3.256742	0.59321	.	.	ENSG00000105122	ENST00000343625	D	0.81659	-1.52	4.98	2.83	0.33086	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.225048	0.21152	U	0.079316	T	0.77485	0.4137	L	0.41824	1.3	0.39859	D	0.973353	P;P	0.49783	0.911;0.928	P;P	0.52066	0.562;0.689	T	0.77986	-0.2381	10	0.87932	D	0	.	6.4613	0.21958	0.0:0.7154:0.0:0.2846	.	563;563	Q86YV0-2;Q86YV0	.;RASL3_HUMAN	D	563	ENSP00000341905:E563D	ENSP00000341905:E563D	E	-	3	2	RASAL3	15427947	0.636000	0.27207	1.000000	0.80357	0.834000	0.47266	1.335000	0.33839	1.242000	0.43836	0.457000	0.33378	GAG		0.577	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	NM_022904		5	112	1	0	0.014758	1	0.0155779	5	112				
MRPL15	29088	broad.mit.edu	37	8	55049839	55049839	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:55049839A>G	ENST00000260102.4	+	3	349	c.275A>G	c.(274-276)cAg>cGg	p.Q92R		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	92					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.Q92P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			TTCAGACGCCAGTATAAGCCT	0.398																																						ENST00000260102.4																			1	Substitution - Missense(1)	p.Q92P(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10						c.(274-276)cAg>cGg		mitochondrial ribosomal protein L15							122.0	119.0	120.0					8																	55049839		2203	4300	6503	SO:0001583	missense	29088				translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	g.chr8:55049839A>G	AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547		"""Mitochondrial ribosomal proteins / large subunits"""	14054	protein-coding gene	gene with protein product		611828				11543634	Standard	NM_014175		Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.275A>G	8.37:g.55049839A>G	ENSP00000260102:p.Gln92Arg		Somatic					p.Q92R	NM_014175.3	NP_054894.1	WXS	Illumina GAIIx	Phase_I	Q9P015	RM15_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)		3	349	+		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	92					Q96Q54|Q9H0Y1	Missense_Mutation	SNP	ENST00000260102.4	37	c.275A>G	CCDS6158.1	.	.	.	.	.	.	.	.	.	.	A	19.75	3.886344	0.72410	.	.	ENSG00000137547	ENST00000260102;ENST00000519831	.	.	.	4.97	4.97	0.65823	Ribosomal protein L18e/L15P (2);	0.000000	0.85682	D	0.000000	T	0.64821	0.2633	L	0.38175	1.15	0.80722	D	1	B	0.30727	0.292	P	0.45794	0.493	T	0.66610	-0.5880	9	0.51188	T	0.08	-26.6787	14.9604	0.71153	1.0:0.0:0.0:0.0	.	92	Q9P015	RM15_HUMAN	R	92	.	ENSP00000260102:Q92R	Q	+	2	0	MRPL15	55212392	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.287000	0.95975	1.985000	0.57927	0.533000	0.62120	CAG		0.398	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378254.1	NM_014175		5	692	0	0	0	1	0	5	692				
TAGAP	117289	broad.mit.edu	37	6	159457058	159457058	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:159457058C>T	ENST00000367066.3	-	10	2328	c.1997G>A	c.(1996-1998)cGa>cAa	p.R666Q	RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.R488Q|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	666					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTGTTTCCATCGCTCAGGCAG	0.627																																						ENST00000367066.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23						c.(1996-1998)cGa>cAa		T-cell activation RhoGTPase activating protein							92.0	83.0	86.0					6																	159457058		2203	4300	6503	SO:0001583	missense	117289				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr6:159457058C>T	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.1997G>A	6.37:g.159457058C>T	ENSP00000356033:p.Arg666Gln		Somatic				RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.R488Q|RP1-111C20.4_ENST00000606466.1_RNA	p.R666Q	NM_054114.3	NP_473455.2	WXS	Illumina GAIIx	Phase_I	Q8N103	TAGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	10	2328	-		Breast(66;0.000776)|Ovarian(120;0.0303)	666					Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	ENST00000367066.3	37	c.1997G>A	CCDS5261.1	.	.	.	.	.	.	.	.	.	.	C	7.585	0.669509	0.14776	.	.	ENSG00000164691	ENST00000367066;ENST00000326965	T;T	0.16897	2.31;2.57	5.09	-4.46	0.03536	.	1.404360	0.04014	N	0.298740	T	0.01320	0.0043	N	0.02011	-0.69	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.40213	-0.9575	10	0.18710	T	0.47	-0.6235	4.7259	0.12941	0.0855:0.548:0.2739:0.0926	.	666	Q8N103	TAGAP_HUMAN	Q	666;488	ENSP00000356033:R666Q;ENSP00000322650:R488Q	ENSP00000322650:R488Q	R	-	2	0	TAGAP	159377046	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.299000	0.08254	-0.621000	0.05633	-1.012000	0.02466	CGA		0.627	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		30	37	0	0	0	1	0	30	37				
PRUNE2	158471	broad.mit.edu	37	9	79259751	79259751	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:79259751C>A	ENST00000376718.3	-	12	8755	c.8632G>T	c.(8632-8634)Gac>Tac	p.D2878Y	PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000443509.2_Missense_Mutation_p.D127Y|PRUNE2_ENST00000223609.6_Missense_Mutation_p.D143Y|PRUNE2_ENST00000428286.1_Missense_Mutation_p.D2520Y	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2878					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGCCGGTTGTCCTCCCGTTCC	0.507																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(7558-7560)Gac>Tac		prune homolog 2 (Drosophila)							149.0	126.0	133.0					9																	79259751		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79259751C>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.8632G>T	9.37:g.79259751C>A	ENSP00000365908:p.Asp2878Tyr		Somatic				PRUNE2_ENST00000376718.3_Missense_Mutation_p.D2878Y|PRUNE2_ENST00000223609.6_Missense_Mutation_p.D143Y|PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000443509.2_Missense_Mutation_p.D127Y	p.D2520Y			WXS	Illumina GAIIx	Phase_I	Q8WUY3	PRUN2_HUMAN			12	8758	-			2878					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.7558G>T	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.2|29.2	4.983334|4.983334	0.93044|0.93044	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376717;ENST00000376718;ENST00000428286;ENST00000441554;ENST00000443509;ENST00000424866;ENST00000223609;ENST00000422033|ENST00000426088	T;T;T;T;T;T|.	0.58060|.	0.67;0.53;0.58;0.65;0.36;0.69|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81931|0.81931	0.4927|0.4927	M|M	0.79123|0.79123	2.44|2.44	0.80722|0.80722	D|D	1|1	D;P;D;D;D|.	0.89917|.	0.997;0.877;1.0;0.971;1.0|.	D;B;D;P;D|.	0.97110|.	0.974;0.43;0.993;0.832;1.0|.	T|T	0.80211|0.80211	-0.1476|-0.1476	10|5	0.62326|.	D|.	0.03|.	-25.9945|-25.9945	20.6244|20.6244	0.99512|0.99512	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	143;142;127;2879;2878|.	B4DSQ3;Q8WUY3-5;B4DJW7;Q8WUY3-3;Q8WUY3|.	.;.;.;.;PRUN2_HUMAN|.	Y|V	143;2878;2520;96;127;48;143;2878|2199	ENSP00000365907:D143Y;ENSP00000365908:D2878Y;ENSP00000397425:D2520Y;ENSP00000393843:D127Y;ENSP00000393657:D48Y;ENSP00000223609:D143Y|.	ENSP00000223609:D143Y|.	D|G	-|-	1|2	0|0	PRUNE2|PRUNE2	78449571|78449571	0.439000|0.439000	0.25610|0.25610	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	1.867000|1.867000	0.39499|0.39499	2.879000|2.879000	0.98667|0.98667	0.650000|0.650000	0.86243|0.86243	GAC|GGA		0.507	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		11	129	1	0	3.86212e-05	1	4.3495e-05	11	129				
ITGAE	3682	broad.mit.edu	37	17	3664715	3664715	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:3664715C>A	ENST00000263087.4	-	5	513	c.415G>T	c.(415-417)Gcc>Tcc	p.A139S		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	139					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AAGAAGTTGGCCTGAGCCTGG	0.567																																					NSCLC(182;635 2928 8995 38788)	ENST00000263087.4																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(415-417)Gcc>Tcc		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)							69.0	69.0	69.0					17																	3664715		2203	4300	6503	SO:0001583	missense	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3664715C>A	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.415G>T	17.37:g.3664715C>A	ENSP00000263087:p.Ala139Ser		Somatic					p.A139S	NM_002208.4	NP_002199.3	WXS	Illumina GAIIx	Phase_I	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	5	513	-			139					Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	c.415G>T	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.586597	0.28268	.	.	ENSG00000083457	ENST00000263087	D	0.93189	-3.18	3.69	3.69	0.42338	.	.	.	.	.	D	0.86318	0.5904	L	0.34521	1.04	0.09310	N	1	P	0.42827	0.791	B	0.29785	0.107	T	0.79344	-0.1842	9	0.41790	T	0.15	.	11.2127	0.48808	0.0:1.0:0.0:0.0	.	139	P38570	ITAE_HUMAN	S	139	ENSP00000263087:A139S	ENSP00000263087:A139S	A	-	1	0	ITGAE	3611464	0.000000	0.05858	0.015000	0.15790	0.080000	0.17528	0.271000	0.18626	2.358000	0.79984	0.407000	0.27541	GCC		0.567	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		4	62	1	0	0.000602214	1	0.000662999	4	62				
FRMD4A	55691	broad.mit.edu	37	10	13702551	13702551	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:13702551C>A	ENST00000357447.2	-	20	2031	c.1663G>T	c.(1663-1665)Gac>Tac	p.D555Y	FRMD4A_ENST00000358621.4_Missense_Mutation_p.D540Y|FRMD4A_ENST00000378503.1_Missense_Mutation_p.D555Y	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	555					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						ACCTGAGAGTCTTCTGCACAA	0.597											OREG0020030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(1663-1665)Gac>Tac		FERM domain containing 4A							75.0	76.0	76.0					10																	13702551		2203	4300	6503	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13702551C>A	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.1663G>T	10.37:g.13702551C>A	ENSP00000350032:p.Asp555Tyr		Somatic	OREG0020030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	689	FRMD4A_ENST00000378503.1_Missense_Mutation_p.D555Y|FRMD4A_ENST00000358621.4_Missense_Mutation_p.D540Y	p.D555Y	NM_018027.3	NP_060497.3	WXS	Illumina GAIIx	Phase_I	Q9P2Q2	FRM4A_HUMAN			20	2031	-			555					A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.1663G>T	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646771	0.87958	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	D;D;D	0.84223	-1.82;-1.82;-1.82	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.85708	0.5759	L	0.46157	1.445	0.80722	D	1	D	0.54397	0.966	P	0.47430	0.547	D	0.86846	0.2020	10	0.62326	D	0.03	-18.2771	19.6212	0.95656	0.0:1.0:0.0:0.0	.	555	Q9P2Q2	FRM4A_HUMAN	Y	540;555;555	ENSP00000351438:D540Y;ENSP00000350032:D555Y;ENSP00000367764:D555Y	ENSP00000350032:D555Y	D	-	1	0	FRMD4A	13742557	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.440000	0.80464	2.648000	0.89879	0.462000	0.41574	GAC		0.597	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		4	52	1	0	0.00909568	1	0.0096878	4	52				
TRIB2	28951	broad.mit.edu	37	2	12880890	12880890	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:12880890G>A	ENST00000155926.4	+	3	2421	c.1002G>A	c.(1000-1002)atG>atA	p.M334I	TRIB2_ENST00000381465.2_Missense_Mutation_p.M198I	NM_021643.3	NP_067675.1			tribbles pseudokinase 2									p.M334N(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACGTCAACATGGAAGAGAACT	0.512																																						ENST00000155926.4																			2	Substitution - Missense(2)	p.M334N(2)	lung(2)	breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19						c.(1000-1002)atG>atA		tribbles pseudokinase 2							78.0	72.0	74.0					2																	12880890		2203	4300	6503	SO:0001583	missense	28951				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr2:12880890G>A	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000155926.4:c.1002G>A	2.37:g.12880890G>A	ENSP00000155926:p.Met334Ile		Somatic				TRIB2_ENST00000381465.2_Missense_Mutation_p.M198I	p.M334I	NM_021643.3	NP_067675.1	WXS	Illumina GAIIx	Phase_I	Q92519	TRIB2_HUMAN			3	2421	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		334						Missense_Mutation	SNP	ENST00000155926.4	37	c.1002G>A	CCDS1683.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658277	0.47467	.	.	ENSG00000071575	ENST00000155926;ENST00000381465	T;T	0.43688	0.99;0.94	5.94	5.94	0.96194	Protein kinase-like domain (1);	0.034920	0.85682	D	0.000000	T	0.36220	0.0959	L	0.29908	0.895	0.80722	D	1	B	0.14438	0.01	B	0.12837	0.008	T	0.04930	-1.0917	10	0.35671	T	0.21	-38.0385	19.354	0.94404	0.0:0.0:1.0:0.0	.	334	Q92519	TRIB2_HUMAN	I	334;198	ENSP00000155926:M334I;ENSP00000370874:M198I	ENSP00000155926:M334I	M	+	3	0	TRIB2	12798341	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.912000	0.87465	2.820000	0.97059	0.650000	0.86243	ATG		0.512	TRIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207114.2	NM_021643		3	91	0	0	0	1	0	3	91				
C9orf153	389766	broad.mit.edu	37	9	88842305	88842305	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:88842305A>T	ENST00000376001.3	-	4	329	c.249T>A	c.(247-249)aaT>aaA	p.N83K	C9orf153_ENST00000339137.3_Intron|C9orf153_ENST00000469914.1_Intron	NM_001276366.1	NP_001263295.1	Q5TBE3	CI153_HUMAN	chromosome 9 open reading frame 153	83										breast(1)|lung(1)	2						tgtTCATTTTATTGACACTGT	0.323																																						ENST00000376001.3																			0				breast(1)|lung(1)	2						c.(247-249)aaT>aaA		chromosome 9 open reading frame 153							74.0	73.0	74.0					9																	88842305		2203	4299	6502	SO:0001583	missense	389766							g.chr9:88842305A>T		CCDS35055.1, CCDS35055.2	9q22.1	2012-04-03			ENSG00000187753	ENSG00000187753			31456	protein-coding gene	gene with protein product							Standard	NM_001276366		Approved	bA507D14.1	uc031teh.1	Q5TBE3	OTTHUMG00000020134	ENST00000376001.3:c.249T>A	9.37:g.88842305A>T	ENSP00000365169:p.Asn83Lys		Somatic				C9orf153_ENST00000339137.3_Intron|C9orf153_ENST00000469914.1_Intron	p.N83K	NM_001276366.1	NP_001263295.1	WXS	Illumina GAIIx	Phase_I	Q5TBE3	CI153_HUMAN			4	329	-			83					Q5TBE4	Missense_Mutation	SNP	ENST00000376001.3	37	c.249T>A	CCDS35055.1	.	.	.	.	.	.	.	.	.	.	A	3.058	-0.193944	0.06259	.	.	ENSG00000187753	ENST00000376001	.	.	.	1.27	-0.107	0.13592	.	.	.	.	.	T	0.07503	0.0189	N	0.01576	-0.805	0.09310	N	1	D	0.57899	0.981	P	0.45138	0.471	T	0.06516	-1.0822	8	0.07990	T	0.79	-4.8083	3.4106	0.07357	0.7438:0.0:0.2562:0.0	.	83	Q5TBE3	CI153_HUMAN	K	83	.	ENSP00000365169:N83K	N	-	3	2	C9orf153	88032125	.	.	0.007000	0.13788	0.366000	0.29705	.	.	-0.027000	0.13873	0.172000	0.16884	AAT		0.323	C9orf153-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052913.1	NM_001010907		4	81	0	0	0	1	0	4	81				
FRAS1	80144	broad.mit.edu	37	4	79293949	79293949	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:79293949C>A	ENST00000325942.6	+	24	3387	c.2947C>A	c.(2947-2949)Cag>Aag	p.Q983K	FRAS1_ENST00000264895.6_Missense_Mutation_p.Q983K	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	983					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTATGTTCTCCAGGATGGGGC	0.527																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(2947-2949)Cag>Aag		Fraser syndrome 1							132.0	135.0	134.0					4																	79293949		2010	4175	6185	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79293949C>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.2947C>A	4.37:g.79293949C>A	ENSP00000326330:p.Gln983Lys		Somatic				FRAS1_ENST00000325942.6_Missense_Mutation_p.Q983K	p.Q983K	NM_025074.6	NP_079350.5	WXS	Illumina GAIIx	Phase_I	Q86XX4	FRAS1_HUMAN			24	3387	+			983					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.2947C>A	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.913821	0.52439	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	T;T	0.75477	-0.94;-0.94	5.82	5.82	0.92795	.	0.061203	0.64402	D	0.000002	T	0.73071	0.3540	L	0.41124	1.26	0.80722	D	1	P;P	0.43885	0.749;0.82	B;B	0.43867	0.434;0.4	T	0.74460	-0.3658	10	0.54805	T	0.06	.	20.0801	0.97769	0.0:1.0:0.0:0.0	.	983;983	E9PHH6;A2RRR8	.;.	K	983	ENSP00000326330:Q983K;ENSP00000264895:Q983K	ENSP00000264895:Q983K	Q	+	1	0	FRAS1	79512973	1.000000	0.71417	0.992000	0.48379	0.043000	0.13939	7.237000	0.78164	2.733000	0.93635	0.655000	0.94253	CAG		0.527	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			130	1125	1	0	1.13981e-37	1	1.54333e-37	130	1125				
DPP8	54878	broad.mit.edu	37	15	65790316	65790316	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:65790316C>T	ENST00000341861.5	-	5	2229	c.649G>A	c.(649-651)Gat>Aat	p.D217N	DPP8_ENST00000559233.1_Missense_Mutation_p.D217N|DPP8_ENST00000321118.7_Missense_Mutation_p.D217N|DPP8_ENST00000300141.6_Missense_Mutation_p.D201N|DPP8_ENST00000358939.4_Missense_Mutation_p.D201N|DPP8_ENST00000321147.6_Missense_Mutation_p.D217N|DPP8_ENST00000339244.5_Missense_Mutation_p.D217N	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	217					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AATTTTGGATCCATCCGTATG	0.388																																						ENST00000341861.5																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(649-651)Gat>Aat		dipeptidyl-peptidase 8							160.0	130.0	141.0					15																	65790316		2201	4299	6500	SO:0001583	missense	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65790316C>T	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.649G>A	15.37:g.65790316C>T	ENSP00000339208:p.Asp217Asn		Somatic				DPP8_ENST00000300141.6_Missense_Mutation_p.D201N|DPP8_ENST00000358939.4_Missense_Mutation_p.D201N|DPP8_ENST00000321147.6_Missense_Mutation_p.D217N|DPP8_ENST00000321118.7_Missense_Mutation_p.D217N|DPP8_ENST00000339244.5_Missense_Mutation_p.D217N|DPP8_ENST00000559233.1_Missense_Mutation_p.D217N	p.D217N	NM_197960.2	NP_932064.1	WXS	Illumina GAIIx	Phase_I	Q6V1X1	DPP8_HUMAN			5	2229	-			217					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	37	c.649G>A	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965026	0.92855	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244;ENST00000395652	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.39	5.39	0.77823	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.52885	0.1762	L	0.53617	1.68	0.32201	N	0.577756	P;D;P;P	0.67145	0.815;0.996;0.815;0.938	P;D;P;P	0.79784	0.55;0.993;0.55;0.679	T	0.58364	-0.7649	10	0.49607	T	0.09	-13.9913	19.1645	0.93548	0.0:1.0:0.0:0.0	.	201;201;217;217	Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;DPP8_HUMAN	N	217;201;201;217;217;217;217	ENSP00000339208:D217N;ENSP00000351817:D201N;ENSP00000300141:D201N;ENSP00000318111:D217N;ENSP00000316373:D217N;ENSP00000341230:D217N;ENSP00000379013:D217N	ENSP00000300141:D201N	D	-	1	0	DPP8	63577369	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.925000	0.75829	2.506000	0.84524	0.655000	0.94253	GAT		0.388	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		3	96	0	0	0	1	0	3	96				
CLDN2	9075	broad.mit.edu	37	X	106146393	106146393	+	Intron	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:106146393G>A	ENST00000541806.1	+	1	341				RIPPLY1_ENST00000276173.4_Missense_Mutation_p.S42F|RIPPLY1_ENST00000411805.1_Missense_Mutation_p.S42F	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2						calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TTGTCCAGAGGAGAGAAGGCA	0.537																																						ENST00000276173.4																			0				lung(1)|urinary_tract(1)	2						c.(124-126)tCc>tTc		ripply transcriptional repressor 1							44.0	47.0	46.0					X																	106146393		2013	4161	6174	SO:0001627	intron_variant	92129				negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent	nucleus		g.chrX:106146393G>A	AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"""Claudins"""	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.-179+2659G>A	X.37:g.106146393G>A			Somatic				RIPPLY1_ENST00000411805.1_Missense_Mutation_p.S42F|CLDN2_ENST00000541806.1_Intron	p.S42F	NM_138382.2	NP_612391.1	WXS	Illumina GAIIx	Phase_I	Q0D2K3	RIPP1_HUMAN			1	154	-			42					B2R6B9	Missense_Mutation	SNP	ENST00000541806.1	37	c.125C>T	CCDS14524.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.744778	0.30865	.	.	ENSG00000147223	ENST00000276173;ENST00000411805	.	.	.	4.28	0.222	0.15288	.	2.739850	0.01374	N	0.012666	T	0.36635	0.0974	L	0.47716	1.5	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.003	T	0.22312	-1.0220	9	0.59425	D	0.04	.	3.3028	0.06989	0.4257:0.2099:0.3644:0.0	.	42;42	Q0D2K3-2;Q0D2K3	.;RIPP1_HUMAN	F	42	.	ENSP00000276173:S42F	S	-	2	0	RIPPLY1	106033049	0.067000	0.21026	0.001000	0.08648	0.413000	0.31143	0.427000	0.21379	-0.086000	0.12550	0.600000	0.82982	TCC		0.537	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057815.1			6	55	0	0	0	1	0	6	55				
CSNK1A1	1452	broad.mit.edu	37	5	148904736	148904736	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:148904736T>A	ENST00000377843.2	-	3	710		c.e3-2		CSNK1A1_ENST00000261798.5_Splice_Site|CSNK1A1_ENST00000515435.1_Splice_Site|CSNK1A1_ENST00000515768.1_Splice_Site|CSNK1A1_ENST00000504676.1_Splice_Site	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1						cell surface receptor signaling pathway (GO:0007166)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		CCATACCACCTAACGAAACAA	0.353																																					Colon(5;64 69 1309 10383)	ENST00000261798.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14						c.e3-2		casein kinase 1, alpha 1							52.0	50.0	51.0					5																	148904736		2133	4270	6403	SO:0001630	splice_region_variant	1452				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr5:148904736T>A	AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712			2451	protein-coding gene	gene with protein product	"""clock regulator kinase"""	600505				8050587	Standard	NM_001025105		Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000377843.2:c.231-2A>T	5.37:g.148904736T>A			Somatic				CSNK1A1_ENST00000504676.1_Splice_Site|CSNK1A1_ENST00000515435.1_Splice_Site|CSNK1A1_ENST00000515768.1_Splice_Site|CSNK1A1_ENST00000377843.2_Splice_Site		NM_001271741.1	NP_001258670.1	WXS	Illumina GAIIx	Phase_I	P48729	KC1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	3	663	-								D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q71TU5|Q96HD2|Q9UDK3	Splice_Site	SNP	ENST00000377843.2	37		CCDS47303.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.622349	0.87460	.	.	ENSG00000113712	ENST00000261798;ENST00000377843;ENST00000322237;ENST00000515768	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9698	0.80004	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSNK1A1	148884929	1.000000	0.71417	0.995000	0.50966	0.931000	0.56810	8.040000	0.89188	2.183000	0.69458	0.533000	0.62120	.		0.353	CSNK1A1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001892	Intron	3	34	0	0	0	1	0	3	34				
NOL6	65083	broad.mit.edu	37	9	33463388	33463388	+	Missense_Mutation	SNP	G	G	T	rs533529372		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:33463388G>T	ENST00000455041.2	-	23	2949	c.2890C>A	c.(2890-2892)Cct>Act	p.P964T	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000379471.2_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	1016					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ATATGGCGAGGAGACAGGCGA	0.652													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17248	0.0		0.0	False		,,,				2504	0.0					ENST00000455041.2																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(2890-2892)Cct>Act		nucleolar protein 6 (RNA-associated)							51.0	50.0	50.0					9																	33463388		2203	4300	6503	SO:0001583	missense	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33463388G>T	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000455041.2:c.2890C>A	9.37:g.33463388G>T	ENSP00000395915:p.Pro964Thr		Somatic				NOL6_ENST00000464829.1_Intron|NOL6_ENST00000379471.2_Intron	p.P964T			WXS	Illumina GAIIx	Phase_I	Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	23	2949	-			1016					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000455041.2	37	c.2890C>A		.	.	.	.	.	.	.	.	.	.	G	14.34	2.506260	0.44558	.	.	ENSG00000165271	ENST00000379470;ENST00000297990;ENST00000541373;ENST00000455041	T;T;T	0.42513	0.97;0.97;0.97	5.67	1.41	0.22369	.	0.164072	0.53938	D	0.000045	T	0.33059	0.0850	L	0.35854	1.095	0.80722	D	1	P;P;P	0.42010	0.768;0.51;0.565	B;B;B	0.42882	0.401;0.279;0.401	T	0.05835	-1.0861	10	0.30854	T	0.27	.	11.0489	0.47876	0.0676:0.3615:0.5709:0.0	.	964;1013;1016	B4DF80;Q9H6R4-4;Q9H6R4	.;.;NOL6_HUMAN	T	70;1016;572;964	ENSP00000368783:P70T;ENSP00000297990:P1016T;ENSP00000395915:P964T	ENSP00000297990:P1016T	P	-	1	0	NOL6	33453388	1.000000	0.71417	1.000000	0.80357	0.236000	0.25371	2.145000	0.42207	0.681000	0.31386	0.561000	0.74099	CCT		0.652	NOL6-201	KNOWN	basic	protein_coding	protein_coding		NM_022917		7	82	1	0	7.48243e-07	1	8.88538e-07	7	82				
OR2L2	26246	broad.mit.edu	37	1	248201694	248201694	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:248201694T>C	ENST00000366479.2	+	1	221	c.125T>C	c.(124-126)cTa>cCa	p.L42P	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATTGGAAATCTATCCATGATT	0.393																																						ENST00000366479.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(124-126)cTa>cCa		olfactory receptor, family 2, subfamily L, member 2							246.0	233.0	237.0					1																	248201694		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248201694T>C	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.125T>C	1.37:g.248201694T>C	ENSP00000355435:p.Leu42Pro		Somatic				OR2L13_ENST00000366478.2_Intron	p.L42P	NM_001004686.2	NP_001004686.1	WXS	Illumina GAIIx	Phase_I	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	221	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		42					Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.125T>C	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	12.22	1.872718	0.33069	.	.	ENSG00000203663	ENST00000366479	T	0.03035	4.07	2.09	0.815	0.18763	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.07593	0.0191	M	0.74389	2.26	0.20307	N	0.999916	P	0.46859	0.885	P	0.48901	0.594	T	0.26121	-1.0112	9	0.56958	D	0.05	.	2.7328	0.05232	0.2226:0.1493:0.0:0.6282	.	42	Q8NH16	OR2L2_HUMAN	P	42	ENSP00000355435:L42P	ENSP00000355435:L42P	L	+	2	0	OR2L2	246268317	0.000000	0.05858	0.081000	0.20488	0.313000	0.28021	0.709000	0.25734	0.842000	0.35045	0.163000	0.16589	CTA		0.393	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		6	606	0	0	0	1	0	6	606				
PTPRJ	5795	broad.mit.edu	37	11	48145387	48145387	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:48145387C>T	ENST00000418331.2	+	5	1191	c.839C>T	c.(838-840)aCa>aTa	p.T280I	PTPRJ_ENST00000440289.2_Missense_Mutation_p.T280I	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	280	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TCAAATAAGACAAAGGGAGAC	0.458																																						ENST00000418331.2																			0				breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(838-840)aCa>aTa		protein tyrosine phosphatase, receptor type, J							68.0	65.0	66.0					11																	48145387		2201	4298	6499	SO:0001583	missense	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48145387C>T	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.839C>T	11.37:g.48145387C>T	ENSP00000400010:p.Thr280Ile		Somatic				PTPRJ_ENST00000440289.2_Missense_Mutation_p.T280I	p.T280I	NM_002843.3	NP_002834.3	WXS	Illumina GAIIx	Phase_I	Q12913	PTPRJ_HUMAN			5	1191	+			280			Fibronectin type-III 2.|Fibronectin type-III 3.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	c.839C>T	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518127	0.64634	.	.	ENSG00000149177	ENST00000278456;ENST00000418331;ENST00000440289	T;T	0.38401	2.42;1.14	5.84	4.92	0.64577	Fibronectin, type III (2);	.	.	.	.	T	0.43875	0.1267	L	0.29908	0.895	0.09310	N	1	P;D	0.65815	0.948;0.995	P;P	0.59487	0.467;0.858	T	0.30031	-0.9992	9	0.59425	D	0.04	.	12.4351	0.55595	0.1782:0.8218:0.0:0.0	.	280;280	Q12913;Q6P4H4	PTPRJ_HUMAN;.	I	280	ENSP00000400010:T280I;ENSP00000409733:T280I	ENSP00000278456:T280I	T	+	2	0	PTPRJ	48101963	0.001000	0.12720	0.010000	0.14722	0.004000	0.04260	1.105000	0.31086	1.579000	0.49836	0.650000	0.86243	ACA		0.458	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			14	229	0	0	0	1	0	14	229				
ZNF780B	163131	broad.mit.edu	37	19	40540772	40540772	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:40540772C>T	ENST00000434248.1	-	5	2059	c.1994G>A	c.(1993-1995)gGt>gAt	p.G665D	ZNF780B_ENST00000221355.6_Missense_Mutation_p.G517D	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	665					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)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGGTTTTACACCAGCATGAAT	0.388																																						ENST00000434248.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(1993-1995)gGt>gAt		zinc finger protein 780B							151.0	164.0	159.0					19																	40540772		2199	4297	6496	SO:0001583	missense	163131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40540772C>T	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.1994G>A	19.37:g.40540772C>T	ENSP00000391641:p.Gly665Asp		Somatic				ZNF780B_ENST00000221355.6_Missense_Mutation_p.G517D	p.G665D	NM_001005851.2	NP_001005851.1	WXS	Illumina GAIIx	Phase_I	Q9Y6R6	Z780B_HUMAN			5	2059	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		665					B9EH00	Missense_Mutation	SNP	ENST00000434248.1	37	c.1994G>A	CCDS46077.1	.	.	.	.	.	.	.	.	.	.	c	22.1	4.250269	0.80024	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.20463	2.07;2.07	2.56	1.45	0.22620	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41442	0.1159	M	0.73753	2.245	0.32045	N	0.59775	D	0.89917	1.0	D	0.97110	1.0	T	0.48068	-0.9067	9	0.72032	D	0.01	.	7.3141	0.26491	0.0:0.8534:0.0:0.1466	.	665	Q9Y6R6	Z780B_HUMAN	D	665;517	ENSP00000391641:G665D;ENSP00000221355:G517D	ENSP00000221355:G517D	G	-	2	0	ZNF780B	45232612	0.000000	0.05858	0.017000	0.16124	0.973000	0.67179	-0.113000	0.10774	0.245000	0.21373	0.462000	0.41574	GGT		0.388	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		6	378	0	0	0	1	0	6	378				
FAM122C	159091	broad.mit.edu	37	X	133948806	133948806	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:133948806A>T	ENST00000370784.4	+	2	522	c.116A>T	c.(115-117)aAt>aTt	p.N39I	FAM122C_ENST00000414371.2_Missense_Mutation_p.N75I|FAM122C_ENST00000370785.3_Missense_Mutation_p.N39I|FAM122C_ENST00000445123.1_5'UTR	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	39										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					TTTAGTTTTAATTCACAGGTG	0.343																																						ENST00000414371.2																			0				endometrium(2)|kidney(1)|lung(2)	5						c.(223-225)aAt>aTt		family with sequence similarity 122C							75.0	74.0	74.0					X																	133948806		2203	4300	6503	SO:0001583	missense	159091							g.chrX:133948806A>T	BC017868	CCDS14644.1, CCDS55500.1, CCDS55501.1, CCDS76028.1	Xq26.3	2008-02-05	2006-07-11		ENSG00000156500	ENSG00000156500			25202	protein-coding gene	gene with protein product						12477932	Standard	NM_138819		Approved	RP3-473B4.1	uc004exz.2	Q6P4D5	OTTHUMG00000022716	ENST00000370784.4:c.116A>T	X.37:g.133948806A>T	ENSP00000359820:p.Asn39Ile		Somatic				FAM122C_ENST00000445123.1_5'UTR|FAM122C_ENST00000370785.3_Missense_Mutation_p.N39I|FAM122C_ENST00000370784.4_Missense_Mutation_p.N39I	p.N75I	NM_001170780.1|NM_001170784.1	NP_001164251.1|NP_001164255.1	WXS	Illumina GAIIx	Phase_I	Q6P4D5	F222C_HUMAN			4	397	+	Acute lymphoblastic leukemia(192;0.000127)		39					F5H036|Q8WVK9	Missense_Mutation	SNP	ENST00000370784.4	37	c.224A>T	CCDS55501.1	.	.	.	.	.	.	.	.	.	.	a	6.969	0.548762	0.13312	.	.	ENSG00000156500	ENST00000414371;ENST00000370784;ENST00000370785	T;T;T	0.56444	0.46;0.46;0.46	5.33	5.33	0.75918	.	0.150932	0.64402	D	0.000020	T	0.64821	0.2633	L	0.49778	1.585	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.76071	0.986;0.967;0.987;0.987	T	0.66654	-0.5869	10	0.59425	D	0.04	-4.9597	10.7226	0.46048	1.0:0.0:0.0:0.0	.	75;39;39;39	F5H036;Q6P4D5;Q6P4D5-2;Q6P187	.;F222C_HUMAN;.;.	I	75;39;39	ENSP00000402477:N75I;ENSP00000359820:N39I;ENSP00000359821:N39I	ENSP00000359820:N39I	N	+	2	0	FAM122C	133776472	0.997000	0.39634	0.004000	0.12327	0.044000	0.14063	1.123000	0.31308	1.800000	0.52685	0.466000	0.42574	AAT		0.343	FAM122C-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_138819		5	119	0	0	0	1	0	5	119				
SALL4	57167	broad.mit.edu	37	20	50405564	50405564	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:50405564C>A	ENST00000217086.4	-	3	2689	c.2578G>T	c.(2578-2580)Gca>Tca	p.A860S	SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Missense_Mutation_p.A83S|SALL4_ENST00000395997.3_Missense_Mutation_p.A423S	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	860					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						GGCTGGGCTGCTAACAAAGGG	0.577																																						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.(2578-2580)Gca>Tca		spalt-like transcription factor 4							55.0	50.0	51.0					20																	50405564		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50405564C>A	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.2578G>T	20.37:g.50405564C>A	ENSP00000217086:p.Ala860Ser		Somatic				SALL4_ENST00000395997.3_Missense_Mutation_p.A423S|SALL4_ENST00000371539.3_Missense_Mutation_p.A83S	p.A860S	NM_020436.3	NP_065169.1	WXS	Illumina GAIIx	Phase_I	Q9UJQ4	SALL4_HUMAN			3	2689	-			860					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.2578G>T	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	C	8.982	0.975622	0.18736	.	.	ENSG00000101115	ENST00000217086;ENST00000395997;ENST00000371539	T;T;T	0.09538	2.97;3.24;3.25	5.73	2.71	0.32032	.	0.528859	0.15949	N	0.236835	T	0.08447	0.0210	L	0.42686	1.345	0.09310	N	0.999999	B;B;B	0.33964	0.008;0.278;0.434	B;B;B	0.26202	0.002;0.057;0.067	T	0.26018	-1.0115	10	0.33940	T	0.23	-5.23	8.4011	0.32586	0.127:0.7393:0.0:0.1337	.	423;83;860	A2A2D8;Q6Y8G5;Q9UJQ4	.;.;SALL4_HUMAN	S	860;423;83	ENSP00000217086:A860S;ENSP00000379319:A423S;ENSP00000360594:A83S	ENSP00000217086:A860S	A	-	1	0	SALL4	49838971	0.000000	0.05858	0.000000	0.03702	0.498000	0.33706	0.500000	0.22562	0.333000	0.23563	0.655000	0.94253	GCA		0.577	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			11	304	1	0	3.32936e-07	1	3.9616e-07	11	304				
PNPLA7	375775	broad.mit.edu	37	9	140357192	140357192	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:140357192A>T	ENST00000277531.4	-	29	3548	c.3362T>A	c.(3361-3363)cTg>cAg	p.L1121Q	PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000406427.1_Missense_Mutation_p.L1146Q|PNPLA7_ENST00000371457.1_Missense_Mutation_p.L727Q	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1121					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CCACCCAGACAGCGCATCCCC	0.637																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(3436-3438)cTg>cAg		patatin-like phospholipase domain containing 7							171.0	123.0	139.0					9																	140357192		2203	4300	6503	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140357192A>T	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.3362T>A	9.37:g.140357192A>T	ENSP00000277531:p.Leu1121Gln		Somatic				PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000277531.4_Missense_Mutation_p.L1121Q|PNPLA7_ENST00000371457.1_Missense_Mutation_p.L727Q	p.L1146Q	NM_001098537.1	NP_001092007.1	WXS	Illumina GAIIx	Phase_I	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	30	3773	-	all_cancers(76;0.126)		1121					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.3437T>A	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.175429	0.57692	.	.	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34	4.54	4.54	0.55810	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.000000	0.64402	D	0.000002	D	0.91395	0.7285	M	0.93062	3.375	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.992;1.0;0.999;0.98	D	0.93270	0.6651	10	0.87932	D	0	-17.8996	13.3519	0.60607	1.0:0.0:0.0:0.0	.	529;1146;1121;387	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	Q	727;529;1121;1146;1121;1112	ENSP00000360512:L727Q;ENSP00000360501:L529Q;ENSP00000277531:L1121Q;ENSP00000384610:L1146Q;ENSP00000400582:L1112Q	ENSP00000277531:L1121Q	L	-	2	0	PNPLA7	139477013	1.000000	0.71417	0.671000	0.29857	0.099000	0.18886	7.302000	0.78861	1.815000	0.52974	0.448000	0.29417	CTG		0.637	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		2	4	0	0	0	1	0	2	4				
NAV2	89797	broad.mit.edu	37	11	20089905	20089905	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:20089905G>A	ENST00000396087.3	+	24	5211	c.5112G>A	c.(5110-5112)caG>caA	p.Q1704Q	NAV2_ENST00000360655.4_Silent_p.Q1584Q|NAV2_ENST00000349880.4_Silent_p.Q1648Q|NAV2_ENST00000540292.1_Silent_p.Q1635Q|NAV2_ENST00000396085.1_Silent_p.Q1648Q|NAV2_ENST00000533917.1_Silent_p.Q712Q|NAV2_ENST00000311043.8_Silent_p.Q712Q|NAV2_ENST00000527559.2_Silent_p.Q1633Q	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1704					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ATGCCTCCCAGGAGAAAGTTT	0.517																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(4942-4944)caG>caA		neuron navigator 2							103.0	102.0	102.0					11																	20089905		2203	4300	6503	SO:0001819	synonymous_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:20089905G>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5112G>A	11.37:g.20089905G>A			Somatic				NAV2_ENST00000349880.4_Silent_p.Q1648Q|NAV2_ENST00000527559.2_Silent_p.Q1633Q|NAV2_ENST00000533917.1_Silent_p.Q712Q|NAV2_ENST00000540292.1_Silent_p.Q1635Q|NAV2_ENST00000396087.3_Silent_p.Q1704Q|NAV2_ENST00000360655.4_Silent_p.Q1584Q|NAV2_ENST00000311043.8_Silent_p.Q712Q	p.Q1648Q	NM_182964.5	NP_892009.3	WXS	Illumina GAIIx	Phase_I	Q8IVL1	NAV2_HUMAN			22	5305	+			1704			Ser-rich.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	c.4944G>A	CCDS58126.1																																																																																				0.517	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		29	87	0	0	0	1	0	29	87				
LETMD1	25875	broad.mit.edu	37	12	51447559	51447559	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:51447559A>T	ENST00000262055.4	+	4	429		c.e4-1		LETMD1_ENST00000418425.2_Splice_Site|LETMD1_ENST00000380123.2_Intron|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000550929.1_Splice_Site	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1							integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						ATTTCTGCTTAGTTCCGCCAA	0.403																																						ENST00000418425.2																			0				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						c.e4-1		LETM1 domain containing 1							288.0	248.0	262.0					12																	51447559		2203	4300	6503	SO:0001630	splice_region_variant	25875					integral to membrane|mitochondrial outer membrane	protein binding	g.chr12:51447559A>T	AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"""cervical cancer 1 protooncogene"""					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.391-1A>T	12.37:g.51447559A>T			Somatic				LETMD1_ENST00000262055.4_Splice_Site|LETMD1_ENST00000550929.1_Splice_Site|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000380123.2_Intron|LETMD1_ENST00000548516.1_Intron		NM_001243689.1	NP_001230618.1	WXS	Illumina GAIIx	Phase_I	Q6P1Q0	LTMD1_HUMAN			4	448	+								A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Splice_Site	SNP	ENST00000262055.4	37		CCDS8806.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.207058	0.79127	.	.	ENSG00000050426	ENST00000551477;ENST00000550755;ENST00000550929;ENST00000262055;ENST00000548209;ENST00000550814;ENST00000418425	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5147	0.67811	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LETMD1	49733826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.747000	0.74872	2.330000	0.79161	0.528000	0.53228	.		0.403	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404710.1	NM_015416	Intron	12	969	0	0	0	1	0	12	969				
CCDC18	343099	broad.mit.edu	37	1	93691888	93691888	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:93691888A>T	ENST00000343253.7	+	17	2674		c.e17-1		CCDC18_ENST00000338949.4_Splice_Site|CCDC18_ENST00000557479.1_Splice_Site|CCDC18_ENST00000421014.2_Splice_Site|CCDC18_ENST00000334652.5_Splice_Site|CCDC18_ENST00000401026.3_Splice_Site			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18											breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TTTCCTGCTTAGGTTAGGCAA	0.299																																						ENST00000343253.7																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.e17-1		coiled-coil domain containing 18							48.0	45.0	46.0					1																	93691888		1792	4044	5836	SO:0001630	splice_region_variant	343099							g.chr1:93691888A>T			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.2173-1A>T	1.37:g.93691888A>T			Somatic				CCDC18_ENST00000338949.4_Splice_Site|CCDC18_ENST00000401026.3_Splice_Site|CCDC18_ENST00000334652.5_Splice_Site|CCDC18_ENST00000557479.1_Splice_Site|CCDC18_ENST00000421014.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	17	2674	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)						Q6ZU17	Splice_Site	SNP	ENST00000343253.7	37			.	.	.	.	.	.	.	.	.	.	A	15.47	2.842033	0.51057	.	.	ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000334652;ENST00000370276;ENST00000455267	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4215	0.75015	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC18	93464476	1.000000	0.71417	0.993000	0.49108	0.569000	0.35902	6.579000	0.74036	2.086000	0.62901	0.528000	0.53228	.		0.299	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886	Intron	4	74	0	0	0	1	0	4	74				
RASAL2	9462	broad.mit.edu	37	1	178426848	178426848	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:178426848G>A	ENST00000462775.1	+	12	2123	c.1998G>A	c.(1996-1998)caG>caA	p.Q666Q	RASAL2_ENST00000367649.3_Silent_p.Q807Q|RASAL2_ENST00000448150.3_Silent_p.Q796Q	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	666					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CTCCAAGCCAGGACAACACAG	0.408																																						ENST00000448150.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2386-2388)caG>caA		RAS protein activator like 2							86.0	79.0	81.0					1																	178426848		2203	4300	6503	SO:0001819	synonymous_variant	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178426848G>A	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.1998G>A	1.37:g.178426848G>A			Somatic				RASAL2_ENST00000462775.1_Silent_p.Q666Q|RASAL2_ENST00000367649.3_Silent_p.Q807Q	p.Q796Q	NM_170692.2	NP_733793.2	WXS	Illumina GAIIx	Phase_I	Q9UJF2	NGAP_HUMAN			14	3206	+			666					F8W755|O95174|Q2TB22|Q5TFU9	Silent	SNP	ENST00000462775.1	37	c.2388G>A	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	G	3.827	-0.036648	0.07497	.	.	ENSG00000075391	ENST00000433130	.	.	.	5.4	2.51	0.30379	.	.	.	.	.	T	0.51890	0.1701	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42965	-0.9420	4	.	.	.	.	4.7851	0.13222	0.2893:0.0:0.5685:0.1422	.	.	.	.	R	217	.	.	G	+	1	0	RASAL2	176693471	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.513000	0.22770	0.770000	0.33336	-0.137000	0.14449	GGA		0.408	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		6	91	0	0	0	1	0	6	91				
RET	5979	broad.mit.edu	37	10	43604483	43604483	+	Silent	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:43604483G>T	ENST00000355710.3	+	6	1300	c.1068G>T	c.(1066-1068)ctG>ctT	p.L356L	RET_ENST00000340058.5_Silent_p.L356L	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	356					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CTGCAGGGCTGGTTCTCAACC	0.602		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(1066-1068)ctG>ctT		ret proto-oncogene	Sunitinib(DB01268)						83.0	70.0	74.0					10																	43604483		2203	4300	6503	SO:0001819	synonymous_variant	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43604483G>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1068G>T	10.37:g.43604483G>T			Somatic				RET_ENST00000340058.5_Silent_p.L356L	p.L356L	NM_020975.4	NP_066124.1	WXS	Illumina GAIIx	Phase_I	P07949	RET_HUMAN			6	1300	+		Ovarian(717;0.0423)	356					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	c.1068G>T	CCDS7200.1																																																																																				0.602	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		13	73	1	0	4.93089e-13	1	6.29999e-13	13	73				
KCNMA1	3778	broad.mit.edu	37	10	78674724	78674724	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:78674724C>T	ENST00000286628.8	-	24	2985	c.2986G>A	c.(2986-2988)Ggg>Agg	p.G996R	RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.G938R|KCNMA1_ENST00000406533.3_Missense_Mutation_p.G1000R|KCNMA1_ENST00000286627.5_Missense_Mutation_p.G938R|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.G938R|KCNMA1_ENST00000404857.1_Missense_Mutation_p.G979R|KCNMA1_ENST00000354353.5_Missense_Mutation_p.G999R|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.G996R	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	996					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	ATGTTGACCCCAGTTGTGATG	0.488																																						ENST00000286627.5																			0				breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(2812-2814)Ggg>Agg		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						301.0	270.0	281.0					10																	78674724		2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78674724C>T	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.2986G>A	10.37:g.78674724C>T	ENSP00000286628:p.Gly996Arg		Somatic				KCNMA1_ENST00000354353.5_Missense_Mutation_p.G999R|KCNMA1_ENST00000372440.1_Missense_Mutation_p.G938R|KCNMA1_ENST00000406533.3_Missense_Mutation_p.G1000R|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.G979R|KCNMA1_ENST00000372443.1_Missense_Mutation_p.G938R|KCNMA1_ENST00000286628.8_Missense_Mutation_p.G996R|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.G996R	p.G938R	NM_002247.3	NP_002238.2	WXS	Illumina GAIIx	Phase_I	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		23	3764	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		996					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.2812G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.239779|5.239779	0.95240|0.95240	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372421;ENST00000434208	T;T;T;T;T;T;T;T;T|.	0.62941|.	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01|.	6.02|6.02	6.02|6.02	0.97574|0.97574	NAD(P)-binding domain (1);|.	0.045665|.	0.85682|.	D|.	0.000000|.	T|.	0.78317|.	0.4264|.	M|M	0.74647|0.74647	2.275|2.275	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;0.999;1.0;1.0;1.0;0.999;1.0;0.999|.	D;D;D;D;D;D;D;D|.	0.97110|.	1.0;0.99;0.996;1.0;0.996;0.99;0.993;0.969|.	T|.	0.75731|.	-0.3215|.	10|.	0.87932|.	D|.	0|.	-11.7933|-11.7933	20.5269|20.5269	0.99230|0.99230	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	967;941;979;996;938;749;999;938|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.	R|X	938;875;931;970;933;938;938;970;1000;999;979;749|926;645	ENSP00000361517:G938R;ENSP00000361485:G875R;ENSP00000361514:G931R;ENSP00000396608:G970R;ENSP00000361520:G938R;ENSP00000286627:G938R;ENSP00000385552:G1000R;ENSP00000346321:G999R;ENSP00000385806:G979R|.	ENSP00000286627:G938R|.	G|W	-|-	1|2	0|0	KCNMA1|KCNMA1	78344730|78344730	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.975000|0.975000	0.68041|0.68041	7.442000|7.442000	0.80503|0.80503	2.859000|2.859000	0.98148|0.98148	0.591000|0.591000	0.81541|0.81541	GGG|TGG		0.488	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		15	936	0	0	0	1	0	15	936				
PKD2L1	9033	broad.mit.edu	37	10	102058505	102058505	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:102058505T>C	ENST00000318222.3	-	4	927	c.545A>G	c.(544-546)cAt>cGt	p.H182R	PKD2L1_ENST00000338519.3_Missense_Mutation_p.H182R|PKD2L1_ENST00000353274.3_Missense_Mutation_p.H182R	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	182					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GTGGGAGCCATGGCCCAGGCT	0.547																																						ENST00000318222.3																			0				NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(544-546)cAt>cGt		polycystic kidney disease 2-like 1							78.0	79.0	79.0					10																	102058505		2203	4300	6503	SO:0001583	missense	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102058505T>C	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.545A>G	10.37:g.102058505T>C	ENSP00000325296:p.His182Arg		Somatic				PKD2L1_ENST00000338519.3_Missense_Mutation_p.H182R|PKD2L1_ENST00000353274.3_Missense_Mutation_p.H182R	p.H182R	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	WXS	Illumina GAIIx	Phase_I	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	4	927	-		Colorectal(252;0.117)	182					O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	c.545A>G	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	T	8.843	0.942698	0.18281	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.68624	-0.34;-0.34;-0.34	5.43	0.427	0.16489	Polycystin cation channel, PKD1/PKD2 (1);	0.820455	0.11455	N	0.562419	T	0.51736	0.1692	L	0.40543	1.245	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.12837	0.003;0.008	T	0.34229	-0.9837	10	0.10902	T	0.67	0.0385	9.4619	0.38789	0.0:0.253:0.0:0.747	.	135;182	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	R	182	ENSP00000345068:H182R;ENSP00000266049:H182R;ENSP00000325296:H182R	ENSP00000325296:H182R	H	-	2	0	PKD2L1	102048495	0.000000	0.05858	0.014000	0.15608	0.953000	0.61014	-0.229000	0.09098	-0.159000	0.11021	0.459000	0.35465	CAT		0.547	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		9	164	0	0	0	1	0	9	164				
ABCC1	4363	broad.mit.edu	37	16	16162137	16162137	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:16162137T>C	ENST00000399410.3	+	13	1977	c.1802T>C	c.(1801-1803)aTg>aCg	p.M601T	ABCC1_ENST00000345148.5_Missense_Mutation_p.M601T|ABCC1_ENST00000351154.5_Missense_Mutation_p.M601T|ABCC1_ENST00000346370.5_Missense_Mutation_p.M601T|ABCC1_ENST00000399408.2_Missense_Mutation_p.M601T|ABCC1_ENST00000349029.5_Missense_Mutation_p.M601T	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	601	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)	ATTCTCCCCATGGTCATCAGC	0.577																																						ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(1801-1803)aTg>aCg		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						186.0	171.0	175.0					16																	16162137		2054	4195	6249	SO:0001583	missense	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.chr16:16162137T>C	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.1802T>C	16.37:g.16162137T>C	ENSP00000382342:p.Met601Thr		Somatic				ABCC1_ENST00000399410.3_Missense_Mutation_p.M601T|ABCC1_ENST00000349029.5_Missense_Mutation_p.M601T|ABCC1_ENST00000346370.5_Missense_Mutation_p.M601T|ABCC1_ENST00000351154.5_Missense_Mutation_p.M601T|ABCC1_ENST00000345148.5_Missense_Mutation_p.M601T	p.M601T			WXS	Illumina GAIIx	Phase_I	P33527	MRP1_HUMAN			13	1977	+			601			ABC transmembrane type-1 1.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.1802T>C	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	T	19.81	3.897479	0.72639	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23	4.61	4.61	0.57282	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.078123	0.85682	D	0.000000	T	0.29423	0.0733	L	0.31926	0.97	0.58432	D	0.999993	D;B;B;D;B;B	0.63046	0.992;0.409;0.38;0.983;0.159;0.246	D;B;B;P;B;B	0.71656	0.974;0.139;0.197;0.79;0.14;0.272	T	0.03325	-1.1048	10	0.72032	D	0.01	-38.181	12.8427	0.57813	0.0:0.0:0.0:1.0	.	601;601;601;601;601;601	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	T	601;601;601;601;601;601;275	ENSP00000382342:M601T;ENSP00000382340:M601T;ENSP00000263019:M601T;ENSP00000263017:M601T;ENSP00000263014:M601T;ENSP00000263016:M601T	ENSP00000263014:M601T	M	+	2	0	ABCC1	16069638	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.790000	0.62453	1.714000	0.51371	0.379000	0.24179	ATG		0.577	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		7	499	0	0	0	1	0	7	499				
RAB2B	84932	broad.mit.edu	37	14	21931904	21931904	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:21931904C>T	ENST00000397762.1	-	6	485	c.385G>A	c.(385-387)Gtg>Atg	p.V129M	RAB2B_ENST00000461909.1_5'UTR	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family	129					positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		TCTCTCTTCACATCCCTGCGG	0.398																																					Melanoma(131;1007 1750 28652 34486 42672)	ENST00000397762.1																			0				NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6						c.(385-387)Gtg>Atg		RAB2B, member RAS oncogene family							121.0	111.0	114.0					14																	21931904		2203	4300	6503	SO:0001583	missense	84932				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|plasma membrane	GTP binding	g.chr14:21931904C>T	AK027730	CCDS9570.1	14q11.1	2006-12-18			ENSG00000129472	ENSG00000129472		"""RAB, member RAS oncogene"""	20246	protein-coding gene	gene with protein product		607466				12376746	Standard	NM_032846		Approved	FLJ14824	uc010tlt.2	Q8WUD1	OTTHUMG00000029693	ENST00000397762.1:c.385G>A	14.37:g.21931904C>T	ENSP00000380869:p.Val129Met		Somatic				RAB2B_ENST00000461909.1_5'UTR	p.V129M	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	WXS	Illumina GAIIx	Phase_I	Q8WUD1	RAB2B_HUMAN	Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)	6	485	-	all_cancers(95;0.000858)		129					B2RD03|D3DS24|Q6NZ33	Missense_Mutation	SNP	ENST00000397762.1	37	c.385G>A	CCDS9570.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619799	0.87460	.	.	ENSG00000129472	ENST00000397762;ENST00000304034	D	0.83914	-1.78	5.86	4.98	0.66077	Small GTP-binding protein domain (1);	0.104741	0.41001	D	0.000969	D	0.93494	0.7924	H	0.95574	3.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.95069	0.8202	10	0.87932	D	0	.	14.0368	0.64649	0.0:0.9262:0.0:0.0738	.	129;83;64	Q8WUD1;B4DUD4;Q6NZ33	RAB2B_HUMAN;.;.	M	129	ENSP00000380869:V129M	ENSP00000302005:V129M	V	-	1	0	RAB2B	21001744	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.549000	0.67261	1.483000	0.48342	0.655000	0.94253	GTG		0.398	RAB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074053.4			4	112	0	0	0	1	0	4	112				
ASTN1	460	broad.mit.edu	37	1	176983950	176983950	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:176983950C>T	ENST00000367654.3	-	8	1735	c.1524G>A	c.(1522-1524)cgG>cgA	p.R508R	ASTN1_ENST00000367657.3_Silent_p.R500R|ASTN1_ENST00000361833.2_Silent_p.R500R|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.R500R	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	508					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.R500R(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCCATTCGTTCCGAATGCAAA	0.488																																						ENST00000367654.2																			1	Substitution - coding silent(1)	p.R500R(1)	breast(1)	NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(1522-1524)cgG>cgA		astrotactin 1							484.0	416.0	439.0					1																	176983950		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176983950C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1524G>A	1.37:g.176983950C>T			Somatic				ASTN1_ENST00000367657.3_Silent_p.R500R|ASTN1_ENST00000361833.2_Silent_p.R500R|ASTN1_ENST00000424564.2_Silent_p.R500R|ASTN1_ENST00000281881.3_5'UTR	p.R508R			WXS	Illumina GAIIx	Phase_I	O14525	ASTN1_HUMAN			8	1537	-			508					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.1524G>A																																																																																					0.488	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		19	2169	0	0	0	1	0	19	2169				
KRT84	3890	broad.mit.edu	37	12	52779044	52779044	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:52779044G>T	ENST00000257951.3	-	1	392	c.326C>A	c.(325-327)gCt>gAt	p.A109D	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	109	Head.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCACTGCCAGCTCCAAAGCC	0.587																																						ENST00000257951.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27						c.(325-327)gCt>gAt		keratin 84							184.0	172.0	176.0					12																	52779044		2203	4300	6503	SO:0001583	missense	3890					keratin filament	structural constituent of epidermis	g.chr12:52779044G>T	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.326C>A	12.37:g.52779044G>T	ENSP00000257951:p.Ala109Asp		Somatic				RP3-416H24.4_ENST00000547174.1_RNA	p.A109D	NM_033045.3	NP_149034.2	WXS	Illumina GAIIx	Phase_I	Q9NSB2	KRT84_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	392	-	all_hematologic(5;0.12)		109			Head.		B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	c.326C>A	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	G	9.533	1.111236	0.20714	.	.	ENSG00000161849	ENST00000257951	T	0.80994	-1.44	5.01	0.819	0.18785	.	0.424250	0.20257	N	0.095955	T	0.62950	0.2470	L	0.27053	0.805	0.09310	N	1	B	0.31125	0.309	B	0.24541	0.054	T	0.55860	-0.8074	10	0.66056	D	0.02	.	5.5603	0.17140	0.3159:0.3465:0.3376:0.0	.	109	Q9NSB2	KRT84_HUMAN	D	109	ENSP00000257951:A109D	ENSP00000257951:A109D	A	-	2	0	KRT84	51065311	0.033000	0.19621	0.005000	0.12908	0.092000	0.18411	0.489000	0.22387	0.366000	0.24427	0.609000	0.83330	GCT		0.587	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		3	63	1	0	0.004672	1	0.0050124	3	63				
OCA2	4948	broad.mit.edu	37	15	28230277	28230277	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:28230277C>T	ENST00000354638.3	-	13	1452	c.1297G>A	c.(1297-1299)Gcg>Acg	p.A433T	OCA2_ENST00000353809.5_Missense_Mutation_p.A409T|OCA2_ENST00000382996.2_Missense_Mutation_p.A433T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	433					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGGACGGCCGCGATGAGACAG	0.597									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(1297-1299)Gcg>Acg		oculocutaneous albinism II							152.0	106.0	122.0					15																	28230277		2203	4300	6503	SO:0001583	missense	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28230277C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1297G>A	15.37:g.28230277C>T	ENSP00000346659:p.Ala433Thr		Somatic				OCA2_ENST00000353809.5_Missense_Mutation_p.A409T|OCA2_ENST00000382996.2_Missense_Mutation_p.A433T	p.A433T	NM_000275.2	NP_000266.2	WXS	Illumina GAIIx	Phase_I	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	13	1452	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	433					Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.1297G>A	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797073	0.31777	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.90900	-2.75;-2.75;-2.75	5.2	5.2	0.72013	Divalent ion symporter (1);	0.000000	0.85682	D	0.000000	T	0.80121	0.4565	N	0.00815	-1.16	0.53688	D	0.999974	P;P	0.46277	0.525;0.875	B;P	0.52217	0.072;0.693	T	0.80197	-0.1482	10	0.02654	T	1	-11.1821	18.0938	0.89482	0.0:1.0:0.0:0.0	.	409;433	Q04671-2;Q04671	.;P_HUMAN	T	433;409;433	ENSP00000346659:A433T;ENSP00000261276:A409T;ENSP00000372457:A433T	ENSP00000261276:A409T	A	-	1	0	OCA2	25903872	1.000000	0.71417	0.749000	0.31150	0.460000	0.32559	7.083000	0.76859	2.576000	0.86940	0.655000	0.94253	GCG		0.597	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		87	226	0	0	0	1	0	87	226				
TEX264	51368	broad.mit.edu	37	3	51708285	51708285	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:51708285A>T	ENST00000415259.1	+	2	1047		c.e2-1		TEX264_ENST00000416589.1_Splice_Site|TEX264_ENST00000395057.1_Splice_Site|TEX264_ENST00000341333.5_Splice_Site|TEX264_ENST00000457573.1_Splice_Site			Q9Y6I9	TX264_HUMAN	testis expressed 264							extracellular vesicular exosome (GO:0070062)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		TCTCCTTTGCAGCTGCCTTGA	0.587																																						ENST00000415259.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7						c.e2-1		testis expressed 264							50.0	53.0	52.0					3																	51708285		2202	4300	6502	SO:0001630	splice_region_variant	51368					extracellular region		g.chr3:51708285A>T	AF072733	CCDS2833.1, CCDS74945.1	3p21	2007-03-13	2007-03-13		ENSG00000164081	ENSG00000164081			30247	protein-coding gene	gene with protein product			"""testis expressed gene 264"", ""testis expressed sequence 264"""			12975309	Standard	NM_001243725		Approved	ZSIG11, FLJ13935	uc003dbm.4	Q9Y6I9	OTTHUMG00000156901	ENST00000415259.1:c.-34-1A>T	3.37:g.51708285A>T			Somatic				TEX264_ENST00000341333.5_Splice_Site|TEX264_ENST00000457573.1_Splice_Site|TEX264_ENST00000395057.1_Splice_Site|TEX264_ENST00000416589.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9Y6I9	TX264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)	2	1047	+								B3KN87|Q9UKD7	Splice_Site	SNP	ENST00000415259.1	37		CCDS2833.1																																																																																				0.587	TEX264-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346530.1	NM_015926	Intron	5	49	0	0	0	1	0	5	49				
ZHX2	22882	broad.mit.edu	37	8	123964520	123964520	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:123964520A>G	ENST00000314393.4	+	3	1605	c.770A>G	c.(769-771)aAg>aGg	p.K257R		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	257	Required for homodimerization.				mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CTTGTGCCCAAGGTCCCTGTC	0.507																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(769-771)aAg>aGg		zinc fingers and homeoboxes 2							163.0	172.0	169.0					8																	123964520		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123964520A>G	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.770A>G	8.37:g.123964520A>G	ENSP00000314709:p.Lys257Arg		Somatic					p.K257R	NM_014943.3	NP_055758.1	WXS	Illumina GAIIx	Phase_I	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	1605	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		257			Required for homodimerization.			Missense_Mutation	SNP	ENST00000314393.4	37	c.770A>G	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	A	19.41	3.821794	0.71028	.	.	ENSG00000178764	ENST00000314393	T	0.28666	1.6	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.57975	0.2090	M	0.79475	2.455	0.58432	D	0.99999	D	0.89917	1.0	D	0.83275	0.996	T	0.59075	-0.7522	10	0.46703	T	0.11	-28.1146	16.3817	0.83467	1.0:0.0:0.0:0.0	.	257	Q9Y6X8	ZHX2_HUMAN	R	257	ENSP00000314709:K257R	ENSP00000314709:K257R	K	+	2	0	ZHX2	124033701	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	8.918000	0.92759	2.276000	0.75962	0.454000	0.30748	AAG		0.507	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		5	447	0	0	0	1	0	5	447				
FCGBP	8857	broad.mit.edu	37	19	40433988	40433988	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:40433988G>A	ENST00000221347.6	-	2	288	c.281C>T	c.(280-282)gCc>gTc	p.A94V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	94	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTCAGCCTTGGCACTGATGTT	0.547																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(280-282)gCc>gTc		Fc fragment of IgG binding protein							146.0	117.0	127.0					19																	40433988		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40433988G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.281C>T	19.37:g.40433988G>A	ENSP00000221347:p.Ala94Val		Somatic					p.A94V	NM_003890.2	NP_003881.2	WXS	Illumina GAIIx	Phase_I	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	288	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		94			IgGFc-binding.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.281C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	5.682	0.310402	0.10733	.	.	ENSG00000090920	ENST00000221347	T	0.19250	2.16	4.7	2.43	0.29744	.	1.165440	0.06575	N	0.749335	T	0.11410	0.0278	N	0.12182	0.205	0.09310	N	1	P	0.35077	0.483	B	0.25140	0.058	T	0.25641	-1.0126	10	0.49607	T	0.09	.	8.18	0.31305	0.084:0.3057:0.6103:0.0	.	94	Q9Y6R7	FCGBP_HUMAN	V	94	ENSP00000221347:A94V	ENSP00000221347:A94V	A	-	2	0	FCGBP	45125828	0.000000	0.05858	0.165000	0.22776	0.038000	0.13279	0.785000	0.26830	0.610000	0.30035	-0.176000	0.13171	GCC		0.547	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		8	347	0	0	0	1	0	8	347				
MTX2	10651	broad.mit.edu	37	2	177202251	177202251	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:177202251C>T	ENST00000249442.6	+	10	862	c.651C>T	c.(649-651)ggC>ggT	p.G217G	MTX2_ENST00000443241.1_Silent_p.G161G|MTX2_ENST00000392529.2_Silent_p.G207G	NM_006554.4	NP_006545.1	O75431	MTX2_HUMAN	metaxin 2	217					cellular protein metabolic process (GO:0044267)|mitochondrial transport (GO:0006839)|protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane (GO:0005741)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			TGGTATTTGGCCATCTATACA	0.378																																						ENST00000392529.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(619-621)ggC>ggT		metaxin 2							195.0	182.0	187.0					2																	177202251		2203	4300	6503	SO:0001819	synonymous_variant	10651				protein targeting to mitochondrion	mitochondrial outer membrane		g.chr2:177202251C>T	AF053551	CCDS2272.1	2q31.1	2012-02-07			ENSG00000128654	ENSG00000128654			7506	protein-coding gene	gene with protein product		608555				10381257, 17624330	Standard	NM_006554		Approved		uc002ukx.3	O75431	OTTHUMG00000132514	ENST00000249442.6:c.651C>T	2.37:g.177202251C>T			Somatic				MTX2_ENST00000249442.6_Silent_p.G217G|MTX2_ENST00000443241.1_Silent_p.G161G	p.G207G			WXS	Illumina GAIIx	Phase_I	O75431	MTX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)		11	1026	+			217					A8JZZ4|Q53S50|Q53SQ2|Q5M7Z6|Q8IZ68	Silent	SNP	ENST00000249442.6	37	c.621C>T	CCDS2272.1																																																																																				0.378	MTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255695.4	NM_006554		5	189	0	0	0	1	0	5	189				
PRCP	5547	broad.mit.edu	37	11	82611312	82611312	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:82611312C>T	ENST00000313010.3	-	1	327	c.133G>A	c.(133-135)Gcc>Acc	p.A45T	C11orf82_ENST00000525361.1_5'Flank|C11orf82_ENST00000533655.1_5'Flank|C11orf82_ENST00000525388.1_5'Flank|PRCP_ENST00000393399.2_Missense_Mutation_p.A45T|PRCP_ENST00000535099.1_Intron|C11orf82_ENST00000528759.1_5'Flank|C11orf82_ENST00000430323.2_5'Flank|C11orf82_ENST00000524921.1_5'Flank	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	45					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TAGTTCTTGGCTACAGCCGGG	0.647																																						ENST00000313010.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(133-135)Gcc>Acc		prolylcarboxypeptidase (angiotensinase C)							72.0	82.0	79.0					11																	82611312		2203	4300	6503	SO:0001583	missense	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82611312C>T	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.133G>A	11.37:g.82611312C>T	ENSP00000317362:p.Ala45Thr		Somatic				PRCP_ENST00000393399.2_Missense_Mutation_p.A45T|PRCP_ENST00000535099.1_Intron	p.A45T	NM_005040.2	NP_005031.1	WXS	Illumina GAIIx	Phase_I	P42785	PCP_HUMAN			1	327	-			45					A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	ENST00000313010.3	37	c.133G>A	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019441	0.35606	.	.	ENSG00000137509	ENST00000313010;ENST00000393399	T;T	0.16196	2.49;2.36	3.91	-1.69	0.08186	.	1.585210	0.03687	N	0.246492	T	0.08358	0.0208	N	0.08118	0	0.09310	N	0.999996	B;B	0.14438	0.01;0.004	B;B	0.10450	0.005;0.001	T	0.30765	-0.9967	9	.	.	.	6.9787	5.8696	0.18797	0.0:0.3274:0.4756:0.1971	.	45;45	P42785;A8MU24	PCP_HUMAN;.	T	45	ENSP00000317362:A45T;ENSP00000377055:A45T	.	A	-	1	0	PRCP	82288960	0.000000	0.05858	0.000000	0.03702	0.239000	0.25481	-0.297000	0.08276	-0.295000	0.08960	0.557000	0.71058	GCC		0.647	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040		3	145	0	0	0	1	0	3	145				
TICRR	90381	broad.mit.edu	37	15	90125915	90125915	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:90125915A>T	ENST00000268138.7	+	2	759		c.e2-1		RP11-429B14.3_ENST00000560477.1_RNA|TICRR_ENST00000560985.1_Splice_Site|RP11-429B14.1_ENST00000559041.1_RNA			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator						cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GTTTTATTTTAGTTGTGGGAA	0.398																																						ENST00000268138.7																			0											c.e2-1		TOPBP1-interacting checkpoint and replication regulator							97.0	93.0	94.0					15																	90125915		1851	4109	5960	SO:0001630	splice_region_variant	90381							g.chr15:90125915A>T	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.655-1A>T	15.37:g.90125915A>T			Somatic				TICRR_ENST00000560985.1_Splice_Site|RP11-429B14.1_ENST00000559041.1_RNA				WXS	Illumina GAIIx	Phase_I					2	759	+								B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Splice_Site	SNP	ENST00000268138.7	37		CCDS10352.2	.	.	.	.	.	.	.	.	.	.	A	15.14	2.743958	0.49151	.	.	ENSG00000140534	ENST00000268138	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7855	0.78300	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C15orf42	87926919	1.000000	0.71417	0.813000	0.32504	0.536000	0.34869	6.113000	0.71553	2.193000	0.70182	0.402000	0.26972	.		0.398	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259	Intron	6	198	0	0	0	1	0	6	198				
SLC35F1	222553	broad.mit.edu	37	6	118635189	118635189	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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	4	58	0	0	0	1	0	4	58				
ZADH2	284273	broad.mit.edu	37	18	72914297	72914297	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:72914297T>A	ENST00000322342.3	-	2	499		c.e2-2		ZADH2_ENST00000537114.2_Splice_Site	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2							mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		CCAACAAATCTAAAAGAAAAC	0.428																																						ENST00000322342.3																			0				endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15						c.e2-2		zinc binding alcohol dehydrogenase domain containing 2							47.0	46.0	46.0					18																	72914297		2203	4300	6503	SO:0001630	splice_region_variant	284273					peroxisome	oxidoreductase activity|zinc ion binding	g.chr18:72914297T>A	BC033780	CCDS12008.1	18q22.3	2008-05-29	2008-05-29		ENSG00000180011	ENSG00000180011			28697	protein-coding gene	gene with protein product						12477932	Standard	NM_175907		Approved	MGC45594	uc002llx.3	Q8N4Q0	OTTHUMG00000132858	ENST00000322342.3:c.210-2A>T	18.37:g.72914297T>A			Somatic				ZADH2_ENST00000537114.2_Splice_Site		NM_175907.4	NP_787103.1	WXS	Illumina GAIIx	Phase_I	Q8N4Q0	ZADH2_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)	2	499	-		Esophageal squamous(42;0.131)|Prostate(75;0.155)						A8KA15|B4DZ91	Splice_Site	SNP	ENST00000322342.3	37		CCDS12008.1	.	.	.	.	.	.	.	.	.	.	T	18.04	3.533999	0.64972	.	.	ENSG00000180011	ENST00000322342	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0442	0.64695	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZADH2	71043285	1.000000	0.71417	0.975000	0.42487	0.877000	0.50540	7.817000	0.86213	0.893000	0.36288	0.529000	0.55759	.		0.428	ZADH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256332.1	NM_175907	Intron	10	324	0	0	0	1	0	10	324				
CADM4	199731	broad.mit.edu	37	19	44131001	44131001	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:44131001C>T	ENST00000222374.2	-	4	482	c.434G>A	c.(433-435)tGc>tAc	p.C145Y	CADM4_ENST00000593506.1_5'Flank	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	145	Ig-like C2-type 1.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				CGGAACGAGGCAGCTGAGCTC	0.672																																						ENST00000222374.2																			0				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12						c.(433-435)tGc>tAc		cell adhesion molecule 4							41.0	46.0	44.0					19																	44131001		2201	4299	6500	SO:0001583	missense	199731				cell adhesion	integral to membrane		g.chr19:44131001C>T	AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30825	protein-coding gene	gene with protein product	"""nectin-like 4"""	609744	"""immunoglobulin superfamily, member 4C"""	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.434G>A	19.37:g.44131001C>T	ENSP00000222374:p.Cys145Tyr		Somatic					p.C145Y	NM_145296.1	NP_660339.1	WXS	Illumina GAIIx	Phase_I	Q8NFZ8	CADM4_HUMAN			4	482	-		Prostate(69;0.0199)	145			Ig-like C2-type 1.		B2R7L5|Q9Y4A4	Missense_Mutation	SNP	ENST00000222374.2	37	c.434G>A	CCDS12627.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480204	0.84747	.	.	ENSG00000105767	ENST00000222374	D	0.99445	-5.91	5.48	5.48	0.80851	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99597	0.9854	M	0.90759	3.145	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.98066	1.0396	10	0.87932	D	0	.	16.8373	0.85960	0.0:1.0:0.0:0.0	.	145	Q8NFZ8	CADM4_HUMAN	Y	145	ENSP00000222374:C145Y	ENSP00000222374:C145Y	C	-	2	0	CADM4	48822841	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	4.564000	0.60830	2.560000	0.86352	0.591000	0.81541	TGC		0.672	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463352.1	NM_145296		3	41	0	0	0	1	0	3	41				
EIF3L	51386	broad.mit.edu	37	22	38247400	38247400	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:38247400T>C	ENST00000412331.2	+	3	778	c.196T>C	c.(196-198)Ttg>Ctg	p.L66L	ANKRD54_ENST00000609454.1_5'Flank|EIF3L_ENST00000476955.1_3'UTR|EIF3L_ENST00000406934.1_5'UTR|EIF3L_ENST00000381683.6_Silent_p.L66L	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGTCTCAGATTTGATTGACCA	0.438																																						ENST00000412331.2																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(196-198)Ttg>Ctg		eukaryotic translation initiation factor 3, subunit L							92.0	85.0	87.0					22																	38247400		2203	4300	6503	SO:0001819	synonymous_variant	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38247400T>C	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.196T>C	22.37:g.38247400T>C			Somatic				EIF3L_ENST00000406934.1_5'UTR|EIF3L_ENST00000381683.6_Silent_p.L66L|EIF3L_ENST00000476955.1_3'UTR	p.L66L	NM_016091.3	NP_057175.1	WXS	Illumina GAIIx	Phase_I	Q9Y262	EIF3L_HUMAN			3	778	+			66						Silent	SNP	ENST00000412331.2	37	c.196T>C	CCDS13960.1																																																																																				0.438	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		4	135	0	0	0	0.009096	0	4	135				
BLK	640	broad.mit.edu	37	8	11412980	11412980	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:11412980C>A	ENST00000259089.4	+	8	1351	c.759C>A	c.(757-759)ggC>ggA	p.G253G	RP11-148O21.2_ENST00000533322.1_RNA|RP11-148O21.4_ENST00000528629.1_RNA|RP11-148O21.3_ENST00000527922.1_RNA|BLK_ENST00000529894.1_Silent_p.G182G|RP11-148O21.6_ENST00000602626.1_lincRNA	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		GACAATTCGGCGAAGTCTGGA	0.607																																						ENST00000259089.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27						c.(757-759)ggC>ggA		B lymphoid tyrosine kinase							108.0	109.0	109.0					8																	11412980		2203	4300	6503	SO:0001819	synonymous_variant	640				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:11412980C>A	BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"""SH2 domain containing"""	1057	protein-coding gene	gene with protein product		191305	"""B lymphoid tyrosine kinase"""			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.759C>A	8.37:g.11412980C>A			Somatic				BLK_ENST00000529894.1_Silent_p.G182G	p.G253G	NM_001715.2	NP_001706.2	WXS	Illumina GAIIx	Phase_I	P51451	BLK_HUMAN	STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)	8	1351	+			253			Protein kinase.		Q16291|Q96IN1	Silent	SNP	ENST00000259089.4	37	c.759C>A	CCDS5982.1																																																																																				0.607	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1			34	87	1	0	1.22384e-17	0.054565	2.1139e-17	34	87				
GREB1	9687	broad.mit.edu	37	2	11774455	11774455	+	Silent	SNP	C	C	T	rs368127534		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:11774455C>T	ENST00000381486.2	+	29	5490	c.5190C>T	c.(5188-5190)aaC>aaT	p.N1730N	GREB1_ENST00000234142.5_Silent_p.N1730N|GREB1_ENST00000396123.1_Silent_p.N728N	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1730						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TGACCCAGAACGTGCAGTACA	0.657																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(5188-5190)aaC>aaT		growth regulation by estrogen in breast cancer 1							35.0	37.0	36.0					2																	11774455		2100	4232	6332	SO:0001819	synonymous_variant	9687					integral to membrane		g.chr2:11774455C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.5190C>T	2.37:g.11774455C>T			Somatic				GREB1_ENST00000234142.5_Silent_p.N1730N|GREB1_ENST00000396123.1_Silent_p.N728N	p.N1730N	NM_014668.3	NP_055483.2	WXS	Illumina GAIIx	Phase_I	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	29	5490	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1730					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	c.5190C>T	CCDS42655.1																																																																																				0.657	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		5	33	0	0	0	0.014758	0	5	33				
MTCL1	23255	broad.mit.edu	37	18	8825455	8825455	+	Missense_Mutation	SNP	C	C	A	rs375774425		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:8825455C>A	ENST00000306329.11	+	13	4904	c.4904C>A	c.(4903-4905)aCg>aAg	p.T1635K	SOGA2_ENST00000517570.1_Missense_Mutation_p.T1275K|SOGA2_ENST00000400050.3_Missense_Mutation_p.T1275K|SOGA2_ENST00000306285.7_Missense_Mutation_p.T641K|SOGA2_ENST00000518815.1_Missense_Mutation_p.T641K|SOGA2_ENST00000359865.3_Missense_Mutation_p.T1316K																							GGGTCCCGGACGATGGGGACC	0.612																																						ENST00000359865.3																			0											c.(3946-3948)aCg>aAg		SOGA family member 2							34.0	34.0	34.0					18																	8825455		2203	4299	6502	SO:0001583	missense	23255							g.chr18:8825455C>A																												ENST00000306329.11:c.4904C>A	18.37:g.8825455C>A	ENSP00000305027:p.Thr1635Lys		Somatic				SOGA2_ENST00000518815.1_Missense_Mutation_p.T641K|SOGA2_ENST00000306285.7_Missense_Mutation_p.T641K|SOGA2_ENST00000306329.11_Missense_Mutation_p.T1635K|SOGA2_ENST00000517570.1_Missense_Mutation_p.T1275K|SOGA2_ENST00000400050.3_Missense_Mutation_p.T1275K	p.T1316K	NM_015210.3	NP_056025.2	WXS	Illumina GAIIx	Phase_I	Q9Y4B5	CC165_HUMAN			15	4089	+			1626						Missense_Mutation	SNP	ENST00000306329.11	37	c.3947C>A		.	.	.	.	.	.	.	.	.	.	C	15.46	2.840397	0.51057	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.24	5.24	0.73138	.	0.285078	0.25490	N	0.030303	T	0.49270	0.1547	M	0.62723	1.935	0.41003	D	0.984943	D;D	0.69078	0.988;0.997	P;P	0.61132	0.753;0.884	T	0.52313	-0.8592	10	0.72032	D	0.01	-11.595	14.4332	0.67264	0.0:0.8527:0.1473:0.0	.	1626;1316	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	K	1337;1275;1316;1275;641	ENSP00000429556:T1275K;ENSP00000352927:T1316K;ENSP00000382924:T1275K;ENSP00000303670:T641K	ENSP00000303670:T641K	T	+	2	0	CCDC165	8815455	0.998000	0.40836	0.980000	0.43619	0.951000	0.60555	3.813000	0.55636	2.448000	0.82819	0.655000	0.94253	ACG		0.612	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			15	72	1	0	6.31663e-08	0.132662	1.02141e-07	15	72				
DHX40	79665	broad.mit.edu	37	17	57663568	57663568	+	Silent	SNP	A	A	G	rs2697395		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:57663568A>G	ENST00000251241.4	+	11	1545	c.1398A>G	c.(1396-1398)caA>caG	p.Q466Q	DHX40_ENST00000425628.3_Silent_p.Q389Q|DHX40_ENST00000451169.2_Silent_p.Q418Q	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	466							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.Q466Q(1)		endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTCTTAAACAACTTTACCAGT	0.323																																						ENST00000451169.2																			1	Substitution - coding silent(1)	p.Q466Q(1)	endometrium(1)	endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20						c.(1252-1254)caA>caG		DEAH (Asp-Glu-Ala-His) box polypeptide 40							57.0	49.0	52.0					17																	57663568		2202	4297	6499	SO:0001819	synonymous_variant	79665						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:57663568A>G	AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"""DEAH-boxes"""	18018	protein-coding gene	gene with protein product		607570	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"""	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.1398A>G	17.37:g.57663568A>G			Somatic				DHX40_ENST00000425628.3_Silent_p.Q389Q|DHX40_ENST00000251241.4_Silent_p.Q466Q	p.Q418Q			WXS	Illumina GAIIx	Phase_I	Q8IX18	DHX40_HUMAN			14	1613	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		466			Helicase C-terminal.		B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Silent	SNP	ENST00000251241.4	37	c.1254A>G	CCDS11617.1																																																																																				0.323	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446095.1	NM_024612		4	25	0	0	0	0.009096	0	4	25				
CAPN2	824	broad.mit.edu	37	1	223954130	223954130	+	Silent	SNP	A	A	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:223954130A>C	ENST00000295006.5	+	16	2061	c.1752A>C	c.(1750-1752)ctA>ctC	p.L584L	CAPN2_ENST00000474026.1_3'UTR|CAPN2_ENST00000433674.2_Silent_p.L506L	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	584	Domain IV.|EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TTGACATGCTAGATGTATCCT	0.403																																						ENST00000295006.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29						c.(1750-1752)ctA>ctC		calpain 2, (m/II) large subunit							136.0	119.0	125.0					1																	223954130		2203	4300	6503	SO:0001819	synonymous_variant	824				proteolysis	cytoplasm|plasma membrane		g.chr1:223954130A>C	J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1752A>C	1.37:g.223954130A>C			Somatic				CAPN2_ENST00000474026.1_3'UTR|CAPN2_ENST00000433674.2_Silent_p.L506L	p.L584L	NM_001748.4	NP_001739.2	WXS	Illumina GAIIx	Phase_I	P17655	CAN2_HUMAN		GBM - Glioblastoma multiforme(131;0.109)	16	2061	+			584			Domain IV.|EF-hand 1.		A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Silent	SNP	ENST00000295006.5	37	c.1752A>C	CCDS31035.1																																																																																				0.403	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748		9	65	0	0	0	0.069234	0	9	65				
SUSD5	26032	broad.mit.edu	37	3	33195040	33195040	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:33195040C>A	ENST00000309558.3	-	5	1501	c.1084G>T	c.(1084-1086)Gtg>Ttg	p.V362L		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	362					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTGCTCACCACTGGATCTCCT	0.552																																						ENST00000309558.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1084-1086)Gtg>Ttg		sushi domain containing 5							106.0	110.0	108.0					3																	33195040		2124	4248	6372	SO:0001583	missense	26032				cell adhesion	integral to membrane	hyaluronic acid binding	g.chr3:33195040C>A	AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.1084G>T	3.37:g.33195040C>A	ENSP00000308727:p.Val362Leu		Somatic					p.V362L	NM_015551.1	NP_056366.1	WXS	Illumina GAIIx	Phase_I	O60279	SUSD5_HUMAN			5	1501	-			362						Missense_Mutation	SNP	ENST00000309558.3	37	c.1084G>T	CCDS46787.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.768011	0.00645	.	.	ENSG00000173705	ENST00000309558	T	0.06528	3.29	5.31	1.94	0.25998	.	1.135350	0.06349	N	0.709584	T	0.04679	0.0127	N	0.22421	0.69	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.46569	-0.9182	10	0.09590	T	0.72	-5.6378	7.6367	0.28270	0.0:0.445:0.0:0.555	.	362	O60279	SUSD5_HUMAN	L	362	ENSP00000308727:V362L	ENSP00000308727:V362L	V	-	1	0	SUSD5	33170044	0.000000	0.05858	0.006000	0.13384	0.117000	0.20001	0.038000	0.13862	0.203000	0.20529	0.650000	0.86243	GTG		0.552	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054		15	95	1	0	0.000308642	0.132662	0.00047871	15	95				
MYO19	80179	broad.mit.edu	37	17	34861237	34861237	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:34861237G>T	ENST00000431794.3	-	19	2326	c.1804C>A	c.(1804-1806)Ctg>Atg	p.L602M	MYO19_ENST00000268852.9_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	602	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AGCTGCTCCAGTGAGGCCTGC	0.592																																						ENST00000431794.3																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20						c.(1804-1806)Ctg>Atg		myosin XIX							94.0	86.0	88.0					17																	34861237		1568	3582	5150	SO:0001583	missense	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34861237G>T	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.1804C>A	17.37:g.34861237G>T	ENSP00000409936:p.Leu602Met		Somatic				MYO19_ENST00000268852.9_Intron	p.L602M	NM_001163735.1	NP_001157207.1	WXS	Illumina GAIIx	Phase_I	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	19	2326	-		Breast(25;0.00957)|Ovarian(249;0.17)	602			Myosin head-like.		Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	c.1804C>A	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312029	0.81358	.	.	ENSG00000141140	ENST00000431794	D	0.89810	-2.57	5.53	4.56	0.56223	Myosin head, motor domain (2);	.	.	.	.	D	0.93618	0.7962	M	0.74389	2.26	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94157	0.7411	9	0.87932	D	0	.	13.1998	0.59761	0.0775:0.0:0.9224:0.0	.	602	Q96H55	MYO19_HUMAN	M	602	ENSP00000409936:L602M	ENSP00000409936:L602M	L	-	1	2	MYO19	31935350	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	5.742000	0.68646	1.462000	0.47948	0.563000	0.77884	CTG		0.592	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		8	63	1	0	5.18039e-06	0.038147	8.20229e-06	8	63				
TRMT12	55039	broad.mit.edu	37	8	125463612	125463612	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:125463612C>G	ENST00000328599.3	+	1	565	c.444C>G	c.(442-444)ttC>ttG	p.F148L	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	148					tRNA processing (GO:0008033)		transferase activity (GO:0016740)			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AAGACTGTTTCCAAGCCAAGC	0.567																																						ENST00000328599.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(442-444)ttC>ttG		tRNA methyltransferase 12 homolog (S. cerevisiae)							77.0	78.0	77.0					8																	125463612		2203	4300	6503	SO:0001583	missense	55039				tRNA processing		methyltransferase activity	g.chr8:125463612C>G	AF313041	CCDS6349.1	8q24.13	2011-05-09	2006-11-16		ENSG00000183665	ENSG00000183665			26091	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 2"""	611244	"""tRNA methyltranferase 12 homolog (S. cerevisiae)"""			16005430, 17150819	Standard	NM_017956		Approved	FLJ20772, Trm12, TYW2	uc003yra.4	Q53H54	OTTHUMG00000165022	ENST00000328599.3:c.444C>G	8.37:g.125463612C>G	ENSP00000329858:p.Phe148Leu		Somatic				TRMT12_ENST00000521443.1_Intron	p.F148L	NM_017956.3	NP_060426.2	WXS	Illumina GAIIx	Phase_I	Q53H54	TYW2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		1	565	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		148					Q6PKB9|Q96F21|Q9NWK6	Missense_Mutation	SNP	ENST00000328599.3	37	c.444C>G	CCDS6349.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143626	0.57044	.	.	ENSG00000183665	ENST00000328599	T	0.22134	1.97	4.55	2.59	0.31030	.	0.000000	0.85682	D	0.000000	T	0.27697	0.0681	L	0.49256	1.55	0.52099	D	0.999948	P	0.52061	0.95	P	0.61328	0.887	T	0.30357	-0.9981	10	0.02654	T	1	-14.9229	9.0902	0.36605	0.0:0.7984:0.0:0.2016	.	148	Q53H54	TYW2_HUMAN	L	148	ENSP00000329858:F148L	ENSP00000329858:F148L	F	+	3	2	TRMT12	125532793	0.999000	0.42202	1.000000	0.80357	0.788000	0.44548	1.637000	0.37155	0.515000	0.28320	-0.367000	0.07326	TTC		0.567	TRMT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381465.1	NM_017956		7	208	0	0	0	0.038147	0	7	208				
NAV1	89796	broad.mit.edu	37	1	201772738	201772738	+	Missense_Mutation	SNP	C	C	A	rs191072842		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:201772738C>A	ENST00000367296.4	+	16	3955	c.3535C>A	c.(3535-3537)Caa>Aaa	p.Q1179K	NAV1_ENST00000367302.1_Missense_Mutation_p.Q1135K|NAV1_ENST00000367297.4_Missense_Mutation_p.Q1171K|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.Q1179K|NAV1_ENST00000367295.1_Missense_Mutation_p.Q788K|NAV1_ENST00000367300.3_Missense_Mutation_p.Q1122K	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1179					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GATCAAGAGACAAAACTCCTC	0.443																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(3535-3537)Caa>Aaa		neuron navigator 1							99.0	84.0	89.0					1																	201772738		2203	4300	6503	SO:0001583	missense	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201772738C>A	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.3535C>A	1.37:g.201772738C>A	ENSP00000356265:p.Gln1179Lys		Somatic				NAV1_ENST00000367295.1_Missense_Mutation_p.Q788K|NAV1_ENST00000367300.3_Missense_Mutation_p.Q1122K|NAV1_ENST00000367297.4_Missense_Mutation_p.Q1171K|NAV1_ENST00000367302.1_Missense_Mutation_p.Q1135K|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.Q1179K	p.Q1179K	NM_020443.4	NP_065176.3	WXS	Illumina GAIIx	Phase_I	Q8NEY1	NAV1_HUMAN			16	3955	+			1179					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	c.3535C>A	CCDS1414.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	31|31|31	5.098918|5.098918|5.098918	0.94197|0.94197|0.94197	.|.|.	.|.|.	ENSG00000134369|ENSG00000134369|ENSG00000134369	ENST00000438083|ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295|ENST00000430015	.|D;D;D;D;D;D|.	.|0.93859|.	.|-3.3;-3.3;-3.3;-3.3;-3.3;-3.3|.	5.0|5.0|5.0	5.0|5.0|5.0	0.66597|0.66597|0.66597	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.77123|0.77123|0.77123	0.4084|0.4084|0.4084	M|M|M	0.77486|0.77486|0.77486	2.375|2.375|2.375	0.58432|0.58432|0.58432	D|D|D	0.999996|0.999996|0.999996	.|D;D;P;D|.	.|0.89917|.	.|0.998;1.0;0.934;0.998|.	.|D;D;D;D|.	.|0.80764|.	.|0.991;0.994;0.943;0.991|.	T|T|T	0.78107|0.78107|0.78107	-0.2333|-0.2333|-0.2333	5|10|5	.|0.87932|.	.|D|.	.|0|.	-23.7326|-23.7326|-23.7326	17.9614|17.9614|17.9614	0.89086|0.89086|0.89086	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|788;1179;704;1179|.	.|Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3|.	.|.;NAV1_HUMAN;.;.|.	E|K|K	161|1135;1179;1179;1171;1122;704;788|728	.|ENSP00000356271:Q1135K;ENSP00000356265:Q1179K;ENSP00000295624:Q1179K;ENSP00000356266:Q1171K;ENSP00000356269:Q1122K;ENSP00000356264:Q788K|.	.|ENSP00000295624:Q1179K|.	D|Q|T	+|+|+	3|1|2	2|0|0	NAV1|NAV1|NAV1	200039361|200039361|200039361	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	6.020000|6.020000|6.020000	0.70826|0.70826|0.70826	2.332000|2.332000|2.332000	0.79248|0.79248|0.79248	0.558000|0.558000|0.558000	0.71614|0.71614|0.71614	GAC|CAA|ACA		0.443	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		28	45	1	0	2.65835e-16	0.125774	4.48965e-16	28	45				
HERC6	55008	broad.mit.edu	37	4	89334236	89334236	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:89334236C>T	ENST00000264346.7	+	12	1435	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	HERC6_ENST00000380265.5_Missense_Mutation_p.T459M	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	459					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.T459M(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CAGATAACTACGTGTCTCGAG	0.443																																						ENST00000380265.5																			1	Substitution - Missense(1)	p.T459M(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11						c.(1375-1377)aCg>aTg		HECT and RLD domain containing E3 ubiquitin protein ligase family member 6							215.0	206.0	209.0					4																	89334236		1920	4150	6070	SO:0001583	missense	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89334236C>T	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.1376C>T	4.37:g.89334236C>T	ENSP00000264346:p.Thr459Met		Somatic				HERC6_ENST00000264346.7_Missense_Mutation_p.T459M	p.T459M	NM_001165136.1	NP_001158608.1	WXS	Illumina GAIIx	Phase_I	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	12	1559	+		Hepatocellular(203;0.114)	459					B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	c.1376C>T	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474851	0.26511	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.39997	1.05;1.08	4.76	-1.71	0.08133	.	1.440270	0.04266	N	0.341279	T	0.51991	0.1707	M	0.66939	2.045	0.09310	N	1	D;D	0.76494	0.999;0.999	P;P	0.59703	0.862;0.732	T	0.39921	-0.9590	10	0.54805	T	0.06	.	1.1796	0.01842	0.3773:0.2162:0.2472:0.1593	.	459;459	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	M	459	ENSP00000369617:T459M;ENSP00000264346:T459M	ENSP00000264346:T459M	T	+	2	0	HERC6	89553259	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.630000	0.05502	-0.683000	0.05190	-0.302000	0.09304	ACG		0.443	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			15	677	0	0	0	0.033300	0	15	677				
SETX	23064	broad.mit.edu	37	9	135158714	135158714	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:135158714T>C	ENST00000224140.5	-	19	6665	c.6483A>G	c.(6481-6483)ttA>ttG	p.L2161L	SETX_ENST00000372169.2_Silent_p.L2161L|SETX_ENST00000393220.1_Silent_p.L2161L	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2161					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACTCAAGTAGTAAACCACCAC	0.478																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(6481-6483)ttA>ttG		senataxin							206.0	159.0	175.0					9																	135158714		2203	4300	6503	SO:0001819	synonymous_variant	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135158714T>C	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.6483A>G	9.37:g.135158714T>C			Somatic				SETX_ENST00000393220.1_Silent_p.L2161L|SETX_ENST00000224140.5_Silent_p.L2161L	p.L2161L			WXS	Illumina GAIIx	Phase_I	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	19	6665	-		Myeloproliferative disorder(178;0.204)	2161					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	ENST00000224140.5	37	c.6483A>G	CCDS6947.1																																																																																				0.478	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		59	200	0	0	0	0.139131	0	59	200				
SORCS3	22986	broad.mit.edu	37	10	106976771	106976771	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:106976771C>T	ENST00000369701.3	+	19	2852	c.2625C>T	c.(2623-2625)atC>atT	p.I875I	SORCS3_ENST00000369699.4_Silent_p.I161I	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	875	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.I875I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCAGCCCCATCGAGGACGGCA	0.532																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			1	Substitution - coding silent(1)	p.I875I(1)	stomach(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(2623-2625)atC>atT		sortilin-related VPS10 domain containing receptor 3							165.0	125.0	139.0					10																	106976771		2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106976771C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2625C>T	10.37:g.106976771C>T			Somatic				SORCS3_ENST00000369699.4_Silent_p.I161I	p.I875I	NM_014978.1	NP_055793.1	WXS	Illumina GAIIx	Phase_I	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	19	2852	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	875			PKD.		Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.2625C>T	CCDS7558.1																																																																																				0.532	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		31	66	0	0	0	0.134883	0	31	66				
SPATA31D1	389763	broad.mit.edu	37	9	84607291	84607291	+	Missense_Mutation	SNP	T	T	G	rs201182137	byFrequency	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:84607291T>G	ENST00000344803.2	+	4	1953	c.1906T>G	c.(1906-1908)Ttg>Gtg	p.L636V		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	636					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCAGGAAAGTTTGTGGGGCTT	0.478													G|||	3	0.000599042	0.0008	0.0	5008	,	,		19868	0.0		0.001	False		,,,				2504	0.001					ENST00000344803.2																			0											c.(1906-1908)Ttg>Gtg		SPATA31 subfamily D, member 1		G	VAL/LEU	0,3730		0,0,1865	101.0	98.0	99.0		1906	-3.7	0.0	9		99	1,8223		0,1,4111	no	missense	FAM75D1	NM_001001670.2	32	0,1,5976	GG,GT,TT		0.0122,0.0,0.0084	benign	636/1577	84607291	1,11953	1865	4112	5977	SO:0001583	missense	389763							g.chr9:84607291T>G		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1906T>G	9.37:g.84607291T>G	ENSP00000341988:p.Leu636Val		Somatic					p.L636V	NM_001001670.2	NP_001001670.1	WXS	Illumina GAIIx	Phase_I					4	1953	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.1906T>G	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	4.363	0.066840	0.08388	0.0	1.22E-4	ENSG00000214929	ENST00000344803	T	0.05786	3.39	3.83	-3.67	0.04476	.	1.454400	0.04584	N	0.395509	T	0.02970	0.0088	N	0.11023	0.085	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.43261	-0.9402	10	0.16420	T	0.52	0.4754	3.7406	0.08528	0.108:0.096:0.4463:0.3497	.	636	Q6ZQQ2	F75D1_HUMAN	V	636	ENSP00000341988:L636V	ENSP00000341988:L636V	L	+	1	2	FAM75D1	83797111	0.011000	0.17503	0.002000	0.10522	0.000000	0.00434	-0.756000	0.04777	-1.293000	0.02362	-0.729000	0.03580	TTG		0.478	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		6	158	0	0	0	0.038147	0	6	158				
DCLRE1C	64421	broad.mit.edu	37	10	14950897	14950897	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:14950897G>A	ENST00000378278.2	-	14	1626	c.1589C>T	c.(1588-1590)aCt>aTt	p.T530I	DCLRE1C_ENST00000357717.2_Missense_Mutation_p.T415I|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.T410I|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.T183I|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.T410I|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.T410I|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.T410I|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.T415I|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.T415I|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.T410I			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	530					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GGAGATGTGAGTTGATTCTCC	0.453								Non-homologous end-joining																														ENST00000453695.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						c.(1228-1230)aCt>aTt	Non-homologous end-joining	DNA cross-link repair 1C							68.0	66.0	67.0					10																	14950897		2203	4300	6503	SO:0001583	missense	64421				DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity	g.chr10:14950897G>A	BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1589C>T	10.37:g.14950897G>A	ENSP00000367527:p.Thr530Ile		Somatic				DCLRE1C_ENST00000357717.2_Missense_Mutation_p.T415I|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.T410I|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.T410I|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.T183I|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.T415I|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.T415I|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.T410I|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.T410I|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.T530I	p.T410I	NM_001033855.1	NP_001029027.1	WXS	Illumina GAIIx	Phase_I	Q96SD1	DCR1C_HUMAN			14	1673	-			530					D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	ENST00000378278.2	37	c.1229C>T	CCDS31149.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608865	0.87258	.	.	ENSG00000152457	ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000378242	T;T;T;T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84	5.93	5.93	0.95920	.	0.269175	0.41823	D	0.000806	T	0.44540	0.1298	L	0.32530	0.975	0.48632	D	0.999684	D;D	0.89917	1.0;0.986	D;P	0.91635	0.999;0.731	T	0.30090	-0.9990	10	0.87932	D	0	.	20.3311	0.98718	0.0:0.0:1.0:0.0	.	415;530	Q96SD1-3;Q96SD1	.;DCR1C_HUMAN	I	410;415;415;415;410;410;410;530;410;183	ENSP00000400529:T410I;ENSP00000367492:T415I;ENSP00000350349:T415I;ENSP00000367496:T415I;ENSP00000380030:T410I;ENSP00000367503:T410I;ENSP00000367502:T410I;ENSP00000367527:T530I;ENSP00000367506:T410I;ENSP00000367488:T183I	ENSP00000350349:T415I	T	-	2	0	DCLRE1C	14990903	1.000000	0.71417	0.990000	0.47175	0.985000	0.73830	7.159000	0.77483	2.797000	0.96272	0.655000	0.94253	ACT		0.453	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487		5	114	0	0	0	0.014758	0	5	114				
SYNE1	23345	broad.mit.edu	37	6	152749365	152749365	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:152749365C>T	ENST00000367255.5	-	37	5552	c.4951G>A	c.(4951-4953)Gag>Aag	p.E1651K	SYNE1_ENST00000423061.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1721K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1651K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1651K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1651					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCAGATTCTCCAGCGCCGTC	0.512										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(4951-4953)Gag>Aag		spectrin repeat containing, nuclear envelope 1							196.0	204.0	201.0					6																	152749365		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152749365C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4951G>A	6.37:g.152749365C>T	ENSP00000356224:p.Glu1651Lys	HNSCC(10;0.0054)	Somatic				SYNE1_ENST00000341594.5_Missense_Mutation_p.E1721K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1651K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1651K	p.E1651K	NM_182961.3	NP_892006.3	WXS	Illumina GAIIx	Phase_I	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	37	5552	-		Ovarian(120;0.0955)	1651					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.4951G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984058	0.74474	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38	5.87	5.87	0.94306	.	0.196546	0.35179	N	0.003396	T	0.58764	0.2145	M	0.65498	2.005	0.80722	D	1	P;P;P;P;P	0.49862	0.856;0.866;0.929;0.866;0.929	B;B;P;B;P	0.51582	0.393;0.419;0.674;0.419;0.539	T	0.61476	-0.7055	10	0.66056	D	0.02	.	20.206	0.98277	0.0:1.0:0.0:0.0	.	1634;1651;1651;1651;1658	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	K	1651;1658;1651;1658;1721;1651	ENSP00000356224:E1651K;ENSP00000396024:E1658K;ENSP00000265368:E1651K;ENSP00000390975:E1658K;ENSP00000341887:E1721K;ENSP00000356222:E1651K	ENSP00000265368:E1651K	E	-	1	0	SYNE1	152791058	1.000000	0.71417	0.866000	0.34008	0.585000	0.36419	6.449000	0.73473	2.785000	0.95823	0.655000	0.94253	GAG		0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		6	343	0	0	0	0.029380	0	6	343				
ANGPT1	284	broad.mit.edu	37	8	108276471	108276471	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:108276471T>C	ENST00000520734.1	-	7	999	c.714A>G	c.(712-714)aaA>aaG	p.K238K	ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Silent_p.K237K			Q15389	ANGP1_HUMAN	angiopoietin 1	438					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TGAGGGCACATTTGCACATAC	0.433																																						ENST00000520734.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43						c.(712-714)aaA>aaG		angiopoietin 1							134.0	113.0	120.0					8																	108276471		2203	4300	6503	SO:0001819	synonymous_variant	284				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	g.chr8:108276471T>C	D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"""Fibrinogen C domain containing"""	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.714A>G	8.37:g.108276471T>C			Somatic				ANGPT1_ENST00000520052.1_Silent_p.K237K|ANGPT1_ENST00000518386.1_5'UTR	p.K238K			WXS	Illumina GAIIx	Phase_I	Q15389	ANGP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		7	999	-	Breast(1;5.06e-08)		438					Q5HYA0	Silent	SNP	ENST00000520734.1	37	c.714A>G																																																																																					0.433	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		37	110	0	0	0	0.074837	0	37	110				
LINC00969	440993	broad.mit.edu	37	3	195410687	195410687	+	lincRNA	SNP	T	T	A	rs6583274	byFrequency	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:195410687T>A	ENST00000445430.1	+	0	1884									long intergenic non-protein coding RNA 969																		CCCTTTGAGGTGCACTGGAGG	0.567													.|||	701	0.139976	0.0552	0.1571	5008	,	,		36746	0.1855		0.16	False		,,,				2504	0.1748					ENST00000445430.1																			0																																																			440993							g.chr3:195410687T>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195410687T>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	1884	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.567	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	32	0	0	0	0.115264	0	3	32				
ESPNP	284729	broad.mit.edu	37	1	17034167	17034167	+	RNA	SNP	G	G	A	rs2988287		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:17034167G>A	ENST00000492551.1	-	0	436					NR_026567.1				espin pseudogene																		CGCGAAGTGCGTGGCGGTGGC	0.731																																						ENST00000492551.1																			0																																																			284729							g.chr1:17034167G>A	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034167G>A			Somatic						NR_026567.1		WXS	Illumina GAIIx	Phase_I					0	436	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.731	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			3	7	0	0	0	0.115264	0	3	7				
EHHADH	1962	broad.mit.edu	37	3	184953206	184953206	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:184953206T>C	ENST00000231887.3	-	3	298	c.223A>G	c.(223-225)Aca>Gca	p.T75A	EHHADH_ENST00000456310.1_5'UTR|EHHADH_ENST00000475987.1_5'UTR	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	75	Enoyl-CoA hydratase / isomerase.		T -> I (in dbSNP:rs1062553). {ECO:0000269|PubMed:8188243}.		fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			TGTCCCAGTGTAAGGCCAAAT	0.493																																						ENST00000231887.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.(223-225)Aca>Gca		enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NADH(DB00157)						59.0	56.0	57.0					3																	184953206		2203	4300	6503	SO:0001583	missense	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184953206T>C	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.223A>G	3.37:g.184953206T>C	ENSP00000231887:p.Thr75Ala		Somatic				EHHADH_ENST00000475987.1_5'UTR|EHHADH_ENST00000456310.1_5'UTR	p.T75A	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	WXS	Illumina GAIIx	Phase_I	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		3	298	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		75		T -> I (in dbSNP:rs1062553).	Enoyl-CoA hydratase / isomerase.		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	c.223A>G	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	T	9.739	1.164469	0.21538	.	.	ENSG00000113790	ENST00000537544;ENST00000231887	T	0.67865	-0.29	5.55	-11.1	0.00147	Crotonase, core (1);	1.862110	0.02321	N	0.073037	T	0.38453	0.1041	N	0.17800	0.525	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32955	-0.9887	10	0.10636	T	0.68	3.2226	2.1963	0.03912	0.2837:0.4894:0.1228:0.1041	.	75	Q08426	ECHP_HUMAN	A	75	ENSP00000231887:T75A	ENSP00000231887:T75A	T	-	1	0	EHHADH	186435900	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.617000	0.02051	-3.373000	0.00176	-2.426000	0.00216	ACA		0.493	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			5	119	0	0	0	0.021553	0	5	119				
CPA5	93979	broad.mit.edu	37	7	130008311	130008311	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:130008311G>A	ENST00000485477.1	+	12	2313	c.1184G>A	c.(1183-1185)aGc>aAc	p.S395N	CPA5_ENST00000355388.3_Missense_Mutation_p.S395N|CPA5_ENST00000461828.1_Missense_Mutation_p.S395N|CPA5_ENST00000393213.3_Missense_Mutation_p.S395N|CPA5_ENST00000474905.1_Missense_Mutation_p.S395N|CPA5_ENST00000431780.2_Missense_Mutation_p.A367T|CPA5_ENST00000466363.2_Missense_Mutation_p.S395N			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	395						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TACGCCTTCAGCTTTGAGCTC	0.567																																						ENST00000485477.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23						c.(1183-1185)aGc>aAc		carboxypeptidase A5							153.0	134.0	140.0					7																	130008311		2203	4300	6503	SO:0001583	missense	93979				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130008311G>A	AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.1184G>A	7.37:g.130008311G>A	ENSP00000420237:p.Ser395Asn		Somatic				CPA5_ENST00000393213.3_Missense_Mutation_p.S395N|CPA5_ENST00000466363.2_Missense_Mutation_p.S395N|CPA5_ENST00000461828.1_Missense_Mutation_p.S395N|CPA5_ENST00000431780.2_Missense_Mutation_p.A367T|CPA5_ENST00000355388.3_Missense_Mutation_p.S395N|CPA5_ENST00000474905.1_Missense_Mutation_p.S395N	p.S395N			WXS	Illumina GAIIx	Phase_I	Q8WXQ8	CBPA5_HUMAN			12	2313	+	Melanoma(18;0.0435)		395					G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	ENST00000485477.1	37	c.1184G>A	CCDS5819.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.47|14.47	2.546222|2.546222	0.45383|0.45383	.|.	.|.	ENSG00000158525|ENSG00000158525	ENST00000431780;ENST00000479492|ENST00000355388;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000474905;ENST00000393213	T|T;T;T;T;T;T	0.12774|0.03386	2.65|3.95;3.95;3.95;3.95;3.95;3.95	5.81|5.81	0.429|0.429	0.16506|0.16506	.|Peptidase M14, carboxypeptidase A (2);	.|0.335361	.|0.29480	.|N	.|0.012032	T|T	0.06280|0.06280	0.0162|0.0162	L|L	0.49126|0.49126	1.545|1.545	0.26105|0.26105	N|N	0.980764|0.980764	P|P	0.35272|0.36495	0.493|0.556	B|B	0.30495|0.43018	0.116|0.405	T|T	0.19224|0.19224	-1.0312|-1.0312	8|9	.|.	.|.	.|.	.|.	13.7715|13.7715	0.63029|0.63029	0.0:0.5372:0.3683:0.0945|0.0:0.5372:0.3683:0.0945	.|.	367|395	G3V0G8|Q8WXQ8	.|CBPA5_HUMAN	T|N	367;44|395	ENSP00000393045:A367T|ENSP00000347549:S395N;ENSP00000418183:S395N;ENSP00000419025:S395N;ENSP00000420237:S395N;ENSP00000417314:S395N;ENSP00000376907:S395N	.|.	A|S	+|+	1|2	0|0	CPA5|CPA5	129795547|129795547	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.021000|0.021000	0.10359|0.10359	2.040000|2.040000	0.41203|0.41203	0.065000|0.065000	0.16485|0.16485	-0.181000|-0.181000	0.13052|0.13052	GCT|AGC		0.567	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441		69	226	0	0	0	0.139131	0	69	226				
KIAA1143	57456	broad.mit.edu	37	3	44794950	44794950	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:44794950T>C	ENST00000296121.4	-	3	407	c.348A>G	c.(346-348)tcA>tcG	p.S116S	KIAA1143_ENST00000484437.1_5'UTR	NM_020696.3	NP_065747.1	Q96AT1	K1143_HUMAN	KIAA1143	116										NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		TCTTCTTTTTTGAGCTTGCTG	0.373																																						ENST00000296121.4																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5						c.(346-348)tcA>tcG		KIAA1143							77.0	80.0	79.0					3																	44794950		2203	4297	6500	SO:0001819	synonymous_variant	57456							g.chr3:44794950T>C	AB032969	CCDS2721.1	3p21.31	2005-08-15			ENSG00000163807	ENSG00000163807			29198	protein-coding gene	gene with protein product						10574461	Standard	NM_020696		Approved		uc011bac.2	Q96AT1	OTTHUMG00000133088	ENST00000296121.4:c.348A>G	3.37:g.44794950T>C			Somatic				KIAA1143_ENST00000484437.1_5'UTR	p.S116S	NM_020696.3	NP_065747.1	WXS	Illumina GAIIx	Phase_I	Q96AT1	K1143_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)	3	407	-			116					A8K0I4|Q96HJ8|Q9ULS7	Silent	SNP	ENST00000296121.4	37	c.348A>G	CCDS2721.1																																																																																				0.373	KIAA1143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256746.1	NM_020696		5	344	0	0	0	0.014758	0	5	344				
IGSF3	3321	broad.mit.edu	37	1	117142736	117142736	+	Missense_Mutation	SNP	A	A	G	rs138851517	byFrequency	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:117142736A>G	ENST00000369486.3	-	7	2621	c.1856T>C	c.(1855-1857)aTc>aCc	p.I619T	IGSF3_ENST00000318837.6_Missense_Mutation_p.I639T|IGSF3_ENST00000369483.1_Missense_Mutation_p.I639T	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	619	Ig-like C2-type 5.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGCCTTCTCGATGGCAGTTCG	0.627													A|||	10	0.00199681	0.0023	0.0029	5008	,	,		16651	0.001		0.001	False		,,,				2504	0.0031					ENST00000369486.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(1855-1857)aTc>aCc		immunoglobulin superfamily, member 3																																				SO:0001583	missense	3321					integral to membrane		g.chr1:117142736A>G	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1856T>C	1.37:g.117142736A>G	ENSP00000358498:p.Ile619Thr		Somatic				IGSF3_ENST00000369483.1_Missense_Mutation_p.I639T|IGSF3_ENST00000318837.6_Missense_Mutation_p.I639T	p.I619T	NM_001007237.1	NP_001007238.1	WXS	Illumina GAIIx	Phase_I	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	7	2621	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	619			Ig-like C2-type 5.		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.1856T>C	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.096884	0.56075	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.15256	2.44;2.44;2.44	4.8	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.132915	0.52532	D	0.000079	T	0.06096	0.0158	N	0.19112	0.55	0.48571	D	0.999675	B;B;B	0.30914	0.162;0.3;0.195	B;B;B	0.33454	0.069;0.164;0.114	T	0.16837	-1.0389	10	0.51188	T	0.08	-37.2914	12.3358	0.55067	1.0:0.0:0.0:0.0	.	639;619;639	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	T	619;639;639	ENSP00000358498:I619T;ENSP00000358495:I639T;ENSP00000321184:I639T	ENSP00000321184:I639T	I	-	2	0	IGSF3	116944259	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.960000	0.76036	2.001000	0.58596	0.374000	0.22700	ATC		0.627	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		3	45	0	0	0	0.029380	0	3	45				
SPATA31D1	389763	broad.mit.edu	37	9	84607299	84607299	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:84607299C>T	ENST00000344803.2	+	4	1961	c.1914C>T	c.(1912-1914)ggC>ggT	p.G638G		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	638					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.G638G(2)									GTTTGTGGGGCTTACCCTCTG	0.478																																						ENST00000344803.2																			2	Substitution - coding silent(2)	p.G638G(2)	lung(2)								c.(1912-1914)ggC>ggT		SPATA31 subfamily D, member 1							101.0	97.0	99.0					9																	84607299		1860	4112	5972	SO:0001819	synonymous_variant	389763							g.chr9:84607299C>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1914C>T	9.37:g.84607299C>T			Somatic					p.G638G	NM_001001670.2	NP_001001670.1	WXS	Illumina GAIIx	Phase_I					4	1961	+									Silent	SNP	ENST00000344803.2	37	c.1914C>T	CCDS47986.1																																																																																				0.478	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		6	156	0	0	0	0.038147	0	6	156				
GRIA1	2890	broad.mit.edu	37	5	153190646	153190646	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:153190646G>A	ENST00000285900.5	+	16	2925	c.2582G>A	c.(2581-2583)cGc>cAc	p.R861H	GRIA1_ENST00000518142.1_Missense_Mutation_p.R781H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R792H|GRIA1_ENST00000340592.5_Missense_Mutation_p.R861H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R871H|GRIA1_ENST00000518783.1_Missense_Mutation_p.R871H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	861					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	ACCCTCCCCCGCAACAGCGGG	0.592																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2581-2583)cGc>cAc		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						45.0	50.0	48.0					5																	153190646		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153190646G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2582G>A	5.37:g.153190646G>A	ENSP00000285900:p.Arg861His		Somatic				GRIA1_ENST00000518783.1_Missense_Mutation_p.R871H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R871H|GRIA1_ENST00000340592.5_Missense_Mutation_p.R861H|GRIA1_ENST00000518142.1_Missense_Mutation_p.R781H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R792H	p.R861H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	WXS	Illumina GAIIx	Phase_I	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		16	2925	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	861					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2582G>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950626	0.92660	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.12984	2.68;2.63;2.68;2.63;2.63;2.67;2.67	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.20941	0.0504	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.998;0.996;0.999;0.996	P;P;P;P;P	0.62014	0.791;0.791;0.572;0.897;0.572	T	0.09618	-1.0666	10	0.87932	D	0	.	17.6489	0.88157	0.0:0.0:1.0:0.0	.	871;871;781;861;861	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	H	861;861;781;861;794;792;871;871	ENSP00000285900:R861H;ENSP00000427920:R781H;ENSP00000339343:R861H;ENSP00000427864:R794H;ENSP00000442108:R792H;ENSP00000428994:R871H;ENSP00000415569:R871H	ENSP00000285900:R861H	R	+	2	0	GRIA1	153170839	1.000000	0.71417	0.919000	0.36401	0.877000	0.50540	9.200000	0.95010	2.399000	0.81585	0.655000	0.94253	CGC		0.592	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			22	81	0	0	0	0.125774	0	22	81				
LILRA1	11024	broad.mit.edu	37	19	55106130	55106130	+	Splice_Site	SNP	G	G	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:55106130G>A	ENST00000251372.3	+	4	253	c.71G>A	c.(70-72)gGg>gAg	p.G24E	LILRA1_ENST00000453777.1_Splice_Site_p.G24E|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	24					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.G24E(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TTCCTTCCAGGGACCCTCCCC	0.587																																						ENST00000453777.1																			1	Substitution - Missense(1)	p.G24E(1)	central_nervous_system(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.e4-1		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1							55.0	59.0	57.0					19																	55106130		2203	4300	6503	SO:0001630	splice_region_variant	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106130G>A	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.71-1G>A	19.37:g.55106130G>A			Somatic				LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000251372.3_Splice_Site_p.G24_splice|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron	p.G24_splice	NM_001278318.1	NP_001265247.1	WXS	Illumina GAIIx	Phase_I	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	4	241	+			24					O75018|Q3MJA6	Splice_Site	SNP	ENST00000251372.3	37	c.70_splice	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	G	9.608	1.130539	0.21041	.	.	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.00527	6.82;6.79	1.58	1.58	0.23477	Immunoglobulin-like fold (1);	0.925333	0.08964	N	0.868253	T	0.00845	0.0028	M	0.64630	1.985	0.22511	N	0.999036	D;P	0.54601	0.967;0.717	P;B	0.52909	0.713;0.32	T	0.54497	-0.8285	9	.	.	.	.	6.6677	0.23050	0.0:0.0:1.0:0.0	.	24;24	O75019-2;O75019	.;LIRA1_HUMAN	E	24	ENSP00000251372:G24E;ENSP00000413715:G24E	.	G	+	2	0	LILRA1	59797942	0.010000	0.17322	0.735000	0.30896	0.025000	0.11179	-0.299000	0.08254	1.198000	0.43158	0.194000	0.17425	GGG		0.587	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863	Missense_Mutation	32	142	0	0	0	0.054565	0	32	142				
OCA2	4948	broad.mit.edu	37	15	28230277	28230277	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:28230277C>T	ENST00000354638.3	-	13	1452	c.1297G>A	c.(1297-1299)Gcg>Acg	p.A433T	OCA2_ENST00000353809.5_Missense_Mutation_p.A409T|OCA2_ENST00000382996.2_Missense_Mutation_p.A433T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	433					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGGACGGCCGCGATGAGACAG	0.597									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(1297-1299)Gcg>Acg		oculocutaneous albinism II							152.0	106.0	122.0					15																	28230277		2203	4300	6503	SO:0001583	missense	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28230277C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1297G>A	15.37:g.28230277C>T	ENSP00000346659:p.Ala433Thr		Somatic				OCA2_ENST00000353809.5_Missense_Mutation_p.A409T|OCA2_ENST00000382996.2_Missense_Mutation_p.A433T	p.A433T	NM_000275.2	NP_000266.2	WXS	Illumina GAIIx	Phase_I	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	13	1452	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	433					Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.1297G>A	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797073	0.31777	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.90900	-2.75;-2.75;-2.75	5.2	5.2	0.72013	Divalent ion symporter (1);	0.000000	0.85682	D	0.000000	T	0.80121	0.4565	N	0.00815	-1.16	0.53688	D	0.999974	P;P	0.46277	0.525;0.875	B;P	0.52217	0.072;0.693	T	0.80197	-0.1482	10	0.02654	T	1	-11.1821	18.0938	0.89482	0.0:1.0:0.0:0.0	.	409;433	Q04671-2;Q04671	.;P_HUMAN	T	433;409;433	ENSP00000346659:A433T;ENSP00000261276:A409T;ENSP00000372457:A433T	ENSP00000261276:A409T	A	-	1	0	OCA2	25903872	1.000000	0.71417	0.749000	0.31150	0.460000	0.32559	7.083000	0.76859	2.576000	0.86940	0.655000	0.94253	GCG		0.597	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		5	78	0	0	0	0.029380	0	5	78				
DNM1P47	100216544	broad.mit.edu	37	15	102292785	102292785	+	RNA	SNP	C	C	G	rs61084368|rs143389223	byFrequency	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:102292785C>G	ENST00000561463.1	+	0	831									DNM1 pseudogene 47									p.Q125E(1)									TGCTGCTTCTCAGAGCTGCTG	0.602																																						ENST00000561463.1																			1	Substitution - Missense(1)	p.Q125E(1)	kidney(1)																																																100216544							g.chr15:102292785C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292785C>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	831	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.602	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		6	36	0	0	0	0.038147	0	6	36				
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs202140854	byFrequency	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CTTACATCCAGCTTGAGTAGT	0.259																																						ENST00000546471.1																			0																																																			730092							g.chr16:21817457G>A			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817457G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	1601	-								A8K6T4|B3KWX9|O75704	RNA	SNP	ENST00000546471.1	37																																																																																						0.259	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		6	36	0	0	0	0.021553	0	6	36				
TEX264	51368	broad.mit.edu	37	3	51708285	51708285	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:51708285A>T	ENST00000415259.1	+	2	1047		c.e2-1		TEX264_ENST00000416589.1_Splice_Site|TEX264_ENST00000395057.1_Splice_Site|TEX264_ENST00000341333.5_Splice_Site|TEX264_ENST00000457573.1_Splice_Site			Q9Y6I9	TX264_HUMAN	testis expressed 264							extracellular vesicular exosome (GO:0070062)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		TCTCCTTTGCAGCTGCCTTGA	0.587																																						ENST00000415259.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7						c.e2-1		testis expressed 264							50.0	53.0	52.0					3																	51708285		2202	4300	6502	SO:0001630	splice_region_variant	51368					extracellular region		g.chr3:51708285A>T	AF072733	CCDS2833.1, CCDS74945.1	3p21	2007-03-13	2007-03-13		ENSG00000164081	ENSG00000164081			30247	protein-coding gene	gene with protein product			"""testis expressed gene 264"", ""testis expressed sequence 264"""			12975309	Standard	NM_001243725		Approved	ZSIG11, FLJ13935	uc003dbm.4	Q9Y6I9	OTTHUMG00000156901	ENST00000415259.1:c.-34-1A>T	3.37:g.51708285A>T			Somatic				TEX264_ENST00000341333.5_Splice_Site|TEX264_ENST00000457573.1_Splice_Site|TEX264_ENST00000416589.1_Splice_Site|TEX264_ENST00000395057.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9Y6I9	TX264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)	2	1047	+								B3KN87|Q9UKD7	Splice_Site	SNP	ENST00000415259.1	37		CCDS2833.1																																																																																				0.587	TEX264-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346530.1	NM_015926	Intron	32	118	0	0	0	0.054565	0	32	118				
MAP3K13	9175	broad.mit.edu	37	3	185198109	185198109	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:185198109G>C	ENST00000265026.3	+	13	2925	c.2591G>C	c.(2590-2592)aGt>aCt	p.S864T	MAP3K13_ENST00000446828.1_Missense_Mutation_p.S657T|MAP3K13_ENST00000443863.1_Missense_Mutation_p.S720T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.S720T|TMEM41A_ENST00000475480.1_5'UTR|MAP3K13_ENST00000424227.1_Missense_Mutation_p.S864T	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GGAAATACCAGTGACCACTCA	0.488																																						ENST00000265026.3																			0				NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2590-2592)aGt>aCt		mitogen-activated protein kinase kinase kinase 13							100.0	98.0	99.0					3																	185198109		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185198109G>C	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.2591G>C	3.37:g.185198109G>C	ENSP00000265026:p.Ser864Thr		Somatic				MAP3K13_ENST00000424227.1_Missense_Mutation_p.S864T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.S720T|TMEM41A_ENST00000475480.1_5'UTR|MAP3K13_ENST00000446828.1_Missense_Mutation_p.S657T|MAP3K13_ENST00000443863.1_Missense_Mutation_p.S720T	p.S864T	NM_004721.4	NP_004712.1	WXS	Illumina GAIIx	Phase_I	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		13	2925	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		864						Missense_Mutation	SNP	ENST00000265026.3	37	c.2591G>C	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.289597	0.80914	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.22975	0.0555	N	0.12182	0.205	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.78314	0.991;0.991;0.98	T	0.13683	-1.0500	10	0.39692	T	0.17	.	19.8657	0.96803	0.0:0.0:1.0:0.0	.	720;657;864	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	T	657;864;720;720;864	ENSP00000411483:S657T;ENSP00000399910:S864T;ENSP00000409325:S720T;ENSP00000439257:S720T;ENSP00000265026:S864T	ENSP00000265026:S864T	S	+	2	0	MAP3K13	186680803	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	9.804000	0.99143	2.686000	0.91538	0.655000	0.94253	AGT		0.488	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		7	276	0	0	0	0.029380	0	7	276				
MT-CO1	4512	broad.mit.edu	37	M	6564	6564	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chrM:6564G>A	ENST00000361624.2	+	1	661	c.661G>A	c.(661-663)Gac>Aac	p.D221N	MT-CO3_ENST00000362079.2_5'Flank|MT-TS1_ENST00000387416.2_RNA|MT-TN_ENST00000387400.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-CO2_ENST00000361739.1_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-TK_ENST00000387421.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	221					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CCACCTTCTTCGACCCCGCCG	0.488																																						ENST00000361624.2																			0				breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						c.(661-663)Gac>Aac		mitochondrially encoded cytochrome c oxidase I																																				SO:0001583	missense	4512							g.chrM:6564G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.661G>A	M.37:g.6564G>A	ENSP00000354499:p.Asp221Asn		Somatic					p.221_221insN			WXS	Illumina GAIIx	Phase_I					1	661	+								Q34770	Missense_Mutation	SNP	ENST00000361624.2	37	c.661G>A																																																																																					0.488	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		4	62	0	0	0	0.014758	0	4	62				
JMJD7	100137047	broad.mit.edu	37	15	42127000	42127000	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:42127000C>T	ENST00000397299.4	+	2	167	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.R43W|PLA2G4B_ENST00000452633.1_5'Flank|JMJD7_ENST00000405106.2_3'UTR|JMJD7_ENST00000408047.1_Intron|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.R43W|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R43W	NM_001114632.1	NP_001108104.1	P0C870	JMJD7_HUMAN	jumonji domain containing 7	43										NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	8						CCACTTCTACCGGGACTGGGT	0.602																																						ENST00000382448.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.(127-129)Cgg>Tgg									111.0	109.0	110.0					15																	42127000		2203	4300	6503	SO:0001583	missense	8681				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42127000C>T		CCDS45240.1	15q15.1	2011-02-10			ENSG00000243789	ENSG00000243789			34397	protein-coding gene	gene with protein product							Standard	NM_001114632		Approved			P0C870	OTTHUMG00000156810	ENST00000397299.4:c.127C>T	15.37:g.42127000C>T	ENSP00000380467:p.Arg43Trp		Somatic				JMJD7_ENST00000408047.1_Intron|JMJD7-PLA2G4B_ENST00000542534.1_Missense_Mutation_p.R43W|JMJD7_ENST00000405106.2_3'UTR|JMJD7_ENST00000397299.4_Missense_Mutation_p.R43W|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R43W	p.R43W	NM_005090.3	NP_005081.1	WXS	Illumina GAIIx	Phase_I	P0C869	PA24B_HUMAN			2	136	+			0			C2.		A5D6V5|O95712|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000397299.4	37	c.127C>T	CCDS45240.1	.	.	.	.	.	.	.	.	.	.	.	25.0	4.596383	0.86953	.	.	ENSG00000243789;ENSG00000168970;ENSG00000168970;ENSG00000168970	ENST00000397299;ENST00000542534;ENST00000382448;ENST00000342159	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	4.24	2.13	0.27403	.	0.000000	0.47455	D	0.000232	D	0.86460	0.5938	M	0.93898	3.47	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.973;0.997;0.999	D	0.89347	0.3658	10	0.72032	D	0.01	0.4641	12.7778	0.57459	0.2929:0.707:0.0:0.0	.	43;43;43	P0C869-7;P0C869-6;P0C870	.;.;JMJD7_HUMAN	W	43	ENSP00000380467:R43W;ENSP00000441905:R43W;ENSP00000371886:R43W;ENSP00000342785:R43W	ENSP00000380467:R43W	R	+	1	2	JMJD7-PLA2G4B;JMJD7	39914292	1.000000	0.71417	0.999000	0.59377	0.911000	0.54048	2.165000	0.42396	1.100000	0.41517	0.655000	0.94253	CGG		0.602	JMJD7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326082.1	NM_001114632		12	189	0	0	0	0.093190	0	12	189				
TUSC5	286753	broad.mit.edu	37	17	1183365	1183365	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:1183365C>T	ENST00000333813.3	+	1	409	c.70C>T	c.(70-72)Ccg>Tcg	p.P24S		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	24					response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCTGGACCTGCCGGAGATGGA	0.627																																						ENST00000333813.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15						c.(70-72)Ccg>Tcg		tumor suppressor candidate 5							54.0	59.0	57.0					17																	1183365		1974	4151	6125	SO:0001583	missense	286753				response to biotic stimulus	integral to membrane		g.chr17:1183365C>T	AB090231	CCDS42225.1	17p13.3	2009-10-16			ENSG00000184811	ENSG00000184811			29592	protein-coding gene	gene with protein product	"""located at seventeen p thirteen point three 1"", ""interferon induced transmembrane protein domain containing 3"""	612211				12660825	Standard	NM_172367		Approved	LOST1, IFITMD3	uc002fsi.1	Q8IXB3	OTTHUMG00000132196	ENST00000333813.3:c.70C>T	17.37:g.1183365C>T	ENSP00000329548:p.Pro24Ser		Somatic					p.P24S	NM_172367.2	NP_758955.2	WXS	Illumina GAIIx	Phase_I	Q8IXB3	TUSC5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	1	409	+			24					A6NMK4	Missense_Mutation	SNP	ENST00000333813.3	37	c.70C>T	CCDS42225.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154862	0.57259	.	.	ENSG00000184811	ENST00000333813	T	0.70282	-0.47	5.38	5.38	0.77491	.	0.305967	0.31290	U	0.007912	T	0.62307	0.2417	L	0.57536	1.79	0.44927	D	0.997944	P	0.38922	0.651	B	0.28139	0.086	T	0.62751	-0.6788	10	0.12766	T	0.61	-15.8795	17.7493	0.88429	0.0:1.0:0.0:0.0	.	24	Q8IXB3	TUSC5_HUMAN	S	24	ENSP00000329548:P24S	ENSP00000329548:P24S	P	+	1	0	TUSC5	1130115	0.953000	0.32496	0.980000	0.43619	0.602000	0.36980	2.963000	0.49184	2.558000	0.86282	0.537000	0.68136	CCG		0.627	TUSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255249.1	NM_172367		4	117	0	0	0	0.009096	0	4	117				
SLC25A21	89874	broad.mit.edu	37	14	37194883	37194883	+	Splice_Site	SNP	C	C	G			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:37194883C>G	ENST00000331299.5	-	6	846		c.e6-1		SLC25A21_ENST00000555449.1_Splice_Site	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21						cellular nitrogen compound metabolic process (GO:0034641)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TGGCGAATGTCTAGAAAAATT	0.358																																						ENST00000331299.5																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9						c.e6-1		solute carrier family 25 (mitochondrial oxoadipate carrier), member 21							74.0	71.0	72.0					14																	37194883		2203	4300	6503	SO:0001630	splice_region_variant	89874				lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding	g.chr14:37194883C>G	AJ278148	CCDS9663.1, CCDS55913.1	14q13.3	2014-01-28	2012-03-29		ENSG00000183032	ENSG00000183032		"""Solute carriers"""	14411	protein-coding gene	gene with protein product		607571	"""solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21"""			11083877	Standard	NM_030631		Approved	ODC1, ODC	uc001wtz.2	Q9BQT8	OTTHUMG00000140250	ENST00000331299.5:c.331-1G>C	14.37:g.37194883C>G			Somatic				SLC25A21_ENST00000555449.1_Splice_Site		NM_030631.3	NP_085134.1	WXS	Illumina GAIIx	Phase_I	Q9BQT8	ODC_HUMAN	Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)	6	846	-	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)							A8K0L0|G3V4L5|Q3MJ99	Splice_Site	SNP	ENST00000331299.5	37		CCDS9663.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848068	0.51164	.	.	ENSG00000183032	ENST00000555449;ENST00000331299	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3324	0.94297	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC25A21	36264634	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	5.940000	0.70187	2.569000	0.86673	0.650000	0.86243	.		0.358	SLC25A21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276732.2	NM_030631	Intron	12	124	0	0	0	0.080935	0	12	124				
MT-ND6	4541	broad.mit.edu	37	M	14312	14312	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chrM:14312A>G	ENST00000361681.2	-	1	361	c.362T>C	c.(361-363)gTa>gCa	p.V121A	MT-TH_ENST00000387441.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TE_ENST00000387459.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TT_ENST00000387460.2_RNA|MT-TS2_ENST00000387449.1_RNA			P03923	NU6M_HUMAN	mitochondrially encoded NADH dehydrogenase 6	121					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						TTCAGCTTCCTACACTATTAA	0.468																																						ENST00000361681.2																			0				breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						c.(361-363)gTa>gCa		mitochondrially encoded NADH dehydrogenase 6																																				SO:0001583	missense	4541							g.chrM:14312A>G			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198695	ENSG00000198695	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7462	protein-coding gene	gene with protein product	"""complex I ND6 subunit"", ""NADH-ubiquinone oxidoreductase chain 6"""	516006	"""NADH dehydrogenase 6"""	MTND6			Standard			Approved	NAD6, ND6		P03923		ENST00000361681.2:c.362T>C	M.37:g.14312A>G	ENSP00000354665:p.Val121Ala		Somatic					p.V121A			WXS	Illumina GAIIx	Phase_I					1	361	-								Q34774|Q8HG30	Missense_Mutation	SNP	ENST00000361681.2	37	c.362T>C																																																																																					0.468	MT-ND6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024037		15	41	0	0	0	0.033300	0	15	41				
TMEM108	66000	broad.mit.edu	37	3	133098622	133098622	+	Missense_Mutation	SNP	G	G	A	rs367779843		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:133098622G>A	ENST00000321871.6	+	4	277	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	TMEM108_ENST00000515826.1_Missense_Mutation_p.E23K|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.E23K	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	23						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCACTGACCGAAGCGCTGGC	0.552																																						ENST00000515826.1																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(67-69)Gaa>Aaa		transmembrane protein 108			LYS/GLU,LYS/GLU	0,4406		0,0,2203	299.0	312.0	307.0		67,67	3.5	0.8	3		307	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TMEM108	NM_023943.2,NM_001136469.1	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	23/576,23/576	133098622	1,13005	2203	4300	6503	SO:0001583	missense	66000					integral to membrane		g.chr3:133098622G>A	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.67G>A	3.37:g.133098622G>A	ENSP00000324651:p.Glu23Lys		Somatic				TMEM108_ENST00000321871.6_Missense_Mutation_p.E23K|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.E23K	p.E23K			WXS	Illumina GAIIx	Phase_I	Q6UXF1	TM108_HUMAN			3	190	+			23					D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	c.67G>A	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	g	15.14	2.744866	0.49151	0.0	1.16E-4	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000512137;ENST00000511555;ENST00000515826;ENST00000510183	T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64	4.41	3.52	0.40303	.	0.237850	0.21829	N	0.068514	T	0.30854	0.0778	N	0.22421	0.69	0.09310	N	0.999998	B;B	0.24132	0.098;0.098	B;B	0.16722	0.016;0.016	T	0.16188	-1.0411	10	0.39692	T	0.17	-2.7734	9.0831	0.36565	0.0849:0.1477:0.7675:0.0	.	23;23	E9PB58;Q6UXF1	.;TM108_HUMAN	K	23	ENSP00000324651:E23K;ENSP00000376838:E23K;ENSP00000426301:E23K;ENSP00000422196:E23K;ENSP00000423338:E23K;ENSP00000421486:E23K	ENSP00000324651:E23K	E	+	1	0	TMEM108	134581312	1.000000	0.71417	0.836000	0.33094	0.844000	0.47949	5.439000	0.66556	0.955000	0.37878	0.556000	0.70494	GAA		0.552	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		20	824	0	0	0	0.043863	0	20	824				
AMER3	205147	broad.mit.edu	37	2	131520926	131520926	+	Silent	SNP	C	C	T	rs532564436		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:131520926C>T	ENST00000423981.1	+	2	1391	c.1281C>T	c.(1279-1281)caC>caT	p.H427H	AMER3_ENST00000321420.4_Silent_p.H427H	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	427					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										AGCTCTTCCACGACCCCAGCG	0.637													c|||	1	0.000199681	0.0008	0.0	5008	,	,		14930	0.0		0.0	False		,,,				2504	0.0					ENST00000423981.1																			0											c.(1279-1281)caC>caT		APC membrane recruitment protein 3							45.0	43.0	43.0					2																	131520926		2203	4300	6503	SO:0001819	synonymous_variant	205147							g.chr2:131520926C>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1281C>T	2.37:g.131520926C>T			Somatic				AMER3_ENST00000321420.4_Silent_p.H427H	p.H427H	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	WXS	Illumina GAIIx	Phase_I					2	1391	+								B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.1281C>T	CCDS2164.1																																																																																				0.637	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		25	46	0	0	0	0.116897	0	25	46				
MKI67	4288	broad.mit.edu	37	10	129906236	129906236	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:129906236G>A	ENST00000368654.3	-	13	4243	c.3868C>T	c.(3868-3870)Cca>Tca	p.P1290S	MKI67_ENST00000368653.3_Missense_Mutation_p.P930S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1290	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCTGCTGATGGCATTAGATTC	0.488																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(3868-3870)Cca>Tca		marker of proliferation Ki-67							278.0	259.0	266.0					10																	129906236		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906236G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3868C>T	10.37:g.129906236G>A	ENSP00000357643:p.Pro1290Ser		Somatic				MKI67_ENST00000368653.3_Missense_Mutation_p.P930S	p.P1290S	NM_002417.4	NP_002408.3	WXS	Illumina GAIIx	Phase_I	P46013	KI67_HUMAN			13	4243	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1290			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.3868C>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.240325	0.22711	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02032	4.49;4.49	2.59	-0.756	0.11057	.	1.241230	0.06249	N	0.691759	T	0.03263	0.0095	L	0.44542	1.39	0.09310	N	1	B;B;P	0.52170	0.254;0.254;0.951	B;B;P	0.51615	0.089;0.089;0.675	T	0.38286	-0.9668	10	0.12103	T	0.63	.	1.8535	0.03174	0.1143:0.1818:0.2362:0.4677	.	1289;930;1290	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	S	1290;930;1289	ENSP00000357643:P1290S;ENSP00000357642:P930S	ENSP00000357642:P930S	P	-	1	0	MKI67	129796226	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.294000	0.19047	-0.159000	0.11021	-0.314000	0.08810	CCA		0.488	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		9	1184	0	0	0	1	0	9	1184				
RP11-24M17.5	0	broad.mit.edu	37	15	76075500	76075500	+	RNA	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:76075500G>A	ENST00000395215.3	+	0	1140				RN7SL319P_ENST00000480656.2_RNA																							gagaggctgcgaaaggaggag	0.607																																						ENST00000395215.3																			0																																																			0							g.chr15:76075500G>A																													15.37:g.76075500G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	1140	+									RNA	SNP	ENST00000395215.3	37																																																																																						0.607	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			14	150	0	0	0	1	0	14	150				
SLC10A4	201780	broad.mit.edu	37	4	48490662	48490662	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:48490662T>C	ENST00000273861.4	+	3	1239	c.1020T>C	c.(1018-1020)aaT>aaC	p.N340N	ZAR1_ENST00000327939.4_5'Flank	NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	340						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						GTAGTCAGAATGTGCAGCTCT	0.468																																						ENST00000273861.4																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						c.(1018-1020)aaT>aaC		solute carrier family 10, member 4							140.0	135.0	136.0					4																	48490662		2203	4300	6503	SO:0001819	synonymous_variant	201780					integral to membrane	bile acid:sodium symporter activity	g.chr4:48490662T>C	BC012048	CCDS3482.1	4p12	2013-07-18	2013-07-18		ENSG00000145248	ENSG00000145248		"""Solute carriers"""	22980	protein-coding gene	gene with protein product							Standard	NM_152679		Approved	MGC29802	uc003gyc.2	Q96EP9	OTTHUMG00000102092	ENST00000273861.4:c.1020T>C	4.37:g.48490662T>C			Somatic					p.N340N	NM_152679.3	NP_689892.1	WXS	Illumina GAIIx	Phase_I	Q96EP9	NTCP4_HUMAN			3	1239	+			340					Q8WUZ2	Silent	SNP	ENST00000273861.4	37	c.1020T>C	CCDS3482.1																																																																																				0.468	SLC10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219926.3	NM_152679		4	193	0	0	0	1	0	4	193				
GPR64	10149	broad.mit.edu	37	X	19018058	19018058	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:19018058T>C	ENST00000379869.3	-	25	2414	c.2251A>G	c.(2251-2253)Acc>Gcc	p.T751A	GPR64_ENST00000360279.4_Missense_Mutation_p.T729A|GPR64_ENST00000379878.3_Missense_Mutation_p.T735A|GPR64_ENST00000357544.3_Missense_Mutation_p.T721A|GPR64_ENST00000340581.3_Missense_Mutation_p.T632A|GPR64_ENST00000356606.4_Missense_Mutation_p.T737A|GPR64_ENST00000379876.1_Missense_Mutation_p.T727A|GPR64_ENST00000379873.2_Missense_Mutation_p.T751A|GPR64_ENST00000354791.3_Missense_Mutation_p.T735A|GPR64_ENST00000357991.3_Missense_Mutation_p.T748A	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	751					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AGGATGATGGTCACAACCACA	0.453																																						ENST00000379878.3																			0				breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42						c.(2203-2205)Acc>Gcc		G protein-coupled receptor 64							161.0	138.0	145.0					X																	19018058		2203	4300	6503	SO:0001583	missense	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19018058T>C	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.2251A>G	X.37:g.19018058T>C	ENSP00000369198:p.Thr751Ala		Somatic				GPR64_ENST00000379876.1_Missense_Mutation_p.T727A|GPR64_ENST00000357991.3_Missense_Mutation_p.T748A|GPR64_ENST00000340581.3_Missense_Mutation_p.T632A|GPR64_ENST00000357544.3_Missense_Mutation_p.T721A|GPR64_ENST00000379873.2_Missense_Mutation_p.T751A|GPR64_ENST00000360279.4_Missense_Mutation_p.T729A|GPR64_ENST00000379869.3_Missense_Mutation_p.T751A|GPR64_ENST00000354791.3_Missense_Mutation_p.T735A|GPR64_ENST00000356606.4_Missense_Mutation_p.T737A	p.T735A	NM_001184833.1	NP_001171762.1	WXS	Illumina GAIIx	Phase_I	Q8IZP9	GPR64_HUMAN			24	2444	-	Hepatocellular(33;0.183)		751					B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	c.2203A>G	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	T	2.185	-0.386585	0.04966	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25;1.25	5.87	-1.81	0.07882	GPCR, family 2-like (1);	0.784141	0.11474	N	0.560435	T	0.09468	0.0233	N	0.00960	-1.095	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B	0.14012	0.009;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B	0.15052	0.012;0.001;0.003;0.001;0.001;0.002;0.003;0.003;0.003;0.002;0.006	T	0.33828	-0.9853	10	0.02654	T	1	.	8.6184	0.33847	0.3492:0.5402:0.0:0.1106	.	632;713;721;727;735;751;729;737;748;751;735	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	A	751;735;735;727;721;751;729;748;737;632	ENSP00000369202:T751A;ENSP00000369207:T735A;ENSP00000346845:T735A;ENSP00000369205:T727A;ENSP00000350152:T721A;ENSP00000369198:T751A;ENSP00000353421:T729A;ENSP00000350680:T748A;ENSP00000349015:T737A;ENSP00000344972:T632A	ENSP00000344972:T632A	T	-	1	0	GPR64	18927979	0.021000	0.18746	0.003000	0.11579	0.985000	0.73830	-0.033000	0.12246	-0.762000	0.04664	0.486000	0.48141	ACC		0.453	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			5	175	0	0	0	1	0	5	175				
CA14	23632	broad.mit.edu	37	1	150237049	150237049	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:150237049C>A	ENST00000369111.4	+	11	1974	c.1004C>A	c.(1003-1005)aCt>aAt	p.T335N	snoU13_ENST00000458929.1_RNA|APH1A_ENST00000461320.1_5'Flank	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	335					bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	CAAGCCACGACTGAGGCATAA	0.478																																						ENST00000369111.4																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18						c.(1003-1005)aCt>aAt		carbonic anhydrase XIV							94.0	75.0	82.0					1																	150237049		2203	4300	6503	SO:0001583	missense	23632					integral to membrane	carbonate dehydratase activity|metal ion binding	g.chr1:150237049C>A	AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"""Carbonic anhydrases"""	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.1004C>A	1.37:g.150237049C>A	ENSP00000358107:p.Thr335Asn		Somatic					p.T335N	NM_012113.1	NP_036245.1	WXS	Illumina GAIIx	Phase_I	Q9ULX7	CAH14_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		11	1974	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		335					Q5TB24|Q8NCF4	Missense_Mutation	SNP	ENST00000369111.4	37	c.1004C>A	CCDS947.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777413	0.49786	.	.	ENSG00000118298	ENST00000369111	T	0.67523	-0.27	3.48	3.48	0.39840	.	0.207931	0.39210	N	0.001437	T	0.30510	0.0767	N	0.19112	0.55	0.09310	N	0.999999	P	0.35155	0.487	B	0.34346	0.18	T	0.08953	-1.0697	10	0.34782	T	0.22	.	10.3447	0.43899	0.0:1.0:0.0:0.0	.	335	Q9ULX7	CAH14_HUMAN	N	335	ENSP00000358107:T335N	ENSP00000358107:T335N	T	+	2	0	CA14	148503673	0.005000	0.15991	0.036000	0.18154	0.714000	0.41099	1.120000	0.31271	1.757000	0.51966	0.655000	0.94253	ACT		0.478	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035064.2	NM_012113		39	169	1	0	4.90955e-16	1	6.64618e-16	39	169				
SLC9A9	285195	broad.mit.edu	37	3	143292951	143292951	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:143292951C>T	ENST00000316549.6	-	8	1187	c.979G>A	c.(979-981)Gcc>Acc	p.A327T		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	327					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GCAGCCTCGGCAGACAGGAAG	0.532																																						ENST00000316549.6																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						c.(979-981)Gcc>Acc		solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9							58.0	57.0	57.0					3																	143292951		2203	4300	6503	SO:0001583	missense	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143292951C>T	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.979G>A	3.37:g.143292951C>T	ENSP00000320246:p.Ala327Thr		Somatic					p.A327T	NM_173653.3	NP_775924.1	WXS	Illumina GAIIx	Phase_I	Q8IVB4	SL9A9_HUMAN			8	1187	-			327					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	c.979G>A	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600876	0.87055	.	.	ENSG00000181804	ENST00000316549;ENST00000450105	T	0.20598	2.06	5.39	4.51	0.55191	Cation/H+ exchanger (1);	0.176994	0.38605	N	0.001634	T	0.51346	0.1669	M	0.93241	3.395	0.80722	D	1	P	0.43938	0.822	P	0.53360	0.724	T	0.66069	-0.6015	10	0.87932	D	0	.	16.0856	0.81045	0.0:0.8656:0.1344:0.0	.	327	Q8IVB4	SL9A9_HUMAN	T	327;210	ENSP00000320246:A327T	ENSP00000320246:A327T	A	-	1	0	SLC9A9	144775641	1.000000	0.71417	0.965000	0.40720	0.810000	0.45777	7.299000	0.78831	1.253000	0.44018	-0.300000	0.09419	GCC		0.532	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		5	91	0	0	0	1	0	5	91				
FAM66D	100132923	broad.mit.edu	37	8	11986719	11986719	+	RNA	SNP	G	G	C	rs182717706	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:11986719G>C	ENST00000434078.2	+	0	608					NR_027425.1				family with sequence similarity 66, member D																		TGGATTTCAGGAAAAGCTGCA	0.522													C|||	6	0.00119808	0.003	0.0	5008	,	,		23680	0.0		0.0	False		,,,				2504	0.002					ENST00000434078.2																			0																																																			100132923							g.chr8:11986719G>C			8p23.1	2013-07-05			ENSG00000255052	ENSG00000255052		"""Long non-coding RNAs"""	24159	non-coding RNA	RNA, long non-coding							Standard	NR_027425		Approved				OTTHUMG00000165269		8.37:g.11986719G>C			Somatic						NR_027425.1		WXS	Illumina GAIIx	Phase_I					0	608	+									RNA	SNP	ENST00000434078.2	37																																																																																						0.522	FAM66D-201	KNOWN	basic	antisense	antisense		NR_027425		3	88	0	0	0	1	0	3	88				
AGAP3	116988	broad.mit.edu	37	7	150839661	150839661	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:150839661C>T	ENST00000463381.1	+	14	1716	c.1220C>T	c.(1219-1221)gCc>gTc	p.A407V	AGAP3_ENST00000397238.2_Missense_Mutation_p.A738V	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	702	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						AATGCCCTCGCCAACAGCGTC	0.667																																						ENST00000397238.2																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(2212-2214)gCc>gTc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3							39.0	43.0	42.0					7																	150839661		2055	4214	6269	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150839661C>T	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1220C>T	7.37:g.150839661C>T	ENSP00000418016:p.Ala407Val		Somatic				AGAP3_ENST00000463381.1_Missense_Mutation_p.A407V	p.A738V	NM_031946.4	NP_114152.3	WXS	Illumina GAIIx	Phase_I	Q96P47	AGAP3_HUMAN			16	2213	+			702			Arf-GAP.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37	c.2213C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.7|28.7	4.943058|4.943058	0.92526|0.92526	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355|ENST00000461065	T;T|.	0.47528|.	0.84;0.84|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.119078|.	0.56097|.	D|.	0.000028|.	T|T	0.70692|0.70692	0.3253|0.3253	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	P;B;P;P|.	0.51351|.	0.944;0.374;0.843;0.856|.	D;B;P;P|.	0.66716|.	0.946;0.349;0.588;0.454|.	T|T	0.68198|0.68198	-0.5472|-0.5472	10|5	0.62326|.	D|.	0.03|.	.|.	17.7926|17.7926	0.88558|0.88558	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	702;237;738;407|.	Q96P47;E7ETI2;Q96P47-4;B3KNZ8|.	AGAP3_HUMAN;.;.;.|.	V|S	407;237;738;702|231	ENSP00000418016:A407V;ENSP00000380413:A738V|.	ENSP00000334157:A702V|.	A|P	+|+	2|1	0|0	AGAP3|AGAP3	150470594|150470594	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	7.678000|7.678000	0.84035|0.84035	2.445000|2.445000	0.82738|0.82738	0.561000|0.561000	0.74099|0.74099	GCC|CCA		0.667	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		17	37	0	0	0	1	0	17	37				
NADSYN1	55191	broad.mit.edu	37	11	71208625	71208625	+	Missense_Mutation	SNP	G	G	A	rs202246678		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:71208625G>A	ENST00000319023.2	+	19	2049	c.1861G>A	c.(1861-1863)Ggc>Agc	p.G621S	NADSYN1_ENST00000530055.1_Missense_Mutation_p.G250S|NADSYN1_ENST00000539574.1_Missense_Mutation_p.G361S	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	621	Ligase. {ECO:0000250}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	CAAACTCCTCGGCATGTGGAG	0.547													.|||	1	0.000199681	0.0	0.0	5008	,	,		20203	0.001		0.0	False		,,,				2504	0.0				Ovarian(79;763 1781 6490 50276)	ENST00000319023.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1861-1863)Ggc>Agc		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	G	SER/GLY	0,4400		0,0,2200	122.0	115.0	117.0		1861	-2.3	0.0	11		117	1,8587		0,1,4293	yes	missense	NADSYN1	NM_018161.4	56	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	benign	621/707	71208625	1,12987	2200	4294	6494	SO:0001583	missense	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71208625G>A	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.1861G>A	11.37:g.71208625G>A	ENSP00000326424:p.Gly621Ser		Somatic				NADSYN1_ENST00000530055.1_Missense_Mutation_p.G250S|NADSYN1_ENST00000539574.1_Missense_Mutation_p.G361S	p.G621S	NM_018161.4	NP_060631.2	WXS	Illumina GAIIx	Phase_I	Q6IA69	NADE_HUMAN			19	2049	+			621			Ligase (By similarity).		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	c.1861G>A	CCDS8201.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	11.84	1.757723	0.31137	0.0	1.16E-4	ENSG00000172890	ENST00000319023;ENST00000539574;ENST00000530055	T;T;T	0.28454	2.62;2.04;1.61	4.81	-2.32	0.06745	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.706620	0.13912	N	0.354169	T	0.05547	0.0146	N	0.00399	-1.545	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.32188	-0.9916	10	0.12766	T	0.61	-3.0417	2.4277	0.04463	0.2578:0.4408:0.173:0.1284	.	361;621	B3KUU4;Q6IA69	.;NADE_HUMAN	S	621;361;250	ENSP00000326424:G621S;ENSP00000443718:G361S;ENSP00000431820:G250S	ENSP00000326424:G621S	G	+	1	0	NADSYN1	70886273	0.268000	0.24133	0.000000	0.03702	0.168000	0.22595	0.665000	0.25083	-0.794000	0.04468	-0.469000	0.05056	GGC		0.547	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		8	569	0	0	0	1	0	8	569				
TMEM42	131616	broad.mit.edu	37	3	44906548	44906548	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:44906548T>C	ENST00000302392.4	+	3	412	c.356T>C	c.(355-357)gTg>gCg	p.V119A		NM_144638.1	NP_653239.1	Q69YG0	TMM42_HUMAN	transmembrane protein 42	119						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00839)|KIRC - Kidney renal clear cell carcinoma(197;0.0461)|Kidney(197;0.0576)		CTGGGCTATGTGCTGTATGGA	0.557																																						ENST00000302392.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8						c.(355-357)gTg>gCg		transmembrane protein 42							191.0	154.0	167.0					3																	44906548		2203	4300	6503	SO:0001583	missense	131616					integral to membrane		g.chr3:44906548T>C	AL834253	CCDS2722.1	3p21.31	2005-01-19			ENSG00000169964	ENSG00000169964			28444	protein-coding gene	gene with protein product						12477932	Standard	NM_144638		Approved	MGC29956	uc003cnz.3	Q69YG0	OTTHUMG00000133092	ENST00000302392.4:c.356T>C	3.37:g.44906548T>C	ENSP00000306564:p.Val119Ala		Somatic					p.V119A	NM_144638.1	NP_653239.1	WXS	Illumina GAIIx	Phase_I	Q69YG0	TMM42_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00839)|KIRC - Kidney renal clear cell carcinoma(197;0.0461)|Kidney(197;0.0576)	3	412	+			119					Q8WUQ6	Missense_Mutation	SNP	ENST00000302392.4	37	c.356T>C	CCDS2722.1	.	.	.	.	.	.	.	.	.	.	T	13.31	2.197973	0.38806	.	.	ENSG00000169964	ENST00000302392	T	0.09817	2.94	4.39	1.9	0.25705	.	0.902531	0.09268	N	0.825607	T	0.09512	0.0234	L	0.39245	1.2	0.26026	N	0.981801	B	0.02656	0.0	B	0.04013	0.001	T	0.35847	-0.9772	10	0.35671	T	0.21	-9.2682	6.8367	0.23941	0.0:0.1911:0.0:0.8089	.	119	Q69YG0	TMM42_HUMAN	A	119	ENSP00000306564:V119A	ENSP00000306564:V119A	V	+	2	0	TMEM42	44881552	0.971000	0.33674	0.986000	0.45419	0.996000	0.88848	0.924000	0.28777	0.205000	0.20568	0.459000	0.35465	GTG		0.557	TMEM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256750.2	NM_144638		6	476	0	0	0	1	0	6	476				
SETX	23064	broad.mit.edu	37	9	135158714	135158714	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:135158714T>C	ENST00000224140.5	-	19	6665	c.6483A>G	c.(6481-6483)ttA>ttG	p.L2161L	SETX_ENST00000372169.2_Silent_p.L2161L|SETX_ENST00000393220.1_Silent_p.L2161L	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2161					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACTCAAGTAGTAAACCACCAC	0.478																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(6481-6483)ttA>ttG		senataxin							206.0	159.0	175.0					9																	135158714		2203	4300	6503	SO:0001819	synonymous_variant	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135158714T>C	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.6483A>G	9.37:g.135158714T>C			Somatic				SETX_ENST00000393220.1_Silent_p.L2161L|SETX_ENST00000224140.5_Silent_p.L2161L	p.L2161L			WXS	Illumina GAIIx	Phase_I	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	19	6665	-		Myeloproliferative disorder(178;0.204)	2161					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	ENST00000224140.5	37	c.6483A>G	CCDS6947.1																																																																																				0.478	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		48	126	0	0	0	1	0	48	126				
SLC36A1	206358	broad.mit.edu	37	5	150859002	150859002	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:150859002G>T	ENST00000243389.3	+	10	1334	c.1111G>T	c.(1111-1113)Gag>Tag	p.E371*	SLC36A1_ENST00000521925.1_Nonsense_Mutation_p.E371*|RNA5SP197_ENST00000363357.1_RNA|SLC36A1_ENST00000520701.1_Nonsense_Mutation_p.E371*	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	371					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	CGAGCACTGTGAGTTAGTGGT	0.527																																					Melanoma(151;1534 1860 12947 32979 37872)	ENST00000243389.3																			0				endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25						c.(1111-1113)Gag>Tag		solute carrier family 36 (proton/amino acid symporter), member 1	Glycine(DB00145)|L-Alanine(DB00160)						155.0	132.0	140.0					5																	150859002		2203	4300	6503	SO:0001587	stop_gained	206358				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr5:150859002G>T	AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"""Solute carriers"""	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.1111G>T	5.37:g.150859002G>T	ENSP00000243389:p.Glu371*		Somatic				SLC36A1_ENST00000520701.1_Nonsense_Mutation_p.E371*|SLC36A1_ENST00000521925.1_Nonsense_Mutation_p.E371*	p.E371*	NM_078483.2	NP_510968.2	WXS	Illumina GAIIx	Phase_I	Q7Z2H8	S36A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	1334	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	371					C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Nonsense_Mutation	SNP	ENST00000243389.3	37	c.1111G>T	CCDS4316.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693988	0.88735	.	.	ENSG00000123643	ENST00000520701;ENST00000243389;ENST00000456739;ENST00000521925;ENST00000517628	.	.	.	5.77	3.0	0.34707	.	0.704560	0.15063	N	0.282659	.	.	.	.	.	.	0.53005	D	0.999968	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.9518	0.24550	0.206:0.1269:0.6671:0.0	.	.	.	.	X	371;371;371;371;130	.	ENSP00000243389:E371X	E	+	1	0	SLC36A1	150839195	0.725000	0.28048	0.000000	0.03702	0.523000	0.34469	0.997000	0.29731	0.350000	0.24002	0.561000	0.74099	GAG		0.527	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1	NM_078483		20	467	1	0	2.21704e-12	1	2.93873e-12	20	467				
GPR87	53836	broad.mit.edu	37	3	151012468	151012468	+	Missense_Mutation	SNP	A	A	T	rs200796001		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:151012468A>T	ENST00000260843.4	-	3	1030	c.566T>A	c.(565-567)aTc>aAc	p.I189N	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	189					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGTCATGGATATTGTCCTC	0.448																																						ENST00000260843.4																			0				endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19						c.(565-567)aTc>aAc		G protein-coupled receptor 87							121.0	117.0	118.0					3																	151012468		2203	4300	6503	SO:0001583	missense	53836					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151012468A>T	AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"""GPCR / Class A : Orphans"""	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.566T>A	3.37:g.151012468A>T	ENSP00000260843:p.Ile189Asn		Somatic				MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron	p.I189N	NM_023915.3	NP_076404.3	WXS	Illumina GAIIx	Phase_I	Q9BY21	GPR87_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	1030	-			189					Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	37	c.566T>A	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	A	9.794	1.178594	0.21787	.	.	ENSG00000138271	ENST00000260843	T	0.37411	1.2	5.45	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.471725	0.22672	N	0.057051	T	0.23133	0.0559	N	0.11341	0.13	0.09310	N	1	B	0.26041	0.14	B	0.35182	0.197	T	0.27400	-1.0075	10	0.24483	T	0.36	-6.4513	10.8287	0.46649	0.9256:0.0:0.0744:0.0	.	189	Q9BY21	GPR87_HUMAN	N	189	ENSP00000260843:I189N	ENSP00000260843:I189N	I	-	2	0	GPR87	152495158	0.027000	0.19231	0.021000	0.16686	0.003000	0.03518	3.123000	0.50453	1.030000	0.39839	0.533000	0.62120	ATC		0.448	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1			5	489	0	0	0	1	0	5	489				
ZNF57	126295	broad.mit.edu	37	19	2917735	2917735	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:2917735C>A	ENST00000306908.5	+	4	1264	c.1116C>A	c.(1114-1116)gcC>gcA	p.A372A	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Silent_p.A340A	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	372					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGGAAAGCCTTCACTTGGT	0.438																																					NSCLC(150;910 1964 4303 10464 26498)	ENST00000306908.5																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1114-1116)gcC>gcA		zinc finger protein 57							90.0	80.0	83.0					19																	2917735		2203	4300	6503	SO:0001819	synonymous_variant	126295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2917735C>A	M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"""Zinc fingers, C2H2-type"", ""-"""	13125	protein-coding gene	gene with protein product			"""zinc finger protein 424"""	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.1116C>A	19.37:g.2917735C>A			Somatic				ZNF57_ENST00000523428.1_Silent_p.A340A|AC006277.2_ENST00000520090.2_RNA	p.A372A	NM_173480.2	NP_775751.1	WXS	Illumina GAIIx	Phase_I	Q68EA5	ZNF57_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1264	+			372					Q8N6R9	Silent	SNP	ENST00000306908.5	37	c.1116C>A	CCDS12098.1																																																																																				0.438	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1	NM_173480		45	140	1	0	2.18419e-29	1	3.08821e-29	45	140				
SYTL2	54843	broad.mit.edu	37	11	85468686	85468686	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:85468686G>A	ENST00000528231.1	-	1	360	c.83C>T	c.(82-84)gCc>gTc	p.A28V	SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000316356.4_Missense_Mutation_p.A28V|SYTL2_ENST00000389960.4_Missense_Mutation_p.A28V|SYTL2_ENST00000524452.1_Missense_Mutation_p.A28V	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	28	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				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)		CTCTTCTTCGGCCCTCTTCAG	0.478																																						ENST00000316356.4																			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.(82-84)gCc>gTc		synaptotagmin-like 2							236.0	240.0	238.0					11																	85468686		2203	4299	6502	SO:0001583	missense	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.chr11:85468686G>A	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.83C>T	11.37:g.85468686G>A	ENSP00000431701:p.Ala28Val		Somatic				SYTL2_ENST00000528231.1_Missense_Mutation_p.A28V|SYTL2_ENST00000389960.4_Missense_Mutation_p.A28V|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Missense_Mutation_p.A28V	p.A28V			WXS	Illumina GAIIx	Phase_I	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	2	647	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	28			RabBD.		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	c.83C>T	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520197	0.44866	.	.	ENSG00000137501	ENST00000389960;ENST00000316356;ENST00000528231;ENST00000524452	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.46	2.56	0.30785	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	.	.	.	.	T	0.63165	0.2488	N	0.25647	0.755	0.29914	N	0.823313	B;B;B	0.27416	0.178;0.004;0.078	B;B;B	0.28638	0.092;0.011;0.092	T	0.54057	-0.8350	8	.	.	.	.	8.1436	0.31097	0.1467:0.1304:0.7228:0.0	.	28;28;28	Q9HCH5-6;Q9HCH5;Q9HCH5-13	.;SYTL2_HUMAN;.	V	28	ENSP00000374610:A28V;ENSP00000318803:A28V;ENSP00000431701:A28V;ENSP00000435238:A28V	.	A	-	2	0	SYTL2	85146334	0.097000	0.21791	0.079000	0.20413	0.980000	0.70556	2.682000	0.46934	0.264000	0.21851	-0.157000	0.13467	GCC		0.478	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		12	1018	0	0	0	1	0	12	1018				
GPR65	8477	broad.mit.edu	37	14	88477948	88477948	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:88477948G>T	ENST00000267549.3	+	2	1315	c.757G>T	c.(757-759)Gag>Tag	p.E253*	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	253					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						CTGCATTTTAGAGCATGCTGT	0.383																																						ENST00000267549.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						c.(757-759)Gag>Tag		G protein-coupled receptor 65							103.0	94.0	97.0					14																	88477948		2203	4300	6503	SO:0001587	stop_gained	8477				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:88477948G>T	U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"""GPCR / Class A : Orphans"""	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.757G>T	14.37:g.88477948G>T	ENSP00000267549:p.Glu253*		Somatic				RP11-300J18.2_ENST00000554433.1_RNA	p.E253*	NM_003608.3	NP_003599.2	WXS	Illumina GAIIx	Phase_I	Q8IYL9	PSYR_HUMAN			2	1315	+			253					O75819	Nonsense_Mutation	SNP	ENST00000267549.3	37	c.757G>T	CCDS9879.1	.	.	.	.	.	.	.	.	.	.	G	38	6.964540	0.97967	.	.	ENSG00000140030	ENST00000267549	.	.	.	6.16	5.27	0.74061	.	0.871275	0.09841	N	0.748839	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	15.9802	0.80102	0.0651:0.0:0.9349:0.0	.	.	.	.	X	253	.	ENSP00000267549:E253X	E	+	1	0	GPR65	87547701	1.000000	0.71417	0.980000	0.43619	0.408000	0.30992	7.398000	0.79919	2.937000	0.99478	0.650000	0.86243	GAG		0.383	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4			5	252	1	0	1.23904e-05	1	1.45652e-05	5	252				
BLK	640	broad.mit.edu	37	8	11412980	11412980	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:11412980C>A	ENST00000259089.4	+	8	1351	c.759C>A	c.(757-759)ggC>ggA	p.G253G	RP11-148O21.2_ENST00000533322.1_RNA|RP11-148O21.4_ENST00000528629.1_RNA|RP11-148O21.3_ENST00000527922.1_RNA|BLK_ENST00000529894.1_Silent_p.G182G|RP11-148O21.6_ENST00000602626.1_lincRNA	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		GACAATTCGGCGAAGTCTGGA	0.607																																						ENST00000259089.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27						c.(757-759)ggC>ggA		B lymphoid tyrosine kinase							108.0	109.0	109.0					8																	11412980		2203	4300	6503	SO:0001819	synonymous_variant	640				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:11412980C>A	BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"""SH2 domain containing"""	1057	protein-coding gene	gene with protein product		191305	"""B lymphoid tyrosine kinase"""			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.759C>A	8.37:g.11412980C>A			Somatic				BLK_ENST00000529894.1_Silent_p.G182G	p.G253G	NM_001715.2	NP_001706.2	WXS	Illumina GAIIx	Phase_I	P51451	BLK_HUMAN	STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)	8	1351	+			253			Protein kinase.		Q16291|Q96IN1	Silent	SNP	ENST00000259089.4	37	c.759C>A	CCDS5982.1																																																																																				0.607	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1			7	58	1	0	0.335167	1	0.337822	7	58				
MYL1	4632	broad.mit.edu	37	2	211163200	211163200	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:211163200C>T	ENST00000352451.3	-	3	395	c.248G>A	c.(247-249)gGc>gAc	p.G83D	MYL1_ENST00000341685.4_Missense_Mutation_p.G39D|MYL1_ENST00000496436.1_5'UTR	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	83	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|sarcomere (GO:0030017)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GGGATTTGTGCCCAGAGCTCG	0.463																																						ENST00000352451.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16						c.(247-249)gGc>gAc		myosin, light chain 1, alkali; skeletal, fast							153.0	143.0	146.0					2																	211163200		2203	4300	6503	SO:0001583	missense	4632				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle	g.chr2:211163200C>T		CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530		"""Myosins / Light chain"", ""EF-hand domain containing"""	7582	protein-coding gene	gene with protein product		160780	"""myosin, light polypeptide 1, alkali; skeletal, fast"""			2304459, 3422212	Standard	NM_079422		Approved		uc002vec.3	P05976	OTTHUMG00000132992	ENST00000352451.3:c.248G>A	2.37:g.211163200C>T	ENSP00000307280:p.Gly83Asp		Somatic				MYL1_ENST00000496436.1_5'UTR|MYL1_ENST00000341685.4_Missense_Mutation_p.G39D	p.G83D	NM_079420.2	NP_524144.1	WXS	Illumina GAIIx	Phase_I	P05976	MYL1_HUMAN		Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)	3	395	-			83			EF-hand 1.		B2R4N6|B2R4T6|P06741|Q6IBD5	Missense_Mutation	SNP	ENST00000352451.3	37	c.248G>A	CCDS2390.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008113	0.93287	.	.	ENSG00000168530	ENST00000341685;ENST00000352451	T;T	0.78126	-1.15;-1.15	5.22	5.22	0.72569	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89972	0.6870	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91633	0.5320	10	0.87932	D	0	.	18.8527	0.92238	0.0:1.0:0.0:0.0	.	83;39	P05976;P05976-2	MYL1_HUMAN;.	D	39;83	ENSP00000343321:G39D;ENSP00000307280:G83D	ENSP00000343321:G39D	G	-	2	0	MYL1	210871445	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.818000	0.86416	2.451000	0.82905	0.650000	0.86243	GGC		0.463	MYL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256566.2	NM_079420		4	168	0	0	0	1	0	4	168				
GZF1	64412	broad.mit.edu	37	20	23345617	23345617	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:23345617G>T	ENST00000338121.5	+	2	674	c.597G>T	c.(595-597)aaG>aaT	p.K199N	GZF1_ENST00000377051.2_Missense_Mutation_p.K199N|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	199					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TGCCACCGAAGAAGTCCAAGG	0.527																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(595-597)aaG>aaT		GDNF-inducible zinc finger protein 1							49.0	51.0	50.0					20																	23345617		2203	4300	6503	SO:0001583	missense	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23345617G>T	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.597G>T	20.37:g.23345617G>T	ENSP00000338290:p.Lys199Asn		Somatic				GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.K199N	p.K199N			WXS	Illumina GAIIx	Phase_I	Q9H116	GZF1_HUMAN			2	674	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		199					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	37	c.597G>T	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	G	3.506	-0.100832	0.06967	.	.	ENSG00000125812	ENST00000338121;ENST00000377051	T;T	0.09723	2.95;2.95	4.28	2.25	0.28309	.	0.446086	0.20578	N	0.089597	T	0.04770	0.0129	N	0.14661	0.345	0.09310	N	1	B	0.21520	0.057	B	0.15870	0.014	T	0.40098	-0.9581	10	0.17832	T	0.49	.	4.5862	0.12284	0.2806:0.1788:0.5406:0.0	.	199	Q9H116	GZF1_HUMAN	N	199	ENSP00000338290:K199N;ENSP00000366250:K199N	ENSP00000338290:K199N	K	+	3	2	GZF1	23293617	0.095000	0.21747	0.641000	0.29422	0.056000	0.15407	0.322000	0.19576	1.021000	0.39600	0.637000	0.83480	AAG		0.527	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		6	272	1	0	0.00307968	1	0.00337835	6	272				
OR52B6	340980	broad.mit.edu	37	11	5602518	5602518	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:5602518G>T	ENST00000345043.2	+	1	412	c.412G>T	c.(412-414)Gcc>Tcc	p.A138S	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGGCCATGGCCTTTGACCG	0.522																																						ENST00000345043.2																			0				endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12						c.(412-414)Gcc>Tcc		olfactory receptor, family 52, subfamily B, member 6							118.0	120.0	119.0					11																	5602518		2201	4297	6498	SO:0001583	missense	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5602518G>T	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.412G>T	11.37:g.5602518G>T	ENSP00000341581:p.Ala138Ser		Somatic				HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	p.A138S	NM_001005162.2	NP_001005162.2	WXS	Illumina GAIIx	Phase_I	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	412	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	138					Q6IFI7	Missense_Mutation	SNP	ENST00000345043.2	37	c.412G>T	CCDS41611.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309862	0.81247	.	.	ENSG00000187747	ENST00000345043	T	0.39787	1.06	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39146	U	0.001449	T	0.65852	0.2731	M	0.73962	2.25	0.34923	D	0.748605	D	0.89917	1.0	D	0.97110	1.0	T	0.75676	-0.3235	10	0.72032	D	0.01	.	17.3508	0.87323	0.0:0.0:1.0:0.0	.	138	Q8NGF0	O52B6_HUMAN	S	138	ENSP00000341581:A138S	ENSP00000341581:A138S	A	+	1	0	OR52B6	5559094	1.000000	0.71417	0.998000	0.56505	0.873000	0.50193	4.789000	0.62446	2.673000	0.90976	0.650000	0.86243	GCC		0.522	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		37	322	1	0	9.80977e-26	1	1.36799e-25	37	322				
FRYL	285527	broad.mit.edu	37	4	48523136	48523136	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:48523136C>A	ENST00000503238.1	-	52	7617	c.7618G>T	c.(7618-7620)Gtg>Ttg	p.V2540L	FRYL_ENST00000537810.1_Missense_Mutation_p.V2540L|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.V2540L|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	2540					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATTTGAAGCACTTCCTCTGTT	0.488																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(7618-7620)Gtg>Ttg		FRY-like							115.0	111.0	112.0					4																	48523136		1888	4123	6011	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48523136C>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.7618G>T	4.37:g.48523136C>A	ENSP00000426064:p.Val2540Leu		Somatic				FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.V2540L|FRYL_ENST00000358350.4_Missense_Mutation_p.V2540L	p.V2540L			WXS	Illumina GAIIx	Phase_I	O94915	FRYL_HUMAN			55	8222	-			2540					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.7618G>T	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.357|5.357	0.251206|0.251206	0.10130|0.10130	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000514617|ENST00000503238;ENST00000358350;ENST00000537810	.|T;T;T	.|0.22539	.|1.95;1.95;1.95	5.4|5.4	2.72|2.72	0.32119|0.32119	.|.	.|1.025940	.|0.07723	.|N	.|0.944007	T|T	0.23370|0.23370	0.0565|0.0565	L|L	0.52364|0.52364	1.645|1.645	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.22683	.|0.044;0.044;0.073	.|B;B;B	.|0.21708	.|0.036;0.014;0.033	T|T	0.03463|0.03463	-1.1034|-1.1034	5|10	.|0.25106	.|T	.|0.35	.|.	13.3039|13.3039	0.60340|0.60340	0.0:0.8055:0.0:0.1945|0.0:0.8055:0.0:0.1945	.|.	.|1370;2540;2540	.|Q6ZR29;O94915;F5GX82	.|.;FRYL_HUMAN;.	I|L	1409|2540	.|ENSP00000426064:V2540L;ENSP00000351113:V2540L;ENSP00000441114:V2540L	.|ENSP00000351113:V2540L	S|V	-|-	2|1	0|0	FRYL|FRYL	48217893|48217893	0.763000|0.763000	0.28462|0.28462	0.001000|0.001000	0.08648|0.08648	0.000000|0.000000	0.00434|0.00434	2.442000|2.442000	0.44873|0.44873	0.087000|0.087000	0.17167|0.17167	-1.119000|-1.119000	0.02030|0.02030	AGT|GTG		0.488	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			7	351	1	0	0.00307968	1	0.00337835	7	351				
ATP2A2	488	broad.mit.edu	37	12	110777203	110777203	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:110777203G>A	ENST00000539276.2	+	12	1646	c.1537G>A	c.(1537-1539)Gtg>Atg	p.V513M	ATP2A2_ENST00000395494.2_Missense_Mutation_p.V486M|ATP2A2_ENST00000308664.6_Missense_Mutation_p.V513M			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	513					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CAAGATGTTTGTGAAGGCAAG	0.373																																						ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(1456-1458)Gtg>Atg		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							105.0	95.0	98.0					12																	110777203		2203	4300	6503	SO:0001583	missense	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110777203G>A		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.1537G>A	12.37:g.110777203G>A	ENSP00000440045:p.Val513Met		Somatic				ATP2A2_ENST00000308664.6_Missense_Mutation_p.V513M|ATP2A2_ENST00000539276.2_Missense_Mutation_p.V513M	p.V486M			WXS	Illumina GAIIx	Phase_I	P16615	AT2A2_HUMAN			11	2019	+			513					A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	c.1456G>A	CCDS9144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.3|26.3	4.720198|4.720198	0.89205|0.89205	.|.	.|.	ENSG00000174437|ENSG00000174437	ENST00000548169|ENST00000308664;ENST00000395494;ENST00000539276	.|D;D;D	.|0.92595	.|-3.07;-3.07;-3.07	5.85|5.85	5.85|5.85	0.93711|0.93711	.|ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);ATPase, P-type, cytoplasmic domain N (1);	.|0.750249	.|0.13477	.|N	.|0.384983	D|D	0.95815|0.95815	0.8638|0.8638	M|M	0.79123|0.79123	2.44|2.44	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.60160	.|0.971;0.983;0.987	.|P;P;P	.|0.58721	.|0.844;0.795;0.818	D|D	0.95336|0.95336	0.8434|0.8434	5|10	.|0.87932	.|D	.|0	.|.	20.1588|20.1588	0.98128|0.98128	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|486;513;513	.|P16615-4;P16615-2;P16615	.|.;.;AT2A2_HUMAN	Y|M	403|513;486;513	.|ENSP00000311186:V513M;ENSP00000378872:V486M;ENSP00000440045:V513M	.|ENSP00000311186:V513M	C|V	+|+	2|1	0|0	ATP2A2|ATP2A2	109261586|109261586	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	6.611000|6.611000	0.74183|0.74183	2.770000|2.770000	0.95276|0.95276	0.563000|0.563000	0.77884|0.77884	TGT|GTG		0.373	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		3	45	0	0	0	1	0	3	45				
SPTBN2	6712	broad.mit.edu	37	11	66463969	66463969	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:66463969G>A	ENST00000533211.1	-	21	4388	c.4057C>T	c.(4057-4059)Ctg>Ttg	p.L1353L	SPTBN2_ENST00000309996.2_Silent_p.L1353L|SPTBN2_ENST00000529997.1_Silent_p.L1353L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1353					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCCGACACCAGGGCTTTCAGC	0.577																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(4057-4059)Ctg>Ttg		spectrin, beta, non-erythrocytic 2							95.0	105.0	102.0					11																	66463969		2200	4295	6495	SO:0001819	synonymous_variant	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66463969G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.4057C>T	11.37:g.66463969G>A			Somatic				SPTBN2_ENST00000529997.1_Silent_p.L1353L|SPTBN2_ENST00000309996.2_Silent_p.L1353L	p.L1353L			WXS	Illumina GAIIx	Phase_I	O15020	SPTN2_HUMAN			21	4388	-			1353					O14872|O14873	Silent	SNP	ENST00000533211.1	37	c.4057C>T	CCDS8150.1																																																																																				0.577	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		5	757	0	0	0	1	0	5	757				
GALNT15	117248	broad.mit.edu	37	3	16254213	16254213	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:16254213G>A	ENST00000339732.5	+	6	1838	c.1335G>A	c.(1333-1335)ctG>ctA	p.L445L	GALNT15_ENST00000437509.1_Silent_p.L445L	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	445					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)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										AGACCTGGCTGGGGTCATTCA	0.562																																						ENST00000339732.5																			0											c.(1333-1335)ctG>ctA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15							101.0	100.0	100.0					3																	16254213		2203	4300	6503	SO:0001819	synonymous_variant	117248							g.chr3:16254213G>A	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1335G>A	3.37:g.16254213G>A			Somatic				GALNT15_ENST00000437509.1_Silent_p.L445L	p.L445L	NM_054110.4	NP_473451.3	WXS	Illumina GAIIx	Phase_I					6	1838	+								A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Silent	SNP	ENST00000339732.5	37	c.1335G>A	CCDS33711.1																																																																																				0.562	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		6	796	0	0	0	1	0	6	796				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72685542	72685542	+	RNA	SNP	G	G	A	rs2539086		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:72685542G>A	ENST00000425256.1	-	0	116									GTF2I repeat domain containing 2 pseudogene 1																		ACGTTACCATGACAAAAGCAG	0.463																																						ENST00000425256.1																			0																																																			401375							g.chr7:72685542G>A	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72685542G>A			Somatic						NR_002164.1		WXS	Illumina GAIIx	Phase_I					0	116	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.463	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		4	258	0	0	0	1	0	4	258				
ETAA1	54465	broad.mit.edu	37	2	67632411	67632411	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:67632411C>T	ENST00000272342.5	+	5	2727	c.2597C>T	c.(2596-2598)gCt>gTt	p.A866V	ETAA1_ENST00000462772.1_3'UTR	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	866						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						CTGGAGGAAGCTGTTGGACAG	0.333																																						ENST00000272342.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						c.(2596-2598)gCt>gTt		Ewing tumor-associated antigen 1							35.0	36.0	35.0					2																	67632411		2188	4264	6452	SO:0001583	missense	54465					cytoplasm|nucleus		g.chr2:67632411C>T	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.2597C>T	2.37:g.67632411C>T	ENSP00000272342:p.Ala866Val		Somatic				ETAA1_ENST00000462772.1_3'UTR	p.A866V	NM_019002.3	NP_061875.2	WXS	Illumina GAIIx	Phase_I	Q9NY74	ETAA1_HUMAN			5	2727	+			866					Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	c.2597C>T	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	C	0.080	-1.186163	0.01620	.	.	ENSG00000143971	ENST00000272342	T	0.20332	2.08	5.04	1.15	0.20763	.	1.561260	0.03244	N	0.180918	T	0.18800	0.0451	L	0.50333	1.59	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.22765	-1.0207	10	0.33141	T	0.24	-2.8515	1.0209	0.01517	0.1707:0.4202:0.1455:0.2636	.	866	Q9NY74	ETAA1_HUMAN	V	866	ENSP00000272342:A866V	ENSP00000272342:A866V	A	+	2	0	ETAA1	67485915	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.053000	0.11846	0.243000	0.21327	-0.844000	0.03045	GCT		0.333	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		3	36	0	0	0	1	0	3	36				
ACAP1	9744	broad.mit.edu	37	17	7246727	7246727	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:7246727G>A	ENST00000158762.3	+	6	580	c.374G>A	c.(373-375)cGg>cAg	p.R125Q	ACAP1_ENST00000573893.1_3'UTR	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	125	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GAGGCTCGCCGGGATTTCTGG	0.632																																						ENST00000158762.3																			0				NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(373-375)cGg>cAg		ArfGAP with coiled-coil, ankyrin repeat and PH domains 1							43.0	53.0	49.0					17																	7246727		2201	4299	6500	SO:0001583	missense	9744				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	g.chr17:7246727G>A	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.374G>A	17.37:g.7246727G>A	ENSP00000158762:p.Arg125Gln		Somatic				ACAP1_ENST00000573893.1_3'UTR	p.R125Q	NM_014716.3	NP_055531.1	WXS	Illumina GAIIx	Phase_I	Q15027	ACAP1_HUMAN			6	580	+			125			BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.		Q53XN9	Missense_Mutation	SNP	ENST00000158762.3	37	c.374G>A	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775484	0.70107	.	.	ENSG00000072818	ENST00000158762	T	0.04551	3.6	5.24	4.2	0.49525	Phospholipase C, phosphatidylinositol-specific , X domain (1);	0.063724	0.64402	D	0.000010	T	0.03390	0.0098	L	0.38531	1.155	0.80722	D	1	D	0.54772	0.968	B	0.35039	0.194	T	0.41395	-0.9511	10	0.56958	D	0.05	.	6.8936	0.24243	0.0931:0.1783:0.7286:0.0	.	125	Q15027	ACAP1_HUMAN	Q	125	ENSP00000158762:R125Q	ENSP00000158762:R125Q	R	+	2	0	ACAP1	7187451	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.545000	0.60698	2.618000	0.88619	0.462000	0.41574	CGG		0.632	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		4	177	0	0	0	1	0	4	177				
PAN2	9924	broad.mit.edu	37	12	56722041	56722041	+	Missense_Mutation	SNP	G	G	A	rs143838622		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:56722041G>A	ENST00000425394.2	-	4	930	c.554C>T	c.(553-555)aCt>aTt	p.T185I	PAN2_ENST00000257931.5_Missense_Mutation_p.T185I|PAN2_ENST00000548043.1_Missense_Mutation_p.T185I|PAN2_ENST00000440411.3_Missense_Mutation_p.T185I	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	CTCCTGGACAGTGTTAAGATC	0.507																																						ENST00000425394.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(553-555)aCt>aTt		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)			ILE/THR,ILE/THR,ILE/THR	0,4406		0,0,2203	142.0	137.0	139.0		554,554,554	4.4	1.0	12	dbSNP_134	139	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense	PAN2	NM_001127460.2,NM_001166279.1,NM_014871.4	89,89,89	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	possibly-damaging,possibly-damaging,possibly-damaging	185/1203,185/1202,185/1199	56722041	4,13002	2203	4300	6503	SO:0001583	missense	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56722041G>A	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.554C>T	12.37:g.56722041G>A	ENSP00000401721:p.Thr185Ile		Somatic				PAN2_ENST00000440411.3_Missense_Mutation_p.T185I|PAN2_ENST00000257931.5_Missense_Mutation_p.T185I|PAN2_ENST00000548043.1_Missense_Mutation_p.T185I	p.T185I	NM_001127460.2	NP_001120932.1	WXS	Illumina GAIIx	Phase_I	Q504Q3	PAN2_HUMAN			4	930	-			185						Missense_Mutation	SNP	ENST00000425394.2	37	c.554C>T	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310503	0.81358	0.0	4.65E-4	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043;ENST00000547572	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	4.45	4.45	0.53987	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.62405	0.2425	M	0.73217	2.22	0.58432	D	0.999992	D;D;D	0.69078	0.997;0.989;0.995	D;P;P	0.67725	0.953;0.838;0.898	T	0.65952	-0.6043	10	0.56958	D	0.05	-9.3223	16.3906	0.83533	0.0:0.0:1.0:0.0	.	185;185;185	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	I	185;185;185;185;46	ENSP00000401721:T185I;ENSP00000388231:T185I;ENSP00000257931:T185I;ENSP00000449861:T185I;ENSP00000449092:T46I	ENSP00000257931:T185I	T	-	2	0	PAN2	55008308	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.166000	0.64965	2.464000	0.83262	0.609000	0.83330	ACT		0.507	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		5	376	0	0	0	1	0	5	376				
DGKH	160851	broad.mit.edu	37	13	42788641	42788641	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr13:42788641A>T	ENST00000337343.4	+	25	3035		c.e25-1		DGKH_ENST00000540693.1_Splice_Site|DGKH_ENST00000261491.5_Splice_Site|DGKH_ENST00000379274.2_Splice_Site|DGKH_ENST00000498255.2_Splice_Site|DGKH_ENST00000536612.1_Splice_Site|DGKH_ENST00000538674.1_Splice_Site	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta						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)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TTTTGCTTTTAGGATATGTGA	0.358																																						ENST00000379274.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.e25-1		diacylglycerol kinase, eta							74.0	69.0	71.0					13																	42788641		2203	4300	6503	SO:0001630	splice_region_variant	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42788641A>T	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.3015-1A>T	13.37:g.42788641A>T			Somatic				DGKH_ENST00000536612.1_Splice_Site|DGKH_ENST00000540693.1_Splice_Site|DGKH_ENST00000261491.4_Splice_Site|DGKH_ENST00000498255.2_Splice_Site|DGKH_ENST00000538674.1_Splice_Site|DGKH_ENST00000337343.4_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	25	3035	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)						A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Splice_Site	SNP	ENST00000337343.4	37		CCDS9381.1	.	.	.	.	.	.	.	.	.	.	A	16.58	3.163967	0.57476	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7502	0.69519	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DGKH	41686641	1.000000	0.71417	0.947000	0.38551	0.763000	0.43281	9.300000	0.96151	2.088000	0.63022	0.528000	0.53228	.		0.358	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009	Intron	5	147	0	0	0	1	0	5	147				
BMP7	655	broad.mit.edu	37	20	55758861	55758861	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:55758861C>T	ENST00000395863.3	-	4	1380	c.875G>A	c.(874-876)cGg>cAg	p.R292Q	BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000395864.3_Intron|BMP7_ENST00000450594.2_Missense_Mutation_p.R292Q	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	292					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CCCCGTGGACCGGATGCTGCG	0.637																																						ENST00000395863.3																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(874-876)cGg>cAg		bone morphogenetic protein 7							76.0	67.0	70.0					20																	55758861		2203	4300	6503	SO:0001583	missense	655				BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	g.chr20:55758861C>T		CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1074	protein-coding gene	gene with protein product	"""osteogenic protein 1"""	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.875G>A	20.37:g.55758861C>T	ENSP00000379204:p.Arg292Gln		Somatic				BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000395864.3_Intron|BMP7_ENST00000450594.2_Missense_Mutation_p.R292Q	p.R292Q	NM_001719.2	NP_001710.1	WXS	Illumina GAIIx	Phase_I	P18075	BMP7_HUMAN	BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)		4	1380	-	all_lung(29;0.0133)|Melanoma(10;0.242)		292					Q9H512|Q9NTQ7	Missense_Mutation	SNP	ENST00000395863.3	37	c.875G>A	CCDS13455.1	.	.	.	.	.	.	.	.	.	.	C	37	6.176860	0.97348	.	.	ENSG00000101144	ENST00000395863;ENST00000450594	T;D	0.82167	-1.08;-1.58	5.48	5.48	0.80851	.	0.049998	0.85682	D	0.000000	D	0.89691	0.6788	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	0.979;1.0	P;D	0.83275	0.449;0.996	D	0.89689	0.3896	10	0.56958	D	0.05	.	19.3542	0.94404	0.0:1.0:0.0:0.0	.	292;292	P18075;B1AL00	BMP7_HUMAN;.	Q	292	ENSP00000379204:R292Q;ENSP00000398687:R292Q	ENSP00000379204:R292Q	R	-	2	0	BMP7	55192268	1.000000	0.71417	0.792000	0.32020	0.980000	0.70556	7.597000	0.82733	2.559000	0.86315	0.643000	0.83706	CGG		0.637	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2			5	776	0	0	0	1	0	5	776				
MGP	4256	broad.mit.edu	37	12	15038693	15038693	+	Silent	SNP	G	G	A	rs142282008		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:15038693G>A	ENST00000539261.1	-	1	167	c.33C>T	c.(31-33)gcC>gcT	p.A11A	MGP_ENST00000228938.5_Silent_p.A11A|C12orf60_ENST00000527783.1_Intron	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	11					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|ossification (GO:0001503)|regulation of bone mineralization (GO:0030500)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|structural constituent of bone (GO:0008147)			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						CCGCTAAGGCGGCCAGGATGG	0.478																																						ENST00000539261.1																			0				large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						c.(31-33)gcC>gcT		matrix Gla protein		G	,	1,4405	2.1+/-5.4	0,1,2202	142.0	114.0	123.0		33,33	-1.8	1.0	12	dbSNP_134	123	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MGP	NM_000900.3,NM_001190839.1	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	11/104,11/129	15038693	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4256				cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone	g.chr12:15038693G>A	M58549	CCDS8669.1, CCDS53752.1	12p12.3	2006-12-15			ENSG00000111341	ENSG00000111341			7060	protein-coding gene	gene with protein product		154870				2394711	Standard	NM_000900		Approved		uc021qvr.1	P08493	OTTHUMG00000168740	ENST00000539261.1:c.33C>T	12.37:g.15038693G>A			Somatic				C12orf60_ENST00000527783.1_Intron|MGP_ENST00000228938.5_Silent_p.A11A	p.A11A	NM_000900.3	NP_000891.2	WXS	Illumina GAIIx	Phase_I	P08493	MGP_HUMAN			1	167	-			11					A0M8W5|B2R519|J3KMX7|Q2TU41|Q567P9|Q6ICN5	Silent	SNP	ENST00000539261.1	37	c.33C>T	CCDS8669.1																																																																																				0.478	MGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400864.1	NM_000900		4	203	0	0	0	1	0	4	203				
STAT2	6773	broad.mit.edu	37	12	56749927	56749927	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:56749927G>A	ENST00000314128.4	-	3	297	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	STAT2_ENST00000418572.2_Missense_Mutation_p.R92W|STAT2_ENST00000557235.1_Missense_Mutation_p.R92W			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	92					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TGAATGTCCCGGCAGAATTTC	0.512																																						ENST00000314128.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.(274-276)Cgg>Tgg		signal transducer and activator of transcription 2, 113kDa							93.0	93.0	93.0					12																	56749927		2203	4300	6503	SO:0001583	missense	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56749927G>A	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.274C>T	12.37:g.56749927G>A	ENSP00000315768:p.Arg92Trp		Somatic				STAT2_ENST00000418572.2_Missense_Mutation_p.R92W|STAT2_ENST00000557235.1_Missense_Mutation_p.R92W	p.R92W			WXS	Illumina GAIIx	Phase_I	P52630	STAT2_HUMAN			3	297	-			92					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	ENST00000314128.4	37	c.274C>T	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.296115	0.60086	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000553337;ENST00000418572	T;T;T	0.54279	0.58;0.58;0.58	4.93	3.07	0.35406	STAT transcription factor, protein interaction (4);	0.205366	0.43260	D	0.000581	T	0.64505	0.2604	M	0.79258	2.445	0.26575	N	0.973486	D;D;D	0.76494	0.998;0.998;0.999	P;P;P	0.60886	0.87;0.84;0.88	T	0.57763	-0.7755	10	0.87932	D	0	-32.2878	6.1928	0.20534	0.0939:0.0:0.7228:0.1833	.	92;92;92	B4DLC8;G3V2M6;P52630	.;.;STAT2_HUMAN	W	92	ENSP00000315768:R92W;ENSP00000450751:R92W;ENSP00000387354:R92W	ENSP00000315768:R92W	R	-	1	2	STAT2	55036194	0.583000	0.26757	0.138000	0.22173	0.759000	0.43091	1.596000	0.36718	0.778000	0.33520	0.655000	0.94253	CGG		0.512	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		6	433	0	0	0	1	0	6	433				
ETAA1	54465	broad.mit.edu	37	2	67630070	67630070	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:67630070C>A	ENST00000272342.5	+	4	636	c.506C>A	c.(505-507)gCa>gAa	p.A169E	ETAA1_ENST00000462772.1_3'UTR	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	169						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						CCCAGTGTAGCAAAAGGAAAA	0.353																																						ENST00000272342.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						c.(505-507)gCa>gAa		Ewing tumor-associated antigen 1							104.0	99.0	100.0					2																	67630070		2203	4299	6502	SO:0001583	missense	54465					cytoplasm|nucleus		g.chr2:67630070C>A	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.506C>A	2.37:g.67630070C>A	ENSP00000272342:p.Ala169Glu		Somatic				ETAA1_ENST00000462772.1_3'UTR	p.A169E	NM_019002.3	NP_061875.2	WXS	Illumina GAIIx	Phase_I	Q9NY74	ETAA1_HUMAN			4	636	+			169					Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	c.506C>A	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000248	0.54147	.	.	ENSG00000143971	ENST00000272342	T	0.25579	1.79	6.16	5.29	0.74685	.	0.245061	0.39834	N	0.001251	T	0.45054	0.1323	M	0.68952	2.095	0.28000	N	0.935318	D	0.54397	0.966	P	0.58266	0.836	T	0.45600	-0.9250	10	0.72032	D	0.01	-1.3916	13.8172	0.63299	0.0:0.8564:0.0:0.1436	.	169	Q9NY74	ETAA1_HUMAN	E	169	ENSP00000272342:A169E	ENSP00000272342:A169E	A	+	2	0	ETAA1	67483574	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	1.027000	0.30115	0.950000	0.37743	-0.813000	0.03139	GCA		0.353	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		7	66	1	0	0.0381472	1	0.0398705	7	66				
PCDHB14	56122	broad.mit.edu	37	5	140604589	140604589	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:140604589C>A	ENST00000239449.4	+	1	1512	c.1512C>A	c.(1510-1512)gtC>gtA	p.V504V	PCDHB14_ENST00000515856.2_Silent_p.V351V	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	504	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCCTTGGTCTCCATCAACG	0.657																																					Ovarian(141;50 1831 27899 33809 37648)	ENST00000239449.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49						c.(1510-1512)gtC>gtA									100.0	106.0	104.0					5																	140604589		2203	4300	6503	SO:0001819	synonymous_variant	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604589C>A	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1512C>A	5.37:g.140604589C>A			Somatic				PCDHB14_ENST00000515856.2_Silent_p.V351V	p.V504V	NM_018934.2	NP_061757.1	WXS	Illumina GAIIx	Phase_I	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1512	+			504			Cadherin 5.		B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	37	c.1512C>A	CCDS4256.1																																																																																				0.657	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		3	79	1	0	0.184627	1	0.188705	3	79				
KIF19	124602	broad.mit.edu	37	17	72345343	72345343	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:72345343C>T	ENST00000389916.4	+	10	1206	c.1068C>T	c.(1066-1068)aaC>aaT	p.N356N		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	356					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						ACCTCCTGAACGTCTCCTACC	0.617																																						ENST00000389916.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(1066-1068)aaC>aaT		kinesin family member 19							83.0	71.0	75.0					17																	72345343		2203	4300	6503	SO:0001819	synonymous_variant	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72345343C>T	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1068C>T	17.37:g.72345343C>T			Somatic					p.N356N	NM_153209.3	NP_694941.2	WXS	Illumina GAIIx	Phase_I	Q2TAC6	KIF19_HUMAN			10	1206	+			356					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	ENST00000389916.4	37	c.1068C>T	CCDS32718.2																																																																																				0.617	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		5	77	0	0	0	1	0	5	77				
TXNIP	10628	broad.mit.edu	37	1	145440676	145440676	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:145440676G>A	ENST00000369317.4	+	6	1210	c.876G>A	c.(874-876)ctG>ctA	p.L292L	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	292					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCTTGACCTGCCCCTGGTAA	0.498																																						ENST00000369317.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21						c.(874-876)ctG>ctA		thioredoxin interacting protein							108.0	106.0	107.0					1																	145440676		2203	4300	6503	SO:0001819	synonymous_variant	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145440676G>A	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.876G>A	1.37:g.145440676G>A			Somatic				TXNIP_ENST00000475171.1_Intron	p.L292L	NM_006472.3	NP_006463.3	WXS	Illumina GAIIx	Phase_I	Q9H3M7	TXNIP_HUMAN			6	1210	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		292					B4E3D3|Q16226|Q6PML0|Q9BXG9	Silent	SNP	ENST00000369317.4	37	c.876G>A	CCDS913.1																																																																																				0.498	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		8	116	0	0	0	1	0	8	116				
KLHL14	57565	broad.mit.edu	37	18	30350146	30350146	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr18:30350146G>T	ENST00000359358.4	-	2	847	c.409C>A	c.(409-411)Ctg>Atg	p.L137M	AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Missense_Mutation_p.L137M	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	137	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TCGAGCACCAGGCGCAGCCCG	0.657																																						ENST00000359358.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(409-411)Ctg>Atg		kelch-like family member 14							95.0	97.0	96.0					18																	30350146		2203	4300	6503	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30350146G>T	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.409C>A	18.37:g.30350146G>T	ENSP00000352314:p.Leu137Met		Somatic				KLHL14_ENST00000358095.4_Missense_Mutation_p.L137M|AC012123.1_ENST00000426194.1_Intron	p.L137M	NM_020805.1	NP_065856.1	WXS	Illumina GAIIx	Phase_I	Q9P2G3	KLH14_HUMAN			2	847	-			137			BTB.		A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.409C>A	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	G	3.598	-0.082230	0.07141	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.68181	-0.31;-0.31	4.34	3.46	0.39613	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000003	T	0.72350	0.3449	L	0.38175	1.15	0.48040	D	0.999571	D	0.69078	0.997	D	0.79108	0.992	T	0.69375	-0.5162	10	0.41790	T	0.15	.	12.9135	0.58192	0.159:0.0:0.841:0.0	.	137	Q9P2G3	KLH14_HUMAN	M	137	ENSP00000352314:L137M;ENSP00000350808:L137M	ENSP00000350808:L137M	L	-	1	2	KLHL14	28604144	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.544000	0.45761	0.409000	0.25649	-1.641000	0.00772	CTG		0.657	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			4	136	1	0	0.000602214	1	0.000670738	4	136				
ALOX5AP	241	broad.mit.edu	37	13	31330136	31330136	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr13:31330136C>T	ENST00000380490.3	+	4	395	c.297C>T	c.(295-297)gtC>gtT	p.V99V		NM_001204406.1|NM_001629.3	NP_001191335.1|NP_001620.2	P20292	AL5AP_HUMAN	arachidonate 5-lipoxygenase-activating protein	99					arachidonic acid metabolic process (GO:0019369)|cellular response to calcium ion (GO:0071277)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|positive regulation of acute inflammatory response (GO:0002675)|protein homotrimerization (GO:0070207)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	arachidonic acid binding (GO:0050544)|enzyme activator activity (GO:0008047)|protein N-terminus binding (GO:0047485)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)		AGTACTTTGTCGGTTACCTAG	0.448																																						ENST00000380490.3																			0				endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4						c.(295-297)gtC>gtT		arachidonate 5-lipoxygenase-activating protein							175.0	148.0	157.0					13																	31330136		2203	4300	6503	SO:0001819	synonymous_variant	241				cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	arachidonic acid binding|protein N-terminus binding	g.chr13:31330136C>T	AH001462	CCDS9337.1, CCDS73558.1	13q12	2008-07-18			ENSG00000132965	ENSG00000132965			436	protein-coding gene	gene with protein product	"""five-lipoxygenase activating protein"", ""MK-886-binding protein"""	603700				1673682, 10036194	Standard	NM_001629		Approved	FLAP	uc010tdr.2	P20292	OTTHUMG00000016677	ENST00000380490.3:c.297C>T	13.37:g.31330136C>T			Somatic					p.V99V	NM_001204406.1|NM_001629.3	NP_001191335.1|NP_001620.2	WXS	Illumina GAIIx	Phase_I	P20292	AL5AP_HUMAN		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)	4	395	+		Lung SC(185;0.0257)|Breast(139;0.203)	99					Q5VV04	Silent	SNP	ENST00000380490.3	37	c.297C>T	CCDS9337.1																																																																																				0.448	ALOX5AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044372.1	NM_001629		4	164	0	0	0	1	0	4	164				
MMS22L	253714	broad.mit.edu	37	6	97599721	97599721	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:97599721G>T	ENST00000275053.4	-	23	3673	c.3408C>A	c.(3406-3408)aaC>aaA	p.N1136K	MMS22L_ENST00000369251.2_Missense_Mutation_p.N1096K	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1136					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGTATTGCAGGTTCTCTGTGG	0.438																																						ENST00000275053.4																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(3406-3408)aaC>aaA		MMS22-like, DNA repair protein							156.0	156.0	156.0					6																	97599721		2203	4300	6503	SO:0001583	missense	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97599721G>T		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.3408C>A	6.37:g.97599721G>T	ENSP00000275053:p.Asn1136Lys		Somatic				MMS22L_ENST00000369251.2_Missense_Mutation_p.N1096K	p.N1136K	NM_198468.2	NP_940870.2	WXS	Illumina GAIIx	Phase_I	Q6ZRQ5	MMS22_HUMAN			23	3673	-			1136					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	c.3408C>A	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.672415	0.67928	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.32988	3.58;1.43	5.44	5.44	0.79542	.	0.182978	0.51477	D	0.000094	T	0.23649	0.0572	L	0.54323	1.7	0.27148	N	0.961482	D;D	0.58620	0.983;0.962	P;P	0.52066	0.689;0.592	T	0.19811	-1.0294	10	0.62326	D	0.03	-15.5297	7.1041	0.25354	0.209:0.0:0.791:0.0	.	1096;1136	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	K	1136;1096	ENSP00000275053:N1136K;ENSP00000358254:N1096K	ENSP00000275053:N1136K	N	-	3	2	MMS22L	97706442	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.573000	0.46007	2.549000	0.85964	0.650000	0.86243	AAC		0.438	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		150	376	1	0	1.06673e-69	1	1.56024e-69	150	376				
DCAF4	26094	broad.mit.edu	37	14	73422349	73422349	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:73422349C>A	ENST00000358377.2	+	12	1344	c.1124C>A	c.(1123-1125)tCt>tAt	p.S375Y	DCAF4_ENST00000394234.2_Missense_Mutation_p.S275Y|DCAF4_ENST00000553457.1_Missense_Mutation_p.S275Y|DCAF4_ENST00000555042.1_Missense_Mutation_p.S369Y|DCAF4_ENST00000353777.3_Missense_Mutation_p.S205Y|DCAF4_ENST00000509153.1_Missense_Mutation_p.S315Y	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	375					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						GCAGTGACCTCTGTGCGGATC	0.547																																						ENST00000553457.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						c.(823-825)tCt>tAt		DDB1 and CUL4 associated factor 4							216.0	200.0	206.0					14																	73422349		2203	4300	6503	SO:0001583	missense	26094					CUL4 RING ubiquitin ligase complex		g.chr14:73422349C>A	BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20229	protein-coding gene	gene with protein product			"""WD repeat domain 21"", ""WD repeat domain 21A"""	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.1124C>A	14.37:g.73422349C>A	ENSP00000351147:p.Ser375Tyr		Somatic				DCAF4_ENST00000555042.1_Missense_Mutation_p.S369Y|DCAF4_ENST00000394234.2_Missense_Mutation_p.S275Y|DCAF4_ENST00000358377.2_Missense_Mutation_p.S375Y|DCAF4_ENST00000353777.3_Missense_Mutation_p.S205Y|DCAF4_ENST00000509153.1_Missense_Mutation_p.S315Y	p.S275Y			WXS	Illumina GAIIx	Phase_I	Q8WV16	DCAF4_HUMAN			11	1114	+			375					B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Missense_Mutation	SNP	ENST00000358377.2	37	c.824C>A	CCDS9809.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.573085	0.86542	.	.	ENSG00000119599	ENST00000358377;ENST00000353777;ENST00000394234;ENST00000509153;ENST00000555042;ENST00000553457	T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.049097	0.85682	D	0.000000	T	0.80747	0.4682	M	0.77616	2.38	0.58432	D	0.999996	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.87578	0.997;0.998;0.996;0.996;0.987;0.997	T	0.80320	-0.1432	10	0.48119	T	0.1	.	19.7201	0.96139	0.0:1.0:0.0:0.0	.	315;354;375;369;205;375	B4DUT6;B4DN30;Q8WV16-2;G3V522;Q86SY2;Q8WV16	.;.;.;.;.;DCAF4_HUMAN	Y	375;205;275;315;369;275	ENSP00000351147:S375Y;ENSP00000345176:S205Y;ENSP00000377781:S275Y;ENSP00000426178:S315Y;ENSP00000452131:S369Y;ENSP00000451186:S275Y	ENSP00000345176:S205Y	S	+	2	0	DCAF4	72492102	1.000000	0.71417	0.972000	0.41901	0.874000	0.50279	7.487000	0.81328	2.661000	0.90470	0.561000	0.74099	TCT		0.547	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361058.1	NM_015604		15	402	1	0	8.00594e-06	1	9.54338e-06	15	402				
NAV2	89797	broad.mit.edu	37	11	20089935	20089935	+	Silent	SNP	G	G	A	rs370089157		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:20089935G>A	ENST00000396087.3	+	24	5241	c.5142G>A	c.(5140-5142)ctG>ctA	p.L1714L	NAV2_ENST00000360655.4_Silent_p.L1594L|NAV2_ENST00000349880.4_Silent_p.L1658L|NAV2_ENST00000540292.1_Silent_p.L1645L|NAV2_ENST00000396085.1_Silent_p.L1658L|NAV2_ENST00000533917.1_Silent_p.L722L|NAV2_ENST00000311043.8_Silent_p.L722L|NAV2_ENST00000527559.2_Silent_p.L1643L	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1714					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCACCCAGCTGACAGCAAATG	0.512																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(4972-4974)ctG>ctA		neuron navigator 2							96.0	91.0	93.0					11																	20089935		2203	4300	6503	SO:0001819	synonymous_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:20089935G>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5142G>A	11.37:g.20089935G>A			Somatic				NAV2_ENST00000540292.1_Silent_p.L1645L|NAV2_ENST00000311043.8_Silent_p.L722L|NAV2_ENST00000349880.4_Silent_p.L1658L|NAV2_ENST00000533917.1_Silent_p.L722L|NAV2_ENST00000527559.2_Silent_p.L1643L|NAV2_ENST00000360655.4_Silent_p.L1594L|NAV2_ENST00000396087.3_Silent_p.L1714L	p.L1658L	NM_182964.5	NP_892009.3	WXS	Illumina GAIIx	Phase_I	Q8IVL1	NAV2_HUMAN			22	5335	+			1714			Ser-rich.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	c.4974G>A	CCDS58126.1																																																																																				0.512	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		15	84	0	0	0	1	0	15	84				
MTG2	26164	broad.mit.edu	37	20	60773849	60773849	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:60773849C>T	ENST00000370823.3	+	5	646	c.628C>T	c.(628-630)Cag>Tag	p.Q210*	MTG2_ENST00000436421.2_Intron|MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000461411.1_3'UTR	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	210	Localized in the mitochondria.|Not localized in the mitochondria.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										TACCCCTGGACAGCCAGGACA	0.627																																						ENST00000370823.3																			0											c.(628-630)Cag>Tag		mitochondrial ribosome-associated GTPase 2							99.0	84.0	89.0					20																	60773849		2203	4300	6503	SO:0001587	stop_gained	26164							g.chr20:60773849C>T	AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"""GTP-binding protein 5 (putative)"", ""GTP binding protein 5 (putative)"""	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.628C>T	20.37:g.60773849C>T	ENSP00000359859:p.Gln210*		Somatic				MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000436421.2_Intron|MTG2_ENST00000461411.1_3'UTR	p.Q210*	NM_015666.3	NP_056481.1	WXS	Illumina GAIIx	Phase_I					5	646	+								A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Nonsense_Mutation	SNP	ENST00000370823.3	37	c.628C>T	CCDS13492.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539993	0.85917	.	.	ENSG00000101181	ENST00000370823;ENST00000448254	.	.	.	5.67	2.56	0.30785	.	0.413619	0.28754	N	0.014260	.	.	.	.	.	.	0.53688	D	0.999978	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-32.6996	18.2596	0.90030	0.0:0.4589:0.5411:0.0	.	.	.	.	X	210	.	ENSP00000359859:Q210X	Q	+	1	0	GTPBP5	60207244	0.741000	0.28217	0.688000	0.30117	0.893000	0.52053	0.690000	0.25451	0.281000	0.22233	0.561000	0.74099	CAG		0.627	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079989.1	NM_015666		5	58	0	0	0	1	0	5	58				
ZNF148	7707	broad.mit.edu	37	3	124952163	124952163	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:124952163C>A	ENST00000360647.4	-	9	1892	c.1407G>T	c.(1405-1407)caG>caT	p.Q469H	ZNF148_ENST00000497929.1_5'UTR|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.Q469H|ZNF148_ENST00000492394.1_Missense_Mutation_p.Q469H|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.Q469H	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	469					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TCTTCAAAAACTGCATGGCAT	0.443																																						ENST00000360647.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						c.(1405-1407)caG>caT		zinc finger protein 148							118.0	119.0	119.0					3																	124952163		2203	4300	6503	SO:0001583	missense	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124952163C>A	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.1407G>T	3.37:g.124952163C>A	ENSP00000353863:p.Gln469His		Somatic				ZNF148_ENST00000484491.1_Missense_Mutation_p.Q469H|ZNF148_ENST00000468369.1_Intron|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.Q469H|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.Q469H|ZNF148_ENST00000497929.1_5'UTR	p.Q469H	NM_021964.2	NP_068799.2	WXS	Illumina GAIIx	Phase_I	Q9UQR1	ZN148_HUMAN			9	1892	-			469					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.1407G>T	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183036	0.57800	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.49	2.58	0.30949	.	0.000000	0.85682	D	0.000000	T	0.67031	0.2850	M	0.65975	2.015	0.80722	D	1	D	0.65815	0.995	D	0.77557	0.99	T	0.68796	-0.5314	10	0.87932	D	0	-8.7949	10.6792	0.45804	0.0:0.7804:0.0:0.2196	.	469	Q9UQR1	ZN148_HUMAN	H	469	ENSP00000353863:Q469H;ENSP00000420335:Q469H;ENSP00000419322:Q469H;ENSP00000420448:Q469H	ENSP00000353863:Q469H	Q	-	3	2	ZNF148	126434853	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.959000	0.56744	0.813000	0.34350	-0.345000	0.07892	CAG		0.443	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		13	304	1	0	1.49906e-05	1	1.75811e-05	13	304				
KANK1	23189	broad.mit.edu	37	9	738458	738458	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:738458C>T	ENST00000382303.1	+	12	4159	c.3507C>T	c.(3505-3507)agC>agT	p.S1169S	KANK1_ENST00000382297.2_Silent_p.S1169S|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.S1011S	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1169	Interaction with KIF21A.				negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TCCATTACAGCGTGTCCCACT	0.527																																						ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(3505-3507)agC>agT		KN motif and ankyrin repeat domains 1							150.0	114.0	126.0					9																	738458		2203	4300	6503	SO:0001819	synonymous_variant	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:738458C>T	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3507C>T	9.37:g.738458C>T			Somatic				KANK1_ENST00000382297.2_Silent_p.S1169S|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.S1011S	p.S1169S	NM_001256876.1	NP_001243805.1	WXS	Illumina GAIIx	Phase_I	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	12	4159	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1169					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	c.3507C>T	CCDS34976.1																																																																																				0.527	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		6	899	0	0	0	1	0	6	899				
RARB	5915	broad.mit.edu	37	3	25611305	25611305	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:25611305G>T	ENST00000404969.1	+	4	526	c.526G>T	c.(526-528)Gag>Tag	p.E176*	RARB_ENST00000458646.1_Nonsense_Mutation_p.E57*|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000437042.2_Nonsense_Mutation_p.E57*|RARB_ENST00000330688.4_Nonsense_Mutation_p.E169*			P10826	RARB_HUMAN	retinoic acid receptor, beta	176	Hinge.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AGAATGCACAGAGAGCTATGA	0.488																																						ENST00000330688.4																			0				breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28						c.(505-507)Gag>Tag		retinoic acid receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)						127.0	121.0	123.0					3																	25611305		2203	4300	6503	SO:0001587	stop_gained	5915				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr3:25611305G>T	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.526G>T	3.37:g.25611305G>T	ENSP00000385865:p.Glu176*		Somatic				RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Nonsense_Mutation_p.E57*|RARB_ENST00000404969.1_Nonsense_Mutation_p.E176*|RARB_ENST00000437042.2_Nonsense_Mutation_p.E57*	p.E169*	NM_000965.3	NP_000956.2	WXS	Illumina GAIIx	Phase_I	P10826	RARB_HUMAN			4	926	+			176			Hinge.		P12891|Q00989|Q15298|Q9UN48	Nonsense_Mutation	SNP	ENST00000404969.1	37	c.505G>T		.	.	.	.	.	.	.	.	.	.	G	41	8.562374	0.98863	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	.	.	.	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	17.8958	0.88887	0.0:0.0:1.0:0.0	.	.	.	.	X	176;176;176;57;169;57	.	ENSP00000332296:E169X	E	+	1	0	RARB	25586309	1.000000	0.71417	0.968000	0.41197	0.963000	0.63663	9.428000	0.97476	2.530000	0.85305	0.561000	0.74099	GAG		0.488	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152		5	80	1	0	1.23904e-05	1	1.45652e-05	5	80				
IL32	9235	broad.mit.edu	37	16	3119294	3119294	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:3119294C>A	ENST00000534507.1	+	6	854	c.643C>A	c.(643-645)Cca>Aca	p.P215T	IL32_ENST00000444393.3_Missense_Mutation_p.P169T|IL32_ENST00000525643.2_Missense_Mutation_p.P169T|IL32_ENST00000551513.1_Missense_Mutation_p.P206T|IL32_ENST00000552356.1_Missense_Mutation_p.P149T|IL32_ENST00000530538.2_Missense_Mutation_p.P169T|IL32_ENST00000530890.1_Missense_Mutation_p.P149T|IL32_ENST00000529699.1_Missense_Mutation_p.P149T|IL32_ENST00000528163.2_Missense_Mutation_p.P169T|IL32_ENST00000396887.3_Missense_Mutation_p.P112T|IL32_ENST00000548476.1_Missense_Mutation_p.P215T|IL32_ENST00000549213.1_Missense_Mutation_p.P112T|IL32_ENST00000548652.1_Missense_Mutation_p.P160T|IL32_ENST00000396890.2_Missense_Mutation_p.P215T|IL32_ENST00000008180.9_Missense_Mutation_p.P149T|IL32_ENST00000551122.1_Missense_Mutation_p.P112T|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000382213.3_Missense_Mutation_p.P160T|IL32_ENST00000325568.5_Missense_Mutation_p.P169T|IL32_ENST00000552664.1_Missense_Mutation_p.P169T|IL32_ENST00000548246.1_Missense_Mutation_p.P129T|IL32_ENST00000552936.1_Missense_Mutation_p.P193T|IL32_ENST00000526464.2_Missense_Mutation_p.P169T|IL32_ENST00000440815.3_Missense_Mutation_p.P169T|IL32_ENST00000529550.1_Missense_Mutation_p.P169T|IL32_ENST00000533097.2_Missense_Mutation_p.P169T|IL32_ENST00000531965.1_Missense_Mutation_p.P159T			P24001	IL32_HUMAN	interleukin 32	215					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)		p.P169T(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CTACGGAGCCCCACGGGGGGA	0.582																																						ENST00000525643.2																			1	Substitution - Missense(1)	p.P169T(1)	lung(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(505-507)Cca>Aca		interleukin 32							95.0	124.0	114.0					16																	3119294		2197	4300	6497	SO:0001583	missense	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119294C>A	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	ENST00000534507.1:c.643C>A	16.37:g.3119294C>A	ENSP00000431775:p.Pro215Thr		Somatic				IL32_ENST00000396887.3_Missense_Mutation_p.P112T|IL32_ENST00000548476.1_Missense_Mutation_p.P215T|IL32_ENST00000531965.1_Missense_Mutation_p.P159T|IL32_ENST00000529550.1_Missense_Mutation_p.P169T|IL32_ENST00000549213.1_Missense_Mutation_p.P112T|IL32_ENST00000529699.1_Missense_Mutation_p.P149T|IL32_ENST00000552664.1_Missense_Mutation_p.P169T|IL32_ENST00000534507.1_Missense_Mutation_p.P215T|IL32_ENST00000008180.9_Missense_Mutation_p.P149T|IL32_ENST00000548652.1_Missense_Mutation_p.P160T|IL32_ENST00000552936.1_Missense_Mutation_p.P193T|IL32_ENST00000530538.2_Missense_Mutation_p.P169T|IL32_ENST00000528163.2_Missense_Mutation_p.P169T|IL32_ENST00000551513.1_Missense_Mutation_p.P206T|IL32_ENST00000440815.3_Missense_Mutation_p.P169T|IL32_ENST00000382213.3_Missense_Mutation_p.P160T|IL32_ENST00000526464.2_Missense_Mutation_p.P169T|IL32_ENST00000325568.5_Missense_Mutation_p.P169T|IL32_ENST00000530890.1_Missense_Mutation_p.P149T|IL32_ENST00000548246.1_Missense_Mutation_p.P129T|IL32_ENST00000396890.2_Missense_Mutation_p.P215T|IL32_ENST00000552356.1_Missense_Mutation_p.P149T|IL32_ENST00000444393.3_Missense_Mutation_p.P169T|IL32_ENST00000533097.2_Missense_Mutation_p.P169T|IL32_ENST00000551122.1_Missense_Mutation_p.P112T	p.P169T			WXS	Illumina GAIIx	Phase_I	P24001	IL32_HUMAN			7	837	+			215					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Missense_Mutation	SNP	ENST00000534507.1	37	c.505C>A		.	.	.	.	.	.	.	.	.	.	C	4.454	0.084032	0.08583	.	.	ENSG00000008517	ENST00000325568;ENST00000534507;ENST00000531965;ENST00000396887;ENST00000529699;ENST00000526464;ENST00000440815;ENST00000529550;ENST00000551122;ENST00000525643;ENST00000548807;ENST00000528163;ENST00000530890;ENST00000444393;ENST00000533097;ENST00000008180;ENST00000396890;ENST00000548652;ENST00000530538;ENST00000549213;ENST00000552936;ENST00000548476;ENST00000552664;ENST00000552356;ENST00000551513;ENST00000382213;ENST00000548246	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57436	0.42;0.44;0.42;0.4;0.42;0.42;0.42;0.42;0.4;0.42;0.44;0.42;0.43;0.42;0.42;0.43;0.44;0.42;0.42;0.4;0.44;0.44;0.42;0.43;0.44;0.42;0.42	1.71	-0.364	0.12553	.	.	.	.	.	T	0.40694	0.1127	N	0.08118	0	0.09310	N	1	P;P;P;P;P;P;P	0.51449	0.833;0.938;0.938;0.833;0.833;0.938;0.945	B;B;B;B;B;B;P	0.56648	0.151;0.192;0.192;0.197;0.151;0.192;0.803	T	0.26710	-1.0095	9	0.87932	D	0	.	4.0362	0.09730	0.0:0.5866:0.0:0.4134	.	129;149;160;149;215;169;112	B8Q191;C6GKH1;A6NNM0;A8MPX0;P24001;P24001-2;P24001-4	.;.;.;.;IL32_HUMAN;.;.	T	169;215;159;112;149;169;169;169;112;169;215;169;149;169;169;149;215;160;169;112;193;215;169;149;206;160;129	ENSP00000324742:P169T;ENSP00000431775:P215T;ENSP00000433177:P159T;ENSP00000380096:P112T;ENSP00000436937:P149T;ENSP00000450364:P169T;ENSP00000405063:P169T;ENSP00000437020:P169T;ENSP00000447496:P112T;ENSP00000432218:P169T;ENSP00000448354:P215T;ENSP00000432850:P169T;ENSP00000433747:P149T;ENSP00000411958:P169T;ENSP00000432917:P169T;ENSP00000008180:P149T;ENSP00000380099:P215T;ENSP00000446624:P160T;ENSP00000436929:P169T;ENSP00000447812:P112T;ENSP00000447033:P193T;ENSP00000449483:P215T;ENSP00000448683:P169T;ENSP00000446978:P149T;ENSP00000449147:P206T;ENSP00000371648:P160T;ENSP00000447979:P129T	ENSP00000008180:P149T	P	+	1	0	IL32	3059295	0.142000	0.22610	0.000000	0.03702	0.001000	0.01503	0.729000	0.26028	-0.050000	0.13356	0.543000	0.68304	CCA		0.582	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		3	63	1	0	0.184627	1	0.188705	3	63				
ZP2	7783	broad.mit.edu	37	16	21209092	21209092	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:21209092G>A	ENST00000574002.1	-	19	2572	c.2090C>T	c.(2089-2091)tCa>tTa	p.S697L	ZP2_ENST00000574091.1_Missense_Mutation_p.S688L|ZP2_ENST00000219593.4_Missense_Mutation_p.S697L|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	697					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CTTACCTCGTGAGCCAACCTC	0.473																																						ENST00000574002.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41						c.(2089-2091)tCa>tTa		zona pellucida glycoprotein 2 (sperm receptor)							193.0	158.0	170.0					16																	21209092		2200	4300	6500	SO:0001583	missense	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21209092G>A	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.2090C>T	16.37:g.21209092G>A	ENSP00000460971:p.Ser697Leu		Somatic				ZP2_ENST00000219593.4_Missense_Mutation_p.S697L|ZP2_ENST00000574091.1_Missense_Mutation_p.S688L|AF001550.7_ENST00000572747.1_RNA	p.S697L			WXS	Illumina GAIIx	Phase_I	Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	19	2572	-			697					B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	c.2090C>T	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.544451	0.27563	.	.	ENSG00000103310	ENST00000219593	T	0.77489	-1.1	4.36	-4.5	0.03493	.	2.661270	0.01140	N	0.006185	T	0.52256	0.1723	N	0.04203	-0.255	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.41124	-0.9526	10	0.72032	D	0.01	19.2315	0.5547	0.00669	0.3572:0.2627:0.199:0.181	.	688;697	Q4VAP1;Q05996	.;ZP2_HUMAN	L	697	ENSP00000219593:S697L	ENSP00000219593:S697L	S	-	2	0	ZP2	21116593	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.426000	0.02443	-0.823000	0.04301	0.563000	0.77884	TCA		0.473	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			9	518	0	0	0	1	0	9	518				
IQCH	64799	broad.mit.edu	37	15	67677314	67677314	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:67677314C>T	ENST00000335894.4	+	11	1479	c.1413C>T	c.(1411-1413)aaC>aaT	p.N471N	IQCH_ENST00000360277.4_Silent_p.N223N|IQCH_ENST00000546225.1_Silent_p.N219N|IQCH_ENST00000358767.3_Silent_p.N298N	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	471										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CCGATTTCAACACACAGCAGA	0.418																																						ENST00000335894.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33						c.(1411-1413)aaC>aaT		IQ motif containing H							314.0	294.0	301.0					15																	67677314		2201	4299	6500	SO:0001819	synonymous_variant	64799							g.chr15:67677314C>T	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.1413C>T	15.37:g.67677314C>T			Somatic				IQCH_ENST00000358767.3_Silent_p.N298N|IQCH_ENST00000360277.4_Silent_p.N223N|IQCH_ENST00000546225.1_Silent_p.N219N	p.N471N	NM_001031715.2	NP_001026885.1	WXS	Illumina GAIIx	Phase_I	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	11	1479	+			471					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Silent	SNP	ENST00000335894.4	37	c.1413C>T	CCDS32273.1																																																																																				0.418	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		4	245	0	0	0	1	0	4	245				
MED17	9440	broad.mit.edu	37	11	93542882	93542882	+	Splice_Site	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:93542882G>T	ENST00000251871.3	+	11	1871		c.e11-1		MED17_ENST00000533367.1_Splice_Site	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17						androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTCATTCACAGATGTCACAGC	0.463																																						ENST00000251871.3																			0				large_intestine(2)|lung(11)|ovary(1)	14						c.e11-1		mediator complex subunit 17							174.0	149.0	157.0					11																	93542882		2201	4298	6499	SO:0001630	splice_region_variant	9440				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr11:93542882G>T	AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"""cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)"", ""cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"""	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.1585-1G>T	11.37:g.93542882G>T			Somatic				MED17_ENST00000533367.1_Splice_Site		NM_004268.4	NP_004259.3	WXS	Illumina GAIIx	Phase_I	Q9NVC6	MED17_HUMAN			11	1871	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)						B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Splice_Site	SNP	ENST00000251871.3	37		CCDS8295.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041222	0.75732	.	.	ENSG00000042429	ENST00000251871;ENST00000427225	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0822	0.97779	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MED17	93182530	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	9.719000	0.98760	2.826000	0.97356	0.563000	0.77884	.		0.463	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268	Intron	11	153	1	0	1.08611e-07	1	1.33534e-07	11	153				
CNOT7	29883	broad.mit.edu	37	8	17102635	17102635	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:17102635G>T	ENST00000361272.4	-	2	325	c.27C>A	c.(25-27)agC>agA	p.S9R	VPS37A_ENST00000324815.3_5'Flank|VPS37A_ENST00000324849.4_5'Flank|CNOT7_ENST00000523917.1_Missense_Mutation_p.S9R|VPS37A_ENST00000521005.1_5'Flank|CNOT7_ENST00000518885.1_5'UTR|VPS37A_ENST00000521829.1_5'Flank	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	9					carbohydrate metabolic process (GO:0005975)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		AAATTCTTTGGCTATGATCTA	0.383																																						ENST00000361272.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11						c.(25-27)agC>agA		CCR4-NOT transcription complex, subunit 7							60.0	58.0	58.0					8																	17102635		2203	4300	6503	SO:0001583	missense	29883				carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr8:17102635G>T	L46722	CCDS6000.2, CCDS55202.1	8p22-p21.3	2008-08-07			ENSG00000198791	ENSG00000198791			14101	protein-coding gene	gene with protein product	"""BTG1 binding factor 1"""	604913		CAF1		10637334, 1538749, 17264152	Standard	XM_005273481		Approved		uc003wxg.1	Q9UIV1	OTTHUMG00000096971	ENST00000361272.4:c.27C>A	8.37:g.17102635G>T	ENSP00000355279:p.Ser9Arg		Somatic				CNOT7_ENST00000523917.1_Missense_Mutation_p.S9R|CNOT7_ENST00000518885.1_5'UTR	p.S9R	NM_013354.5	NP_037486.2	WXS	Illumina GAIIx	Phase_I	Q9UIV1	CNOT7_HUMAN		Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)	2	325	-			9					A8MZM5|B3KMP1|B3KN35|D3DSP6|G3V108|Q7Z530	Missense_Mutation	SNP	ENST00000361272.4	37	c.27C>A	CCDS6000.2	.	.	.	.	.	.	.	.	.	.	G	15.20	2.761776	0.49468	.	.	ENSG00000198791	ENST00000361272;ENST00000523917;ENST00000524358;ENST00000520178	T;T;T;T	0.51325	0.93;0.93;0.93;0.71	4.77	4.77	0.60923	Ribonuclease H-like (1);	0.039365	0.85682	D	0.000000	T	0.46600	0.1401	L	0.46885	1.475	0.80722	D	1	B;B	0.31383	0.321;0.072	B;B	0.35607	0.206;0.046	T	0.37572	-0.9700	10	0.28530	T	0.3	-4.5659	18.6693	0.91504	0.0:0.0:1.0:0.0	.	9;9	G3V108;Q9UIV1	.;CNOT7_HUMAN	R	9	ENSP00000355279:S9R;ENSP00000429093:S9R;ENSP00000430160:S9R;ENSP00000429079:S9R	ENSP00000355279:S9R	S	-	3	2	CNOT7	17147006	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.393000	0.73217	2.581000	0.87130	0.650000	0.86243	AGC		0.383	CNOT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214038.1	NM_013354		14	83	1	0	3.45872e-05	1	4.01938e-05	14	83				
CYP2R1	120227	broad.mit.edu	37	11	14900719	14900719	+	Missense_Mutation	SNP	C	C	A	rs199962113		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:14900719C>A	ENST00000334636.5	-	4	1317	c.1271G>T	c.(1270-1272)cGa>cTa	p.R424L	CYP2R1_ENST00000532378.1_Missense_Mutation_p.R191L|CYP2R1_ENST00000526489.1_5'Flank	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	424					small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	GTCCAGAAATCGCTCAGGATG	0.403																																					NSCLC(173;1584 2058 26117 29365 41534)	ENST00000532378.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(571-573)cGa>cTa		cytochrome P450, family 2, subfamily R, polypeptide 1	Cholecalciferol(DB00169)|Ergocalciferol(DB00153)						61.0	60.0	61.0					11																	14900719		2200	4293	6493	SO:0001583	missense	120227				hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity	g.chr11:14900719C>A	AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104		"""Cytochrome P450s"""	20580	protein-coding gene	gene with protein product		608713				12464240, 12867411	Standard	XM_005252788		Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.1271G>T	11.37:g.14900719C>A	ENSP00000334592:p.Arg424Leu		Somatic				CYP2R1_ENST00000334636.5_Missense_Mutation_p.R424L	p.R191L			WXS	Illumina GAIIx	Phase_I	Q6VVX0	CP2R1_HUMAN			5	1426	-			424					Q2M3H3|Q5RT65	Missense_Mutation	SNP	ENST00000334636.5	37	c.572G>T	CCDS7818.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382458	0.82792	.	.	ENSG00000186104	ENST00000532378;ENST00000334636	D;D	0.94184	-3.37;-3.37	5.76	5.76	0.90799	.	0.050057	0.85682	D	0.000000	D	0.97971	0.9332	H	0.95574	3.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98364	1.0550	10	0.87932	D	0	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	424;191	Q6VVX0;E9PJT9	CP2R1_HUMAN;.	L	191;424	ENSP00000435484:R191L;ENSP00000334592:R424L	ENSP00000334592:R424L	R	-	2	0	CYP2R1	14857295	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.797000	0.69087	2.882000	0.98803	0.655000	0.94253	CGA		0.403	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386985.1	NM_024514		61	255	1	0	3.28615e-30	1	4.6592e-30	61	255				
HUWE1	10075	broad.mit.edu	37	X	53560368	53560368	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:53560368T>A	ENST00000342160.3	-	83	13484	c.13027A>T	c.(13027-13029)Aat>Tat	p.N4343Y	HUWE1_ENST00000262854.6_Missense_Mutation_p.N4343Y			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4343	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCCAGCTGATTAAAACTAAGG	0.507																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(13027-13029)Aat>Tat		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							50.0	45.0	47.0					X																	53560368		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53560368T>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.13027A>T	X.37:g.53560368T>A	ENSP00000340648:p.Asn4343Tyr		Somatic				HUWE1_ENST00000262854.6_Missense_Mutation_p.N4343Y	p.N4343Y			WXS	Illumina GAIIx	Phase_I	Q7Z6Z7	HUWE1_HUMAN			83	13484	-			4343			HECT.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.13027A>T	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.17|11.17	1.558593|1.558593	0.27827|0.27827	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.54675|.	0.56;0.56|.	5.3|5.3	5.3|5.3	0.74995|0.74995	HECT (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.84835|.	0.5560|.	M|M	0.93241|0.93241	3.395|3.395	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|.	0.88761|.	0.3257|.	10|.	0.87932|.	D|.	0|.	.|.	13.4066|13.4066	0.60917|0.60917	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	4343;4327|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	Y|L	4343|3376;1165	ENSP00000340648:N4343Y;ENSP00000262854:N4343Y|.	ENSP00000262854:N4343Y|.	N|X	-|-	1|2	0|2	HUWE1|HUWE1	53577093|53577093	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	7.296000|7.296000	0.78790|0.78790	1.877000|1.877000	0.54381|0.54381	0.417000|0.417000	0.27973|0.27973	AAT|TAA		0.507	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		5	163	0	0	0	1	0	5	163				
SLC35B4	84912	broad.mit.edu	37	7	133985015	133985015	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:133985015T>A	ENST00000378509.4	-	7	787		c.e7-2			NM_032826.4	NP_116215.1	Q969S0	S35B4_HUMAN	solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4						carbohydrate transport (GO:0008643)|regulation of gluconeogenesis (GO:0006111)|transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine transport (GO:0015788)|UDP-xylose transport (GO:0015790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)|UDP-xylose transmembrane transporter activity (GO:0005464)			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						CCCCAATACCTAAAAAACAAA	0.378																																						ENST00000378509.4																			0				large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						c.e7-2		solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4							99.0	93.0	95.0					7																	133985015		2203	4300	6503	SO:0001630	splice_region_variant	84912					Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity	g.chr7:133985015T>A	AB052892	CCDS34756.1	7q33	2013-07-17	2013-07-17		ENSG00000205060	ENSG00000205060		"""Solute carriers"""	20584	protein-coding gene	gene with protein product		610923	"""solute carrier family 35, member B4"""				Standard	NM_032826		Approved	FLJ14697, YEA4	uc003vrn.3	Q969S0	OTTHUMG00000155321	ENST00000378509.4:c.488-2A>T	7.37:g.133985015T>A			Somatic						NM_032826.4	NP_116215.1	WXS	Illumina GAIIx	Phase_I	Q969S0	S35B4_HUMAN			7	787	-								A4D1P3|A6NNS4|Q53GQ7|Q8TCU7|Q96K33	Splice_Site	SNP	ENST00000378509.4	37		CCDS34756.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.479594	0.84747	.	.	ENSG00000205060	ENST00000378509	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7756	0.78214	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC35B4	133635555	1.000000	0.71417	0.993000	0.49108	0.859000	0.49053	7.927000	0.87577	2.214000	0.71695	0.528000	0.53228	.		0.378	SLC35B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339444.2	NM_032826	Intron	7	250	0	0	0	1	0	7	250				
SST	6750	broad.mit.edu	37	3	187386955	187386955	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:187386955C>T	ENST00000287641.3	-	2	356	c.249G>A	c.(247-249)agG>agA	p.R83R		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	83					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hyperosmotic response (GO:0006972)|negative regulation of cell proliferation (GO:0008285)|regulation of cell migration (GO:0030334)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to heat (GO:0009408)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Cysteamine(DB00847)	GCAGCTCAAGCCTCATTTCAT	0.517																																						ENST00000287641.3																			0				kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9						c.(247-249)agG>agA		somatostatin	Bromocriptine(DB01200)|Cysteamine(DB00847)						266.0	249.0	255.0					3																	187386955		2203	4300	6503	SO:0001819	synonymous_variant	6750				digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity	g.chr3:187386955C>T		CCDS3288.1	3q28	2013-02-28			ENSG00000157005	ENSG00000157005		"""Endogenous ligands"""	11329	protein-coding gene	gene with protein product	"""somatostatin-14"", ""somatostatin-28"", ""prepro-somatostatin"""	182450				6126875, 6142531	Standard	NM_001048		Approved	SMST	uc003frn.3	P61278	OTTHUMG00000156462	ENST00000287641.3:c.249G>A	3.37:g.187386955C>T			Somatic					p.R83R	NM_001048.3	NP_001039.1	WXS	Illumina GAIIx	Phase_I	P61278	SMS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	2	356	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		83					B2R5G3|P01166	Silent	SNP	ENST00000287641.3	37	c.249G>A	CCDS3288.1																																																																																				0.517	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344278.1	NM_001048		11	1405	0	0	0	1	0	11	1405				
ZNF451	26036	broad.mit.edu	37	6	57013287	57013287	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:57013287G>T	ENST00000370706.4	+	10	2648	c.2404G>T	c.(2404-2406)Gag>Tag	p.E802*	ZNF451_ENST00000357489.3_Nonsense_Mutation_p.E802*|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|ZNF451_ENST00000491832.2_Nonsense_Mutation_p.E802*|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	802					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TCATGATCCTGAGAGTGCACA	0.423																																						ENST00000370706.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(2404-2406)Gag>Tag		zinc finger protein 451							114.0	105.0	108.0					6																	57013287		2203	4300	6503	SO:0001587	stop_gained	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57013287G>T	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.2404G>T	6.37:g.57013287G>T	ENSP00000359740:p.Glu802*		Somatic				ZNF451_ENST00000357489.3_Nonsense_Mutation_p.E802*|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000491832.2_Nonsense_Mutation_p.E802*|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA	p.E802*	NM_001031623.2	NP_001026794.1	WXS	Illumina GAIIx	Phase_I	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		10	2648	+	Lung NSC(77;0.145)		802					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Nonsense_Mutation	SNP	ENST00000370706.4	37	c.2404G>T	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	G	39	7.425422	0.98275	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	.	.	.	5.32	5.32	0.75619	.	0.237591	0.42420	D	0.000718	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-5.2684	11.4125	0.49933	0.0:0.1426:0.7264:0.131	.	.	.	.	X	802	.	ENSP00000350083:E802X	E	+	1	0	ZNF451	57121246	0.881000	0.30235	0.997000	0.53966	0.964000	0.63967	0.917000	0.28665	2.645000	0.89757	0.650000	0.86243	GAG		0.423	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		3	63	1	0	0.004672	1	0.00507046	3	63				
GRIA1	2890	broad.mit.edu	37	5	153190646	153190646	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:153190646G>A	ENST00000285900.5	+	16	2925	c.2582G>A	c.(2581-2583)cGc>cAc	p.R861H	GRIA1_ENST00000518142.1_Missense_Mutation_p.R781H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R792H|GRIA1_ENST00000340592.5_Missense_Mutation_p.R861H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R871H|GRIA1_ENST00000518783.1_Missense_Mutation_p.R871H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	861					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	ACCCTCCCCCGCAACAGCGGG	0.592																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2581-2583)cGc>cAc		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						45.0	50.0	48.0					5																	153190646		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153190646G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2582G>A	5.37:g.153190646G>A	ENSP00000285900:p.Arg861His		Somatic				GRIA1_ENST00000518783.1_Missense_Mutation_p.R871H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R792H|GRIA1_ENST00000340592.5_Missense_Mutation_p.R861H|GRIA1_ENST00000518142.1_Missense_Mutation_p.R781H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R871H	p.R861H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	WXS	Illumina GAIIx	Phase_I	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		16	2925	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	861					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2582G>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950626	0.92660	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.12984	2.68;2.63;2.68;2.63;2.63;2.67;2.67	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.20941	0.0504	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.998;0.996;0.999;0.996	P;P;P;P;P	0.62014	0.791;0.791;0.572;0.897;0.572	T	0.09618	-1.0666	10	0.87932	D	0	.	17.6489	0.88157	0.0:0.0:1.0:0.0	.	871;871;781;861;861	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	H	861;861;781;861;794;792;871;871	ENSP00000285900:R861H;ENSP00000427920:R781H;ENSP00000339343:R861H;ENSP00000427864:R794H;ENSP00000442108:R792H;ENSP00000428994:R871H;ENSP00000415569:R871H	ENSP00000285900:R861H	R	+	2	0	GRIA1	153170839	1.000000	0.71417	0.919000	0.36401	0.877000	0.50540	9.200000	0.95010	2.399000	0.81585	0.655000	0.94253	CGC		0.592	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			9	29	0	0	0	1	0	9	29				
RGPD3	653489	broad.mit.edu	37	2	107050819	107050819	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:107050819C>A	ENST00000409886.3	-	15	2157	c.2070G>T	c.(2068-2070)agG>agT	p.R690S	RGPD3_ENST00000304514.7_Missense_Mutation_p.R690S	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	690					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTTCTGCCTTCCTGTGAAAAA	0.368																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2068-2070)agG>agT		RANBP2-like and GRIP domain containing 3							91.0	68.0	75.0					2																	107050819		692	1591	2283	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107050819C>A		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2070G>T	2.37:g.107050819C>A	ENSP00000386588:p.Arg690Ser		Somatic				RGPD3_ENST00000304514.7_Missense_Mutation_p.R690S	p.R690S	NM_001144013.1	NP_001137485.1	WXS	Illumina GAIIx	Phase_I	A6NKT7	RGPD3_HUMAN			15	2157	-			690					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2070G>T	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	7.807	0.714905	0.15306	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.21031	2.03;2.03	2.53	-0.16	0.13375	.	.	.	.	.	T	0.35393	0.0930	M	0.67953	2.075	0.27326	N	0.956897	P	0.51653	0.947	D	0.67231	0.95	T	0.20107	-1.0285	9	0.72032	D	0.01	-7.4853	3.1102	0.06356	0.2115:0.5383:0.0:0.2502	.	690	A6NKT7	RGPD3_HUMAN	S	690;448;690	ENSP00000386588:R690S;ENSP00000303659:R690S	ENSP00000303659:R690S	R	-	3	2	RGPD3	106417251	0.998000	0.40836	0.998000	0.56505	0.593000	0.36681	0.308000	0.19314	-0.203000	0.10251	0.194000	0.17425	AGG		0.368	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		5	60	1	0	0.248553	1	0.252018	5	60				
DGKI	9162	broad.mit.edu	37	7	137237231	137237231	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:137237231C>T	ENST00000288490.5	-	20	2031	c.2031G>A	c.(2029-2031)atG>atA	p.M677I	DGKI_ENST00000424189.2_Missense_Mutation_p.M677I|DGKI_ENST00000446122.1_Missense_Mutation_p.M677I|DGKI_ENST00000453654.2_Missense_Mutation_p.M377I	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	677					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CATCCACTTGCATGGGGATGG	0.517																																						ENST00000453654.1																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(1129-1131)atG>atA		diacylglycerol kinase, iota							142.0	134.0	137.0					7																	137237231		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137237231C>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2031G>A	7.37:g.137237231C>T	ENSP00000288490:p.Met677Ile		Somatic				DGKI_ENST00000424189.2_Missense_Mutation_p.M677I|DGKI_ENST00000288490.5_Missense_Mutation_p.M677I|DGKI_ENST00000446122.1_Missense_Mutation_p.M677I	p.M377I			WXS	Illumina GAIIx	Phase_I	O75912	DGKI_HUMAN			20	1670	-			677			DAGKc.		A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.1131G>A	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706626	0.68615	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.29917	1.55;1.55;1.55	5.44	5.44	0.79542	Diacylglycerol kinase, accessory domain (2);	0.041777	0.85682	D	0.000000	T	0.33585	0.0868	L	0.42581	1.335	0.80722	D	1	B;B	0.29085	0.095;0.232	B;B	0.32393	0.088;0.145	T	0.11941	-1.0567	10	0.62326	D	0.03	.	19.6391	0.95749	0.0:1.0:0.0:0.0	.	377;677	E9PFX6;O75912	.;DGKI_HUMAN	I	377;625;677;677;677	ENSP00000392161:M377I;ENSP00000288490:M677I;ENSP00000399131:M677I	ENSP00000288490:M677I	M	-	3	0	DGKI	136887771	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.824000	0.62701	2.715000	0.92844	0.655000	0.94253	ATG		0.517	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		8	821	0	0	0	1	0	8	821				
TMTC4	84899	broad.mit.edu	37	13	101294527	101294527	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr13:101294527G>T	ENST00000376234.3	-	6	811	c.622C>A	c.(622-624)Ctg>Atg	p.L208M	TMTC4_ENST00000342624.5_Missense_Mutation_p.L227M|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Missense_Mutation_p.L97M	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	208						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ATACTCAGCAGCACCCAGAAG	0.502																																						ENST00000342624.5																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(679-681)Ctg>Atg		transmembrane and tetratricopeptide repeat containing 4							133.0	145.0	141.0					13																	101294527		2069	4202	6271	SO:0001583	missense	84899					integral to membrane	binding	g.chr13:101294527G>T		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.622C>A	13.37:g.101294527G>T	ENSP00000365408:p.Leu208Met		Somatic				TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000376234.3_Missense_Mutation_p.L208M|TMTC4_ENST00000328767.5_Missense_Mutation_p.L97M	p.L227M	NM_032813.2	NP_116202.2	WXS	Illumina GAIIx	Phase_I	Q5T4D3	TMTC4_HUMAN			7	937	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		208					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	c.679C>A	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920663	0.33908	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.63580	-0.05;-0.05;0.83	5.72	0.219	0.15274	.	0.347229	0.30762	N	0.008934	T	0.46908	0.1417	L	0.47716	1.5	0.35186	D	0.77294	B;B;B	0.32731	0.126;0.073;0.382	B;B;B	0.34931	0.049;0.043;0.192	T	0.43702	-0.9375	10	0.46703	T	0.11	.	2.0726	0.03617	0.4265:0.1281:0.3195:0.1259	.	97;208;227	B7Z666;Q5T4D3;Q5T4D3-3	.;TMTC4_HUMAN;.	M	208;227;97	ENSP00000365408:L208M;ENSP00000343871:L227M;ENSP00000365409:L97M	ENSP00000365409:L97M	L	-	1	2	TMTC4	100092528	0.004000	0.15560	0.997000	0.53966	0.976000	0.68499	-0.083000	0.11286	0.114000	0.18032	0.563000	0.77884	CTG		0.502	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		40	152	1	0	4.45467e-35	1	6.38711e-35	40	152				
MTCL1	23255	broad.mit.edu	37	18	8825455	8825455	+	Missense_Mutation	SNP	C	C	A	rs375774425		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr18:8825455C>A	ENST00000306329.11	+	13	4904	c.4904C>A	c.(4903-4905)aCg>aAg	p.T1635K	SOGA2_ENST00000517570.1_Missense_Mutation_p.T1275K|SOGA2_ENST00000400050.3_Missense_Mutation_p.T1275K|SOGA2_ENST00000306285.7_Missense_Mutation_p.T641K|SOGA2_ENST00000518815.1_Missense_Mutation_p.T641K|SOGA2_ENST00000359865.3_Missense_Mutation_p.T1316K																							GGGTCCCGGACGATGGGGACC	0.612																																						ENST00000359865.3																			0											c.(3946-3948)aCg>aAg		SOGA family member 2							34.0	34.0	34.0					18																	8825455		2203	4299	6502	SO:0001583	missense	23255							g.chr18:8825455C>A																												ENST00000306329.11:c.4904C>A	18.37:g.8825455C>A	ENSP00000305027:p.Thr1635Lys		Somatic				SOGA2_ENST00000518815.1_Missense_Mutation_p.T641K|SOGA2_ENST00000306285.7_Missense_Mutation_p.T641K|SOGA2_ENST00000517570.1_Missense_Mutation_p.T1275K|SOGA2_ENST00000306329.11_Missense_Mutation_p.T1635K|SOGA2_ENST00000400050.3_Missense_Mutation_p.T1275K	p.T1316K	NM_015210.3	NP_056025.2	WXS	Illumina GAIIx	Phase_I	Q9Y4B5	CC165_HUMAN			15	4089	+			1626						Missense_Mutation	SNP	ENST00000306329.11	37	c.3947C>A		.	.	.	.	.	.	.	.	.	.	C	15.46	2.840397	0.51057	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.24	5.24	0.73138	.	0.285078	0.25490	N	0.030303	T	0.49270	0.1547	M	0.62723	1.935	0.41003	D	0.984943	D;D	0.69078	0.988;0.997	P;P	0.61132	0.753;0.884	T	0.52313	-0.8592	10	0.72032	D	0.01	-11.595	14.4332	0.67264	0.0:0.8527:0.1473:0.0	.	1626;1316	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	K	1337;1275;1316;1275;641	ENSP00000429556:T1275K;ENSP00000352927:T1316K;ENSP00000382924:T1275K;ENSP00000303670:T641K	ENSP00000303670:T641K	T	+	2	0	CCDC165	8815455	0.998000	0.40836	0.980000	0.43619	0.951000	0.60555	3.813000	0.55636	2.448000	0.82819	0.655000	0.94253	ACG		0.612	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			5	26	1	0	0.0215528	1	0.022713	5	26				
MAP3K13	9175	broad.mit.edu	37	3	185198109	185198109	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:185198109G>C	ENST00000265026.3	+	13	2925	c.2591G>C	c.(2590-2592)aGt>aCt	p.S864T	MAP3K13_ENST00000446828.1_Missense_Mutation_p.S657T|MAP3K13_ENST00000443863.1_Missense_Mutation_p.S720T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.S720T|TMEM41A_ENST00000475480.1_5'UTR|MAP3K13_ENST00000424227.1_Missense_Mutation_p.S864T	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GGAAATACCAGTGACCACTCA	0.488																																						ENST00000265026.3																			0				NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2590-2592)aGt>aCt		mitogen-activated protein kinase kinase kinase 13							100.0	98.0	99.0					3																	185198109		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185198109G>C	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.2591G>C	3.37:g.185198109G>C	ENSP00000265026:p.Ser864Thr		Somatic				MAP3K13_ENST00000446828.1_Missense_Mutation_p.S657T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.S720T|MAP3K13_ENST00000424227.1_Missense_Mutation_p.S864T|TMEM41A_ENST00000475480.1_5'UTR|MAP3K13_ENST00000443863.1_Missense_Mutation_p.S720T	p.S864T	NM_004721.4	NP_004712.1	WXS	Illumina GAIIx	Phase_I	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		13	2925	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		864						Missense_Mutation	SNP	ENST00000265026.3	37	c.2591G>C	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.289597	0.80914	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.22975	0.0555	N	0.12182	0.205	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.78314	0.991;0.991;0.98	T	0.13683	-1.0500	10	0.39692	T	0.17	.	19.8657	0.96803	0.0:0.0:1.0:0.0	.	720;657;864	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	T	657;864;720;720;864	ENSP00000411483:S657T;ENSP00000399910:S864T;ENSP00000409325:S720T;ENSP00000439257:S720T;ENSP00000265026:S864T	ENSP00000265026:S864T	S	+	2	0	MAP3K13	186680803	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	9.804000	0.99143	2.686000	0.91538	0.655000	0.94253	AGT		0.488	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		4	130	0	0	0	1	0	4	130				
TCHH	7062	broad.mit.edu	37	1	152081372	152081372	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:152081372G>A	ENST00000368804.1	-	2	4320	c.4321C>T	c.(4321-4323)Cgc>Tgc	p.R1441C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1441	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTTCCTGGCGGCGCACCTGC	0.577											OREG0031687	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)																										ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(4321-4323)Cgc>Tgc		trichohyalin							93.0	92.0	92.0					1																	152081372		1902	4109	6011	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152081372G>A	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4321C>T	1.37:g.152081372G>A	ENSP00000357794:p.Arg1441Cys		Somatic	OREG0031687	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	1745		p.R1441C	NM_007113.2	NP_009044.2	WXS	Illumina GAIIx	Phase_I	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4320	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1441			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.4321C>T	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	g	9.643	1.139571	0.21205	.	.	ENSG00000159450	ENST00000368804	T	0.05580	3.42	4.28	2.11	0.27256	.	.	.	.	.	T	0.04497	0.0123	N	0.22421	0.69	0.09310	N	1	D	0.76494	0.999	P	0.58928	0.848	T	0.43130	-0.9410	9	0.59425	D	0.04	.	9.0513	0.36378	0.0:0.0:0.6814:0.3186	.	1441	Q07283	TRHY_HUMAN	C	1441	ENSP00000357794:R1441C	ENSP00000357794:R1441C	R	-	1	0	TCHH	150347996	0.000000	0.05858	0.004000	0.12327	0.071000	0.16799	-0.147000	0.10234	1.939000	0.56221	0.514000	0.50259	CGC		0.577	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		4	120	0	0	0	1	0	4	120				
VANGL2	57216	broad.mit.edu	37	1	160395071	160395071	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:160395071G>A	ENST00000368061.2	+	8	1943	c.1469G>A	c.(1468-1470)aGc>aAc	p.S490N		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	490					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGGTGGTCAGCACCAAGAAG	0.527																																						ENST00000368061.2																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37						c.(1468-1470)aGc>aAc		VANGL planar cell polarity protein 2							85.0	75.0	78.0					1																	160395071		2203	4300	6503	SO:0001583	missense	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160395071G>A	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.1469G>A	1.37:g.160395071G>A	ENSP00000357040:p.Ser490Asn		Somatic					p.S490N	NM_020335.2	NP_065068.1	WXS	Illumina GAIIx	Phase_I	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		8	1943	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		490					D3DVE9|Q5T212	Missense_Mutation	SNP	ENST00000368061.2	37	c.1469G>A	CCDS30915.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074910	0.36566	.	.	ENSG00000162738	ENST00000368061	T	0.80909	-1.43	4.17	4.17	0.49024	.	0.053632	0.64402	D	0.000001	T	0.57140	0.2033	N	0.11698	0.16	0.48571	D	0.999671	P	0.37914	0.611	B	0.40256	0.324	T	0.64351	-0.6428	10	0.35671	T	0.21	-24.9435	15.1991	0.73120	0.0:0.0:1.0:0.0	.	490	Q9ULK5	VANG2_HUMAN	N	490	ENSP00000357040:S490N	ENSP00000357040:S490N	S	+	2	0	VANGL2	158661695	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.527000	0.45615	2.112000	0.64535	0.591000	0.81541	AGC		0.527	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		4	346	0	0	0	1	0	4	346				
NELL2	4753	broad.mit.edu	37	12	45000995	45000995	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:45000995C>T	ENST00000429094.2	-	15	2124	c.1620G>A	c.(1618-1620)gtG>gtA	p.V540V	NELL2_ENST00000452445.2_Silent_p.V540V|NELL2_ENST00000395487.2_Silent_p.V539V|NELL2_ENST00000551601.1_Silent_p.V539V|NELL2_ENST00000333837.4_Silent_p.V563V|NELL2_ENST00000437801.2_Silent_p.V590V|NELL2_ENST00000549027.1_Silent_p.V539V	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	540	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GGCAGGCACACACATTAGCGG	0.383																																						ENST00000429094.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(1618-1620)gtG>gtA		NEL-like 2 (chicken)							88.0	84.0	85.0					12																	45000995		2203	4299	6502	SO:0001819	synonymous_variant	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45000995C>T	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1620G>A	12.37:g.45000995C>T			Somatic				NELL2_ENST00000549027.1_Silent_p.V539V|NELL2_ENST00000395487.2_Silent_p.V539V|NELL2_ENST00000333837.4_Silent_p.V563V|NELL2_ENST00000551601.1_Silent_p.V539V|NELL2_ENST00000452445.2_Silent_p.V540V|NELL2_ENST00000437801.2_Silent_p.V590V	p.V540V	NM_001145108.1	NP_001138580.1	WXS	Illumina GAIIx	Phase_I	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	15	2124	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	540			EGF-like 4.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000429094.2	37	c.1620G>A	CCDS8746.1																																																																																				0.383	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		23	71	0	0	0	1	0	23	71				
PKHD1L1	93035	broad.mit.edu	37	8	110535099	110535099	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:110535099G>T	ENST00000378402.5	+	75	12414	c.12310G>T	c.(12310-12312)Gta>Tta	p.V4104L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4104					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCAGCCTTCGGTAAAGGCAAC	0.458										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(12310-12312)Gta>Tta		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							41.0	45.0	44.0					8																	110535099		2170	4283	6453	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110535099G>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.12310G>T	8.37:g.110535099G>T	ENSP00000367655:p.Val4104Leu	HNSCC(38;0.096)	Somatic					p.V4104L	NM_177531.4	NP_803875.2	WXS	Illumina GAIIx	Phase_I	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		75	12414	+			4104					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.12310G>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	4.760	0.141299	0.09083	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.85484	-1.99;-1.9	5.96	3.95	0.45737	.	0.285739	0.33670	N	0.004672	T	0.74261	0.3693	L	0.35487	1.065	0.24406	N	0.994681	B	0.17268	0.021	B	0.11329	0.006	T	0.57493	-0.7802	10	0.18710	T	0.47	.	8.464	0.32944	0.221:0.0:0.779:0.0	.	4104	Q86WI1	PKHL1_HUMAN	L	4104;1032	ENSP00000367655:V4104L;ENSP00000437376:V1032L	ENSP00000367655:V4104L	V	+	1	0	PKHD1L1	110604275	0.001000	0.12720	1.000000	0.80357	0.956000	0.61745	-0.205000	0.09411	1.532000	0.49169	0.650000	0.86243	GTA		0.458	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		11	69	1	0	3.99206e-14	1	5.34726e-14	11	69				
SCN11A	11280	broad.mit.edu	37	3	38941494	38941494	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:38941494C>T	ENST00000302328.3	-	13	2111	c.1913G>A	c.(1912-1914)cGc>cAc	p.R638H	SCN11A_ENST00000450244.1_Missense_Mutation_p.R638H|SCN11A_ENST00000456224.3_Missense_Mutation_p.R638H|SCN11A_ENST00000444237.2_Missense_Mutation_p.R638H	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	638					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCAGCCTCGGCGAAAGTAGTG	0.423																																						ENST00000450244.1																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(1912-1914)cGc>cAc		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						89.0	87.0	87.0					3																	38941494		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38941494C>T	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.1913G>A	3.37:g.38941494C>T	ENSP00000307599:p.Arg638His		Somatic				SCN11A_ENST00000444237.2_Missense_Mutation_p.R638H|SCN11A_ENST00000302328.3_Missense_Mutation_p.R638H|SCN11A_ENST00000456224.3_Missense_Mutation_p.R638H	p.R638H			WXS	Illumina GAIIx	Phase_I	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	13	2111	-			638					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.1913G>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602667	0.46423	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98901	-5.22;-5.22;-5.22;-5.22	5.65	0.513	0.17000	Ion transport (1);	0.493796	0.23579	N	0.046672	D	0.96374	0.8817	M	0.63428	1.95	0.19575	N	0.999969	B	0.22346	0.068	B	0.17722	0.019	D	0.92693	0.6168	10	0.87932	D	0	.	5.5355	0.17009	0.1296:0.4069:0.0:0.4636	.	638	Q9UI33	SCNBA_HUMAN	H	638	ENSP00000307599:R638H;ENSP00000400945:R638H;ENSP00000416757:R638H;ENSP00000408028:R638H	ENSP00000307599:R638H	R	-	2	0	SCN11A	38916498	0.003000	0.15002	0.020000	0.16555	0.989000	0.77384	0.078000	0.14761	0.136000	0.18733	0.650000	0.86243	CGC		0.423	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		4	183	0	0	0	1	0	4	183				
TENM1	10178	broad.mit.edu	37	X	124097418	124097418	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:124097418C>T	ENST00000371130.3	-	1	248	c.185G>A	c.(184-186)aGa>aAa	p.R62K	TENM1_ENST00000422452.2_Missense_Mutation_p.R62K	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	62	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TTTCCTCTTTCTACTCTGGCT	0.368																																						ENST00000422452.2																			0											c.(184-186)aGa>aAa		teneurin transmembrane protein 1							229.0	213.0	219.0					X																	124097418		2203	4300	6503	SO:0001583	missense	10178							g.chrX:124097418C>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.185G>A	X.37:g.124097418C>T	ENSP00000360171:p.Arg62Lys		Somatic				TENM1_ENST00000371130.3_Missense_Mutation_p.R62K	p.R62K	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1	WXS	Illumina GAIIx	Phase_I					1	248	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.185G>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	4.175	0.031135	0.08101	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.25085	1.82;1.82	5.78	4.92	0.64577	Teneurin intracellular, N-terminal (2);	0.288046	0.34362	N	0.004031	T	0.13157	0.0319	N	0.12182	0.205	0.35995	D	0.836999	B;B;B	0.09022	0.002;0.002;0.0	B;B;B	0.10450	0.005;0.005;0.001	T	0.12344	-1.0551	10	0.02654	T	1	.	13.7327	0.62799	0.0:0.9243:0.0:0.0757	.	62;62;62	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	K	62	ENSP00000360171:R62K;ENSP00000403954:R62K	ENSP00000360171:R62K	R	-	2	0	ODZ1	123925099	1.000000	0.71417	0.874000	0.34290	0.818000	0.46254	2.428000	0.44749	1.178000	0.42870	0.600000	0.82982	AGA		0.368	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		5	321	0	0	0	1	0	5	321				
ATXN7L2	127002	broad.mit.edu	37	1	110032907	110032907	+	Silent	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:110032907G>T	ENST00000369870.3	+	9	1266	c.1251G>T	c.(1249-1251)ggG>ggT	p.G417G		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	417										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCACCTTTGGGAGCCGGCTGG	0.597											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369870.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17						c.(1249-1251)ggG>ggT		ataxin 7-like 2							104.0	94.0	97.0					1																	110032907		2203	4300	6503	SO:0001819	synonymous_variant	127002							g.chr1:110032907G>T	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.1251G>T	1.37:g.110032907G>T			Somatic	OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1424		p.G417G	NM_153340.4	NP_699171.3	WXS	Illumina GAIIx	Phase_I	Q5T6C5	AT7L2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)	9	1266	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	417						Silent	SNP	ENST00000369870.3	37	c.1251G>T	CCDS30794.1																																																																																				0.597	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		3	61	1	0	2.0095e-06	1	2.42378e-06	3	61				
NUP188	23511	broad.mit.edu	37	9	131733230	131733230	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:131733230G>T	ENST00000372577.2	+	11	1127	c.1106G>T	c.(1105-1107)gGa>gTa	p.G369V		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	369					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GCCAGTGGGGGAAATGATGTG	0.488																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(1105-1107)gGa>gTa		nucleoporin 188kDa							114.0	108.0	110.0					9																	131733230		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131733230G>T	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.1106G>T	9.37:g.131733230G>T	ENSP00000361658:p.Gly369Val		Somatic					p.G369V	NM_015354.1	NP_056169.1	WXS	Illumina GAIIx	Phase_I	Q5SRE5	NU188_HUMAN			11	1127	+			369					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.1106G>T	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296715	0.81025	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.66280	-0.2	5.5	5.5	0.81552	.	0.049660	0.85682	D	0.000000	T	0.65281	0.2676	N	0.24115	0.695	0.80722	D	1	D	0.63046	0.992	D	0.67548	0.952	T	0.68334	-0.5436	10	0.72032	D	0.01	2.4934	11.8056	0.52152	0.0799:0.0:0.9201:0.0	.	369	Q5SRE5	NU188_HUMAN	V	258;369	ENSP00000361658:G369V	ENSP00000349125:G258V	G	+	2	0	NUP188	130773051	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.584000	0.82572	2.585000	0.87301	0.462000	0.41574	GGA		0.488	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			19	377	1	0	3.62473e-10	1	4.65906e-10	19	377				
FYB	2533	broad.mit.edu	37	5	39153708	39153708	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:39153708T>A	ENST00000351578.6	-	3	1326		c.e3-2		FYB_ENST00000515010.1_Splice_Site|FYB_ENST00000540520.1_Splice_Site|FYB_ENST00000512982.1_Splice_Site|FYB_ENST00000505428.1_Splice_Site	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein						immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGCTAGTACCTAAGAAGCAAA	0.423																																						ENST00000351578.6																			0				endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45						c.e3-2		FYN binding protein							144.0	150.0	148.0					5																	39153708		1993	4161	6154	SO:0001630	splice_region_variant	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39153708T>A	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1136-2A>T	5.37:g.39153708T>A			Somatic				FYB_ENST00000505428.1_Splice_Site|FYB_ENST00000512982.1_Splice_Site|FYB_ENST00000515010.1_Splice_Site|FYB_ENST00000540520.1_Splice_Site		NM_199335.3	NP_955367.1	WXS	Illumina GAIIx	Phase_I	O15117	FYB_HUMAN	Epithelial(62;0.235)		3	1326	-	all_lung(31;0.000343)							A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Splice_Site	SNP	ENST00000351578.6	37		CCDS47200.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.977321	0.53720	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7599	0.46258	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FYB	39189465	1.000000	0.71417	0.994000	0.49952	0.728000	0.41692	3.595000	0.54016	1.853000	0.53794	0.459000	0.35465	.		0.423	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465	Intron	5	168	0	0	0	1	0	5	168				
PRDM7	11105	broad.mit.edu	37	16	90128381	90128381	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:90128381T>C	ENST00000449207.2	-	7	849	c.830A>G	c.(829-831)gAg>gGg	p.E277G	PRDM7_ENST00000407825.1_Missense_Mutation_p.E71G|PRDM7_ENST00000325921.6_Missense_Mutation_p.E71G	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	277	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		AATTCGGCCCTCATAGGGGCC	0.557																																						ENST00000407825.1																			0				lung(2)|ovary(2)|stomach(1)	5						c.(211-213)gAg>gGg		PR domain containing 7							108.0	105.0	106.0					16																	90128381		2198	4300	6498	SO:0001583	missense	11105					chromosome|nucleus	nucleic acid binding	g.chr16:90128381T>C	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.830A>G	16.37:g.90128381T>C	ENSP00000396732:p.Glu277Gly		Somatic				PRDM7_ENST00000449207.2_Missense_Mutation_p.E277G|PRDM7_ENST00000325921.6_Missense_Mutation_p.E71G	p.E71G			WXS	Illumina GAIIx	Phase_I	Q9NQW5	PRDM7_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	7	849	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	277			KRAB-related.		A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000449207.2	37	c.212A>G	CCDS45557.1	.	.	.	.	.	.	.	.	.	.	.	7.224	0.597887	0.13939	.	.	ENSG00000126856	ENST00000325921;ENST00000449207;ENST00000407825	T;T;T	0.60672	0.17;0.17;0.17	2.43	-0.381	0.12485	SET domain (2);	.	.	.	.	T	0.61899	0.2384	M	0.77486	2.375	0.39261	D	0.964216	D;P;P	0.61697	0.99;0.868;0.887	P;B;P	0.56216	0.794;0.33;0.65	T	0.62220	-0.6900	8	.	.	.	-13.592	1.684	0.02838	0.2899:0.1852:0.0:0.5249	.	71;277;71	Q9NQW5-1;Q9NQW5;Q9NQW5-2	.;PRDM7_HUMAN;.	G	71;277;71	ENSP00000315512:E71G;ENSP00000396732:E277G;ENSP00000385121:E71G	.	E	-	2	0	PRDM7	88655882	1.000000	0.71417	0.838000	0.33150	0.036000	0.12997	2.654000	0.46699	0.172000	0.19760	0.402000	0.26972	GAG		0.557	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			5	669	0	0	0	1	0	5	669				
VSIG4	11326	broad.mit.edu	37	X	65253426	65253426	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:65253426C>A	ENST00000374737.4	-	2	410	c.302G>T	c.(301-303)aGc>aTc	p.S101I	VSIG4_ENST00000455586.2_Missense_Mutation_p.S101I|VSIG4_ENST00000412866.2_Missense_Mutation_p.S101I	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	101	Ig-like 1.				complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTCCAGGGTGCTCAATTGGAG	0.532																																						ENST00000455586.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(301-303)aGc>aTc		V-set and immunoglobulin domain containing 4							141.0	120.0	127.0					X																	65253426		2203	4300	6503	SO:0001583	missense	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65253426C>A	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.302G>T	X.37:g.65253426C>A	ENSP00000363869:p.Ser101Ile		Somatic				VSIG4_ENST00000374737.4_Missense_Mutation_p.S101I|VSIG4_ENST00000412866.2_Missense_Mutation_p.S101I	p.S101I	NM_001184830.1	NP_001171759.1	WXS	Illumina GAIIx	Phase_I	Q9Y279	VSIG4_HUMAN			2	428	-			101			Ig-like 1.		Q6UXI4	Missense_Mutation	SNP	ENST00000374737.4	37	c.302G>T	CCDS14383.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.241|8.241	0.806842|0.806842	0.16467|0.16467	.|.	.|.	ENSG00000155659|ENSG00000155659	ENST00000427538|ENST00000374737;ENST00000455586;ENST00000412866	.|T;T;T	.|0.68479	.|-0.33;-0.33;-0.33	4.79|4.79	2.4|2.4	0.29515|0.29515	.|Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.427298	.|0.21901	.|N	.|0.067447	T|T	0.42291|0.42291	0.1196|0.1196	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	.|P;P;D;P;P	.|0.56035	.|0.947;0.86;0.974;0.931;0.946	.|B;B;P;B;B	.|0.46419	.|0.351;0.17;0.516;0.316;0.33	T|T	0.32322|0.32322	-0.9911|-0.9911	5|10	.|0.32370	.|T	.|0.25	-5.5457|-5.5457	6.3795|6.3795	0.21525|0.21525	0.0:0.1594:0.0:0.8406|0.0:0.1594:0.0:0.8406	.|.	.|101;101;91;101;101	.|C9J1L3;Q9Y279-2;C9JH67;Q9Y279-3;Q9Y279	.|.;.;.;.;VSIG4_HUMAN	D|I	27|101	.|ENSP00000363869:S101I;ENSP00000411581:S101I;ENSP00000394143:S101I	.|ENSP00000363869:S101I	E|S	-|-	3|2	2|0	VSIG4|VSIG4	65170151|65170151	0.485000|0.485000	0.25972|0.25972	0.432000|0.432000	0.26747|0.26747	0.226000|0.226000	0.24999|0.24999	1.259000|1.259000	0.32956|0.32956	0.103000|0.103000	0.17682|0.17682	-0.198000|-0.198000	0.12761|0.12761	GAG|AGC		0.532	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		8	408	1	0	1.76689e-08	1	2.19353e-08	8	408				
PRC1	9055	broad.mit.edu	37	15	91517866	91517866	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:91517866T>C	ENST00000361188.5	-	10	2510	c.1299A>G	c.(1297-1299)gcA>gcG	p.A433A	Y_RNA_ENST00000363272.1_RNA|PRC1_ENST00000442656.2_Silent_p.A392A|PRC1_ENST00000394249.3_Silent_p.A433A|PRC1_ENST00000361919.3_Silent_p.A433A|PRC1-AS1_ENST00000554388.1_RNA|PRC1-AS1_ENST00000556200.1_RNA					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					CCCATTGTTCTGCCACATACT	0.433																																						ENST00000361188.5																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25						c.(1297-1299)gcA>gcG		protein regulator of cytokinesis 1							401.0	353.0	369.0					15																	91517866		2198	4298	6496	SO:0001819	synonymous_variant	9055				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	g.chr15:91517866T>C	AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.1299A>G	15.37:g.91517866T>C			Somatic				PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_Silent_p.A433A|PRC1_ENST00000394249.3_Silent_p.A433A|PRC1_ENST00000442656.2_Silent_p.A392A	p.A433A			WXS	Illumina GAIIx	Phase_I	O43663	PRC1_HUMAN			10	2510	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		433			Spectrin-fold.			Silent	SNP	ENST00000361188.5	37	c.1299A>G	CCDS45352.1																																																																																				0.433	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		33	4648	0	0	0	1	0	33	4648				
UGT2B7	7364	broad.mit.edu	37	4	69962726	69962726	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:69962726T>C	ENST00000508661.1	+	1	515	c.488T>C	c.(487-489)cTa>cCa	p.L163P	UGT2B7_ENST00000305231.7_Missense_Mutation_p.L163P|UGT2B7_ENST00000509763.1_Intron			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	163					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CTGGCTGAGCTATTTAACATA	0.383																																						ENST00000305231.7																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(487-489)cTa>cCa		UDP glucuronosyltransferase 2 family, polypeptide B7							135.0	135.0	135.0					4																	69962726		2203	4299	6502	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69962726T>C	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.488T>C	4.37:g.69962726T>C	ENSP00000427659:p.Leu163Pro		Somatic				UGT2B7_ENST00000508661.1_Missense_Mutation_p.L163P|UGT2B7_ENST00000509763.1_Intron	p.L163P	NM_001074.2	NP_001065.2	WXS	Illumina GAIIx	Phase_I	P16662	UD2B7_HUMAN			1	534	+			163					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	37	c.488T>C		.	.	.	.	.	.	.	.	.	.	T	10.97	1.500149	0.26861	.	.	ENSG00000171234	ENST00000305231;ENST00000508661	T;T	0.68181	-0.31;-0.31	2.54	2.54	0.30619	.	0.334432	0.21060	U	0.080855	T	0.80696	0.4672	M	0.90542	3.125	0.09310	N	0.999999	D;D	0.60160	0.987;0.977	D;D	0.70935	0.971;0.954	T	0.68957	-0.5272	9	.	.	.	.	5.6495	0.17608	0.0:0.0:0.2828:0.7172	.	163;163	E9PBP8;P16662	.;UD2B7_HUMAN	P	163	ENSP00000304811:L163P;ENSP00000427659:L163P	.	L	+	2	0	UGT2B7	69997315	0.000000	0.05858	0.012000	0.15200	0.019000	0.09904	-0.094000	0.11094	1.157000	0.42530	0.260000	0.18958	CTA		0.383	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		36	351	0	0	0	1	0	36	351				
ITPR2	3709	broad.mit.edu	37	12	26809327	26809327	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:26809327G>T	ENST00000381340.3	-	19	2763	c.2347C>A	c.(2347-2349)Ctc>Atc	p.L783I		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	783					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)	TGCATGTGGAGCATGAGGCGA	0.552																																						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.(2347-2349)Ctc>Atc		inositol 1,4,5-trisphosphate receptor, type 2							75.0	80.0	79.0					12																	26809327		2042	4199	6241	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.chr12:26809327G>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.2347C>A	12.37:g.26809327G>T	ENSP00000370744:p.Leu783Ile		Somatic					p.L783I	NM_002223.2	NP_002214.2	WXS	Illumina GAIIx	Phase_I	Q14571	ITPR2_HUMAN			19	2763	-	Colorectal(261;0.0847)		783					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.2347C>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459269	0.84317	.	.	ENSG00000123104	ENST00000381340	D	0.93488	-3.23	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.96642	0.8904	M	0.88105	2.93	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95729	0.8773	10	0.36615	T	0.2	.	12.487	0.55879	0.0808:0.0:0.9192:0.0	.	783	Q14571	ITPR2_HUMAN	I	783	ENSP00000370744:L783I	ENSP00000370744:L783I	L	-	1	0	ITPR2	26700594	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.817000	0.55668	2.546000	0.85860	0.655000	0.94253	CTC		0.552	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		10	361	1	0	9.70103e-10	1	1.24066e-09	10	361				
GCLC	2729	broad.mit.edu	37	6	53364920	53364920	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:53364920A>G	ENST00000229416.6	-	15	2108	c.1625T>C	c.(1624-1626)cTt>cCt	p.L542P		NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	542					apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	CATGTTTTCAAGGTAAGAGTT	0.428																																						ENST00000229416.6																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1624-1626)cTt>cCt		glutamate-cysteine ligase, catalytic subunit	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)						129.0	121.0	124.0					6																	53364920		2203	4300	6503	SO:0001583	missense	2729				anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding	g.chr6:53364920A>G	M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.1625T>C	6.37:g.53364920A>G	ENSP00000229416:p.Leu542Pro		Somatic					p.L542P	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	WXS	Illumina GAIIx	Phase_I	P48506	GSH1_HUMAN			15	2108	-	Lung NSC(77;0.0137)		542					Q14399	Missense_Mutation	SNP	ENST00000229416.6	37	c.1625T>C	CCDS4952.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.771136	0.90108	.	.	ENSG00000001084	ENST00000229416	T	0.78924	-1.22	5.77	5.77	0.91146	.	0.119134	0.56097	D	0.000033	D	0.89904	0.6850	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.92434	0.5956	10	0.87932	D	0	.	16.383	0.83481	1.0:0.0:0.0:0.0	.	542	P48506	GSH1_HUMAN	P	542	ENSP00000229416:L542P	ENSP00000229416:L542P	L	-	2	0	GCLC	53472879	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	9.287000	0.95975	2.326000	0.78906	0.533000	0.62120	CTT		0.428	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359710.2			5	436	0	0	0	1	0	5	436				
C11orf53	341032	broad.mit.edu	37	11	111154999	111154999	+	Missense_Mutation	SNP	G	G	A	rs146857088		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:111154999G>A	ENST00000280325.4	+	3	353	c.206G>A	c.(205-207)cGg>cAg	p.R69Q		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	69										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		GGAGACTACCGGCCTCCGGCG	0.692																																						ENST00000280325.4																			0				endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8						c.(205-207)cGg>cAg		chromosome 11 open reading frame 53		G	GLN/ARG	0,4402		0,0,2201	41.0	48.0	45.0		206	4.7	1.0	11	dbSNP_134	45	1,8593	1.2+/-3.3	0,1,4296	no	missense	C11orf53	NM_198498.1	43	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	69/237	111154999	1,12995	2201	4297	6498	SO:0001583	missense	341032							g.chr11:111154999G>A	BC039669	CCDS31674.1	11q23.1	2012-05-31			ENSG00000150750	ENSG00000150750			30527	protein-coding gene	gene with protein product						12477932	Standard	NM_198498		Approved	MGC50104	uc001plc.3	Q8IXP5	OTTHUMG00000166656	ENST00000280325.4:c.206G>A	11.37:g.111154999G>A	ENSP00000280325:p.Arg69Gln		Somatic					p.R69Q	NM_198498.1	NP_940900.1	WXS	Illumina GAIIx	Phase_I	Q8IXP5	CK053_HUMAN		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)	3	353	+		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)	69						Missense_Mutation	SNP	ENST00000280325.4	37	c.206G>A	CCDS31674.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293090	0.80914	0.0	1.16E-4	ENSG00000150750	ENST00000280325	.	.	.	5.66	4.74	0.60224	.	0.057619	0.64402	D	0.000001	T	0.75012	0.3792	M	0.72894	2.215	0.47621	D	0.999472	D	0.89917	1.0	D	0.66497	0.944	T	0.75929	-0.3144	9	0.52906	T	0.07	-34.9344	12.7742	0.57437	0.0795:0.0:0.9205:0.0	.	69	Q8IXP5	CK053_HUMAN	Q	69	.	ENSP00000280325:R69Q	R	+	2	0	C11orf53	110660209	1.000000	0.71417	0.994000	0.49952	0.114000	0.19823	5.606000	0.67641	2.677000	0.91161	0.591000	0.81541	CGG		0.692	C11orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390989.1	NM_198498		4	201	0	0	0	1	0	4	201				
NSA2	10412	broad.mit.edu	37	5	74065165	74065165	+	Silent	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:74065165T>A	ENST00000296802.5	+	3	687	c.318T>A	c.(316-318)atT>atA	p.I106I	GFM2_ENST00000345239.2_5'Flank|GFM2_ENST00000427854.2_5'Flank|GFM2_ENST00000509430.1_5'Flank|GFM2_ENST00000296805.3_5'Flank|NSA2_ENST00000513356.1_3'UTR	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	106	Lys-rich.				rRNA processing (GO:0006364)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						CCAATATGATTAAACAGAAAA	0.373																																						ENST00000296802.5																			0				breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						c.(316-318)atT>atA		NSA2 ribosome biogenesis homolog (S. cerevisiae)							86.0	100.0	95.0					5																	74065165		2185	4256	6441	SO:0001819	synonymous_variant	10412				rRNA processing	nucleolus|ribonucleoprotein complex		g.chr5:74065165T>A	AF077615	CCDS4025.1, CCDS75260.1	5q13.3	2010-01-18			ENSG00000164346	ENSG00000164346			30728	protein-coding gene	gene with protein product	"""hairy cell leukemia protein 1"", ""TGF beta-inducible nuclear protein 1"""	612497				11124703, 10486207	Standard	NM_014886		Approved	HUSSY-29, HCLG1, FLJ94393, TINP1	uc003kdk.2	O95478	OTTHUMG00000131273	ENST00000296802.5:c.318T>A	5.37:g.74065165T>A			Somatic				NSA2_ENST00000513356.1_3'UTR	p.I106I	NM_014886.3	NP_055701.1	WXS	Illumina GAIIx	Phase_I	O95478	NSA2_HUMAN			3	687	+			106			Lys-rich.			Silent	SNP	ENST00000296802.5	37	c.318T>A	CCDS4025.1	.	.	.	.	.	.	.	.	.	.	T	10.53	1.374641	0.24857	.	.	ENSG00000164346	ENST00000515524	.	.	.	5.65	0.515	0.17013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9168	0.19059	0.1218:0.3637:0.0:0.5145	.	.	.	.	K	15	.	.	X	+	1	0	NSA2	74100921	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	0.732000	0.26072	-0.060000	0.13132	0.402000	0.26972	TAA		0.373	NSA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254041.3	NM_014886		8	439	0	0	0	1	0	8	439				
SCN5A	6331	broad.mit.edu	37	3	38595825	38595825	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:38595825G>T	ENST00000333535.4	-	27	4907	c.4758C>A	c.(4756-4758)taC>taA	p.Y1586*	SCN5A_ENST00000425664.1_Nonsense_Mutation_p.Y1568*|SCN5A_ENST00000443581.1_Nonsense_Mutation_p.Y1585*|SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.Y1532*|SCN5A_ENST00000414099.2_Nonsense_Mutation_p.Y1568*|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.Y1532*|SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.Y1532*|SCN5A_ENST00000413689.1_Nonsense_Mutation_p.Y1586*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.Y1585*			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1586					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TGTTGGTGAAGTAGTAGTGGC	0.532																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(4756-4758)taC>taA		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						132.0	140.0	137.0					3																	38595825		2105	4238	6343	SO:0001587	stop_gained	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38595825G>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.4758C>A	3.37:g.38595825G>T	ENSP00000328968:p.Tyr1586*		Somatic				SCN5A_ENST00000333535.4_Nonsense_Mutation_p.Y1586*|SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000425664.1_Nonsense_Mutation_p.Y1568*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.Y1585*|SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.Y1532*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.Y1532*|SCN5A_ENST00000443581.1_Nonsense_Mutation_p.Y1585*|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.Y1532*|SCN5A_ENST00000414099.2_Nonsense_Mutation_p.Y1568*	p.Y1586*	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	WXS	Illumina GAIIx	Phase_I	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	27	4951	-	Medulloblastoma(35;0.163)		1586					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Nonsense_Mutation	SNP	ENST00000333535.4	37	c.4758C>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	43	10.381694	0.99395	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000450102;ENST00000449557	.	.	.	3.69	2.81	0.32909	.	0.065749	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8201	0.35020	0.1847:0.0:0.8153:0.0	.	.	.	.	X	1568;1585;1586;1532;1585;1568;1586;1532;1532	.	ENSP00000328968:Y1586X	Y	-	3	2	SCN5A	38570829	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	2.779000	0.47734	0.764000	0.33197	0.462000	0.41574	TAC		0.532	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		50	425	1	0	7.34454e-26	1	1.02703e-25	50	425				
CLEC12B	387837	broad.mit.edu	37	12	10168295	10168295	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:10168295T>C	ENST00000338896.5	+	5	777	c.649T>C	c.(649-651)Tgg>Cgg	p.W217R	RP11-133L14.5_ENST00000544225.1_RNA|CLEC12B_ENST00000396502.1_Missense_Mutation_p.W217R|CLEC1B_ENST00000428126.2_5'Flank	NM_001129998.1	NP_001123470.1	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	217	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|large_intestine(2)|lung(5)	9						AAGTTGGTTCTGGGAAGATGG	0.418																																						ENST00000396502.1																			0				central_nervous_system(2)|large_intestine(2)|lung(5)	9						c.(649-651)Tgg>Cgg		C-type lectin domain family 12, member B							151.0	141.0	145.0					12																	10168295		2203	4300	6503	SO:0001583	missense	387837					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10168295T>C	AK128243	CCDS8610.1, CCDS44830.1	12p13.2	2010-08-17			ENSG00000256660	ENSG00000256660		"""C-type lectin domain containing"""	31966	protein-coding gene	gene with protein product						17562706	Standard	NM_205852		Approved		uc001qwz.2	Q2HXU8	OTTHUMG00000168397	ENST00000338896.5:c.649T>C	12.37:g.10168295T>C	ENSP00000344563:p.Trp217Arg		Somatic				RP11-133L14.5_ENST00000544225.1_RNA|CLEC12B_ENST00000338896.5_Missense_Mutation_p.W217R	p.W217R	NM_205852.2	NP_995324.2	WXS	Illumina GAIIx	Phase_I	Q2HXU8	CL12B_HUMAN			5	777	+			217			C-type lectin.		Q6UWF2|Q6ZRG0	Missense_Mutation	SNP	ENST00000338896.5	37	c.649T>C	CCDS44830.1	.	.	.	.	.	.	.	.	.	.	T	15.14	2.746401	0.49257	.	.	ENSG00000172322;ENSG00000256660;ENSG00000256660	ENST00000396506;ENST00000396502;ENST00000338896	T;T	0.37235	1.21;1.21	4.7	4.7	0.59300	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.761577	0.11512	N	0.556638	T	0.71151	0.3306	H	0.96080	3.765	0.39610	D	0.96986	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.75241	-0.3387	10	0.56958	D	0.05	.	11.1055	0.48201	0.0:0.0:0.0:1.0	.	217;217	Q2HXU8;Q2HXU8-2	CL12B_HUMAN;.	R	76;217;217	ENSP00000379759:W217R;ENSP00000344563:W217R	ENSP00000379763:W76R	W	+	1	0	CLEC12A;CLEC12B	10059562	0.990000	0.36364	0.917000	0.36280	0.680000	0.39746	3.246000	0.51414	2.060000	0.61445	0.402000	0.26972	TGG		0.418	CLEC12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399554.2	NM_205852		4	261	0	0	0	1	0	4	261				
OSBPL3	26031	broad.mit.edu	37	7	24881964	24881964	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:24881964A>G	ENST00000313367.2	-	13	1786	c.1335T>C	c.(1333-1335)acT>acC	p.T445T	OSBPL3_ENST00000352860.1_Silent_p.T414T|OSBPL3_ENST00000431825.2_Silent_p.T378T|OSBPL3_ENST00000396431.1_Silent_p.T414T|OSBPL3_ENST00000409069.1_Silent_p.T378T|OSBPL3_ENST00000353930.1_Silent_p.T409T|OSBPL3_ENST00000396429.1_Silent_p.T409T	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	445					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						AAAGGGAGTCAGTGATGGAGA	0.383																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(1333-1335)acT>acC		oxysterol binding protein-like 3							179.0	194.0	189.0					7																	24881964		2203	4300	6503	SO:0001819	synonymous_variant	26031				lipid transport		lipid binding|protein binding	g.chr7:24881964A>G	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1335T>C	7.37:g.24881964A>G			Somatic				OSBPL3_ENST00000396431.1_Silent_p.T414T|OSBPL3_ENST00000352860.1_Silent_p.T414T|OSBPL3_ENST00000353930.1_Silent_p.T409T|OSBPL3_ENST00000431825.2_Silent_p.T378T|OSBPL3_ENST00000409069.1_Silent_p.T378T|OSBPL3_ENST00000396429.1_Silent_p.T409T	p.T445T	NM_015550.2	NP_056365.1	WXS	Illumina GAIIx	Phase_I	Q9H4L5	OSBL3_HUMAN			13	1786	-			445					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Silent	SNP	ENST00000313367.2	37	c.1335T>C	CCDS5390.1																																																																																				0.383	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			9	662	0	0	0	1	0	9	662				
KAZALD1	81621	broad.mit.edu	37	10	102824601	102824601	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:102824601G>A	ENST00000370200.5	+	5	1165	c.839G>A	c.(838-840)gGc>gAc	p.G280D		NM_030929.4	NP_112191.2	Q96I82	KAZD1_HUMAN	Kazal-type serine peptidase inhibitor domain 1	280					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|regulation of cell growth (GO:0001558)	interstitial matrix (GO:0005614)		p.G280D(1)		endometrium(1)|ovary(1)|prostate(2)	4				Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		AACTCTACAGGCATCCCCCAG	0.557																																						ENST00000370200.5																			1	Substitution - Missense(1)	p.G280D(1)	endometrium(1)	endometrium(1)|ovary(1)|prostate(2)	4						c.(838-840)gGc>gAc		Kazal-type serine peptidase inhibitor domain 1							86.0	84.0	85.0					10																	102824601		2203	4300	6503	SO:0001583	missense	81621				cell differentiation|multicellular organismal development|ossification|regulation of cell growth		insulin-like growth factor binding	g.chr10:102824601G>A	AF333487	CCDS7509.1	10q24.32	2013-01-11	2005-08-17		ENSG00000107821	ENSG00000107821		"""Immunoglobulin superfamily / I-set domain containing"""	25460	protein-coding gene	gene with protein product		609208	"""Kazal-type serine protease inhibitor domain 1"""			12975309	Standard	NM_030929		Approved	FKSG40, FKSG28	uc001ksr.3	Q96I82	OTTHUMG00000018918	ENST00000370200.5:c.839G>A	10.37:g.102824601G>A	ENSP00000359219:p.Gly280Asp		Somatic					p.G280D	NM_030929.4	NP_112191.2	WXS	Illumina GAIIx	Phase_I	Q96I82	KAZD1_HUMAN		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)	5	1165	+			280					D3DR74|Q6ZMB1|Q9BQ73	Missense_Mutation	SNP	ENST00000370200.5	37	c.839G>A	CCDS7509.1	.	.	.	.	.	.	.	.	.	.	G	8.433	0.849081	0.17034	.	.	ENSG00000107821	ENST00000370200	T	0.60040	0.22	5.19	3.26	0.37387	.	0.337414	0.29846	N	0.011057	T	0.36880	0.0983	L	0.27053	0.805	0.09310	N	0.999998	B	0.18461	0.028	B	0.15052	0.012	T	0.09357	-1.0678	10	0.12103	T	0.63	-0.1384	8.1824	0.31319	0.1455:0.1515:0.703:0.0	.	280	Q96I82	KAZD1_HUMAN	D	280	ENSP00000359219:G280D	ENSP00000359219:G280D	G	+	2	0	KAZALD1	102814591	0.916000	0.31088	0.964000	0.40570	0.320000	0.28249	1.498000	0.35660	2.698000	0.92095	0.561000	0.74099	GGC		0.557	KAZALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049891.2	NM_030929		5	626	0	0	0	1	0	5	626				
SEC16A	9919	broad.mit.edu	37	9	139369159	139369159	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:139369159G>A	ENST00000371706.3	-	1	2408	c.2375C>T	c.(2374-2376)gCa>gTa	p.A792V	SEC16A_ENST00000431893.2_Missense_Mutation_p.A792V|SEC16A_ENST00000313050.7_Missense_Mutation_p.A970V|SEC16A_ENST00000290037.6_Missense_Mutation_p.A792V			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	792					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGTGCCGTGTGCAGGTGGAAC	0.493																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2908-2910)gCa>gTa		SEC16 homolog A (S. cerevisiae)							48.0	48.0	48.0					9																	139369159		1949	4147	6096	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139369159G>A	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.2375C>T	9.37:g.139369159G>A	ENSP00000360771:p.Ala792Val		Somatic				SEC16A_ENST00000290037.6_Missense_Mutation_p.A792V|SEC16A_ENST00000431893.2_Missense_Mutation_p.A792V|SEC16A_ENST00000371706.3_Missense_Mutation_p.A792V	p.A970V	NM_014866.1	NP_055681.1	WXS	Illumina GAIIx	Phase_I	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	1	2982	-		Myeloproliferative disorder(178;0.0511)	792			Pro-rich.|Required for endoplasmic reticulum localization.		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.2909C>T		.	.	.	.	.	.	.	.	.	.	G	16.43	3.120131	0.56613	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893	T;T;T;T	0.21543	2.0;2.03;2.03;2.03	5.65	1.25	0.21368	.	1.484940	0.03817	N	0.266941	T	0.19167	0.0460	L	0.50919	1.6	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.003;0.003	T	0.23404	-1.0189	10	0.19147	T	0.46	-0.8965	4.5231	0.11969	0.4417:0.1665:0.3918:0.0	.	970;792;792	F1T0I1;O15027-5;O15027-4	.;.;.	V	970;792;792;792	ENSP00000325827:A970V;ENSP00000360771:A792V;ENSP00000290037:A792V;ENSP00000387583:A792V	ENSP00000290037:A792V	A	-	2	0	SEC16A	138488980	0.000000	0.05858	0.000000	0.03702	0.298000	0.27526	0.443000	0.21644	0.060000	0.16281	0.655000	0.94253	GCA		0.493	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		19	17	0	0	0	1	0	19	17				
TADA1	117143	broad.mit.edu	37	1	166829540	166829540	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:166829540G>T	ENST00000367874.4	-	6	668	c.575C>A	c.(574-576)tCa>tAa	p.S192*	TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	192					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						TTTCCTTCTTGACACAACTGA	0.368																																						ENST00000367874.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						c.(574-576)tCa>tAa		transcriptional adaptor 1							110.0	94.0	99.0					1																	166829540		2203	4300	6503	SO:0001587	stop_gained	117143				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr1:166829540G>T	BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"""transcriptional adaptor 1 (HFI1 homolog, yeast)-like"", ""transcriptional adaptor 1 (HFI1 homolog, yeast)"""	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.575C>A	1.37:g.166829540G>T	ENSP00000356848:p.Ser192*		Somatic				TADA1_ENST00000467021.1_5'UTR	p.S192*	NM_053053.3	NP_444281.1	WXS	Illumina GAIIx	Phase_I	Q96BN2	TADA1_HUMAN			6	668	-			192					A8K4J9	Nonsense_Mutation	SNP	ENST00000367874.4	37	c.575C>A	CCDS1255.1	.	.	.	.	.	.	.	.	.	.	G	37	6.589216	0.97688	.	.	ENSG00000152382	ENST00000367874	.	.	.	5.73	5.73	0.89815	.	0.058175	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1471	17.41	0.87482	0.0:0.0:1.0:0.0	.	.	.	.	X	192	.	ENSP00000356848:S192X	S	-	2	0	TADA1	165096164	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.274000	0.78538	2.710000	0.92621	0.650000	0.86243	TCA		0.368	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082881.1	NM_053053		12	92	1	0	2.61681e-11	1	3.41528e-11	12	92				
FDX1	2230	broad.mit.edu	37	11	110327646	110327646	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:110327646A>G	ENST00000260270.2	+	3	553	c.315A>G	c.(313-315)gcA>gcG	p.A105A		NM_004109.4	NP_004100.1	P10109	ADX_HUMAN	ferredoxin 1	105	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				cholesterol metabolic process (GO:0008203)|hormone biosynthetic process (GO:0042446)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|iron ion binding (GO:0005506)			lung(2)	2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	TGTCAGGTGCATGTGAGGGAA	0.418																																						ENST00000260270.2																			0				lung(2)	2						c.(313-315)gcA>gcG		ferredoxin 1	Mitotane(DB00648)						349.0	285.0	307.0					11																	110327646		2201	4298	6499	SO:0001819	synonymous_variant	2230				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding	g.chr11:110327646A>G	M23668	CCDS8344.1	11q22.3	2008-02-01			ENSG00000137714	ENSG00000137714			3638	protein-coding gene	gene with protein product	"""adrenodoxin"""	103260		FDX		2969697	Standard	NM_004109		Approved	ADX	uc001pkx.3	P10109	OTTHUMG00000166589	ENST00000260270.2:c.315A>G	11.37:g.110327646A>G			Somatic					p.A105A	NM_004109.4	NP_004100.1	WXS	Illumina GAIIx	Phase_I	P10109	ADX_HUMAN		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	3	553	+		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	105			2Fe-2S ferredoxin-type.		B0YJ14|Q53YD6	Silent	SNP	ENST00000260270.2	37	c.315A>G	CCDS8344.1																																																																																				0.418	FDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390590.1	NM_004109		6	349	0	0	0	1	0	6	349				
FAM47C	442444	broad.mit.edu	37	X	37028864	37028864	+	Missense_Mutation	SNP	G	G	T	rs147158965	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:37028864G>T	ENST00000358047.3	+	1	2433	c.2381G>T	c.(2380-2382)cGt>cTt	p.R794L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	794										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCAAGACTCGTCGAGTGTCC	0.622																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(2380-2382)cGt>cTt		family with sequence similarity 47, member C							39.0	40.0	40.0					X																	37028864		2201	4300	6501	SO:0001583	missense	442444							g.chrX:37028864G>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2381G>T	X.37:g.37028864G>T	ENSP00000367913:p.Arg794Leu		Somatic					p.R794L	NM_001013736.2	NP_001013758.1	WXS	Illumina GAIIx	Phase_I	Q5HY64	FA47C_HUMAN			1	2433	+			794					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2381G>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	g	9.105	1.005209	0.19199	.	.	ENSG00000198173	ENST00000358047	T	0.13778	2.56	0.217	-0.433	0.12287	.	.	.	.	.	T	0.22475	0.0542	M	0.68317	2.08	0.09310	N	1	D	0.60575	0.988	P	0.57679	0.825	T	0.22382	-1.0218	9	0.41790	T	0.15	.	3.3303	0.07082	0.2719:0.2499:0.4782:0.0	.	794	Q5HY64	FA47C_HUMAN	L	794	ENSP00000367913:R794L	ENSP00000367913:R794L	R	+	2	0	FAM47C	36938785	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.664000	0.05292	-2.137000	0.00809	-2.151000	0.00333	CGT		0.622	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		6	64	1	0	3.35478e-16	1	4.55355e-16	6	64				
SLC7A9	11136	broad.mit.edu	37	19	33355682	33355682	+	Splice_Site	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:33355682G>A	ENST00000023064.4	-	3	279	c.88C>T	c.(88-90)Ctg>Ttg	p.L30L	SLC7A9_ENST00000587772.1_Splice_Site_p.L30L|RN7SKP22_ENST00000365097.1_RNA|SLC7A9_ENST00000590341.1_Splice_Site_p.L30L	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	30					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	ATGAGGCCCAGCTGGGTGTGG	0.647																																					GBM(181;1335 2108 9644 44178 46689)	ENST00000023064.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.e3-1		solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	L-Cystine(DB00138)						149.0	139.0	143.0					19																	33355682		2203	4300	6503	SO:0001630	splice_region_variant	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33355682G>A	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.88-1C>T	19.37:g.33355682G>A			Somatic				SLC7A9_ENST00000590341.1_Splice_Site_p.L30_splice|SLC7A9_ENST00000587772.1_Splice_Site_p.L30_splice	p.L30_splice	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	WXS	Illumina GAIIx	Phase_I	P82251	BAT1_HUMAN			3	279	-	Esophageal squamous(110;0.137)		30					B2R9A6	Splice_Site	SNP	ENST00000023064.4	37	c.87_splice	CCDS12425.1																																																																																				0.647	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1		Silent	6	286	0	0	0	1	0	6	286				
DTX1	1840	broad.mit.edu	37	12	113532655	113532655	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:113532655A>G	ENST00000257600.3	+	6	1792	c.1289A>G	c.(1288-1290)cAc>cGc	p.H430R	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	430					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GTGCTTCGGCACAAGGGCGTG	0.652																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(1288-1290)cAc>cGc		deltex homolog 1 (Drosophila)							52.0	46.0	48.0					12																	113532655		2202	4299	6501	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113532655A>G	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1289A>G	12.37:g.113532655A>G	ENSP00000257600:p.His430Arg		Somatic				DTX1_ENST00000547974.1_3'UTR	p.H430R	NM_004416.2	NP_004407.2	WXS	Illumina GAIIx	Phase_I	Q86Y01	DTX1_HUMAN			6	1792	+			430					O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.1289A>G	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	A	11.43	1.637038	0.29157	.	.	ENSG00000135144	ENST00000257600	T	0.66815	-0.23	4.14	4.14	0.48551	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.174451	0.49916	D	0.000126	T	0.49712	0.1573	N	0.19112	0.55	0.37680	D	0.923462	B	0.12013	0.005	B	0.14023	0.01	T	0.49916	-0.8888	10	0.28530	T	0.3	-11.4843	12.1591	0.54093	1.0:0.0:0.0:0.0	.	430	Q86Y01	DTX1_HUMAN	R	430	ENSP00000257600:H430R	ENSP00000257600:H430R	H	+	2	0	DTX1	112017038	1.000000	0.71417	0.951000	0.38953	0.957000	0.61999	3.617000	0.54181	1.508000	0.48769	0.374000	0.22700	CAC		0.652	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			8	137	0	0	0	1	0	8	137				
PSPC1	55269	broad.mit.edu	37	13	20346399	20346399	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr13:20346399C>A	ENST00000338910.4	-	2	816	c.657G>T	c.(655-657)ggG>ggT	p.G219G		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	219	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.|Sufficient for paraspeckles localization.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		GCAAGAATGCCCCATCACCAC	0.423																																						ENST00000338910.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(655-657)ggG>ggT		paraspeckle component 1							103.0	94.0	97.0					13																	20346399		1919	4152	6071	SO:0001819	synonymous_variant	55269				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding	g.chr13:20346399C>A	AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"""RNA binding motif (RRM) containing"""	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.657G>T	13.37:g.20346399C>A			Somatic					p.G219G	NM_001042414.2	NP_001035879.1	WXS	Illumina GAIIx	Phase_I	Q8WXF1	PSPC1_HUMAN		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)	2	816	-		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	219			RRM 2.|Sufficient for paraspeckles localization.		Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Silent	SNP	ENST00000338910.4	37	c.657G>T	CCDS41870.1																																																																																				0.423	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2			75	616	1	0	6.5209e-17	1	8.8747e-17	75	616				
ITGAM	3684	broad.mit.edu	37	16	31282301	31282301	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:31282301G>A	ENST00000287497.8	+	6	529	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	ITGAM_ENST00000544665.3_Missense_Mutation_p.A152T			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	152	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TAGTGACATTGCCTTCTTGAT	0.438																																						ENST00000544665.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(454-456)Gcc>Acc		integrin, alpha M (complement component 3 receptor 3 subunit)							238.0	222.0	227.0					16																	31282301		1940	4145	6085	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31282301G>A	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.454G>A	16.37:g.31282301G>A	ENSP00000287497:p.Ala152Thr		Somatic				ITGAM_ENST00000287497.8_Missense_Mutation_p.A152T	p.A152T	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	WXS	Illumina GAIIx	Phase_I	P11215	ITAM_HUMAN			6	525	+			152			VWFA.		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.454G>A	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930633	0.92389	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	D;D	0.83506	-1.73;-1.73	5.5	5.5	0.81552	von Willebrand factor, type A (3);	.	.	.	.	D	0.88804	0.6536	M	0.65975	2.015	0.36792	D	0.884881	D;D	0.64830	0.994;0.994	P;P	0.57324	0.818;0.818	D	0.91324	0.5084	9	0.72032	D	0.01	.	18.5274	0.90978	0.0:0.0:1.0:0.0	.	152;152	Q4VAK1;P11215	.;ITAM_HUMAN	T	152	ENSP00000441691:A152T;ENSP00000287497:A152T	ENSP00000287497:A152T	A	+	1	0	ITGAM	31189802	0.889000	0.30405	0.886000	0.34754	0.717000	0.41224	5.588000	0.67517	2.758000	0.94735	0.561000	0.74099	GCC		0.438	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		19	1180	0	0	0	1	0	19	1180				
LIX1	167410	broad.mit.edu	37	5	96460276	96460276	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:96460276G>T	ENST00000274382.4	-	2	435	c.140C>A	c.(139-141)gCa>gAa	p.A47E	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	47										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		ACTTGGGAATGCAGCCTTCTG	0.488																																						ENST00000274382.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10						c.(139-141)gCa>gAa		Lix1 homolog (chicken)							106.0	90.0	95.0					5																	96460276		2203	4300	6503	SO:0001583	missense	167410							g.chr5:96460276G>T		CCDS4088.1	5q15	2008-03-06	2008-03-06	2005-02-07	ENSG00000145721	ENSG00000145721			18581	protein-coding gene	gene with protein product		610466	"""chromosome 5 open reading frame 11"", ""Lix1 homolog (mouse)"""	C5orf11		11731258	Standard	NM_153234		Approved		uc003kmy.4	Q8N485	OTTHUMG00000128720	ENST00000274382.4:c.140C>A	5.37:g.96460276G>T	ENSP00000274382:p.Ala47Glu		Somatic				CTD-2215E18.1_ENST00000509481.1_Intron	p.A47E	NM_153234.4	NP_694966.3	WXS	Illumina GAIIx	Phase_I	Q8N485	LIX1_HUMAN		COAD - Colon adenocarcinoma(37;0.0733)	2	435	-		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)	47					A8K4R9|Q8N7I2	Missense_Mutation	SNP	ENST00000274382.4	37	c.140C>A	CCDS4088.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.995613	0.00435	.	.	ENSG00000145721	ENST00000274382;ENST00000512378	T	0.40756	1.02	5.24	3.05	0.35203	.	0.433718	0.26359	N	0.024833	T	0.11836	0.0288	N	0.01576	-0.805	0.20821	N	0.999846	B	0.21905	0.062	B	0.21546	0.035	T	0.35674	-0.9779	10	0.02654	T	1	-3.9203	4.6366	0.12527	0.4356:0.0:0.5644:0.0	.	47	Q8N485	LIX1_HUMAN	E	47;23	ENSP00000274382:A47E	ENSP00000274382:A47E	A	-	2	0	LIX1	96486032	0.866000	0.29940	0.153000	0.22517	0.099000	0.18886	3.422000	0.52749	1.341000	0.45600	0.491000	0.48974	GCA		0.488	LIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250625.1	NM_153234		10	270	1	0	1.33987e-11	1	1.75772e-11	10	270				
MYO7B	4648	broad.mit.edu	37	2	128367240	128367240	+	Missense_Mutation	SNP	C	C	T	rs557693820		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:128367240C>T	ENST00000409816.2	+	22	3006	c.2974C>T	c.(2974-2976)Cgg>Tgg	p.R992W	MYO7B_ENST00000389524.4_Missense_Mutation_p.R992W|MYO7B_ENST00000428314.1_Missense_Mutation_p.R992W			Q6PIF6	MYO7B_HUMAN	myosin VIIB	992	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACACATCCGGCGGCCCCTCCG	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		18218	0.001		0.0	False		,,,				2504	0.0					ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(2974-2976)Cgg>Tgg		myosin VIIB							89.0	100.0	97.0					2																	128367240		2007	4164	6171	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128367240C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2974C>T	2.37:g.128367240C>T	ENSP00000386461:p.Arg992Trp		Somatic				MYO7B_ENST00000409816.2_Missense_Mutation_p.R992W|MYO7B_ENST00000428314.1_Missense_Mutation_p.R992W	p.R992W			WXS	Illumina GAIIx	Phase_I	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	23	3027	+	Colorectal(110;0.1)		992			MyTH4 1.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.2974C>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875891	0.51695	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	D;D;D	0.88818	-2.43;-2.43;-2.43	5.28	2.06	0.26882	MyTH4 domain (2);	0.587434	0.16502	N	0.211620	D	0.91597	0.7345	M	0.81497	2.545	0.09310	N	0.999994	D	0.69078	0.997	P	0.50192	0.634	D	0.85555	0.1224	10	0.87932	D	0	.	15.8703	0.79115	0.7215:0.2785:0.0:0.0	.	992	Q6PIF6	MYO7B_HUMAN	W	992	ENSP00000374175:R992W;ENSP00000415090:R992W;ENSP00000386461:R992W	ENSP00000374175:R992W	R	+	1	2	MYO7B	128083710	0.025000	0.19082	0.101000	0.21167	0.678000	0.39670	0.737000	0.26144	0.046000	0.15833	0.561000	0.74099	CGG		0.587	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		3	54	0	0	0	1	0	3	54				
C12orf4	57102	broad.mit.edu	37	12	4628042	4628042	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:4628042C>A	ENST00000261250.3	-	7	820	c.733G>T	c.(733-735)Gaa>Taa	p.E245*	C12orf4_ENST00000545746.1_Nonsense_Mutation_p.E245*	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	245				E -> G (in Ref. 2; CAE46058). {ECO:0000305}.						NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		ACTTTAATTTCCTCACTAAAA	0.299																																						ENST00000261250.3																			0				NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13						c.(733-735)Gaa>Taa		chromosome 12 open reading frame 4							54.0	53.0	53.0					12																	4628042		2202	4293	6495	SO:0001587	stop_gained	57102							g.chr12:4628042C>A	AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.733G>T	12.37:g.4628042C>A	ENSP00000261250:p.Glu245*		Somatic				C12orf4_ENST00000545746.1_Nonsense_Mutation_p.E245*	p.E245*	NM_020374.2	NP_065107.1	WXS	Illumina GAIIx	Phase_I	Q9NQ89	CL004_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)	7	820	-			245	E -> G (in Ref. 2; CAE46058).				D3DUQ8|Q6MZH5	Nonsense_Mutation	SNP	ENST00000261250.3	37	c.733G>T	CCDS8528.1	.	.	.	.	.	.	.	.	.	.	C	37	6.078469	0.97262	.	.	ENSG00000047621	ENST00000261250;ENST00000545746;ENST00000541014	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	18.3049	0.90177	0.0:1.0:0.0:0.0	.	.	.	.	X	245;245;72	.	ENSP00000261250:E245X	E	-	1	0	C12orf4	4498303	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	5.198000	0.65147	2.637000	0.89404	0.585000	0.79938	GAA		0.299	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398992.1	NM_020374		9	35	1	0	0.335167	1	0.337822	9	35				
GUF1	60558	broad.mit.edu	37	4	44696433	44696433	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:44696433G>T	ENST00000281543.5	+	14	1812	c.1618G>T	c.(1618-1620)Gat>Tat	p.D540Y	RP11-700J17.1_ENST00000610260.1_RNA|GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						TTTTAGTTTTGATTACGAAGA	0.343																																						ENST00000281543.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.(1618-1620)Gat>Tat		GUF1 GTPase homolog (S. cerevisiae)							83.0	85.0	84.0					4																	44696433		2203	4298	6501	SO:0001583	missense	60558				translation	mitochondrial inner membrane	GTP binding|GTPase activity	g.chr4:44696433G>T		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1618G>T	4.37:g.44696433G>T	ENSP00000281543:p.Asp540Tyr		Somatic				GUF1_ENST00000506793.1_3'UTR	p.D540Y	NM_021927.2	NP_068746.2	WXS	Illumina GAIIx	Phase_I	Q8N442	GUF1_HUMAN			14	1812	+			540						Missense_Mutation	SNP	ENST00000281543.5	37	c.1618G>T	CCDS3468.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313895	0.81358	.	.	ENSG00000151806	ENST00000281543	T	0.64438	-0.1	5.41	5.41	0.78517	Elongation factor G/III/V (1);Translation elongation factor EFG/EF2, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.87079	0.6088	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91600	0.5294	10	0.87932	D	0	-19.6991	18.1904	0.89805	0.0:0.0:1.0:0.0	.	540	Q8N442	GUF1_HUMAN	Y	540	ENSP00000281543:D540Y	ENSP00000281543:D540Y	D	+	1	0	GUF1	44391190	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.389000	0.97243	2.540000	0.85666	0.591000	0.81541	GAT		0.343	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927		4	44	1	0	2.56e-06	1	3.07321e-06	4	44				
YTHDF2	51441	broad.mit.edu	37	1	29069235	29069235	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:29069235C>G	ENST00000373812.3	+	4	815	c.453C>G	c.(451-453)agC>agG	p.S151R	YTHDF2_ENST00000542507.1_Missense_Mutation_p.S151R|YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_Missense_Mutation_p.S101R	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	151	Localization to mRNA processing bodies (P-bodies).				humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GATATAGTAGCAATTATGCTT	0.448																																						ENST00000373812.3																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(451-453)agC>agG		YTH domain family, member 2							107.0	98.0	101.0					1																	29069235		1914	4122	6036	SO:0001583	missense	51441				humoral immune response			g.chr1:29069235C>G	AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"""YTH domain family 2"""			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.453C>G	1.37:g.29069235C>G	ENSP00000362918:p.Ser151Arg		Somatic				YTHDF2_ENST00000542507.1_Missense_Mutation_p.S151R|YTHDF2_ENST00000541996.1_Missense_Mutation_p.S101R|YTHDF2_ENST00000478283.1_3'UTR	p.S151R	NM_016258.2	NP_057342.2	WXS	Illumina GAIIx	Phase_I	Q9Y5A9	YTHD2_HUMAN		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	4	815	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	151					A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Missense_Mutation	SNP	ENST00000373812.3	37	c.453C>G	CCDS41296.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787405	0.31593	.	.	ENSG00000198492	ENST00000542507;ENST00000373812;ENST00000541996;ENST00000396232	T;T;T	0.47177	0.85;0.85;0.85	5.38	4.46	0.54185	.	0.038059	0.85682	D	0.000000	T	0.40956	0.1138	L	0.60455	1.87	0.53005	D	0.999963	P;P	0.45044	0.849;0.849	B;B	0.39027	0.288;0.288	T	0.42799	-0.9430	10	0.72032	D	0.01	-25.0293	7.563	0.27862	0.0:0.749:0.0:0.251	.	151;151	B5BU99;Q9Y5A9	.;YTHD2_HUMAN	R	151;151;101;151	ENSP00000444660:S151R;ENSP00000362918:S151R;ENSP00000439394:S101R	ENSP00000362918:S151R	S	+	3	2	YTHDF2	28941822	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.541000	0.45735	1.410000	0.46936	0.580000	0.79431	AGC		0.448	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010335.1	NM_016258		203	129	0	0	0	1	0	203	129				
PRTFDC1	56952	broad.mit.edu	37	10	25138782	25138782	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:25138782A>G	ENST00000320152.6	-	9	697	c.669T>C	c.(667-669)taT>taC	p.Y223Y	PRTFDC1_ENST00000376378.1_3'UTR	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	223					nucleoside metabolic process (GO:0009116)	cytosol (GO:0005829)	magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						TTTAGACTCGATATTTTTCTT	0.398																																						ENST00000320152.6																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						c.(667-669)taT>taC		phosphoribosyl transferase domain containing 1							226.0	192.0	203.0					10																	25138782		2202	4300	6502	SO:0001819	synonymous_variant	56952				adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity	g.chr10:25138782A>G	AF226056	CCDS7145.1, CCDS60506.1	10p12.31	2003-11-10			ENSG00000099256	ENSG00000099256			23333	protein-coding gene	gene with protein product		610751					Standard	XM_005252537		Approved	HHGP	uc001ise.1	Q9NRG1	OTTHUMG00000017829	ENST00000320152.6:c.669T>C	10.37:g.25138782A>G			Somatic				PRTFDC1_ENST00000376378.1_3'UTR	p.Y223Y	NM_020200.5	NP_064585.1	WXS	Illumina GAIIx	Phase_I	Q9NRG1	PRDC1_HUMAN			9	697	-			223					B7Z1Z3|Q53HA7|Q59EL9|Q5VV18|Q5VV20	Silent	SNP	ENST00000320152.6	37	c.669T>C	CCDS7145.1																																																																																				0.398	PRTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047243.2	NM_020200		4	335	0	0	0	1	0	4	335				
PLD1	5337	broad.mit.edu	37	3	171394541	171394541	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:171394541C>T	ENST00000351298.4	-	18	2205	c.2079G>A	c.(2077-2079)gtG>gtA	p.V693V	PLD1_ENST00000342215.6_Nonsense_Mutation_p.W584*|PLD1_ENST00000340989.4_Silent_p.V693V|PLD1_ENST00000356327.5_Silent_p.V655V	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	693	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AGTGACGTGCCACATCACGAG	0.542																																					NSCLC(149;2174 3517 34058)	ENST00000342215.6																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63						c.(1750-1752)tGg>tAg		phospholipase D1, phosphatidylcholine-specific	Choline(DB00122)						96.0	88.0	91.0					3																	171394541		2203	4300	6503	SO:0001819	synonymous_variant	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171394541C>T	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2079G>A	3.37:g.171394541C>T			Somatic				PLD1_ENST00000356327.5_Silent_p.V655V|PLD1_ENST00000351298.4_Silent_p.V693V|PLD1_ENST00000340989.4_Silent_p.V693V	p.W584*			WXS	Illumina GAIIx	Phase_I	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		16	1866	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		0			Catalytic.			Nonsense_Mutation	SNP	ENST00000351298.4	37	c.1751G>A	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	C	39	7.745089	0.98465	.	.	ENSG00000075651	ENST00000342215	.	.	.	5.81	1.57	0.23409	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4212	5.3168	0.15860	0.2631:0.4797:0.193:0.0641	.	.	.	.	X	584	.	ENSP00000339936:W584X	W	-	2	0	PLD1	172877235	0.974000	0.33945	0.979000	0.43373	0.951000	0.60555	0.172000	0.16704	0.774000	0.33427	0.557000	0.71058	TGG		0.542	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		53	512	0	0	0	1	0	53	512				
DPP6	1804	broad.mit.edu	37	7	154379738	154379738	+	Intron	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:154379738C>T	ENST00000377770.3	+	6	768				DPP6_ENST00000427557.1_Intron|DPP6_ENST00000406326.1_Missense_Mutation_p.P336S|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000404039.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6						cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCTGCTCACCCCGGGGATAAT	0.592																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000406326.1																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(1006-1008)Ccg>Tcg		dipeptidyl-peptidase 6							148.0	133.0	138.0					7																	154379738		876	1991	2867	SO:0001627	intron_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154379738C>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.628-49793C>T	7.37:g.154379738C>T			Somatic				DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron	p.P336S			WXS	Illumina GAIIx	Phase_I	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		6	1409	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	0						Missense_Mutation	SNP	ENST00000377770.3	37	c.1006C>T		.	.	.	.	.	.	.	.	.	.	C	7.002	0.555110	0.13436	.	.	ENSG00000130226	ENST00000406326	.	.	.	3.14	2.25	0.28309	.	.	.	.	.	T	0.30166	0.0756	.	.	.	0.09310	N	0.999999	B	0.13145	0.007	B	0.11329	0.006	T	0.27191	-1.0081	7	0.87932	D	0	.	6.2133	0.20642	0.0:0.861:0.0:0.139	.	336	Q8IYG9	.	S	336	.	ENSP00000384393:P336S	P	+	1	0	DPP6	154010671	0.000000	0.05858	0.014000	0.15608	0.103000	0.19146	0.215000	0.17562	0.862000	0.35528	0.455000	0.32223	CCG		0.592	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		6	951	0	0	0	1	0	6	951				
SPICE1	152185	broad.mit.edu	37	3	113169185	113169185	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:113169185G>A	ENST00000295872.4	-	15	2580	c.2321C>T	c.(2320-2322)aCt>aTt	p.T774I		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	774					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TGACCAACCAGTCCATGCTCT	0.373																																						ENST00000295872.4																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(2320-2322)aCt>aTt		spindle and centriole associated protein 1							112.0	101.0	105.0					3																	113169185		2203	4300	6503	SO:0001583	missense	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113169185G>A	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.2321C>T	3.37:g.113169185G>A	ENSP00000295872:p.Thr774Ile		Somatic					p.T774I	NM_144718.3	NP_653319.1	WXS	Illumina GAIIx	Phase_I	Q8N0Z3	SPICE_HUMAN			15	2580	-			774					D3DN72|Q8WUX6	Missense_Mutation	SNP	ENST00000295872.4	37	c.2321C>T	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617513	0.66787	.	.	ENSG00000163611	ENST00000295872	T	0.42900	0.96	5.48	4.59	0.56863	.	0.250624	0.35291	N	0.003316	T	0.54046	0.1834	M	0.68952	2.095	0.29471	N	0.857021	P;P	0.51351	0.944;0.9	P;P	0.53722	0.733;0.651	T	0.58020	-0.7710	10	0.66056	D	0.02	-11.6581	13.0957	0.59190	0.0:0.0:0.8392:0.1608	.	670;774	B3KX77;Q8N0Z3	.;SPICE_HUMAN	I	774	ENSP00000295872:T774I	ENSP00000295872:T774I	T	-	2	0	SPICE1	114651875	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.814000	0.55643	1.402000	0.46780	0.650000	0.86243	ACT		0.373	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		4	128	0	0	0	1	0	4	128				
OR52N5	390075	broad.mit.edu	37	11	5799370	5799370	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:5799370C>A	ENST00000317093.2	-	1	527	c.495G>T	c.(493-495)atG>atT	p.M165I	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GGAAAGGAATCATCAGCAATA	0.463																																						ENST00000317093.2																			0				endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33						c.(493-495)atG>atT		olfactory receptor, family 52, subfamily N, member 5							158.0	129.0	139.0					11																	5799370		2123	4094	6217	SO:0001583	missense	390075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5799370C>A	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.495G>T	11.37:g.5799370C>A	ENSP00000322866:p.Met165Ile		Somatic				TRIM5_ENST00000380027.1_Intron	p.M165I	NM_001001922.2	NP_001001922.2	WXS	Illumina GAIIx	Phase_I	Q8NH56	O52N5_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	527	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	165					B9EH12|Q6IFG2	Missense_Mutation	SNP	ENST00000317093.2	37	c.495G>T	CCDS31397.1	.	.	.	.	.	.	.	.	.	.	C	0.109	-1.141746	0.01728	.	.	ENSG00000181009	ENST00000317093	T	0.36699	1.24	3.7	1.48	0.22813	GPCR, rhodopsin-like superfamily (1);	0.211367	0.22711	U	0.056565	T	0.09905	0.0243	N	0.01522	-0.82	0.24700	N	0.993261	B	0.06786	0.001	B	0.14023	0.01	T	0.25984	-1.0116	10	0.12103	T	0.63	.	3.0296	0.06102	0.1731:0.4764:0.2515:0.099	.	165	Q8NH56	O52N5_HUMAN	I	165	ENSP00000322866:M165I	ENSP00000322866:M165I	M	-	3	0	OR52N5	5755946	0.000000	0.05858	0.927000	0.36925	0.344000	0.29017	-2.508000	0.00960	0.183000	0.20059	0.494000	0.49563	ATG		0.463	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1	NM_001001922		5	347	1	0	0.0215528	1	0.022713	5	347				
STAT6	6778	broad.mit.edu	37	12	57500503	57500503	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:57500503G>T	ENST00000300134.3	-	5	776	c.451C>A	c.(451-453)Ctg>Atg	p.L151M	STAT6_ENST00000454075.3_Missense_Mutation_p.L151M|STAT6_ENST00000543873.2_Missense_Mutation_p.L151M|STAT6_ENST00000556155.1_Missense_Mutation_p.L151M|STAT6_ENST00000537215.2_Missense_Mutation_p.L41M|STAT6_ENST00000538913.2_Missense_Mutation_p.L41M	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	151					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CCCTTCTGCAGGGCTTCTCGG	0.577																																						ENST00000300134.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						c.(451-453)Ctg>Atg		signal transducer and activator of transcription 6, interleukin-4 induced							74.0	83.0	80.0					12																	57500503		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57500503G>T	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.451C>A	12.37:g.57500503G>T	ENSP00000300134:p.Leu151Met		Somatic				STAT6_ENST00000543873.2_Missense_Mutation_p.L151M|STAT6_ENST00000538913.2_Missense_Mutation_p.L41M|STAT6_ENST00000537215.2_Missense_Mutation_p.L41M|STAT6_ENST00000556155.1_Missense_Mutation_p.L151M|STAT6_ENST00000454075.3_Missense_Mutation_p.L151M	p.L151M	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	WXS	Illumina GAIIx	Phase_I	P42226	STAT6_HUMAN			5	776	-			151					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.451C>A	CCDS8931.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909142	0.33721	.	.	ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721;ENST00000542516;ENST00000555849;ENST00000556259;ENST00000553499	T;T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95;-0.95	4.96	0.993	0.19825	STAT transcription factor, all-alpha (1);STAT transcription factor, coiled coil (1);	0.384213	0.23219	N	0.050585	T	0.71796	0.3382	L	0.29908	0.895	0.36149	D	0.847356	P;D	0.89917	0.773;1.0	B;D	0.81914	0.27;0.995	T	0.70310	-0.4907	10	0.39692	T	0.17	-5.6424	3.4473	0.07484	0.287:0.0:0.5336:0.1795	.	151;151	A8K4S9;P42226	.;STAT6_HUMAN	M	151;41;41;151;151;41;151;41;151;151;133;151	ENSP00000300134:L151M;ENSP00000445409:L41M;ENSP00000438451:L151M;ENSP00000451742:L151M;ENSP00000444530:L41M;ENSP00000401486:L151M	ENSP00000300134:L151M	L	-	1	2	STAT6	55786770	0.584000	0.26766	0.338000	0.25549	0.151000	0.21798	0.814000	0.27239	0.216000	0.20781	0.655000	0.94253	CTG		0.577	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		38	386	1	0	1.69475e-38	1	2.45065e-38	38	386				
ZNF17	7565	broad.mit.edu	37	19	57932141	57932141	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:57932141C>T	ENST00000601808.1	+	3	1494	c.1281C>T	c.(1279-1281)tcC>tcT	p.S427S	ZNF17_ENST00000307658.7_Silent_p.S429S|AC004076.7_ENST00000597410.1_Intron	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	427					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		TGGACACTTCCACACTCATTA	0.383																																					Melanoma(149;1637 1853 29914 42869 44988)	ENST00000307658.7																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1285-1287)tcC>tcT		zinc finger protein 17							77.0	81.0	79.0					19																	57932141		2195	4298	6493	SO:0001819	synonymous_variant	7565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57932141C>T	X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.1281C>T	19.37:g.57932141C>T			Somatic				ZNF17_ENST00000601808.1_Silent_p.S427S|AC004076.7_ENST00000597410.1_Intron	p.S429S			WXS	Illumina GAIIx	Phase_I	P17021	ZNF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)	4	1550	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	427					B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Silent	SNP	ENST00000601808.1	37	c.1287C>T	CCDS42636.1																																																																																				0.383	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959		4	165	0	0	0	1	0	4	165				
TANGO6	79613	broad.mit.edu	37	16	68961602	68961602	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:68961602C>A	ENST00000261778.1	+	13	2271	c.2259C>A	c.(2257-2259)gcC>gcA	p.A753A	RP11-521L9.1_ENST00000562790.1_lincRNA	NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	753						integral component of membrane (GO:0016021)											CCCATGGAGCCTTTGCCACTG	0.493																																						ENST00000261778.1																			0											c.(2257-2259)gcC>gcA		transport and golgi organization 6 homolog (Drosophila)							148.0	147.0	147.0					16																	68961602		2038	4220	6258	SO:0001819	synonymous_variant	79613							g.chr16:68961602C>A		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.2259C>A	16.37:g.68961602C>A			Somatic				RP11-521L9.1_ENST00000562790.1_lincRNA	p.A753A	NM_024562.1	NP_078838.1	WXS	Illumina GAIIx	Phase_I					13	2271	+								Q569F9|Q9H9K1	Silent	SNP	ENST00000261778.1	37	c.2259C>A	CCDS45516.1																																																																																				0.493	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		62	351	1	0	9.12251e-31	1	1.29703e-30	62	351				
OR8U1	219417	broad.mit.edu	37	11	56143231	56143231	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:56143231T>C	ENST00000302270.1	+	1	132	c.132T>C	c.(130-132)ggT>ggC	p.G44G		NM_001005204.1	NP_001005204.1	Q8NH10	OR8U1_HUMAN	olfactory receptor, family 8, subfamily U, member 1	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					GCAACTTGGGTTTGATCCTAC	0.423																																						ENST00000302270.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39						c.(130-132)ggT>ggC		olfactory receptor, family 8, subfamily U, member 1							312.0	277.0	288.0					11																	56143231		1942	4150	6092	SO:0001819	synonymous_variant	219417							g.chr11:56143231T>C	AB065603	CCDS41647.1	11q11	2012-08-09			ENSG00000172199	ENSG00000172199		"""GPCR / Class A : Olfactory receptors"""	19611	protein-coding gene	gene with protein product							Standard	NM_001005204		Approved			Q8NH10	OTTHUMG00000166860	ENST00000302270.1:c.132T>C	11.37:g.56143231T>C			Somatic					p.G44G	NM_001005204.1	NP_001005204.1	WXS	Illumina GAIIx	Phase_I					1	132	+	Esophageal squamous(21;0.00448)								Silent	SNP	ENST00000302270.1	37	c.132T>C	CCDS41647.1																																																																																				0.423	OR8U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391607.1	NM_001005204		5	730	0	0	0	1	0	5	730				
CPA5	93979	broad.mit.edu	37	7	130008311	130008311	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:130008311G>A	ENST00000485477.1	+	12	2313	c.1184G>A	c.(1183-1185)aGc>aAc	p.S395N	CPA5_ENST00000355388.3_Missense_Mutation_p.S395N|CPA5_ENST00000461828.1_Missense_Mutation_p.S395N|CPA5_ENST00000393213.3_Missense_Mutation_p.S395N|CPA5_ENST00000474905.1_Missense_Mutation_p.S395N|CPA5_ENST00000431780.2_Missense_Mutation_p.A367T|CPA5_ENST00000466363.2_Missense_Mutation_p.S395N			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	395						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TACGCCTTCAGCTTTGAGCTC	0.567																																						ENST00000485477.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23						c.(1183-1185)aGc>aAc		carboxypeptidase A5							153.0	134.0	140.0					7																	130008311		2203	4300	6503	SO:0001583	missense	93979				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130008311G>A	AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.1184G>A	7.37:g.130008311G>A	ENSP00000420237:p.Ser395Asn		Somatic				CPA5_ENST00000355388.3_Missense_Mutation_p.S395N|CPA5_ENST00000461828.1_Missense_Mutation_p.S395N|CPA5_ENST00000393213.3_Missense_Mutation_p.S395N|CPA5_ENST00000431780.2_Missense_Mutation_p.A367T|CPA5_ENST00000466363.2_Missense_Mutation_p.S395N|CPA5_ENST00000474905.1_Missense_Mutation_p.S395N	p.S395N			WXS	Illumina GAIIx	Phase_I	Q8WXQ8	CBPA5_HUMAN			12	2313	+	Melanoma(18;0.0435)		395					G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	ENST00000485477.1	37	c.1184G>A	CCDS5819.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.47|14.47	2.546222|2.546222	0.45383|0.45383	.|.	.|.	ENSG00000158525|ENSG00000158525	ENST00000431780;ENST00000479492|ENST00000355388;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000474905;ENST00000393213	T|T;T;T;T;T;T	0.12774|0.03386	2.65|3.95;3.95;3.95;3.95;3.95;3.95	5.81|5.81	0.429|0.429	0.16506|0.16506	.|Peptidase M14, carboxypeptidase A (2);	.|0.335361	.|0.29480	.|N	.|0.012032	T|T	0.06280|0.06280	0.0162|0.0162	L|L	0.49126|0.49126	1.545|1.545	0.26105|0.26105	N|N	0.980764|0.980764	P|P	0.35272|0.36495	0.493|0.556	B|B	0.30495|0.43018	0.116|0.405	T|T	0.19224|0.19224	-1.0312|-1.0312	8|9	.|.	.|.	.|.	.|.	13.7715|13.7715	0.63029|0.63029	0.0:0.5372:0.3683:0.0945|0.0:0.5372:0.3683:0.0945	.|.	367|395	G3V0G8|Q8WXQ8	.|CBPA5_HUMAN	T|N	367;44|395	ENSP00000393045:A367T|ENSP00000347549:S395N;ENSP00000418183:S395N;ENSP00000419025:S395N;ENSP00000420237:S395N;ENSP00000417314:S395N;ENSP00000376907:S395N	.|.	A|S	+|+	1|2	0|0	CPA5|CPA5	129795547|129795547	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.021000|0.021000	0.10359|0.10359	2.040000|2.040000	0.41203|0.41203	0.065000|0.065000	0.16485|0.16485	-0.181000|-0.181000	0.13052|0.13052	GCT|AGC		0.567	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441		17	151	0	0	0	1	0	17	151				
MUC16	94025	broad.mit.edu	37	19	9089937	9089937	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:9089937T>C	ENST00000397910.4	-	1	2081	c.1878A>G	c.(1876-1878)ctA>ctG	p.L626L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	626	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						CTCTGGTGAGTAGGTGGGTTG	0.577																																						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.(1876-1878)ctA>ctG		mucin 16, cell surface associated							99.0	102.0	101.0					19																	9089937		2195	4292	6487	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089937T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1878A>G	19.37:g.9089937T>C			Somatic					p.L626L	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			1	2081	-			626			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.1878A>G	CCDS54212.1																																																																																				0.577	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	318	0	0	0	1	0	6	318				
ZNF462	58499	broad.mit.edu	37	9	109688351	109688351	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:109688351G>T	ENST00000277225.5	+	3	2447	c.2158G>T	c.(2158-2160)Gtt>Ttt	p.V720F	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.V720F			Q96JM2	ZN462_HUMAN	zinc finger protein 462	720					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGTGATCAATGTTGAGGATGA	0.463																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2158-2160)Gtt>Ttt		zinc finger protein 462							157.0	137.0	144.0					9																	109688351		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109688351G>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.2158G>T	9.37:g.109688351G>T	ENSP00000277225:p.Val720Phe		Somatic				ZNF462_ENST00000457913.1_Missense_Mutation_p.V720F	p.V720F			WXS	Illumina GAIIx	Phase_I	Q96JM2	ZN462_HUMAN			3	2447	+			720					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.2158G>T	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765417	0.49574	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.07908	3.15;3.59	5.87	5.87	0.94306	.	0.062044	0.64402	D	0.000004	T	0.15262	0.0368	N	0.24115	0.695	0.80722	D	1	D;P	0.63880	0.993;0.936	P;P	0.59889	0.865;0.578	T	0.05209	-1.0899	9	.	.	.	.	18.4032	0.90525	0.0:0.0:1.0:0.0	.	720;720	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	F	720	ENSP00000277225:V720F;ENSP00000414570:V720F	.	V	+	1	0	ZNF462	108728172	1.000000	0.71417	0.618000	0.29105	0.990000	0.78478	4.011000	0.57124	2.778000	0.95560	0.650000	0.86243	GTT		0.463	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		53	558	1	0	2.78941e-39	1	4.04504e-39	53	558				
TG	7038	broad.mit.edu	37	8	133923676	133923676	+	Nonsense_Mutation	SNP	C	C	T	rs114157534		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:133923676C>T	ENST00000220616.4	+	19	4097	c.4057C>T	c.(4057-4059)Cag>Tag	p.Q1353*	TG_ENST00000377869.1_Nonsense_Mutation_p.Q1353*	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1353					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTCCTCTGTGCAGGTGGGTTG	0.478																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(4057-4059)Cag>Tag		thyroglobulin							227.0	201.0	210.0					8																	133923676		2203	4300	6503	SO:0001587	stop_gained	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133923676C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4057C>T	8.37:g.133923676C>T	ENSP00000220616:p.Gln1353*		Somatic				TG_ENST00000377869.1_Nonsense_Mutation_p.Q1353*	p.Q1353*	NM_003235.4	NP_003226.4	WXS	Illumina GAIIx	Phase_I	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	19	4097	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1353					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Nonsense_Mutation	SNP	ENST00000220616.4	37	c.4057C>T	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	41	8.885716	0.98990	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616	.	.	.	5.51	3.68	0.42216	.	0.901857	0.09603	N	0.779998	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	8.9932	0.36037	0.1686:0.6692:0.1622:0.0	.	.	.	.	X	1353;159;1353	.	ENSP00000220616:Q1353X	Q	+	1	0	TG	133992858	0.101000	0.21875	0.656000	0.29637	0.292000	0.27327	0.769000	0.26604	0.650000	0.30769	0.557000	0.71058	CAG		0.478	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		5	584	0	0	0	1	0	5	584				
WDR5B	54554	broad.mit.edu	37	3	122133439	122133439	+	Missense_Mutation	SNP	C	C	T	rs199965922		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:122133439C>T	ENST00000330689.4	-	1	1443	c.937G>A	c.(937-939)Gca>Aca	p.A313T	RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000608465.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	313										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		GCTGCTGATGCGATGAGGTTT	0.383																																						ENST00000330689.4																			0				kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13						c.(937-939)Gca>Aca		WD repeat domain 5B							139.0	127.0	131.0					3																	122133439		2203	4300	6503	SO:0001583	missense	54554							g.chr3:122133439C>T	AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"""WD repeat domain containing"""	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.937G>A	3.37:g.122133439C>T	ENSP00000330381:p.Ala313Thr		Somatic					p.A313T	NM_019069.3	NP_061942.2	WXS	Illumina GAIIx	Phase_I	Q86VZ2	WDR5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0704)	1	1443	-			313					B2RCM9|Q9NUL4	Missense_Mutation	SNP	ENST00000330689.4	37	c.937G>A	CCDS3012.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498295	0.85069	.	.	ENSG00000196981	ENST00000330689	T	0.70282	-0.47	4.77	4.77	0.60923	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	0.83792	0.5331	M	0.92604	3.325	0.80722	D	1	D	0.67145	0.996	P	0.53649	0.731	D	0.88285	0.2939	10	0.87932	D	0	.	15.7027	0.77555	0.0:1.0:0.0:0.0	.	313	Q86VZ2	WDR5B_HUMAN	T	313	ENSP00000330381:A313T	ENSP00000330381:A313T	A	-	1	0	WDR5B	123616129	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.838000	0.75359	2.644000	0.89710	0.561000	0.74099	GCA		0.383	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355753.1	NM_019069		7	288	0	0	0	1	0	7	288				
KIAA1211	57482	broad.mit.edu	37	4	57182295	57182295	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:57182295G>T	ENST00000504228.1	+	6	2732	c.2627G>T	c.(2626-2628)gGa>gTa	p.G876V	KIAA1211_ENST00000264229.6_Missense_Mutation_p.G876V|KIAA1211_ENST00000541073.1_Missense_Mutation_p.G869V			Q6ZU35	K1211_HUMAN	KIAA1211	876										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGCAGCACCGGAGACAGCGCG	0.572																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(2626-2628)gGa>gTa		KIAA1211							40.0	49.0	46.0					4																	57182295		2186	4290	6476	SO:0001583	missense	57482							g.chr4:57182295G>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2627G>T	4.37:g.57182295G>T	ENSP00000423366:p.Gly876Val		Somatic				KIAA1211_ENST00000541073.1_Missense_Mutation_p.G869V|KIAA1211_ENST00000264229.6_Missense_Mutation_p.G876V	p.G876V			WXS	Illumina GAIIx	Phase_I	Q6ZU35	K1211_HUMAN			6	2732	+	Glioma(25;0.08)|all_neural(26;0.101)		876					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.2627G>T	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	34	5.298534	0.95574	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.52295	0.68;0.68;0.67	5.5	5.5	0.81552	.	.	.	.	.	T	0.70055	0.3180	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.992;0.992	T	0.72653	-0.4228	9	0.87932	D	0	-36.3178	19.3957	0.94605	0.0:0.0:1.0:0.0	.	869;869;876	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	V	876;876;869;786	ENSP00000264229:G876V;ENSP00000423366:G876V;ENSP00000444006:G869V	ENSP00000264229:G876V	G	+	2	0	KIAA1211	56877052	1.000000	0.71417	0.646000	0.29493	0.413000	0.31143	9.334000	0.96470	2.579000	0.87056	0.561000	0.74099	GGA		0.572	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		5	46	1	0	3.59834e-05	1	4.14379e-05	5	46				
ATG13	9776	broad.mit.edu	37	11	46690111	46690111	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:46690111G>C	ENST00000434074.1	+	14	1904	c.1215G>C	c.(1213-1215)gaG>gaC	p.E405D	ATG13_ENST00000530500.1_Missense_Mutation_p.E289D|ATG13_ENST00000526508.1_Missense_Mutation_p.E405D|ATG13_ENST00000359513.4_Missense_Mutation_p.E405D|ATG13_ENST00000524625.1_Missense_Mutation_p.E368D|ATG13_ENST00000528494.1_Missense_Mutation_p.E438D|ATG13_ENST00000529655.1_Missense_Mutation_p.E368D|ATG13_ENST00000451945.1_Missense_Mutation_p.E368D|ATG13_ENST00000312040.4_Missense_Mutation_p.E405D	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	405					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						TGGAGCTGGAGGATACCGATC	0.517																																						ENST00000434074.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						c.(1213-1215)gaG>gaC		autophagy related 13							155.0	138.0	144.0					11																	46690111		2201	4299	6500	SO:0001583	missense	9776				autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr11:46690111G>C	AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"""KIAA0652"", ""ATG13 autophagy related 13 homolog (S. cerevisiae)"""	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.1215G>C	11.37:g.46690111G>C	ENSP00000400642:p.Glu405Asp		Somatic				ATG13_ENST00000451945.1_Missense_Mutation_p.E368D|ATG13_ENST00000524625.1_Missense_Mutation_p.E368D|ATG13_ENST00000530500.1_Missense_Mutation_p.E289D|ATG13_ENST00000529655.1_Missense_Mutation_p.E368D|ATG13_ENST00000526508.1_Missense_Mutation_p.E405D|ATG13_ENST00000528494.1_Missense_Mutation_p.E438D|ATG13_ENST00000312040.4_Missense_Mutation_p.E405D|ATG13_ENST00000359513.4_Missense_Mutation_p.E405D	p.E405D	NM_001205120.1	NP_001192049.1	WXS	Illumina GAIIx	Phase_I	O75143	ATG13_HUMAN			14	1904	+			405					B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Missense_Mutation	SNP	ENST00000434074.1	37	c.1215G>C	CCDS44582.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564799	0.45694	.	.	ENSG00000175224	ENST00000395549;ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494;ENST00000525009	.	.	.	5.75	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.65512	0.2698	L	0.53249	1.67	0.49798	D	0.999824	D;D;D;D	0.76494	0.999;0.998;0.998;0.997	D;D;D;D	0.77557	0.911;0.986;0.99;0.99	T	0.60647	-0.7222	9	0.18276	T	0.48	-14.5707	8.6173	0.33840	0.2874:0.0:0.7126:0.0	.	289;405;438;368	B4DFI4;O75143;E9PQZ8;O75143-2	.;ATG13_HUMAN;.;.	D	368;405;405;368;368;289;405;368;405;438;137	.	ENSP00000310321:E405D	E	+	3	2	ATG13	46646687	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.373000	0.44266	0.770000	0.33336	0.655000	0.94253	GAG		0.517	ATG13-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390300.2	NM_014741		122	93	0	0	0	1	0	122	93				
KIF23	9493	broad.mit.edu	37	15	69733351	69733351	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:69733351C>A	ENST00000260363.4	+	18	2429	c.2312C>A	c.(2311-2313)aCt>aAt	p.T771N	KIF23_ENST00000558585.1_Intron|KIF23_ENST00000352331.4_Intron|KIF23_ENST00000537891.1_Intron|KIF23_ENST00000559279.1_Intron|KIF23_ENST00000395392.2_Missense_Mutation_p.T771N	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	771					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						ATGTACTGGACTGAAGGCAGG	0.468																																						ENST00000260363.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						c.(2311-2313)aCt>aAt		kinesin family member 23							114.0	88.0	97.0					15																	69733351		2199	4298	6497	SO:0001583	missense	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69733351C>A	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.2312C>A	15.37:g.69733351C>A	ENSP00000260363:p.Thr771Asn		Somatic				KIF23_ENST00000558585.1_Intron|KIF23_ENST00000395392.2_Missense_Mutation_p.T771N|KIF23_ENST00000537891.1_Intron|KIF23_ENST00000559279.1_Intron|KIF23_ENST00000352331.4_Intron	p.T771N	NM_138555.2	NP_612565.1	WXS	Illumina GAIIx	Phase_I	Q02241	KIF23_HUMAN			18	2429	+			771					Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	c.2312C>A	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.302850	0.23736	.	.	ENSG00000137807	ENST00000260363;ENST00000395392	T;T	0.74737	-0.87;-0.86	5.21	3.28	0.37604	.	0.537613	0.18664	N	0.134636	T	0.48259	0.1490	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31806	-0.9930	10	0.14656	T	0.56	.	6.2717	0.20959	0.1382:0.6531:0.1337:0.075	.	771	Q02241	KIF23_HUMAN	N	771	ENSP00000260363:T771N;ENSP00000378790:T771N	ENSP00000260363:T771N	T	+	2	0	KIF23	67520405	0.987000	0.35691	1.000000	0.80357	0.996000	0.88848	0.947000	0.29082	1.315000	0.45114	0.555000	0.69702	ACT		0.468	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding				12	477	1	0	1.62849e-17	1	2.22226e-17	12	477				
A2M	2	broad.mit.edu	37	12	9224978	9224978	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:9224978G>T	ENST00000318602.7	-	31	4387	c.4080C>A	c.(4078-4080)agC>agA	p.S1360R		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1360					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	AGATTTGGAAGCTGGTGTGGG	0.438																																						ENST00000318602.7																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(4078-4080)agC>agA		alpha-2-macroglobulin	Bacitracin(DB00626)|Becaplermin(DB00102)						140.0	141.0	141.0					12																	9224978		2029	4233	6262	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9224978G>T	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.4080C>A	12.37:g.9224978G>T	ENSP00000323929:p.Ser1360Arg		Somatic					p.S1360R	NM_000014.4	NP_000005.2	WXS	Illumina GAIIx	Phase_I	P01023	A2MG_HUMAN			31	4387	-			1360					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.4080C>A	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074654	0.36566	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.29917	1.55	5.99	4.15	0.48705	Alpha-macroglobulin, receptor-binding (2);	0.889884	0.10096	N	0.716532	T	0.30572	0.0769	M	0.67625	2.065	0.31865	N	0.620469	B	0.29378	0.243	B	0.22601	0.04	T	0.28235	-1.0050	10	0.48119	T	0.1	.	8.0333	0.30478	0.1234:0.1428:0.7338:0.0	.	1360	P01023	A2MG_HUMAN	R	1360;1375	ENSP00000323929:S1360R	ENSP00000323929:S1360R	S	-	3	2	A2M	9116245	0.996000	0.38824	1.000000	0.80357	0.779000	0.44077	0.920000	0.28705	2.840000	0.97914	0.655000	0.94253	AGC		0.438	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		10	446	1	0	5.50884e-06	1	6.58215e-06	10	446				
SIRPB2	284759	broad.mit.edu	37	20	1460483	1460483	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:1460483G>A	ENST00000359801.3	-	2	349	c.313C>T	c.(313-315)Cca>Tca	p.P105S	SIRPB2_ENST00000444444.2_Intron|SIRPB2_ENST00000608747.1_Intron|SIRPB2_ENST00000537284.1_Intron	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	98	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAATTCAGTGGTTCTGATGTC	0.453																																						ENST00000359801.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(313-315)Cca>Tca		signal-regulatory protein beta 2							142.0	126.0	131.0					20																	1460483		1568	3582	5150	SO:0001583	missense	284759					integral to membrane		g.chr20:1460483G>A	AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16247	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type 1-like"", ""protein tyrosine phosphatase, non-receptor type substrate 1-like 3"""	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.313C>T	20.37:g.1460483G>A	ENSP00000352849:p.Pro105Ser		Somatic				SIRPB2_ENST00000381630.1_Intron|SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000537284.1_Intron	p.P105S	NM_001122962.1	NP_001116434.1	WXS	Illumina GAIIx	Phase_I	Q5JXA9	SIRB2_HUMAN			2	349	-			105			Ig-like V-type 1.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000359801.3	37	c.313C>T	CCDS42849.1	.	.	.	.	.	.	.	.	.	.	G	0.093	-1.163380	0.01673	.	.	ENSG00000196209	ENST00000359801	T	0.66638	-0.22	4.13	2.04	0.26737	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.084330	0.07281	N	0.870786	T	0.54127	0.1839	L	0.47716	1.5	0.09310	N	0.999999	B	0.31769	0.339	B	0.30646	0.118	T	0.35895	-0.9770	10	0.10902	T	0.67	-28.0729	5.9314	0.19140	0.2597:0.0:0.7403:0.0	.	105	Q5JXA9	SIRB2_HUMAN	S	105	ENSP00000352849:P105S	ENSP00000352849:P105S	P	-	1	0	SIRPB2	1408483	0.004000	0.15560	0.011000	0.14972	0.874000	0.50279	0.710000	0.25748	0.473000	0.27368	0.655000	0.94253	CCA		0.453	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1	NM_178459		5	423	0	0	0	1	0	5	423				
CEP104	9731	broad.mit.edu	37	1	3756191	3756191	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:3756191G>A	ENST00000378230.3	-	7	1040	c.716C>T	c.(715-717)gCc>gTc	p.A239V	CEP104_ENST00000460038.1_5'Flank	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	239						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						ATCAGCAATGGCTTGTTTTAG	0.353																																						ENST00000378230.3																			0				breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						c.(715-717)gCc>gTc		centrosomal protein 104kDa							172.0	168.0	169.0					1																	3756191		2203	4300	6503	SO:0001583	missense	9731					centriole	binding	g.chr1:3756191G>A	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.716C>T	1.37:g.3756191G>A	ENSP00000367476:p.Ala239Val		Somatic					p.A239V	NM_014704.3	NP_055519.1	WXS	Illumina GAIIx	Phase_I	O60308	CE104_HUMAN			7	1040	-			239					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	c.716C>T	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852400	0.91355	.	.	ENSG00000116198	ENST00000378230;ENST00000428079	T	0.37235	1.21	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.59252	0.2180	M	0.68593	2.085	0.80722	D	1	D;D	0.71674	0.998;0.972	D;P	0.72338	0.977;0.87	T	0.62402	-0.6862	10	0.62326	D	0.03	.	17.4113	0.87486	0.0:0.0:1.0:0.0	.	239;239	O60308-3;O60308	.;CE104_HUMAN	V	239;181	ENSP00000367476:A239V	ENSP00000367476:A239V	A	-	2	0	CEP104	3746051	1.000000	0.71417	0.859000	0.33776	0.956000	0.61745	9.259000	0.95561	2.346000	0.79739	0.561000	0.74099	GCC		0.353	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		5	222	0	0	0	1	0	5	222				
PDE4D	5144	broad.mit.edu	37	5	59064302	59064302	+	Intron	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:59064302C>G	ENST00000340635.6	-	1	631				PDE4D_ENST00000507116.1_Missense_Mutation_p.V12L|PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000502575.1_Missense_Mutation_p.V12L|PDE4D_ENST00000546160.1_Intron	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific						adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	ACTTCAGGTACTGTTAAAGTG	0.517																																						ENST00000507116.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(34-36)Gta>Cta		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						252.0	235.0	240.0					5																	59064302		876	1991	2867	SO:0001627	intron_variant	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:59064302C>G		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.455+124692G>C	5.37:g.59064302C>G			Somatic				PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000502575.1_Missense_Mutation_p.V12L|PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000340635.6_Intron	p.V12L	NM_001197218.1	NP_001184147.1	WXS	Illumina GAIIx	Phase_I	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	1	169	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	0					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	c.34G>C	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489925	0.64074	.	.	ENSG00000113448	ENST00000507116;ENST00000502575	T;D	0.82984	-0.4;-1.67	5.36	5.36	0.76844	.	.	.	.	.	D	0.88299	0.6399	.	.	.	0.80722	D	1	P;P	0.47910	0.902;0.902	P;P	0.61722	0.893;0.893	D	0.83892	0.0285	8	0.19147	T	0.46	.	18.9003	0.92440	0.0:1.0:0.0:0.0	.	12;12	Q08499-12;Q08499-6	.;.	L	12	ENSP00000424852:V12L;ENSP00000425917:V12L	ENSP00000308485:V12L	V	-	1	0	PDE4D	59100059	1.000000	0.71417	0.293000	0.24932	0.798000	0.45092	5.559000	0.67326	2.783000	0.95769	0.655000	0.94253	GTA		0.517	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			4	311	0	0	0	1	0	4	311				
NAB2	4665	broad.mit.edu	37	12	57484919	57484919	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:57484919G>A	ENST00000300131.3	+	2	473	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	NAB2_ENST00000357680.4_Missense_Mutation_p.R32Q|NAB2_ENST00000554718.1_Intron|NAB2_ENST00000342556.6_Missense_Mutation_p.R32Q	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	32					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CCCAGTGCCCGAGCCATGGCA	0.607																																						ENST00000300131.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(94-96)cGa>cAa		NGFI-A binding protein 2 (EGR1 binding protein 2)							43.0	45.0	44.0					12																	57484919		2202	4300	6502	SO:0001583	missense	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57484919G>A	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.95G>A	12.37:g.57484919G>A	ENSP00000300131:p.Arg32Gln		Somatic				NAB2_ENST00000357680.4_Missense_Mutation_p.R32Q|NAB2_ENST00000342556.6_Missense_Mutation_p.R32Q|NAB2_ENST00000554718.1_Intron	p.R32Q	NM_005967.3	NP_005958.1	WXS	Illumina GAIIx	Phase_I	Q15742	NAB2_HUMAN			2	473	+			32					B2RAK3|O76006|Q14797	Missense_Mutation	SNP	ENST00000300131.3	37	c.95G>A	CCDS8930.1	.	.	.	.	.	.	.	.	.	.	G	9.956	1.221497	0.22457	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	.	.	.	4.49	0.00621	0.14066	Nab, N-terminal (1);	1.392950	0.05199	N	0.504555	T	0.17831	0.0428	N	0.08118	0	0.23776	N	0.996873	B	0.19331	0.035	B	0.12837	0.008	T	0.20371	-1.0277	9	0.24483	T	0.36	2.73	5.0007	0.14262	0.1941:0.393:0.4129:0.0	.	32	Q15742	NAB2_HUMAN	Q	32	.	ENSP00000300131:R32Q	R	+	2	0	NAB2	55771186	0.756000	0.28383	0.989000	0.46669	0.984000	0.73092	0.110000	0.15437	0.107000	0.17824	0.655000	0.94253	CGA		0.607	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		3	73	0	0	0	1	0	3	73				
RAB39B	116442	broad.mit.edu	37	X	154490408	154490408	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:154490408T>G	ENST00000369454.3	-	2	622	c.322A>C	c.(322-324)Aaa>Caa	p.K108Q		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	108					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|synapse organization (GO:0050808)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACGTGTACTTTGGTCTCTTCT	0.493																																						ENST00000369454.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19						c.(322-324)Aaa>Caa		RAB39B, member RAS oncogene family							191.0	178.0	182.0					X																	154490408		2203	4300	6503	SO:0001583	missense	116442				protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	g.chrX:154490408T>G	AY052478	CCDS14766.1	Xq28	2014-01-31			ENSG00000155961	ENSG00000155961		"""RAB, member RAS oncogene"""	16499	protein-coding gene	gene with protein product		300774	"""mental retardation, X-linked 72"""	MRX72		12438742, 20159109	Standard	NM_171998		Approved		uc004fne.3	Q96DA2	OTTHUMG00000022659	ENST00000369454.3:c.322A>C	X.37:g.154490408T>G	ENSP00000358466:p.Lys108Gln		Somatic					p.K108Q	NM_171998.2	NP_741995.1	WXS	Illumina GAIIx	Phase_I	Q96DA2	RB39B_HUMAN			2	622	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		108					Q5JT79|Q8NEX3	Missense_Mutation	SNP	ENST00000369454.3	37	c.322A>C	CCDS14766.1	.	.	.	.	.	.	.	.	.	.	T	10.59	1.393552	0.25205	.	.	ENSG00000155961	ENST00000369454	T	0.79940	-1.32	4.6	4.6	0.57074	Small GTP-binding protein domain (1);	0.136415	0.46145	D	0.000307	T	0.68559	0.3014	N	0.17901	0.54	0.36574	D	0.873174	B	0.16396	0.017	B	0.21708	0.036	T	0.70572	-0.4835	10	0.54805	T	0.06	.	11.3756	0.49726	0.0:0.0:0.0:1.0	.	108	Q96DA2	RB39B_HUMAN	Q	108	ENSP00000358466:K108Q	ENSP00000358466:K108Q	K	-	1	0	RAB39B	154143602	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	3.521000	0.53472	1.761000	0.52028	0.417000	0.27973	AAA		0.493	RAB39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058792.1	NM_171998		4	305	0	0	0	1	0	4	305				
SETDB1	9869	broad.mit.edu	37	1	150916465	150916465	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:150916465G>A	ENST00000271640.5	+	8	1135	c.945G>A	c.(943-945)cgG>cgA	p.R315R	SETDB1_ENST00000368962.2_Silent_p.R315R|SETDB1_ENST00000368969.4_Silent_p.R315R|SETDB1_ENST00000368963.1_Missense_Mutation_p.G248D|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	315	Tudor 1.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	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;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCATTTGCCGGCCACGTGAGT	0.413																																						ENST00000368963.1																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(742-744)gGc>gAc		SET domain, bifurcated 1							201.0	178.0	186.0					1																	150916465		2203	4300	6503	SO:0001819	synonymous_variant	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150916465G>A	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.945G>A	1.37:g.150916465G>A			Somatic				SETDB1_ENST00000368962.2_Silent_p.R315R|SETDB1_ENST00000368969.4_Silent_p.R315R|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000271640.5_Silent_p.R315R	p.248_248insD			WXS	Illumina GAIIx	Phase_I	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		7	848	+	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)		0					A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.743G>A	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	G	2.169	-0.390286	0.04932	.	.	ENSG00000143379	ENST00000368963	.	.	.	5.17	0.971	0.19698	.	.	.	.	.	T	0.34221	0.0890	.	.	.	0.29384	N	0.863094	.	.	.	.	.	.	T	0.25328	-1.0135	5	0.87932	D	0	.	10.2691	0.43473	0.3179:0.0:0.6821:0.0	.	.	.	.	D	248	.	ENSP00000357959:G248D	G	+	2	0	SETDB1	149183089	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	1.390000	0.34464	0.347000	0.23924	-0.384000	0.06662	GGC		0.413	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			4	111	0	0	0	1	0	4	111				
TRPC4AP	26133	broad.mit.edu	37	20	33590973	33590973	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:33590973T>C	ENST00000252015.2	-	19	2459	c.2370A>G	c.(2368-2370)atA>atG	p.I790M	TRPC4AP_ENST00000432634.2_Missense_Mutation_p.I751M|TRPC4AP_ENST00000539834.1_Missense_Mutation_p.I392M|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.I782M			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	790					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGTCCCTGTCTATGTCCATGT	0.597																																						ENST00000252015.2																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(2368-2370)atA>atG		transient receptor potential cation channel, subfamily C, member 4 associated protein							103.0	85.0	91.0					20																	33590973		2203	4300	6503	SO:0001583	missense	26133				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	g.chr20:33590973T>C	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.2370A>G	20.37:g.33590973T>C	ENSP00000252015:p.Ile790Met		Somatic				TRPC4AP_ENST00000539834.1_Missense_Mutation_p.I392M|TRPC4AP_ENST00000451813.1_Missense_Mutation_p.I782M|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.I751M	p.I790M			WXS	Illumina GAIIx	Phase_I	Q8TEL6	TP4AP_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		19	2459	-			790					E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	c.2370A>G	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	T	13.29	2.191914	0.38707	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000539834;ENST00000432634;ENST00000541994	.	.	.	4.79	3.63	0.41609	.	0.179546	0.51477	D	0.000089	T	0.26484	0.0647	N	0.22421	0.69	0.43126	D	0.994858	P;P;P	0.40476	0.531;0.718;0.531	B;B;B	0.33690	0.168;0.168;0.168	T	0.13710	-1.0499	9	0.87932	D	0	.	4.7969	0.13277	0.2771:0.0905:0.0:0.6324	.	751;782;790	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	M	790;782;392;751;775	.	ENSP00000252015:I790M	I	-	3	3	TRPC4AP	33054634	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.466000	0.35310	1.997000	0.58415	0.460000	0.39030	ATA		0.597	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		3	117	0	0	0	1	0	3	117				
DNAH9	1770	broad.mit.edu	37	17	11701058	11701058	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:11701058G>T	ENST00000262442.4	+	43	8436	c.8368G>T	c.(8368-8370)Gaa>Taa	p.E2790*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.E2790*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2790	AAA 4. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAACCACAATGAAGTCAACAC	0.483																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(8368-8370)Gaa>Taa		dynein, axonemal, heavy chain 9							219.0	162.0	181.0					17																	11701058		2203	4300	6503	SO:0001587	stop_gained	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11701058G>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8368G>T	17.37:g.11701058G>T	ENSP00000262442:p.Glu2790*		Somatic				DNAH9_ENST00000454412.2_Nonsense_Mutation_p.E2790*	p.E2790*	NM_001372.3	NP_001363.2	WXS	Illumina GAIIx	Phase_I	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	43	8436	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2790			AAA 4 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Nonsense_Mutation	SNP	ENST00000262442.4	37	c.8368G>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	50	16.680918	0.99869	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	.	.	.	5.68	4.7	0.59300	.	0.191740	0.44688	D	0.000425	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.0102	0.71545	0.0688:0.0:0.9312:0.0	.	.	.	.	X	2790;2790;1372	.	ENSP00000262442:E2790X	E	+	1	0	DNAH9	11641783	1.000000	0.71417	0.938000	0.37757	0.878000	0.50629	6.644000	0.74338	1.388000	0.46506	0.650000	0.86243	GAA		0.483	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		6	202	1	0	1.06961e-07	1	1.31824e-07	6	202				
DCDC1	341019	broad.mit.edu	37	11	30974117	30974117	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:30974117T>A	ENST00000597505.1	-	19	2591		c.e19-2		DCDC1_ENST00000406071.2_Splice_Site|DCDC1_ENST00000437348.1_Intron|DCDC1_ENST00000339794.5_Splice_Site			P59894	DCDC1_HUMAN	doublecortin domain containing 1						intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ATGGCCCACCTAAAACAAAAG	0.333																																						ENST00000597505.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.e19-2		doublecortin domain containing 1							99.0	83.0	88.0					11																	30974117		1812	4070	5882	SO:0001630	splice_region_variant	341019				intracellular signal transduction			g.chr11:30974117T>A	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.2592-2A>T	11.37:g.30974117T>A			Somatic				DCDC1_ENST00000437348.1_Intron|DCDC1_ENST00000406071.2_Splice_Site|DCDC1_ENST00000339794.5_Splice_Site				WXS	Illumina GAIIx	Phase_I	P59894	DCDC1_HUMAN			19	2591	-	Lung SC(675;0.225)							A6PVL6|B7WNX6|Q6ZU04	Splice_Site	SNP	ENST00000597505.1	37																																																																																						0.333	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807	Intron	3	15	0	0	0	1	0	3	15				
HOOK2	29911	broad.mit.edu	37	19	12883471	12883471	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:12883471G>A	ENST00000397668.3	-	6	485	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L	HOOK2_ENST00000264827.5_Silent_p.L138L|HOOK2_ENST00000589965.1_Intron	NM_013312.2	NP_037444.2	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	138	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	centrosome (GO:0005813)|FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GATTCTTCCAGCGTCATGATT	0.572																																						ENST00000264827.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						c.(412-414)Ctg>Ttg		hook microtubule-tethering protein 2							189.0	178.0	181.0					19																	12883471		1963	4147	6110	SO:0001819	synonymous_variant	29911				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	g.chr19:12883471G>A	AF044924	CCDS42507.1, CCDS42508.1	19p13.2	2013-08-21	2013-08-21						19885	protein-coding gene	gene with protein product		607824	"""hook homolog 2 (Drosophila)"""			9927460	Standard	NM_013312		Approved	HK2	uc002muy.2	Q96ED9		ENST00000397668.3:c.412C>T	19.37:g.12883471G>A			Somatic				HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Silent_p.L138L	p.L138L	NM_001100176.1	NP_001093646.1	WXS	Illumina GAIIx	Phase_I	Q96ED9	HOOK2_HUMAN			6	582	-			138			Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules.		O60562	Silent	SNP	ENST00000397668.3	37	c.412C>T	CCDS42508.1																																																																																				0.572	HOOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451008.1	NM_013312		5	742	0	0	0	1	0	5	742				
RBM43	375287	broad.mit.edu	37	2	152112258	152112258	+	Splice_Site	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:152112258C>A	ENST00000331426.5	-	2	155		c.e2-1			NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43								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)		AAACTGATGCCTGTAAGAGAA	0.358																																						ENST00000331426.5																			0				endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8						c.e2-1		RNA binding motif protein 43							62.0	58.0	60.0					2																	152112258		2203	4300	6503	SO:0001630	splice_region_variant	375287						nucleotide binding|RNA binding	g.chr2:152112258C>A	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.4-1G>T	2.37:g.152112258C>A			Somatic						NM_198557.2	NP_940959.1	WXS	Illumina GAIIx	Phase_I	Q6ZSC3	RBM43_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	2	155	-								B2RMT5	Splice_Site	SNP	ENST00000331426.5	37		CCDS2191.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016776	0.54576	.	.	ENSG00000184898	ENST00000331426	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8223	0.57700	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RBM43	151820504	1.000000	0.71417	0.999000	0.59377	0.837000	0.47467	3.865000	0.56033	2.419000	0.82065	0.313000	0.20887	.		0.358	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254816.2	NM_198557	Intron	6	58	1	0	0.0215528	1	0.022713	6	58				
TSR1	55720	broad.mit.edu	37	17	2227510	2227510	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:2227510G>A	ENST00000301364.5	-	15	3474	c.2395C>T	c.(2395-2397)Cct>Tct	p.P799S	SRR_ENST00000344595.5_3'UTR	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	799					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						CCCCCTTGAGGCACTGTTGAA	0.463																																						ENST00000301364.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(2395-2397)Cct>Tct		TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)							163.0	153.0	156.0					17																	2227510		2203	4300	6503	SO:0001583	missense	55720				ribosome assembly	nucleolus	protein binding	g.chr17:2227510G>A	AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"""TSR1, 20S rRNA accumulation, homolog (yeast)"""			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.2395C>T	17.37:g.2227510G>A	ENSP00000301364:p.Pro799Ser		Somatic				SRR_ENST00000344595.5_3'UTR	p.P799S	NM_018128.4	NP_060598.3	WXS	Illumina GAIIx	Phase_I	Q2NL82	TSR1_HUMAN			15	3474	-			799					Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP	ENST00000301364.5	37	c.2395C>T	CCDS32525.1	.	.	.	.	.	.	.	.	.	.	G	1.588	-0.529871	0.04112	.	.	ENSG00000167721	ENST00000301364	T	0.10477	2.87	4.92	2.91	0.33838	.	0.425292	0.26931	N	0.021769	T	0.04407	0.0121	N	0.08118	0	0.22112	N	0.999351	B	0.02656	0.0	B	0.04013	0.001	T	0.45145	-0.9281	10	0.09084	T	0.74	-1.2774	7.9169	0.29822	0.1923:0.0:0.8077:0.0	.	799	Q2NL82	TSR1_HUMAN	S	799	ENSP00000301364:P799S	ENSP00000301364:P799S	P	-	1	0	TSR1	2174260	0.991000	0.36638	0.306000	0.25113	0.005000	0.04900	3.737000	0.55060	0.477000	0.27464	-0.136000	0.14681	CCT		0.463	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128		5	822	0	0	0	1	0	5	822				
IGKV1OR2-118	339562	broad.mit.edu	37	2	90458628	90458628	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:90458628G>T	ENST00000603238.1	+	2	304	c.304G>T	c.(304-306)Gat>Tat	p.D102Y																								GCAGCCTGAAGATTTTGCAAC	0.507																																						ENST00000603238.1																			0											c.(304-306)Gat>Tat																																						SO:0001583	missense	339562							g.chr2:90458628G>T																												ENST00000603238.1:c.304G>T	2.37:g.90458628G>T	ENSP00000474044:p.Asp102Tyr		Somatic					p.102_102insY			WXS	Illumina GAIIx	Phase_I					2	304	+									Missense_Mutation	SNP	ENST00000603238.1	37	c.304G>T																																																																																					0.507	CH17-132F21.1-001	PUTATIVE	not_best_in_genome_evidence|mRNA_end_NF|cds_end_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468882.1			10	1062	1	0	0.000219431	1	0.000249309	10	1062				
ETV4	2118	broad.mit.edu	37	17	41606987	41606987	+	Missense_Mutation	SNP	C	C	T	rs148198572		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:41606987C>T	ENST00000319349.5	-	11	1311	c.1013G>A	c.(1012-1014)cGg>cAg	p.R338Q	ETV4_ENST00000586826.1_Missense_Mutation_p.R61Q|ETV4_ENST00000591713.1_Missense_Mutation_p.R338Q|ETV4_ENST00000545954.1_Missense_Mutation_p.R299Q|ETV4_ENST00000538265.1_Missense_Mutation_p.R299Q|ETV4_ENST00000393664.2_Missense_Mutation_p.R338Q|ETV4_ENST00000545089.1_Missense_Mutation_p.R284Q	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	338					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|motor neuron axon guidance (GO:0008045)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)	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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		CAGGGCACCCCGGCGCTGGTA	0.582			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""																																Esophageal Squamous(116;1540 1611 12927 31103 34118)	ENST00000319349.5				Dom	yes		17	17q21	2118	T	"""ets variant gene 4 (E1A enhancer binding protein, E1AF)"""			"""M, E"""	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""		"""Ewing sarcoma, Prostate carcinoma"""	EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1012-1014)cGg>cAg		ets variant 4		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	61.0	65.0	64.0		1013,1013	5.2	1.0	17	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ETV4	NM_001079675.1,NM_001986.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	338/485,338/485	41606987	1,13005	2203	4300	6503	SO:0001583	missense	2118				positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:41606987C>T	U18018	CCDS11465.1, CCDS58553.1, CCDS59292.1	17q21	2014-04-30	2008-09-12			ENSG00000175832			3493	protein-coding gene	gene with protein product	"""E1A enhancer binding protein"""	600711	"""ets variant gene 4 (E1A enhancer-binding protein, E1AF)"""			8530053, 1547944	Standard	NM_001986		Approved	E1A-F, E1AF, PEA3	uc002idw.3	P43268		ENST00000319349.5:c.1013G>A	17.37:g.41606987C>T	ENSP00000321835:p.Arg338Gln		Somatic				ETV4_ENST00000545954.1_Missense_Mutation_p.R299Q|ETV4_ENST00000591713.1_Missense_Mutation_p.R338Q|ETV4_ENST00000545089.1_Missense_Mutation_p.R284Q|ETV4_ENST00000586826.1_Missense_Mutation_p.R61Q|ETV4_ENST00000393664.2_Missense_Mutation_p.R338Q|ETV4_ENST00000538265.1_Missense_Mutation_p.R299Q	p.R338Q	NM_001079675.2	NP_001073143.1	WXS	Illumina GAIIx	Phase_I	P43268	ETV4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0798)	11	1311	-		Breast(137;0.00908)	338					A8K314|B7Z5J3|B7Z9J6|Q96AW9	Missense_Mutation	SNP	ENST00000319349.5	37	c.1013G>A	CCDS11465.1	.	.	.	.	.	.	.	.	.	.	C	34	5.388755	0.95988	0.0	1.16E-4	ENSG00000175832	ENST00000319349;ENST00000393664;ENST00000538265;ENST00000545954;ENST00000545089	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	6.17	5.21	0.72293	Winged helix-turn-helix transcription repressor DNA-binding (1);PEA3-type ETS-domain transcription factor, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58595	0.2133	M	0.81112	2.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.988;0.991;0.991	T	0.65170	-0.6233	10	0.72032	D	0.01	.	15.7894	0.78343	0.0:0.935:0.0:0.065	.	284;299;338	B7Z5F4;B7Z5J3;P43268	.;.;ETV4_HUMAN	Q	338;338;299;299;284	ENSP00000321835:R338Q;ENSP00000377273:R338Q;ENSP00000443846:R299Q;ENSP00000440023:R299Q;ENSP00000441749:R284Q	ENSP00000321835:R338Q	R	-	2	0	ETV4	38962513	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	7.776000	0.85560	1.626000	0.50381	0.655000	0.94253	CGG		0.582	ETV4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453489.1	NM_001986		3	60	0	0	0	1	0	3	60				
PSG2	5670	broad.mit.edu	37	19	43579536	43579536	+	Missense_Mutation	SNP	G	G	A	rs529547477		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:43579536G>A	ENST00000406487.1	-	3	777	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	227	Ig-like C2-type 1.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.R227C(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGGTCACTGCGGCTGGCACTC	0.527																																						ENST00000406487.1																			1	Substitution - Missense(1)	p.R227C(1)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49						c.(679-681)Cgc>Tgc		pregnancy specific beta-1-glycoprotein 2							221.0	233.0	229.0					19																	43579536		2202	4299	6501	SO:0001583	missense	5670				cell migration|female pregnancy	extracellular region		g.chr19:43579536G>A		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.679C>T	19.37:g.43579536G>A	ENSP00000385706:p.Arg227Cys		Somatic					p.R227C	NM_031246.3	NP_112536.2	WXS	Illumina GAIIx	Phase_I	P11465	PSG2_HUMAN			3	777	-		Prostate(69;0.00682)	227			Ig-like C2-type 1.		Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	c.679C>T	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	N	11.11	1.543254	0.27563	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.12774	2.65	1.33	-0.184	0.13280	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.31544	0.0800	M	0.80616	2.505	0.09310	N	1	P;D	0.89917	0.934;1.0	P;D	0.75484	0.712;0.986	T	0.08973	-1.0696	9	0.87932	D	0	.	3.9393	0.09319	0.0:0.0:0.5847:0.4153	.	227;227	B5MCM8;P11465	.;PSG2_HUMAN	C	227	ENSP00000385706:R227C	ENSP00000332984:R227C	R	-	1	0	PSG2	48271376	0.000000	0.05858	0.007000	0.13788	0.074000	0.17049	-0.263000	0.08670	0.703000	0.31848	0.454000	0.30748	CGC		0.527	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		8	427	0	0	0	1	0	8	427				
KIAA1143	57456	broad.mit.edu	37	3	44794950	44794950	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:44794950T>C	ENST00000296121.4	-	3	407	c.348A>G	c.(346-348)tcA>tcG	p.S116S	KIAA1143_ENST00000484437.1_5'UTR	NM_020696.3	NP_065747.1	Q96AT1	K1143_HUMAN	KIAA1143	116										NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		TCTTCTTTTTTGAGCTTGCTG	0.373																																						ENST00000296121.4																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5						c.(346-348)tcA>tcG		KIAA1143							77.0	80.0	79.0					3																	44794950		2203	4297	6500	SO:0001819	synonymous_variant	57456							g.chr3:44794950T>C	AB032969	CCDS2721.1	3p21.31	2005-08-15			ENSG00000163807	ENSG00000163807			29198	protein-coding gene	gene with protein product						10574461	Standard	NM_020696		Approved		uc011bac.2	Q96AT1	OTTHUMG00000133088	ENST00000296121.4:c.348A>G	3.37:g.44794950T>C			Somatic				KIAA1143_ENST00000484437.1_5'UTR	p.S116S	NM_020696.3	NP_065747.1	WXS	Illumina GAIIx	Phase_I	Q96AT1	K1143_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)	3	407	-			116					A8K0I4|Q96HJ8|Q9ULS7	Silent	SNP	ENST00000296121.4	37	c.348A>G	CCDS2721.1																																																																																				0.373	KIAA1143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256746.1	NM_020696		4	143	0	0	0	1	0	4	143				
GPATCH3	63906	broad.mit.edu	37	1	27215502	27215502	+	IGR	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:27215502G>T	ENST00000361720.5	-	0	2123				GPN2_ENST00000461282.1_5'Flank|GPN2_ENST00000374133.3_5'Flank|GPN2_ENST00000374135.4_Missense_Mutation_p.L176I	NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3								nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		TTGGAAAGGAGGTTGATGTGG	0.537																																						ENST00000374135.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(526-528)Ctc>Atc		GPN-loop GTPase 2							262.0	241.0	248.0					1																	27215502		2203	4300	6503	SO:0001628	intergenic_variant	54707						GTP binding	g.chr1:27215502G>T	BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229		1.37:g.27215502G>T			Somatic					p.L176I	NM_018066.3	NP_060536.3	WXS	Illumina GAIIx	Phase_I	Q9H9Y4	GPN2_HUMAN			2	726	-			176					Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	ENST00000361720.5	37	c.526C>A	CCDS290.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398302	0.42512	.	.	ENSG00000142751	ENST00000374135;ENST00000374131;ENST00000431781	T	0.17370	2.28	5.0	0.127	0.14727	.	0.617306	0.15590	N	0.254437	T	0.05960	0.0155	N	0.01219	-0.95	0.80722	D	1	B	0.02656	0.0	B	0.11329	0.006	T	0.31138	-0.9954	10	0.31617	T	0.26	-22.1378	12.5476	0.56208	0.0:0.5253:0.3631:0.1116	.	176	Q9H9Y4	GPN2_HUMAN	I	176;105;105	ENSP00000363250:L176I	ENSP00000363246:L105I	L	-	1	0	GPN2	27088089	0.989000	0.36119	0.998000	0.56505	0.987000	0.75469	0.257000	0.18369	0.129000	0.18514	0.561000	0.74099	CTC		0.537	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	NM_022078		4	276	1	0	1.23904e-05	1	1.45652e-05	4	276				
DPT	1805	broad.mit.edu	37	1	168698204	168698204	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:168698204T>C	ENST00000367817.3	-	1	298	c.209A>G	c.(208-210)gAc>gGc	p.D70G		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	70	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CCATTGTCTGTCAGAACCTTC	0.582																																						ENST00000367817.3																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12						c.(208-210)gAc>gGc		dermatopontin							175.0	134.0	148.0					1																	168698204		2203	4300	6503	SO:0001583	missense	1805				cell adhesion	extracellular space|proteinaceous extracellular matrix		g.chr1:168698204T>C	BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.209A>G	1.37:g.168698204T>C	ENSP00000356791:p.Asp70Gly		Somatic					p.D70G	NM_001937.4	NP_001928.2	WXS	Illumina GAIIx	Phase_I	Q07507	DERM_HUMAN			1	298	-	all_hematologic(923;0.208)		70			2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].		A8K981|Q8N4R2|Q9UIX8	Missense_Mutation	SNP	ENST00000367817.3	37	c.209A>G	CCDS1275.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.488980	0.84962	.	.	ENSG00000143196	ENST00000367817	T	0.69435	-0.4	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.66703	0.2816	M	0.69823	2.125	0.51482	D	0.999922	P	0.50156	0.932	P	0.50970	0.655	T	0.74844	-0.3526	9	0.87932	D	0	-4.3308	14.3688	0.66826	0.0:0.0:0.0:1.0	.	70	Q07507	DERM_HUMAN	G	70	ENSP00000356791:D70G	ENSP00000356791:D70G	D	-	2	0	DPT	166964828	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.581000	0.82535	1.859000	0.53934	0.533000	0.62120	GAC		0.582	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083618.1	NM_001937		4	90	0	0	0	1	0	4	90				
DLC1	10395	broad.mit.edu	37	8	13251191	13251191	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:13251191T>C	ENST00000276297.4	-	4	1594	c.1185A>G	c.(1183-1185)tcA>tcG	p.S395S	DLC1_ENST00000316609.5_Silent_p.S395S|DLC1_ENST00000511869.1_Silent_p.S395S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	395					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTTCAGATCCTGATTCCAGAT	0.428																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(1183-1185)tcA>tcG		deleted in liver cancer 1							127.0	119.0	122.0					8																	13251191		2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13251191T>C	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1185A>G	8.37:g.13251191T>C			Somatic				DLC1_ENST00000316609.5_Silent_p.S395S|DLC1_ENST00000511869.1_Silent_p.S395S	p.S395S	NM_182643.2	NP_872584.2	WXS	Illumina GAIIx	Phase_I	Q96QB1	RHG07_HUMAN			4	1594	-			395					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.1185A>G	CCDS5989.1																																																																																				0.428	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		8	310	0	0	0	1	0	8	310				
MUC17	140453	broad.mit.edu	37	7	100678590	100678590	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:100678590T>C	ENST00000306151.4	+	3	3957	c.3893T>C	c.(3892-3894)cTt>cCt	p.L1298P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1298	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCTAGCACCCTTTTAACAACT	0.478																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(3892-3894)cTt>cCt		mucin 17, cell surface associated							258.0	246.0	250.0					7																	100678590		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678590T>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3893T>C	7.37:g.100678590T>C	ENSP00000302716:p.Leu1298Pro		Somatic					p.L1298P	NM_001040105.1	NP_001035194.1	WXS	Illumina GAIIx	Phase_I	Q685J3	MUC17_HUMAN			3	3957	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1298			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.3893T>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	t	0.132	-1.111896	0.01813	.	.	ENSG00000169876	ENST00000306151	T	0.03212	4.01	0.471	-0.686	0.11324	.	.	.	.	.	T	0.01730	0.0055	N	0.19112	0.55	0.09310	N	1	P	0.42993	0.797	B	0.28709	0.093	T	0.48525	-0.9028	8	0.29301	T	0.29	.	.	.	.	.	1298	Q685J3	MUC17_HUMAN	P	1298	ENSP00000302716:L1298P	ENSP00000302716:L1298P	L	+	2	0	MUC17	100465310	0.000000	0.05858	0.002000	0.10522	0.044000	0.14063	-1.367000	0.02583	-0.288000	0.09051	0.113000	0.15668	CTT		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		4	174	0	0	0	1	0	4	174				
TBC1D20	128637	broad.mit.edu	37	20	419442	419442	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:419442G>T	ENST00000354200.4	-	8	1147	c.1000C>A	c.(1000-1002)Cag>Aag	p.Q334K	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	334					acrosome assembly (GO:0001675)|cargo loading into COPII-coated vesicle (GO:0090110)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|lens fiber cell morphogenesis (GO:0070309)|lipid particle organization (GO:0034389)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|seminiferous tubule development (GO:0072520)|virion assembly (GO:0019068)	endoplasmic reticulum membrane (GO:0005789)|integral component of Golgi membrane (GO:0030173)|nuclear membrane (GO:0031965)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				GGCCTCTGCTGGGCTGATGCC	0.547																																						ENST00000354200.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1000-1002)Cag>Aag		TBC1 domain family, member 20							64.0	69.0	68.0					20																	419442		2203	4300	6503	SO:0001583	missense	128637				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity	g.chr20:419442G>T	AK055573	CCDS13002.1	20p13	2013-07-10	2005-01-05	2005-01-05	ENSG00000125875	ENSG00000125875			16133	protein-coding gene	gene with protein product		611663	"""chromosome 20 open reading frame 140"""	C20orf140		17901050	Standard	XM_005260661		Approved	dJ852M4.2	uc002wds.3	Q96BZ9	OTTHUMG00000031637	ENST00000354200.4:c.1000C>A	20.37:g.419442G>T	ENSP00000346139:p.Gln334Lys		Somatic				TBC1D20_ENST00000461188.1_5'UTR	p.Q334K	NM_144628.2	NP_653229.1	WXS	Illumina GAIIx	Phase_I	Q96BZ9	TBC20_HUMAN			8	1147	-		all_epithelial(17;0.228)|Breast(17;0.231)	334					A8K6I3|B9A6M1|Q5JWQ7|Q6ZSY8|Q96NE1|Q9BYM7|Q9H140	Missense_Mutation	SNP	ENST00000354200.4	37	c.1000C>A	CCDS13002.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529219	0.64860	.	.	ENSG00000125875	ENST00000354200;ENST00000246077	T	0.32023	1.47	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.28665	0.0710	L	0.56769	1.78	0.80722	D	1	P	0.36990	0.577	B	0.28011	0.085	T	0.11179	-1.0598	10	0.10111	T	0.7	-26.7701	19.6321	0.95713	0.0:0.0:1.0:0.0	.	334	Q96BZ9	TBC20_HUMAN	K	334;359	ENSP00000346139:Q334K	ENSP00000246077:Q359K	Q	-	1	0	TBC1D20	367442	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.810000	0.86072	2.884000	0.98904	0.655000	0.94253	CAG		0.547	TBC1D20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251397.2	NM_144628		6	105	1	0	0.000157383	1	0.000179615	6	105				
SCN1A	6323	broad.mit.edu	37	2	166900434	166900434	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:166900434G>T	ENST00000303395.4	-	11	1787	c.1788C>A	c.(1786-1788)agC>agA	p.S596R	SCN1A_ENST00000375405.3_Missense_Mutation_p.S596R|SCN1A_ENST00000423058.2_Missense_Mutation_p.S596R|SCN1A_ENST00000409050.1_Missense_Mutation_p.S596R|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	596					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCTCAAAGGTGCTGTGCTCAT	0.507																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(1786-1788)agC>agA		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						169.0	149.0	156.0					2																	166900434		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166900434G>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1788C>A	2.37:g.166900434G>T	ENSP00000303540:p.Ser596Arg		Somatic				AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.S596R|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.S596R|SCN1A_ENST00000409050.1_Missense_Mutation_p.S596R|AC010127.3_ENST00000599041.1_RNA	p.S596R	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	WXS	Illumina GAIIx	Phase_I	P35498	SCN1A_HUMAN			11	1805	-			596					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.1788C>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012799	0.54468	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.94232	-3.38;-3.38;-3.38;-3.38	5.37	3.59	0.41128	Domain of unknown function DUF3451 (1);	0.064498	0.64402	D	0.000003	D	0.96562	0.8878	M	0.92555	3.32	0.54753	D	0.999989	D;D;P	0.65815	0.983;0.995;0.899	P;P;P	0.58820	0.731;0.846;0.824	D	0.96290	0.9213	10	0.87932	D	0	.	11.948	0.52938	0.1414:0.0:0.8586:0.0	.	596;596;596	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	R	596	ENSP00000407030:S596R;ENSP00000303540:S596R;ENSP00000364554:S596R;ENSP00000386312:S596R	ENSP00000303540:S596R	S	-	3	2	SCN1A	166608680	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	4.114000	0.57858	0.653000	0.30826	-0.224000	0.12420	AGC		0.507	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		54	417	1	0	1.27862e-28	1	1.80282e-28	54	417				
MMP2	4313	broad.mit.edu	37	16	55527162	55527162	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:55527162G>A	ENST00000219070.4	+	9	1938	c.1429G>A	c.(1429-1431)Ggc>Agc	p.G477S	MMP2_ENST00000570308.1_Missense_Mutation_p.G401S|MMP2_ENST00000437642.2_Missense_Mutation_p.G427S|MMP2_ENST00000543485.1_Missense_Mutation_p.G401S	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	477	Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	TGTATTTGATGGCATCGCTCA	0.567																																						ENST00000219070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1429-1431)Ggc>Agc		matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	Marimastat(DB00786)|Sulindac(DB00605)						209.0	187.0	195.0					16																	55527162		2198	4300	6498	SO:0001583	missense	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55527162G>A		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1429G>A	16.37:g.55527162G>A	ENSP00000219070:p.Gly477Ser		Somatic				MMP2_ENST00000543485.1_Missense_Mutation_p.G401S|MMP2_ENST00000570308.1_Missense_Mutation_p.G401S|MMP2_ENST00000437642.2_Missense_Mutation_p.G427S	p.G477S	NM_004530.4	NP_004521.1	WXS	Illumina GAIIx	Phase_I	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	9	1938	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	477			Hemopexin-like 1.|Required for inhibitor TIMP2 binding.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	c.1429G>A	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	G	34	5.400160	0.96030	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.02446	4.29;4.29;4.29	5.18	5.18	0.71444	Hemopexin/matrixin (2);	0.049735	0.85682	D	0.000000	T	0.07593	0.0191	L	0.43923	1.385	0.58432	D	0.999994	B;P	0.45348	0.108;0.856	B;P	0.50791	0.077;0.65	T	0.22556	-1.0213	10	0.48119	T	0.1	.	18.6835	0.91556	0.0:0.0:1.0:0.0	.	427;477	E9PE45;P08253	.;MMP2_HUMAN	S	477;401;427	ENSP00000219070:G477S;ENSP00000444143:G401S;ENSP00000394237:G427S	ENSP00000219070:G477S	G	+	1	0	MMP2	54084663	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.994000	0.88315	2.425000	0.82216	0.563000	0.77884	GGC		0.567	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			7	490	0	0	0	1	0	7	490				
PARP3	10039	broad.mit.edu	37	3	51980200	51980200	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:51980200C>T	ENST00000417220.2	+	10	1605	c.1117C>T	c.(1117-1119)Cac>Tac	p.H373Y	PARP3_ENST00000431474.1_Missense_Mutation_p.H373Y|PARP3_ENST00000398755.3_Missense_Mutation_p.H380Y			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	373	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATTCCAGGCCCACTCCAAACT	0.587																																						ENST00000417220.2																			0				ovary(1)	1						c.(1117-1119)Cac>Tac		poly (ADP-ribose) polymerase family, member 3							81.0	83.0	82.0					3																	51980200		2098	4212	6310	SO:0001583	missense	10039				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:51980200C>T	AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	273	protein-coding gene	gene with protein product	"""poly(ADP-ribose) synthetase-3"", ""NAD+ ADP-ribosyltransferase 3"", ""poly(ADP-ribose) polymerase 3"""	607726	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"""	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.1117C>T	3.37:g.51980200C>T	ENSP00000395951:p.His373Tyr		Somatic				PARP3_ENST00000398755.3_Missense_Mutation_p.H380Y|PARP3_ENST00000431474.1_Missense_Mutation_p.H373Y	p.H373Y			WXS	Illumina GAIIx	Phase_I	Q9Y6F1	PARP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	10	1605	+			373			PARP catalytic.		Q8NER9|Q96CG2|Q9UG81	Missense_Mutation	SNP	ENST00000417220.2	37	c.1117C>T	CCDS43097.1	.	.	.	.	.	.	.	.	.	.	c	11.16	1.558374	0.27827	.	.	ENSG00000041880	ENST00000417220;ENST00000431474;ENST00000398755	T;T;T	0.14266	2.52;2.52;2.52	5.36	3.59	0.41128	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.141055	0.64402	N	0.000006	T	0.12305	0.0299	L	0.42245	1.32	0.37913	D	0.931438	B;B	0.29627	0.109;0.252	B;B	0.30029	0.023;0.11	T	0.12553	-1.0543	10	0.21014	T	0.42	-26.157	11.9927	0.53184	0.0:0.8594:0.0:0.1406	.	380;373	Q9Y6F1-2;Q9Y6F1	.;PARP3_HUMAN	Y	373;373;380	ENSP00000395951:H373Y;ENSP00000401511:H373Y;ENSP00000381740:H380Y	ENSP00000381740:H380Y	H	+	1	0	PARP3	51955240	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	1.647000	0.37260	0.660000	0.30964	-0.974000	0.02594	CAC		0.587	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348612.2	NM_005485.4		14	142	0	0	0	1	0	14	142				
PCDH11X	27328	broad.mit.edu	37	X	91131958	91131958	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:91131958C>A	ENST00000373094.1	+	2	1564	c.719C>A	c.(718-720)aCt>aAt	p.T240N	PCDH11X_ENST00000395337.2_Missense_Mutation_p.T240N|PCDH11X_ENST00000504220.2_Missense_Mutation_p.T240N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.T240N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T240N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.T240N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.T240N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.T240N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.T240N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	240	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GTGAGTGTTACTGATACAAAT	0.428																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(718-720)aCt>aAt		protocadherin 11 X-linked							221.0	191.0	201.0					X																	91131958		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91131958C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.719C>A	X.37:g.91131958C>A	ENSP00000362186:p.Thr240Asn		Somatic				PCDH11X_ENST00000373088.1_Missense_Mutation_p.T240N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.T240N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.T240N|PCDH11X_ENST00000504220.1_Missense_Mutation_p.T240N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T240N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.T240N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.T240N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.T240N	p.T240N	NM_032968.3	NP_116750.1	WXS	Illumina GAIIx	Phase_I	Q9BZA7	PC11X_HUMAN			2	1564	+			240			Cadherin 2.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.719C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465415	0.43839	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62	4.63	3.53	0.40419	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.305128	0.35378	N	0.003244	T	0.57946	0.2088	M	0.81802	2.56	0.34216	D	0.674878	P;P;P;P;P;P;P;B	0.40602	0.609;0.723;0.609;0.609;0.609;0.661;0.609;0.38	B;P;B;B;B;B;B;B	0.47528	0.197;0.549;0.258;0.258;0.258;0.375;0.197;0.197	T	0.74553	-0.3627	10	0.72032	D	0.01	.	11.7744	0.51977	0.0:0.8913:0.0:0.1087	.	240;240;240;240;240;240;240;240	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	N	240	ENSP00000378746:T240N;ENSP00000362186:T240N;ENSP00000362189:T240N;ENSP00000355040:T240N;ENSP00000362180:T240N;ENSP00000423762:T240N;ENSP00000355105:T240N;ENSP00000384758:T240N;ENSP00000298274:T240N	ENSP00000298274:T240N	T	+	2	0	PCDH11X	91018614	1.000000	0.71417	0.998000	0.56505	0.839000	0.47603	5.790000	0.69038	1.870000	0.54199	0.544000	0.68410	ACT		0.428	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		4	164	1	0	0.00909568	1	0.0097673	4	164				
PRDM9	56979	broad.mit.edu	37	5	23509581	23509581	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:23509581C>A	ENST00000296682.3	+	3	254	c.72C>A	c.(70-72)gtC>gtA	p.V24V		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	24	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCCTCTAGGTCAAAGATGCCT	0.453										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(70-72)gtC>gtA		PR domain containing 9							177.0	168.0	171.0					5																	23509581		1868	4109	5977	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23509581C>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.72C>A	5.37:g.23509581C>A		HNSCC(3;0.000094)	Somatic					p.V24V	NM_020227.2	NP_064612.2	WXS	Illumina GAIIx	Phase_I	Q9NQV7	PRDM9_HUMAN			3	254	+			24			KRAB-related.		B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.72C>A	CCDS43307.1																																																																																				0.453	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		5	770	1	0	0.27861	1	0.281934	5	770				
PEX7	5191	broad.mit.edu	37	6	137191043	137191043	+	Missense_Mutation	SNP	G	G	A	rs121909152		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:137191043G>A	ENST00000318471.4	+	7	730	c.649G>A	c.(649-651)Ggg>Agg	p.G217R	PEX7_ENST00000541292.1_Missense_Mutation_p.G217R	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	217			G -> R (in RCDP1; unknown pathological significance). {ECO:0000269|PubMed:9090381}.		endochondral ossification (GO:0001958)|ether lipid biosynthetic process (GO:0008611)|fatty acid beta-oxidation (GO:0006635)|neuron migration (GO:0001764)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-2 binding (GO:0005053)|protein homodimerization activity (GO:0042803)	p.G217W(1)		lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		GCTGGTGACCGGGGCGGTTGA	0.413																																						ENST00000541292.1																			1	Substitution - Missense(1)	p.G217W(1)	lung(1)	lung(7)|prostate(1)	8	GRCh37	CM971145	PEX7	M	rs121909152	c.(649-651)Ggg>Agg		peroxisomal biogenesis factor 7		G	ARG/GLY	0,4406		0,0,2203	227.0	232.0	230.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	649	5.0	0.2	6	dbSNP_133	230	1,8599	1.2+/-3.3	0,1,4299	no	missense	PEX7	NM_000288.3	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	217/324	137191043	1,13005	2203	4300	6503	SO:0001583	missense	5191				ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding	g.chr6:137191043G>A	AF180814	CCDS5180.1	6q21-q22.2	2013-01-10			ENSG00000112357	ENSG00000112357		"""WD repeat domain containing"""	8860	protein-coding gene	gene with protein product	"""Refsum disease"""	601757				9090381, 10673331	Standard	NM_000288		Approved	PTS2R, RD	uc003qhd.3	O00628	OTTHUMG00000015650	ENST00000318471.4:c.649G>A	6.37:g.137191043G>A	ENSP00000315680:p.Gly217Arg		Somatic				PEX7_ENST00000318471.4_Missense_Mutation_p.G217R	p.G217R			WXS	Illumina GAIIx	Phase_I	O00628	PEX7_HUMAN		GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)	7	735	+	Colorectal(23;0.24)		217		G -> R (in RCDP1; could be a polymorphism).			C0H5X6	Missense_Mutation	SNP	ENST00000318471.4	37	c.649G>A	CCDS5180.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907422	0.72868	0.0	1.16E-4	ENSG00000112357	ENST00000541292;ENST00000318471	T;T	0.72051	-0.62;-0.62	5.84	4.98	0.66077	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.094233	0.64402	D	0.000001	D	0.84911	0.5577	M	0.93720	3.45	0.58432	A	0.999995	D	0.89917	1.0	D	0.77557	0.99	D	0.89626	0.3852	9	0.87932	D	0	-26.9256	13.9923	0.64374	0.0741:0.0:0.9259:0.0	rs61753246	217	O00628	PEX7_HUMAN	R	217	ENSP00000441004:G217R;ENSP00000315680:G217R	ENSP00000315680:G217R	G	+	1	0	PEX7	137232736	1.000000	0.71417	0.189000	0.23252	0.865000	0.49528	7.095000	0.76952	1.466000	0.48025	0.591000	0.81541	GGG		0.413	PEX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042387.2	NM_000288		6	170	0	0	0	1	0	6	170				
DNAH11	8701	broad.mit.edu	37	7	21901549	21901549	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:21901549A>G	ENST00000409508.3	+	69	11312	c.11281A>G	c.(11281-11283)Atg>Gtg	p.M3761V	DNAH11_ENST00000328843.6_Missense_Mutation_p.M3768V	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3768					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTCTATCCTGATGGAGAGCAT	0.517									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(11302-11304)Atg>Gtg		dynein, axonemal, heavy chain 11							72.0	74.0	73.0					7																	21901549		2054	4219	6273	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21901549A>G	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.11281A>G	7.37:g.21901549A>G	ENSP00000475939:p.Met3761Val		Somatic				DNAH11_ENST00000409508.3_Missense_Mutation_p.M3761V	p.M3768V			WXS	Illumina GAIIx	Phase_I	Q96DT5	DYH11_HUMAN			70	11333	+			3768					Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.11302A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.357|4.357	0.065754|0.065754	0.08388|0.08388	.|.	.|.	ENSG00000105877|ENSG00000105877	ENST00000421290|ENST00000328843	.|T	.|0.49432	.|0.78	5.74|5.74	3.07|3.07	0.35406|0.35406	.|.	.|0.531595	.|0.23612	.|N	.|0.046328	T|T	0.27349|0.27349	0.0671|0.0671	.|.	.|.	.|.	0.20926|0.20926	N|N	0.999829|0.999829	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.19321|0.19321	-1.0309|-1.0309	4|9	.|0.12430	.|T	.|0.62	.|.	9.9648|9.9648	0.41719|0.41719	0.8485:0.0:0.1515:0.0|0.8485:0.0:0.1515:0.0	.|.	.|3768	.|Q96DT5	.|DYH11_HUMAN	G|V	155|3768	.|ENSP00000330671:M3768V	.|ENSP00000330671:M3768V	D|M	+|+	2|1	0|0	DNAH11|DNAH11	21868074|21868074	0.993000|0.993000	0.37304|0.37304	0.005000|0.005000	0.12908|0.12908	0.013000|0.013000	0.08279|0.08279	5.156000|5.156000	0.64905|0.64905	0.331000|0.331000	0.23511|0.23511	0.533000|0.533000	0.62120|0.62120	GAT|ATG		0.517	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		7	456	0	0	0	1	0	7	456				
ATE1	11101	broad.mit.edu	37	10	123503319	123503319	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:123503319G>A	ENST00000224652.6	-	12	1518	c.1433C>T	c.(1432-1434)gCc>gTc	p.A478V	ATE1_ENST00000540606.1_Missense_Mutation_p.A471V|ATE1_ENST00000535655.1_Missense_Mutation_p.A179V|ATE1_ENST00000543447.1_Missense_Mutation_p.A363V|ATE1_ENST00000369043.3_Missense_Mutation_p.A478V|ATE1_ENST00000369040.3_Missense_Mutation_p.A382V	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	478					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				AGGCATGATGGCTCTCTTGTG	0.478																																						ENST00000369043.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1432-1434)gCc>gTc		arginyltransferase 1							125.0	110.0	115.0					10																	123503319		2203	4300	6503	SO:0001583	missense	11101				protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	g.chr10:123503319G>A	AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.1433C>T	10.37:g.123503319G>A	ENSP00000224652:p.Ala478Val		Somatic				ATE1_ENST00000543447.1_Missense_Mutation_p.A363V|ATE1_ENST00000540606.1_Missense_Mutation_p.A471V|ATE1_ENST00000369040.3_Missense_Mutation_p.A382V|ATE1_ENST00000535655.1_Missense_Mutation_p.A179V|ATE1_ENST00000224652.6_Missense_Mutation_p.A478V	p.A478V	NM_007041.2	NP_008972.2	WXS	Illumina GAIIx	Phase_I	O95260	ATE1_HUMAN			12	1519	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	478					O95261|Q5SQQ3|Q8WW04	Missense_Mutation	SNP	ENST00000224652.6	37	c.1433C>T	CCDS31300.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032591	0.54790	.	.	ENSG00000107669	ENST00000369043;ENST00000535655;ENST00000224652;ENST00000369040;ENST00000540606;ENST00000543447	.	.	.	5.02	4.12	0.48240	.	0.497594	0.19951	N	0.102430	T	0.20820	0.0501	N	0.04508	-0.205	0.27333	N	0.956729	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.001;0.002;0.003	T	0.13282	-1.0515	9	0.28530	T	0.3	-4.8109	10.6755	0.45783	0.0904:0.0:0.9096:0.0	.	471;382;478;478	F5GXE4;B4E107;O95260;O95260-2	.;.;ATE1_HUMAN;.	V	478;179;478;382;471;363	.	ENSP00000224652:A478V	A	-	2	0	ATE1	123493309	1.000000	0.71417	0.836000	0.33094	0.995000	0.86356	3.823000	0.55715	1.130000	0.42092	0.655000	0.94253	GCC		0.478	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976		4	421	0	0	0	1	0	4	421				
ITGB7	3695	broad.mit.edu	37	12	53589220	53589220	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:53589220C>A	ENST00000267082.5	-	9	1330	c.1099G>T	c.(1099-1101)Gca>Tca	p.A367S	ITGB7_ENST00000422257.3_Missense_Mutation_p.A367S|ITGB7_ENST00000550743.2_Missense_Mutation_p.A367S|ITGB7_ENST00000338737.4_Missense_Mutation_p.A367S	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	367	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCCCAACTGCAGACTTAGGA	0.542																																						ENST00000267082.5																			0				NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1099-1101)Gca>Tca		integrin, beta 7							97.0	89.0	92.0					12																	53589220		2203	4300	6503	SO:0001583	missense	3695				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity	g.chr12:53589220C>A		CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"""Integrins"""	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.1099G>T	12.37:g.53589220C>A	ENSP00000267082:p.Ala367Ser		Somatic				ITGB7_ENST00000338737.4_Missense_Mutation_p.A367S|ITGB7_ENST00000550743.2_Missense_Mutation_p.A367S|ITGB7_ENST00000422257.3_Missense_Mutation_p.A367S	p.A367S	NM_000889.1	NP_000880.1	WXS	Illumina GAIIx	Phase_I	P26010	ITB7_HUMAN			9	1330	-			367			VWFA.		Q9UCP7|Q9UCS7	Missense_Mutation	SNP	ENST00000267082.5	37	c.1099G>T	CCDS8849.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355239	0.61293	.	.	ENSG00000139626	ENST00000422257;ENST00000267082;ENST00000338737;ENST00000542497	D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02	4.21	3.27	0.37495	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.169929	0.28527	N	0.015024	D	0.86744	0.6006	N	0.26092	0.79	0.48452	D	0.999653	P	0.40398	0.716	P	0.45610	0.487	T	0.81519	-0.0896	10	0.13853	T	0.58	.	9.9805	0.41811	0.0:0.8878:0.0:0.1122	.	367	P26010	ITB7_HUMAN	S	367	ENSP00000408741:A367S;ENSP00000267082:A367S;ENSP00000345501:A367S;ENSP00000437375:A367S	ENSP00000267082:A367S	A	-	1	0	ITGB7	51875487	0.955000	0.32602	0.937000	0.37676	0.823000	0.46562	5.883000	0.69721	1.267000	0.44247	0.563000	0.77884	GCA		0.542	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2			11	549	1	0	0.0931896	1	0.097001	11	549				
PNPLA6	10908	broad.mit.edu	37	19	7619529	7619529	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:7619529C>T	ENST00000221249.6	+	24	2871	c.2440C>T	c.(2440-2442)Ccc>Tcc	p.P814S	PNPLA6_ENST00000414982.3_Missense_Mutation_p.P862S|PNPLA6_ENST00000600737.1_Missense_Mutation_p.P852S|PNPLA6_ENST00000545201.2_Missense_Mutation_p.P787S|PNPLA6_ENST00000450331.3_Missense_Mutation_p.P814S	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	853					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CTCGCTGACGCCCTGGACCGT	0.667																																						ENST00000221249.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(2440-2442)Ccc>Tcc		patatin-like phospholipase domain containing 6							81.0	72.0	75.0					19																	7619529		2203	4300	6503	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7619529C>T	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.2440C>T	19.37:g.7619529C>T	ENSP00000221249:p.Pro814Ser		Somatic				PNPLA6_ENST00000414982.3_Missense_Mutation_p.P862S|PNPLA6_ENST00000450331.3_Missense_Mutation_p.P814S|PNPLA6_ENST00000600737.1_Missense_Mutation_p.P852S|PNPLA6_ENST00000545201.2_Missense_Mutation_p.P787S	p.P814S	NM_006702.4	NP_006693.3	WXS	Illumina GAIIx	Phase_I	Q8IY17	PLPL6_HUMAN			24	2871	+			853					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.2440C>T	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	c	18.41	3.618080	0.66787	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	4.98	4.98	0.66077	.	0.111909	0.64402	D	0.000006	T	0.50137	0.1598	L	0.41961	1.31	0.58432	D	0.999999	D;D;D;P	0.69078	0.995;0.997;0.997;0.729	P;D;D;B	0.67231	0.893;0.95;0.95;0.444	T	0.36986	-0.9725	10	0.36615	T	0.2	-23.6347	15.8384	0.78818	0.0:1.0:0.0:0.0	.	853;787;852;814	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	S	814;787;862;814	ENSP00000221249:P814S;ENSP00000443323:P787S;ENSP00000407509:P862S;ENSP00000394348:P814S	ENSP00000221249:P814S	P	+	1	0	PNPLA6	7525529	1.000000	0.71417	1.000000	0.80357	0.085000	0.17905	5.879000	0.69690	2.591000	0.87537	0.555000	0.69702	CCC		0.667	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		6	242	0	0	0	1	0	6	242				
ALB	213	broad.mit.edu	37	4	74279236	74279236	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:74279236G>A	ENST00000503124.1	+	6	700	c.493G>A	c.(493-495)Gcc>Acc	p.A165T	ALB_ENST00000401494.3_Missense_Mutation_p.A200T|ALB_ENST00000295897.4_Missense_Mutation_p.A315T|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Missense_Mutation_p.A123T|ALB_ENST00000509063.1_Missense_Mutation_p.A315T			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCACTGCATTGCCGAAGTGGA	0.423																																						ENST00000295897.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48						c.(943-945)Gcc>Acc		albumin	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						143.0	135.0	138.0					4																	74279236		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74279236G>A	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.493G>A	4.37:g.74279236G>A	ENSP00000421027:p.Ala165Thr		Somatic				ALB_ENST00000401494.3_Missense_Mutation_p.A200T|ALB_ENST00000503124.1_Missense_Mutation_p.A165T|ALB_ENST00000509063.1_Missense_Mutation_p.A315T|ALB_ENST00000415165.2_Missense_Mutation_p.A123T|ALB_ENST00000505649.1_3'UTR	p.A315T	NM_000477.5	NP_000468.1	WXS	Illumina GAIIx	Phase_I	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		8	1032	+	Breast(15;0.00102)		315			Albumin 2.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37	c.943G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.64|12.64	1.999325|1.999325	0.35226|0.35226	.|.	.|.	ENSG00000163631|ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202|ENST00000511370	T;T;T;T;T|.	0.72942|.	-0.7;-0.7;-0.7;-0.7;-0.7|.	5.98|5.98	-6.65|-6.65	0.01795|0.01795	Serum albumin-like (1);Serum albumin, N-terminal (3);|.	1.761250|.	0.02783|.	N|.	0.121199|.	T|T	0.40570|0.40570	0.1122|0.1122	M|M	0.76838|0.76838	2.35|2.35	0.09310|0.09310	N|N	1|1	P;B;B;B;B|.	0.35908|.	0.527;0.024;0.065;0.033;0.03|.	B;B;B;B;B|.	0.38985|.	0.287;0.022;0.023;0.008;0.015|.	T|T	0.37753|0.37753	-0.9692|-0.9692	10|5	0.59425|.	D|.	0.04|.	4.8203|4.8203	2.0435|2.0435	0.03555|0.03555	0.1546:0.2362:0.2081:0.4011|0.1546:0.2362:0.2081:0.4011	.|.	200;123;165;315;315|.	B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768|.	.;.;.;.;ALBU_HUMAN|.	T|Y	315;123;165;315;200;324|159	ENSP00000295897:A315T;ENSP00000401820:A123T;ENSP00000421027:A165T;ENSP00000422784:A315T;ENSP00000384695:A200T|.	ENSP00000295897:A315T|.	A|C	+|+	1|2	0|0	ALB|ALB	74498100|74498100	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-5.606000|-5.606000	0.00110|0.00110	-2.168000|-2.168000	0.00778|0.00778	-0.188000|-0.188000	0.12872|0.12872	GCC|TGC		0.423	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477		7	182	0	0	0	1	0	7	182				
CD1E	913	broad.mit.edu	37	1	158324168	158324168	+	Splice_Site	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:158324168T>C	ENST00000368167.3	+	2	299	c.60T>C	c.(58-60)gcT>gcC	p.A20A	CD1E_ENST00000434258.1_Splice_Site_p.A18A|CD1E_ENST00000368163.3_Splice_Site_p.A20A|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368161.3_Splice_Site_p.A20A|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368160.3_Splice_Site_p.A20A|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368155.3_Splice_Site_p.A20A|CD1E_ENST00000368156.1_Splice_Site_p.A20A|CD1E_ENST00000368165.3_Splice_Site_p.A20A|CD1E_ENST00000368157.1_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	20					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CTCTCTCAGCTCCCCAGGCTC	0.498																																						ENST00000368160.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49						c.e2-1		CD1e molecule							145.0	145.0	145.0					1																	158324168		2045	4215	6260	SO:0001630	splice_region_variant	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158324168T>C	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.59-1T>C	1.37:g.158324168T>C			Somatic				CD1E_ENST00000434258.1_Splice_Site_p.A18_splice|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368165.3_Splice_Site_p.A20_splice|CD1E_ENST00000368155.3_Splice_Site_p.A20_splice|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368156.1_Splice_Site_p.A20_splice|CD1E_ENST00000368163.3_Splice_Site_p.A20_splice|CD1E_ENST00000368161.3_Splice_Site_p.A20_splice|CD1E_ENST00000368167.3_Splice_Site_p.A20_splice|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000452291.2_Intron	p.A20_splice	NM_001042583.2	NP_001036048.1	WXS	Illumina GAIIx	Phase_I	P15812	CD1E_HUMAN			2	60	+	all_hematologic(112;0.0378)		20					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Splice_Site	SNP	ENST00000368167.3	37	c.58_splice	CCDS41417.1																																																																																				0.498	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893	Silent	7	538	0	0	0	1	0	7	538				
MUC16	94025	broad.mit.edu	37	19	9028258	9028258	+	Silent	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:9028258G>T	ENST00000397910.4	-	11	36737	c.36534C>A	c.(36532-36534)ccC>ccA	p.P12178P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12180	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						CCAGGGTGTAGGGGCCCAGCT	0.562																																						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.(36532-36534)ccC>ccA		mucin 16, cell surface associated							228.0	223.0	225.0					19																	9028258		2050	4194	6244	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9028258G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36534C>A	19.37:g.9028258G>T			Somatic					p.P12178P	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			11	36737	-			12180			SEA 1.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.36534C>A	CCDS54212.1																																																																																				0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	984	1	0	0.00909568	1	0.0097673	7	984				
MEFV	4210	broad.mit.edu	37	16	3304364	3304364	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:3304364G>A	ENST00000219596.1	-	2	743	c.704C>T	c.(703-705)tCg>tTg	p.S235L	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000541159.1_Intron|MEFV_ENST00000339854.4_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	235					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CATCTTTCCCGAGGGCAGGTA	0.627																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(703-705)tCg>tTg		Mediterranean fever	Colchicine(DB01394)						65.0	73.0	70.0					16																	3304364		2197	4300	6497	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3304364G>A	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.704C>T	16.37:g.3304364G>A	ENSP00000219596:p.Ser235Leu		Somatic				MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron	p.S235L	NM_000243.2	NP_000234.1	WXS	Illumina GAIIx	Phase_I	O15553	MEFV_HUMAN			2	743	-			235					D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.704C>T	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.185592	0.38609	.	.	ENSG00000103313	ENST00000545159;ENST00000219596	T	0.66815	-0.23	4.75	4.75	0.60458	.	0.558035	0.15267	N	0.271448	T	0.49304	0.1549	L	0.29908	0.895	0.80722	D	1	B	0.34329	0.449	B	0.26614	0.071	T	0.44787	-0.9305	10	0.09843	T	0.71	-23.4025	13.9861	0.64337	0.0:0.0:1.0:0.0	.	235	O15553	MEFV_HUMAN	L	235	ENSP00000219596:S235L	ENSP00000219596:S235L	S	-	2	0	MEFV	3244365	0.333000	0.24731	0.371000	0.25978	0.019000	0.09904	3.516000	0.53436	2.585000	0.87301	0.655000	0.94253	TCG		0.627	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		12	1018	0	0	0	1	0	12	1018				
SMC2	10592	broad.mit.edu	37	9	106857698	106857698	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:106857698C>A	ENST00000286398.7	+	2	321	c.33C>A	c.(31-33)ttC>ttA	p.F11L	SMC2_ENST00000303219.8_Missense_Mutation_p.F11L|SMC2_ENST00000374793.3_Missense_Mutation_p.F11L|RP11-82L2.1_ENST00000603487.1_lincRNA|SMC2_ENST00000374787.3_Missense_Mutation_p.F11L	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	11					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TAGAGGGATTCAAGTCCTATG	0.433																																						ENST00000286398.7																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(31-33)ttC>ttA		structural maintenance of chromosomes 2							116.0	105.0	109.0					9																	106857698		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106857698C>A	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.33C>A	9.37:g.106857698C>A	ENSP00000286398:p.Phe11Leu		Somatic				SMC2_ENST00000303219.8_Missense_Mutation_p.F11L|SMC2_ENST00000374787.3_Missense_Mutation_p.F11L|SMC2_ENST00000374793.3_Missense_Mutation_p.F11L	p.F11L	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	WXS	Illumina GAIIx	Phase_I	O95347	SMC2_HUMAN			2	321	+			11					Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.33C>A	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339466	0.81911	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000536893;ENST00000374787	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.0	0.709	0.18150	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.87752	0.6256	M	0.91972	3.26	0.53005	D	0.999964	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.86101	0.1556	10	0.87932	D	0	-10.0243	7.8985	0.29721	0.0:0.5345:0.0:0.4655	.	11;11;11	A8K984;O95347;Q2KQ72	.;SMC2_HUMAN;.	L	11	ENSP00000286398:F11L;ENSP00000363925:F11L;ENSP00000306152:F11L;ENSP00000363919:F11L	ENSP00000286398:F11L	F	+	3	2	SMC2	105897519	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.807000	0.27140	0.268000	0.21939	0.655000	0.94253	TTC		0.433	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1			4	171	1	0	0.014758	1	0.0156823	4	171				
MBD4	8930	broad.mit.edu	37	3	129152054	129152054	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:129152054T>A	ENST00000249910.1	-	6	1623	c.1448A>T	c.(1447-1449)gAg>gTg	p.E483V	MBD4_ENST00000507208.1_Missense_Mutation_p.E483V|MBD4_ENST00000429544.2_Missense_Mutation_p.E477V|MBD4_ENST00000509587.1_5'Flank|MBD4_ENST00000393278.2_Missense_Mutation_p.E165V|MBD4_ENST00000503197.1_Missense_Mutation_p.E483V	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	483					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						AGGATACTTCTCCAGAAACTT	0.438								Base excision repair (BER), DNA glycosylases																														ENST00000429544.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						c.(1429-1431)gAg>gTg	Base excision repair (BER), DNA glycosylases	methyl-CpG binding domain protein 4							102.0	102.0	102.0					3																	129152054		2203	4300	6503	SO:0001583	missense	8930				depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding	g.chr3:129152054T>A	AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.1448A>T	3.37:g.129152054T>A	ENSP00000249910:p.Glu483Val		Somatic				MBD4_ENST00000249910.1_Missense_Mutation_p.E483V|MBD4_ENST00000393278.2_Missense_Mutation_p.E165V|MBD4_ENST00000507208.1_Missense_Mutation_p.E483V|MBD4_ENST00000503197.1_Missense_Mutation_p.E483V	p.E477V	NM_001276270.1	NP_001263199.1	WXS	Illumina GAIIx	Phase_I	O95243	MBD4_HUMAN			6	1625	-			483					B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000249910.1	37	c.1430A>T	CCDS3058.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.955640	0.73902	.	.	ENSG00000129071	ENST00000429544;ENST00000249910;ENST00000503197;ENST00000393278;ENST00000507208	D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23	5.84	5.84	0.93424	HhH-GPD domain (1);DNA glycosylase (2);	0.157477	0.56097	D	0.000029	D	0.92506	0.7620	M	0.68952	2.095	0.51767	D	0.999934	B;B;B;D;B	0.69078	0.217;0.429;0.095;0.997;0.116	B;B;B;D;B	0.72338	0.363;0.188;0.139;0.977;0.218	D	0.92886	0.6327	10	0.62326	D	0.03	-11.8797	16.2333	0.82358	0.0:0.0:0.0:1.0	.	483;165;477;483;483	E9PEE4;Q2MD36;O95243-2;O95243-3;O95243	.;.;.;.;MBD4_HUMAN	V	477;483;483;165;483	ENSP00000394080:E477V;ENSP00000249910:E483V;ENSP00000424873:E483V;ENSP00000376959:E165V;ENSP00000422327:E483V	ENSP00000249910:E483V	E	-	2	0	MBD4	130634744	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.770000	0.55310	2.367000	0.80283	0.529000	0.55759	GAG		0.438	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355529.1	NM_003925		4	242	0	0	0	1	0	4	242				
ARHGAP21	57584	broad.mit.edu	37	10	24874328	24874328	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:24874328C>T	ENST00000396432.2	-	26	5376	c.4890G>A	c.(4888-4890)ggG>ggA	p.G1630G		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1629	Interaction with CTNNA1.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CCACAGGCCGCCCTTCACTGA	0.567																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(4888-4890)ggG>ggA		Rho GTPase activating protein 21							79.0	81.0	81.0					10																	24874328		2203	4300	6503	SO:0001819	synonymous_variant	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24874328C>T	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4890G>A	10.37:g.24874328C>T			Somatic					p.G1630G	NM_020824.3	NP_065875.3	WXS	Illumina GAIIx	Phase_I	Q5T5U3	RHG21_HUMAN			26	5376	-			1629			Interaction with CTNNA1.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Silent	SNP	ENST00000396432.2	37	c.4890G>A	CCDS7144.2																																																																																				0.567	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		11	482	0	0	0	1	0	11	482				
NAV2	89797	broad.mit.edu	37	11	20089906	20089906	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:20089906G>A	ENST00000396087.3	+	24	5212	c.5113G>A	c.(5113-5115)Gag>Aag	p.E1705K	NAV2_ENST00000360655.4_Missense_Mutation_p.E1585K|NAV2_ENST00000349880.4_Missense_Mutation_p.E1649K|NAV2_ENST00000540292.1_Missense_Mutation_p.E1636K|NAV2_ENST00000396085.1_Missense_Mutation_p.E1649K|NAV2_ENST00000533917.1_Missense_Mutation_p.E713K|NAV2_ENST00000311043.8_Missense_Mutation_p.E713K|NAV2_ENST00000527559.2_Missense_Mutation_p.E1634K	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1705					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGCCTCCCAGGAGAAAGTTTC	0.522																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(4945-4947)Gag>Aag		neuron navigator 2							103.0	102.0	102.0					11																	20089906		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20089906G>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5113G>A	11.37:g.20089906G>A	ENSP00000379396:p.Glu1705Lys		Somatic				NAV2_ENST00000540292.1_Missense_Mutation_p.E1636K|NAV2_ENST00000311043.8_Missense_Mutation_p.E713K|NAV2_ENST00000349880.4_Missense_Mutation_p.E1649K|NAV2_ENST00000533917.1_Missense_Mutation_p.E713K|NAV2_ENST00000527559.2_Missense_Mutation_p.E1634K|NAV2_ENST00000360655.4_Missense_Mutation_p.E1585K|NAV2_ENST00000396087.3_Missense_Mutation_p.E1705K	p.E1649K	NM_182964.5	NP_892009.3	WXS	Illumina GAIIx	Phase_I	Q8IVL1	NAV2_HUMAN			22	5306	+			1705			Ser-rich.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.4945G>A	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	36	5.708953	0.96821	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	T;D;D;D;D;D;T;T;T	0.94000	-1.21;-3.33;-3.33;-3.33;-3.33;-3.33;-1.21;-1.21;-1.21	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000006	D	0.95056	0.8399	L	0.46157	1.445	0.58432	D	0.999999	D;D;P;P;D;D	0.69078	0.995;0.985;0.873;0.94;0.997;0.992	D;P;B;P;D;P	0.70935	0.936;0.724;0.306;0.535;0.971;0.863	D	0.94251	0.7493	9	.	.	.	.	16.9694	0.86295	0.0:0.0:1.0:0.0	.	1649;1705;713;698;1649;1585	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	K	1585;1649;1649;1705;1634;1636;713;698;713;698	ENSP00000353871:E1585K;ENSP00000379394:E1649K;ENSP00000309577:E1649K;ENSP00000379396:E1705K;ENSP00000435395:E1634K;ENSP00000443489:E1636K;ENSP00000437316:E713K;ENSP00000437136:E698K;ENSP00000312169:E713K	.	E	+	1	0	NAV2	20046482	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.087000	0.94110	2.547000	0.85894	0.555000	0.69702	GAG		0.522	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		29	87	0	0	0	1	0	29	87				
GRM7	2917	broad.mit.edu	37	3	7620562	7620562	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:7620562T>C	ENST00000357716.4	+	8	2243	c.1969T>C	c.(1969-1971)Ttc>Ctc	p.F657L	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Missense_Mutation_p.F657L|GRM7_ENST00000486284.1_Missense_Mutation_p.F657L|GRM7_ENST00000389336.4_Missense_Mutation_p.F657L|GRM7_ENST00000402647.2_Missense_Mutation_p.F657L	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	657					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						AGTGTGTTCTTTCCGGCGAGT	0.458																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(1969-1971)Ttc>Ctc		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						126.0	118.0	121.0					3																	7620562		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7620562T>C	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1969T>C	3.37:g.7620562T>C	ENSP00000350348:p.Phe657Leu		Somatic				GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.F657L|GRM7_ENST00000403881.1_Missense_Mutation_p.F657L|GRM7_ENST00000402647.2_Missense_Mutation_p.F657L|GRM7_ENST00000357716.4_Missense_Mutation_p.F657L	p.F657L	NM_181874.2	NP_870989.1	WXS	Illumina GAIIx	Phase_I	Q14831	GRM7_HUMAN			8	2243	+			657					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.1969T>C	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	T	0.650	-0.810040	0.02798	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03	5.93	5.93	0.95920	GPCR, family 3, C-terminal (2);	0.047980	0.85682	D	0.000000	T	0.73426	0.3585	N	0.00422	-1.515	0.52501	D	0.999951	B;P;D;D;B	0.63046	0.0;0.954;0.992;0.963;0.001	B;D;D;D;B	0.76071	0.002;0.943;0.987;0.966;0.001	T	0.75340	-0.3352	10	0.02654	T	1	.	15.2183	0.73288	0.0:0.0:0.0:1.0	.	657;657;412;657;657	B7ZKK0;Q14831-5;Q59G95;Q14831;Q14831-2	.;.;.;GRM7_HUMAN;.	L	657	ENSP00000350348:F657L;ENSP00000417536:F657L;ENSP00000373987:F657L;ENSP00000385664:F657L;ENSP00000384585:F657L	ENSP00000350348:F657L	F	+	1	0	GRM7	7595562	1.000000	0.71417	0.937000	0.37676	0.143000	0.21401	6.194000	0.72082	2.281000	0.76405	0.533000	0.62120	TTC		0.458	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		4	193	0	0	0	1	0	4	193				
TP63	8626	broad.mit.edu	37	3	189349364	189349364	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:189349364G>A	ENST00000264731.3	+	1	149	c.60G>A	c.(58-60)caG>caA	p.Q20Q	TP63_ENST00000382063.4_Silent_p.Q20Q|TP63_ENST00000418709.2_Silent_p.Q20Q|TP63_ENST00000320472.5_Silent_p.Q20Q|TP63_ENST00000440651.2_Silent_p.Q20Q|TP63_ENST00000392460.3_Silent_p.Q20Q	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	20	Transcription activation.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTTACATCCAGCGGTGAGTTT	0.403										HNSCC(45;0.13)																												ENST00000264731.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61						c.(58-60)caG>caA		tumor protein p63							168.0	154.0	159.0					3																	189349364		2203	4300	6503	SO:0001819	synonymous_variant	8626				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189349364G>A	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.60G>A	3.37:g.189349364G>A		HNSCC(45;0.13)	Somatic				TP63_ENST00000440651.2_Silent_p.Q20Q|TP63_ENST00000392460.3_Silent_p.Q20Q|TP63_ENST00000382063.4_Silent_p.Q20Q|TP63_ENST00000418709.2_Silent_p.Q20Q|TP63_ENST00000320472.5_Silent_p.Q20Q	p.Q20Q	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	WXS	Illumina GAIIx	Phase_I	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	1	149	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		20			Transcription activation.		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Silent	SNP	ENST00000264731.3	37	c.60G>A	CCDS3293.1																																																																																				0.403	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		6	326	0	0	0	1	0	6	326				
MCM7	4176	broad.mit.edu	37	7	99693790	99693790	+	Splice_Site	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:99693790C>G	ENST00000303887.5	-	11	1847	c.1202G>C	c.(1201-1203)aGc>aCc	p.S401T	MIR93_ENST00000385024.1_RNA|MIR25_ENST00000384816.1_RNA|MCM7_ENST00000343023.6_Intron|MCM7_ENST00000354230.3_Splice_Site_p.S225T|MIR106B_ENST00000385301.1_RNA	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	401	MCM.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGTGTACTGGCCTGGAAGAGA	0.562																																						ENST00000303887.5																			0				endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17						c.e11-1		minichromosome maintenance complex component 7	Atorvastatin(DB01076)						24.0	25.0	25.0					7																	99693790		2203	4300	6503	SO:0001630	splice_region_variant	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99693790C>G		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1202-1G>C	7.37:g.99693790C>G			Somatic				MCM7_ENST00000343023.6_Intron|MCM7_ENST00000354230.3_Splice_Site_p.S225_splice	p.S401_splice	NM_005916.3	NP_005907.3	WXS	Illumina GAIIx	Phase_I	P33993	MCM7_HUMAN			11	1847	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		401			MCM.		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Splice_Site	SNP	ENST00000303887.5	37	c.1201_splice	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043058	0.75732	.	.	ENSG00000166508	ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	T;T	0.11385	2.78;2.78	4.87	3.98	0.46160	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.32585	0.0834	M	0.80847	2.515	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	T	0.12760	-1.0535	10	0.87932	D	0	.	12.2167	0.54410	0.1715:0.8285:0.0:0.0	.	401	P33993	MCM7_HUMAN	T	401;338;294;225	ENSP00000307288:S401T;ENSP00000346171:S225T	ENSP00000307288:S401T	S	-	2	0	MCM7	99531726	1.000000	0.71417	0.978000	0.43139	0.896000	0.52359	7.324000	0.79115	1.243000	0.43853	0.655000	0.94253	AGC		0.562	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3		Missense_Mutation	9	353	0	0	0	1	0	9	353				
SORCS3	22986	broad.mit.edu	37	10	106976771	106976771	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:106976771C>T	ENST00000369701.3	+	19	2852	c.2625C>T	c.(2623-2625)atC>atT	p.I875I	SORCS3_ENST00000369699.4_Silent_p.I161I	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	875	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.I875I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCAGCCCCATCGAGGACGGCA	0.532																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			1	Substitution - coding silent(1)	p.I875I(1)	stomach(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(2623-2625)atC>atT		sortilin-related VPS10 domain containing receptor 3							165.0	125.0	139.0					10																	106976771		2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106976771C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2625C>T	10.37:g.106976771C>T			Somatic				SORCS3_ENST00000369699.4_Silent_p.I161I	p.I875I	NM_014978.1	NP_055793.1	WXS	Illumina GAIIx	Phase_I	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	19	2852	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	875			PKD.		Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.2625C>T	CCDS7558.1																																																																																				0.532	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		90	58	0	0	0	1	0	90	58				
SPATA31A6	389730	broad.mit.edu	37	9	43627114	43627114	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:43627114G>A	ENST00000332857.6	-	4	1601	c.1573C>T	c.(1573-1575)Cag>Tag	p.Q525*	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	525					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ACTTTATTCTGCGATGCAGGG	0.502																																						ENST00000332857.6																			0											c.(1573-1575)Cag>Tag		SPATA31 subfamily A, member 6							8.0	9.0	9.0					9																	43627114		608	1519	2127	SO:0001587	stop_gained	389730							g.chr9:43627114G>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1573C>T	9.37:g.43627114G>A	ENSP00000329825:p.Gln525*		Somatic					p.Q525*	NM_001145196.1	NP_001138668.1	WXS	Illumina GAIIx	Phase_I					4	1601	-									Nonsense_Mutation	SNP	ENST00000332857.6	37	c.1573C>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.651863	0.67472	.	.	ENSG00000185775	ENST00000332857	.	.	.	2.35	2.35	0.29111	.	0.433051	0.19696	N	0.108155	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	8.4623	0.32936	0.0:0.0:1.0:0.0	.	.	.	.	X	525	.	ENSP00000329825:Q525X	Q	-	1	0	FAM75A6	43567110	0.020000	0.18652	0.003000	0.11579	0.001000	0.01503	2.629000	0.46485	1.663000	0.50791	0.383000	0.25322	CAG		0.502	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		7	391	0	0	0	1	0	7	391				
GRIA1	2890	broad.mit.edu	37	5	152870479	152870479	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:152870479G>T	ENST00000285900.5	+	1	374	c.31G>T	c.(31-33)Ggt>Tgt	p.G11C	GRIA1_ENST00000518142.1_Missense_Mutation_p.G11C|GRIA1_ENST00000521843.2_5'Flank|GRIA1_ENST00000340592.5_Missense_Mutation_p.G11C|GRIA1_ENST00000518862.1_Intron|GRIA1_ENST00000448073.4_5'Flank|GRIA1_ENST00000518783.1_5'Flank	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	11					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CTTCTGCACCGGTTTCCTAGG	0.527																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(31-33)Ggt>Tgt		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						236.0	235.0	235.0					5																	152870479		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:152870479G>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.31G>T	5.37:g.152870479G>T	ENSP00000285900:p.Gly11Cys		Somatic				GRIA1_ENST00000340592.5_Missense_Mutation_p.G11C|GRIA1_ENST00000518142.1_Missense_Mutation_p.G11C|GRIA1_ENST00000518862.1_Intron	p.G11C	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	WXS	Illumina GAIIx	Phase_I	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		1	374	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	11					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.31G>T	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245440	0.59103	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592	T;T;T	0.14266	2.74;2.52;2.74	5.3	5.3	0.74995	.	0.048924	0.85682	D	0.000000	T	0.12987	0.0315	L	0.29908	0.895	0.80722	D	1	P;P;B	0.46457	0.776;0.878;0.0	B;P;B	0.47346	0.33;0.544;0.001	T	0.02184	-1.1199	10	0.39692	T	0.17	.	7.7559	0.28923	0.179:0.0:0.821:0.0	.	11;11;11	B7Z3F6;P42261-2;P42261	.;.;GRIA1_HUMAN	C	11	ENSP00000285900:G11C;ENSP00000427920:G11C;ENSP00000339343:G11C	ENSP00000285900:G11C	G	+	1	0	GRIA1	152850672	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.207000	0.51106	2.466000	0.83321	0.563000	0.77884	GGT		0.527	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			7	696	1	0	1.76689e-08	1	2.19353e-08	7	696				
PLAG1	5324	broad.mit.edu	37	8	57079698	57079698	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:57079698G>A	ENST00000316981.3	-	5	1086	c.607C>T	c.(607-609)Cac>Tac	p.H203Y	PLAG1_ENST00000429357.2_Missense_Mutation_p.H203Y|PLAG1_ENST00000423799.2_Missense_Mutation_p.H121Y	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	203	Decreased nuclear import with localization in the nucleus but also in the cytoplasm.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			ACCACCATGTGTCTCCGGACA	0.483			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																	ENST00000316981.3				Dom	yes		8	8q12	5324	T	pleiomorphic adenoma gene 1			E	"""TCEA1, LIFR, CTNNB1, CHCHD7"""		salivary adenoma	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	0				breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(607-609)Cac>Tac		pleiomorphic adenoma gene 1							86.0	80.0	82.0					8																	57079698		2203	4300	6503	SO:0001583	missense	5324					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:57079698G>A	U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.607C>T	8.37:g.57079698G>A	ENSP00000325546:p.His203Tyr		Somatic				PLAG1_ENST00000423799.2_Missense_Mutation_p.H121Y|PLAG1_ENST00000429357.2_Missense_Mutation_p.H203Y	p.H203Y	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	WXS	Illumina GAIIx	Phase_I	Q6DJT9	PLAG1_HUMAN	Epithelial(17;0.00179)|all cancers(17;0.0125)		5	1086	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	203			Decreased nuclear import with localization in the nucleus but also in the cytoplasm.		B4DLC2|Q59GH8|Q9Y4L2	Missense_Mutation	SNP	ENST00000316981.3	37	c.607C>T	CCDS6165.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504279	0.64410	.	.	ENSG00000181690	ENST00000316981;ENST00000423799;ENST00000429357	D;D;D	0.86769	-2.17;-2.17;-2.17	5.66	5.66	0.87406	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95850	0.8649	H	0.95816	3.725	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.96669	0.9495	10	0.87932	D	0	-18.907	19.7589	0.96306	0.0:0.0:1.0:0.0	.	203	Q6DJT9	PLAG1_HUMAN	Y	203;121;203	ENSP00000325546:H203Y;ENSP00000404067:H121Y;ENSP00000416537:H203Y	ENSP00000325546:H203Y	H	-	1	0	PLAG1	57242252	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.654000	0.90174	0.585000	0.79938	CAC		0.483	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655		89	233	0	0	0	1	0	89	233				
ADCY10	55811	broad.mit.edu	37	1	167815053	167815053	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:167815053C>A	ENST00000367851.4	-	21	2939	c.2755G>T	c.(2755-2757)Gag>Tag	p.E919*	ADCY10_ENST00000367848.1_Nonsense_Mutation_p.E827*|ADCY10_ENST00000545172.1_Nonsense_Mutation_p.E766*	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	919					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCGATCACCTCATTCTCCAGT	0.502																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(2479-2481)Gag>Tag		adenylate cyclase 10 (soluble)							106.0	95.0	99.0					1																	167815053		2203	4300	6503	SO:0001587	stop_gained	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167815053C>A	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.2755G>T	1.37:g.167815053C>A	ENSP00000356825:p.Glu919*		Somatic				ADCY10_ENST00000545172.1_Nonsense_Mutation_p.E766*|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Nonsense_Mutation_p.E919*	p.E827*			WXS	Illumina GAIIx	Phase_I	Q96PN6	ADCYA_HUMAN			21	2976	-			919					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Nonsense_Mutation	SNP	ENST00000367851.4	37	c.2479G>T	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	40	7.913420	0.98557	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	.	.	.	5.96	4.06	0.47325	.	0.485871	0.20906	N	0.083550	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-11.1243	8.2494	0.31708	0.0:0.7598:0.1571:0.0831	.	.	.	.	X	766;919;827	.	ENSP00000356822:E827X	E	-	1	0	ADCY10	166081677	0.004000	0.15560	0.653000	0.29593	0.006000	0.05464	0.053000	0.14184	0.820000	0.34516	0.655000	0.94253	GAG		0.502	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		21	153	1	0	1.37878e-21	1	1.89675e-21	21	153				
RIMS1	22999	broad.mit.edu	37	6	72678723	72678723	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:72678723A>G	ENST00000521978.1	+	2	202	c.202A>G	c.(202-204)Aaa>Gaa	p.K68E	RIMS1_ENST00000518273.1_Missense_Mutation_p.K68E|RIMS1_ENST00000491071.2_Missense_Mutation_p.K68E|RIMS1_ENST00000348717.5_Missense_Mutation_p.K68E|RIMS1_ENST00000522291.1_Missense_Mutation_p.K68E|RIMS1_ENST00000520567.1_Missense_Mutation_p.K68E|RIMS1_ENST00000264839.7_Missense_Mutation_p.K68E|RIMS1_ENST00000517960.1_Missense_Mutation_p.K68E	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	68	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TGCTGCCTGCAAAACACCAAG	0.458																																						ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(202-204)Aaa>Gaa		regulating synaptic membrane exocytosis 1							133.0	138.0	136.0					6																	72678723		1931	4135	6066	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72678723A>G	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.202A>G	6.37:g.72678723A>G	ENSP00000428417:p.Lys68Glu		Somatic				RIMS1_ENST00000520567.1_Missense_Mutation_p.K68E|RIMS1_ENST00000517960.1_Missense_Mutation_p.K68E|RIMS1_ENST00000348717.5_Missense_Mutation_p.K68E|RIMS1_ENST00000522291.1_Missense_Mutation_p.K68E|RIMS1_ENST00000518273.1_Missense_Mutation_p.K68E|RIMS1_ENST00000521978.1_Missense_Mutation_p.K68E|RIMS1_ENST00000491071.2_Missense_Mutation_p.K68E	p.K68E			WXS	Illumina GAIIx	Phase_I	Q86UR5	RIMS1_HUMAN			2	202	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	68			RabBD.		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.202A>G	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.934932	0.52866	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.31	5.31	0.75309	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	.	.	.	.	T	0.09379	0.0231	N	0.08118	0	0.80722	D	1	B	0.14438	0.01	B	0.10450	0.005	T	0.09751	-1.0660	9	0.32370	T	0.25	.	11.6635	0.51361	1.0:0.0:0.0:0.0	.	68	Q86UR5	RIMS1_HUMAN	E	68	ENSP00000430101:K68E;ENSP00000275037:K68E;ENSP00000264839:K68E;ENSP00000429959:K68E;ENSP00000430408:K68E;ENSP00000430502:K68E;ENSP00000430932:K68E;ENSP00000428417:K68E	ENSP00000264839:K68E	K	+	1	0	RIMS1	72735444	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.247000	0.58750	1.990000	0.58119	0.533000	0.62120	AAA		0.458	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			7	276	0	0	0	1	0	7	276				
RAD52	5893	broad.mit.edu	37	12	1042182	1042182	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:1042182G>T	ENST00000358495.3	-	2	181	c.43C>A	c.(43-45)Cat>Aat	p.H15N	RAD52_ENST00000545564.1_Missense_Mutation_p.H15N|RAD52_ENST00000544742.1_Missense_Mutation_p.H15N|RAD52_ENST00000539046.1_Intron|RAD52_ENST00000536177.1_Missense_Mutation_p.H15N|RAD52_ENST00000541619.1_Missense_Mutation_p.H15N|RAD52_ENST00000430095.2_Missense_Mutation_p.H15N	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	15					DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			GCAGCAGGATGGCTGTCACGT	0.458								Homologous recombination																														ENST00000358495.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(43-45)Cat>Aat	Homologous recombination	RAD52 homolog (S. cerevisiae)							219.0	221.0	220.0					12																	1042182		2203	4300	6503	SO:0001583	missense	5893				DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding	g.chr12:1042182G>T		CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"""RAD52 (S. cerevisiae) homolog"""			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.43C>A	12.37:g.1042182G>T	ENSP00000351284:p.His15Asn		Somatic				RAD52_ENST00000536177.1_Missense_Mutation_p.H15N|RAD52_ENST00000541619.1_Missense_Mutation_p.H15N|RAD52_ENST00000539046.1_Intron|RAD52_ENST00000430095.2_Missense_Mutation_p.H15N|RAD52_ENST00000544742.1_Missense_Mutation_p.H15N|RAD52_ENST00000545564.1_Missense_Mutation_p.H15N	p.H15N	NM_134424.2	NP_602296.2	WXS	Illumina GAIIx	Phase_I	P43351	RAD52_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)		2	181	-	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		15					Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Missense_Mutation	SNP	ENST00000358495.3	37	c.43C>A	CCDS8507.2	.	.	.	.	.	.	.	.	.	.	G	10.48	1.360706	0.24598	.	.	ENSG00000002016	ENST00000358495;ENST00000430095;ENST00000536177;ENST00000545564;ENST00000542785;ENST00000397230;ENST00000544742;ENST00000541619	T;T;T;T;T;T;T;T	0.44482	1.96;1.96;1.48;0.92;1.0;0.96;0.96;0.96	4.7	2.87	0.33458	.	0.989056	0.08242	N	0.975908	T	0.25975	0.0633	L	0.29908	0.895	0.09310	N	1	B;P;P	0.39250	0.413;0.665;0.454	B;B;B	0.29663	0.098;0.077;0.105	T	0.10086	-1.0645	10	0.29301	T	0.29	-8.4757	7.1986	0.25868	0.2084:0.0:0.7916:0.0	.	15;15;15	F5GX32;Q9Y5T7;P43351	.;.;RAD52_HUMAN	N	15	ENSP00000351284:H15N;ENSP00000387901:H15N;ENSP00000440486:H15N;ENSP00000440268:H15N;ENSP00000441073:H15N;ENSP00000380407:H15N;ENSP00000443254:H15N;ENSP00000438965:H15N	ENSP00000351284:H15N	H	-	1	0	RAD52	912443	0.008000	0.16893	0.001000	0.08648	0.022000	0.10575	1.781000	0.38644	0.521000	0.28445	0.561000	0.74099	CAT		0.458	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	NM_134424		4	372	1	0	2.74318e-10	1	3.53488e-10	4	372				
KLHL13	90293	broad.mit.edu	37	X	117043719	117043719	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:117043719G>T	ENST00000262820.3	-	5	1820	c.911C>A	c.(910-912)aCt>aAt	p.T304N	KLHL13_ENST00000539496.1_Missense_Mutation_p.T307N|KLHL13_ENST00000371876.1_Missense_Mutation_p.T253N|KLHL13_ENST00000371878.1_Missense_Mutation_p.T253N|KLHL13_ENST00000545703.1_Missense_Mutation_p.T262N|KLHL13_ENST00000540167.1_Missense_Mutation_p.T288N|KLHL13_ENST00000469946.1_Missense_Mutation_p.T253N|KLHL13_ENST00000541812.1_Missense_Mutation_p.T288N|KLHL13_ENST00000371882.1_Missense_Mutation_p.T253N	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	304					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGTATTGTCAGTTCTCATGAA	0.418																																						ENST00000371876.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(757-759)aCt>aAt		kelch-like family member 13							123.0	100.0	108.0					X																	117043719		2203	4300	6503	SO:0001583	missense	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117043719G>T	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.911C>A	X.37:g.117043719G>T	ENSP00000262820:p.Thr304Asn		Somatic				KLHL13_ENST00000371882.1_Missense_Mutation_p.T253N|KLHL13_ENST00000540167.1_Missense_Mutation_p.T288N|KLHL13_ENST00000371878.1_Missense_Mutation_p.T253N|KLHL13_ENST00000545703.1_Missense_Mutation_p.T262N|KLHL13_ENST00000469946.1_Missense_Mutation_p.T253N|KLHL13_ENST00000541812.1_Missense_Mutation_p.T288N|KLHL13_ENST00000262820.3_Missense_Mutation_p.T304N|KLHL13_ENST00000539496.1_Missense_Mutation_p.T307N	p.T253N			WXS	Illumina GAIIx	Phase_I	Q9P2N7	KLH13_HUMAN			4	3179	-			304			BACK.		B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	c.758C>A	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706730	0.48412	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.70399	-0.46;-0.46;-0.46;-0.46;-0.37;-0.37;-0.47;-0.48;-0.46;-0.46	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.69015	0.3064	L	0.37750	1.13	0.80722	D	1	B;P;B;B	0.48089	0.026;0.905;0.014;0.007	B;P;B;B	0.51615	0.041;0.675;0.025;0.007	T	0.63892	-0.6534	10	0.10111	T	0.7	.	17.1659	0.86816	0.0:0.0:1.0:0.0	.	288;307;298;304	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	N	253;253;253;253;288;288;307;304;262;253	ENSP00000360949:T253N;ENSP00000360943:T253N;ENSP00000360945:T253N;ENSP00000412640:T253N;ENSP00000444450:T288N;ENSP00000441029:T288N;ENSP00000443191:T307N;ENSP00000262820:T304N;ENSP00000440707:T262N;ENSP00000419803:T253N	ENSP00000262820:T304N	T	-	2	0	KLHL13	116927747	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.263000	0.95617	2.233000	0.73108	0.594000	0.82650	ACT		0.418	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		5	248	1	0	3.59834e-05	1	4.14379e-05	5	248				
SIRPB2	284759	broad.mit.edu	37	20	1460378	1460378	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:1460378T>C	ENST00000359801.3	-	2	454	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	SIRPB2_ENST00000444444.2_Intron|SIRPB2_ENST00000608747.1_Intron|SIRPB2_ENST00000537284.1_Missense_Mutation_p.K2E	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	133					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCATCCGATTTCATTTCTGAG	0.473																																						ENST00000359801.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(418-420)Aaa>Gaa		signal-regulatory protein beta 2							177.0	153.0	160.0					20																	1460378		1568	3582	5150	SO:0001583	missense	284759					integral to membrane		g.chr20:1460378T>C	AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16247	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type 1-like"", ""protein tyrosine phosphatase, non-receptor type substrate 1-like 3"""	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.418A>G	20.37:g.1460378T>C	ENSP00000352849:p.Lys140Glu		Somatic				SIRPB2_ENST00000381630.1_Intron|SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000537284.1_Missense_Mutation_p.K2E	p.K140E	NM_001122962.1	NP_001116434.1	WXS	Illumina GAIIx	Phase_I	Q5JXA9	SIRB2_HUMAN			2	454	-			140			Ig-like V-type 1.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000359801.3	37	c.418A>G	CCDS42849.1	.	.	.	.	.	.	.	.	.	.	T	10.74	1.436316	0.25813	.	.	ENSG00000196209	ENST00000359801;ENST00000537284	T;T	0.41065	1.01;4.16	3.84	-1.78	0.07957	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	2.067240	0.02358	N	0.076562	T	0.17746	0.0426	N	0.02916	-0.46	0.09310	N	1	B;B	0.16396	0.017;0.009	B;B	0.12837	0.005;0.008	T	0.07616	-1.0763	10	0.33940	T	0.23	-14.157	1.7011	0.02873	0.1632:0.1066:0.3904:0.3398	.	2;140	F5H204;Q5JXA9	.;SIRB2_HUMAN	E	140;2	ENSP00000352849:K140E;ENSP00000445632:K2E	ENSP00000352849:K140E	K	-	1	0	SIRPB2	1408378	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.051000	0.11885	-0.462000	0.06984	-0.333000	0.08304	AAA		0.473	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1	NM_178459		8	1043	0	0	0	1	0	8	1043				
KIF16B	55614	broad.mit.edu	37	20	16409650	16409650	+	Splice_Site	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:16409650C>A	ENST00000354981.2	-	14	1580		c.e14-1		KIF16B_ENST00000408042.1_Splice_Site|KIF16B_ENST00000355755.3_Splice_Site|KIF16B_ENST00000378003.2_Splice_Site	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B						ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCTGACCTTCCTGGGAAGAAA	0.393																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.e14-1		kinesin family member 16B							120.0	110.0	113.0					20																	16409650		2203	4300	6503	SO:0001630	splice_region_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16409650C>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1423-1G>T	20.37:g.16409650C>A			Somatic				KIF16B_ENST00000355755.3_Splice_Site|KIF16B_ENST00000408042.1_Splice_Site|KIF16B_ENST00000378003.2_Splice_Site		NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	WXS	Illumina GAIIx	Phase_I	Q96L93	KI16B_HUMAN			14	1580	-								A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Splice_Site	SNP	ENST00000354981.2	37		CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661710	0.88154	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.09	0.89472	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF16B	16357650	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.655000	0.74392	2.558000	0.86282	0.555000	0.69702	.		0.393	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683	Intron	6	232	1	0	0.000274275	1	0.000308863	6	232				
IL11RA	3590	broad.mit.edu	37	9	34660928	34660928	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:34660928G>A	ENST00000555003.1	+	12	2603	c.1247G>A	c.(1246-1248)cGt>cAt	p.R416H	RP11-195F19.30_ENST00000564224.1_RNA|CCL27_ENST00000557161.1_5'Flank|IL11RA_ENST00000441545.2_Missense_Mutation_p.R416H|IL11RA_ENST00000318041.9_Missense_Mutation_p.R416H			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	416					developmental process (GO:0032502)|embryo implantation (GO:0007566)|head development (GO:0060322)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	GTGGACAGGCGTCCAGGTGAG	0.522																																						ENST00000555003.1																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)	4						c.(1246-1248)cGt>cAt		interleukin 11 receptor, alpha	Oprelvekin(DB00038)						106.0	110.0	109.0					9																	34660928		2203	4300	6503	SO:0001583	missense	3590					integral to plasma membrane	cytokine receptor activity	g.chr9:34660928G>A	Z38102	CCDS6567.1	9p13	2014-05-22			ENSG00000137070	ENSG00000137070		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5967	protein-coding gene	gene with protein product		600939				7670098	Standard	NM_001142784		Approved		uc011loq.3	Q14626	OTTHUMG00000019837	ENST00000555003.1:c.1247G>A	9.37:g.34660928G>A	ENSP00000450565:p.Arg416His		Somatic				IL11RA_ENST00000318041.9_Missense_Mutation_p.R416H|IL11RA_ENST00000441545.2_Missense_Mutation_p.R416H	p.R416H			WXS	Illumina GAIIx	Phase_I	Q14626	I11RA_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	12	2603	+	all_epithelial(49;0.102)		416					Q16542|Q5VZ80|Q7KYJ7	Missense_Mutation	SNP	ENST00000555003.1	37	c.1247G>A	CCDS6567.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833511	0.32421	.	.	ENSG00000137070	ENST00000555003;ENST00000441545;ENST00000318041	T;T;T	0.30448	1.53;1.53;1.53	5.05	-0.0303	0.13915	.	0.972034	0.08458	N	0.942881	T	0.13884	0.0336	N	0.14661	0.345	0.20307	N	0.999913	P;P	0.49358	0.923;0.688	B;B	0.37780	0.258;0.188	T	0.13602	-1.0503	10	0.52906	T	0.07	-1.7413	2.6065	0.04879	0.1365:0.0885:0.402:0.373	.	416;416	Q5VZ79;Q14626	.;I11RA_HUMAN	H	416	ENSP00000450565:R416H;ENSP00000394391:R416H;ENSP00000326500:R416H	ENSP00000326500:R416H	R	+	2	0	IL11RA	34650928	0.917000	0.31117	0.813000	0.32504	0.598000	0.36846	0.170000	0.16663	0.104000	0.17725	-1.131000	0.01979	CGT		0.522	IL11RA-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410625.1	NM_001142784		4	195	0	0	0	1	0	4	195				
SCN10A	6336	broad.mit.edu	37	3	38835367	38835367	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:38835367C>T	ENST00000449082.2	-	1	134	c.135G>A	c.(133-135)aaG>aaA	p.K45K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	45					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CTTCTTGGTCCTTCTGCTCCC	0.552																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(133-135)aaG>aaA		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						168.0	172.0	171.0					3																	38835367		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38835367C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.135G>A	3.37:g.38835367C>T			Somatic					p.K45K	NM_006514.2	NP_006505.2	WXS	Illumina GAIIx	Phase_I	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	1	134	-			45					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.135G>A	CCDS33736.1																																																																																				0.552	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		5	259	0	0	0	1	0	5	259				
MYH7	4625	broad.mit.edu	37	14	23902406	23902406	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:23902406G>A	ENST00000355349.3	-	4	394	c.232C>T	c.(232-234)Cag>Tag	p.Q78*		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	78					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGGTTCTGCTGCATCACCTGG	0.587																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(232-234)Cag>Tag		myosin, heavy chain 7, cardiac muscle, beta							258.0	190.0	213.0					14																	23902406		2203	4300	6503	SO:0001587	stop_gained	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23902406G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.232C>T	14.37:g.23902406G>A	ENSP00000347507:p.Gln78*		Somatic					p.Q78*	NM_000257.2	NP_000248.2	WXS	Illumina GAIIx	Phase_I	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	4	394	-	all_cancers(95;2.54e-05)		78			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Nonsense_Mutation	SNP	ENST00000355349.3	37	c.232C>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	36	5.755367	0.96898	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	.	.	.	3.64	3.64	0.41730	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	11.6444	0.51253	0.0915:0.0:0.9085:0.0	.	.	.	.	X	78	.	ENSP00000347507:Q78X	Q	-	1	0	MYH7	22972246	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	3.068000	0.50018	2.029000	0.59856	0.305000	0.20034	CAG		0.587	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		20	705	0	0	0	1	0	20	705				
MIR518A1	574488	broad.mit.edu	37	19	54233120	54233120	+	RNA	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:54233120C>T	ENST00000385068.1	+	0	0				MIR518E_ENST00000385252.1_RNA|MIR526A2_ENST00000390198.1_RNA	NR_030210.1				microRNA 518a-1																		TAGAGGGAAGCGCTTTCTGTT	0.428																																						ENST00000385252.1																			0																				84.0	80.0	82.0					19																	54233120		1568	3582	5150			574487							g.chr19:54233120C>T			19q13.42	2011-09-12		2008-12-18	ENSG00000207803	ENSG00000207803		"""ncRNAs / Micro RNAs"""	32120	non-coding RNA	RNA, micro				MIRN518A-1, MIRN518A1			Standard	NR_030210		Approved	hsa-mir-518a-1	uc021van.1				19.37:g.54233120C>T			Somatic						NR_030209.1		WXS	Illumina GAIIx	Phase_I					0	29	+									RNA	SNP	ENST00000385068.1	37																																																																																						0.428	MIR518A1-201	KNOWN	basic	miRNA	miRNA		NR_030210		5	321	0	0	0	1	0	5	321				
PTGR1	22949	broad.mit.edu	37	9	114341111	114341111	+	Missense_Mutation	SNP	C	C	A	rs201015425		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:114341111C>A	ENST00000407693.2	-	7	878	c.616G>T	c.(616-618)Gcg>Tcg	p.A206S	PTGR1_ENST00000309195.5_Missense_Mutation_p.A206S|PTGR1_ENST00000238248.3_Missense_Mutation_p.A83S|PTGR1_ENST00000538962.1_Missense_Mutation_p.A206S	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	206					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						TCAGGAGACGCTTTCTTCAAG	0.358																																					Ovarian(200;132 2151 7551 19220 46064)	ENST00000407693.2																			0				endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						c.(616-618)Gcg>Tcg		prostaglandin reductase 1		C	SER/ALA,SER/ALA,SER/ALA	0,4406		0,0,2203	93.0	83.0	86.0		616,616,616	4.9	1.0	9		86	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	PTGR1	NM_001146108.1,NM_001146109.1,NM_012212.3	99,99,99	0,2,6501	AA,AC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	206/330,206/302,206/330	114341111	2,13004	2203	4300	6503	SO:0001583	missense	22949				leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr9:114341111C>A	D49387	CCDS6779.1, CCDS55331.1	9q32	2008-06-04	2008-06-02	2008-06-02	ENSG00000106853	ENSG00000106853	1.3.1.74, 1.3.1.48		18429	protein-coding gene	gene with protein product	"""zinc binding alcohol dehydrogenase domain containing 3"""	601274	"""leukotriene B4 12-hydroxydehydrogenase"""	LTB4DH		8576264, 17449869	Standard	NM_001146109		Approved	ZADH3	uc004bfh.2	Q14914	OTTHUMG00000020493	ENST00000407693.2:c.616G>T	9.37:g.114341111C>A	ENSP00000385763:p.Ala206Ser		Somatic				PTGR1_ENST00000309195.5_Missense_Mutation_p.A206S|PTGR1_ENST00000238248.3_Missense_Mutation_p.A83S|PTGR1_ENST00000538962.1_Missense_Mutation_p.A206S	p.A206S	NM_001146108.1	NP_001139580.1	WXS	Illumina GAIIx	Phase_I	Q14914	PTGR1_HUMAN			7	878	-			206					A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6	Missense_Mutation	SNP	ENST00000407693.2	37	c.616G>T	CCDS6779.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.758092	0.89843	0.0	2.33E-4	ENSG00000106853	ENST00000538962;ENST00000309195;ENST00000407693;ENST00000374324;ENST00000238248	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	4.95	4.95	0.65309	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.62889	0.2465	M	0.92122	3.275	0.80722	D	1	P;P;P;P	0.39920	0.678;0.64;0.64;0.695	P;P;P;P	0.55345	0.728;0.758;0.758;0.774	T	0.69793	-0.5049	10	0.62326	D	0.03	-12.6936	17.8352	0.88694	0.0:1.0:0.0:0.0	.	206;206;83;206	F5GY50;B4DPK3;Q5JVP3;Q14914	.;.;.;PTGR1_HUMAN	S	206;206;206;83;83	ENSP00000440281:A206S;ENSP00000311572:A206S;ENSP00000385763:A206S;ENSP00000238248:A83S	ENSP00000238248:A83S	A	-	1	0	PTGR1	113380932	1.000000	0.71417	0.993000	0.49108	0.928000	0.56348	5.269000	0.65542	2.676000	0.91093	0.563000	0.77884	GCG		0.358	PTGR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053647.2			5	78	1	0	0.00116845	1	0.00129573	5	78				
PLCL1	5334	broad.mit.edu	37	2	198950684	198950684	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:198950684C>T	ENST00000428675.1	+	2	2841	c.2443C>T	c.(2443-2445)Cca>Tca	p.P815S	PLCL1_ENST00000437704.2_Missense_Mutation_p.P717S	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	815					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATATACGATACCATTTGAATG	0.438																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2443-2445)Cca>Tca		phospholipase C-like 1	Quinacrine(DB01103)						209.0	189.0	196.0					2																	198950684		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950684C>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2443C>T	2.37:g.198950684C>T	ENSP00000402861:p.Pro815Ser		Somatic				PLCL1_ENST00000437704.2_Missense_Mutation_p.P717S	p.P815S	NM_006226.3	NP_006217.3	WXS	Illumina GAIIx	Phase_I	Q15111	PLCL1_HUMAN			2	2841	+			815					Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.2443C>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445777	0.63178	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.16897	2.31;2.31	5.5	5.5	0.81552	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.089947	0.49305	D	0.000148	T	0.45135	0.1327	M	0.82056	2.57	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.65010	0.931;0.931	T	0.30446	-0.9978	9	.	.	.	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	815;741	Q15111;B4DYZ4	PLCL1_HUMAN;.	S	815;717	ENSP00000402861:P815S;ENSP00000414138:P717S	.	P	+	1	0	PLCL1	198658929	1.000000	0.71417	0.867000	0.34043	0.944000	0.59088	7.641000	0.83368	2.861000	0.98227	0.655000	0.94253	CCA		0.438	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		44	86	0	0	0	1	0	44	86				
TMEM108	66000	broad.mit.edu	37	3	133098622	133098622	+	Missense_Mutation	SNP	G	G	A	rs367779843		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:133098622G>A	ENST00000321871.6	+	4	277	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	TMEM108_ENST00000515826.1_Missense_Mutation_p.E23K|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.E23K	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	23						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCACTGACCGAAGCGCTGGC	0.552																																						ENST00000515826.1																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(67-69)Gaa>Aaa		transmembrane protein 108			LYS/GLU,LYS/GLU	0,4406		0,0,2203	299.0	312.0	307.0		67,67	3.5	0.8	3		307	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TMEM108	NM_023943.2,NM_001136469.1	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	23/576,23/576	133098622	1,13005	2203	4300	6503	SO:0001583	missense	66000					integral to membrane		g.chr3:133098622G>A	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.67G>A	3.37:g.133098622G>A	ENSP00000324651:p.Glu23Lys		Somatic				TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000321871.6_Missense_Mutation_p.E23K|TMEM108_ENST00000393130.3_Missense_Mutation_p.E23K	p.E23K			WXS	Illumina GAIIx	Phase_I	Q6UXF1	TM108_HUMAN			3	190	+			23					D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	c.67G>A	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	g	15.14	2.744866	0.49151	0.0	1.16E-4	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000512137;ENST00000511555;ENST00000515826;ENST00000510183	T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64	4.41	3.52	0.40303	.	0.237850	0.21829	N	0.068514	T	0.30854	0.0778	N	0.22421	0.69	0.09310	N	0.999998	B;B	0.24132	0.098;0.098	B;B	0.16722	0.016;0.016	T	0.16188	-1.0411	10	0.39692	T	0.17	-2.7734	9.0831	0.36565	0.0849:0.1477:0.7675:0.0	.	23;23	E9PB58;Q6UXF1	.;TM108_HUMAN	K	23	ENSP00000324651:E23K;ENSP00000376838:E23K;ENSP00000426301:E23K;ENSP00000422196:E23K;ENSP00000423338:E23K;ENSP00000421486:E23K	ENSP00000324651:E23K	E	+	1	0	TMEM108	134581312	1.000000	0.71417	0.836000	0.33094	0.844000	0.47949	5.439000	0.66556	0.955000	0.37878	0.556000	0.70494	GAA		0.552	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		13	731	0	0	0	1	0	13	731				
PCDHB4	56131	broad.mit.edu	37	5	140502915	140502915	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:140502915C>T	ENST00000194152.1	+	1	1335	c.1335C>T	c.(1333-1335)gaC>gaT	p.D445D	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	445	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGTCAATGACAACGCCCCCG	0.597																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(1333-1335)gaC>gaT									103.0	95.0	98.0					5																	140502915		2203	4300	6503	SO:0001819	synonymous_variant	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502915C>T	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1335C>T	5.37:g.140502915C>T			Somatic					p.D445D	NM_018938.2	NP_061761.1	WXS	Illumina GAIIx	Phase_I	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1335	+			445			Cadherin 4.		Q4V761	Silent	SNP	ENST00000194152.1	37	c.1335C>T	CCDS4246.1																																																																																				0.597	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		27	147	0	0	0	1	0	27	147				
IFNB1	3456	broad.mit.edu	37	9	21077375	21077375	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:21077375G>A	ENST00000380232.2	-	1	568	c.494C>T	c.(493-495)aCc>aTc	p.T165I		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	165					adaptive immune response (GO:0002250)|B cell activation involved in immune response (GO:0002312)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of viral genome replication (GO:0045071)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)		TCTGACTATGGTCCAGGCACA	0.468																																						ENST00000380232.2																			0				breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12						c.(493-495)aCc>aTc		interferon, beta 1, fibroblast	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)						160.0	156.0	157.0					9																	21077375		2203	4300	6503	SO:0001583	missense	3456				activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity	g.chr9:21077375G>A		CCDS6495.1	9p22	2008-07-21			ENSG00000171855	ENSG00000171855		"""Interferons"""	5434	protein-coding gene	gene with protein product		147640		IFNB			Standard	NM_002176		Approved	IFB, IFF	uc003zok.3	P01574	OTTHUMG00000019652	ENST00000380232.2:c.494C>T	9.37:g.21077375G>A	ENSP00000369581:p.Thr165Ile		Somatic					p.T165I	NM_002176.2	NP_002167.1	WXS	Illumina GAIIx	Phase_I	P01574	IFNB_HUMAN		GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	1	568	-			165					Q5VWC9	Missense_Mutation	SNP	ENST00000380232.2	37	c.494C>T	CCDS6495.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.403682	0.42613	.	.	ENSG00000171855	ENST00000380232	T	0.17854	2.25	5.45	0.515	0.17013	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.342349	0.30538	N	0.009407	T	0.29158	0.0725	M	0.74881	2.28	0.20074	N	0.999938	D	0.56968	0.978	P	0.60236	0.871	T	0.07558	-1.0766	10	0.87932	D	0	-0.0816	3.6292	0.08124	0.2446:0.0:0.298:0.4574	.	165	P01574	IFNB_HUMAN	I	165	ENSP00000369581:T165I	ENSP00000369581:T165I	T	-	2	0	IFNB1	21067375	0.073000	0.21202	0.286000	0.24833	0.381000	0.30169	0.119000	0.15626	0.226000	0.20979	0.650000	0.86243	ACC		0.468	IFNB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051881.1	NM_002176		5	601	0	0	0	1	0	5	601				
ITLN2	142683	broad.mit.edu	37	1	160917768	160917768	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:160917768G>T	ENST00000368029.3	-	7	833	c.776C>A	c.(775-777)gCc>gAc	p.A259D	ITLN2_ENST00000494442.1_5'UTR|RP11-544M22.1_ENST00000356006.3_RNA	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	259	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AAGGGCGTTGGCTGCTCTCTC	0.458																																						ENST00000368029.3																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19						c.(775-777)gCc>gAc		intelectin 2							120.0	107.0	111.0					1																	160917768		2203	4300	6503	SO:0001583	missense	142683				signal transduction	extracellular region	receptor binding|sugar binding	g.chr1:160917768G>T	AY065973	CCDS1212.1	1q22-q23.5	2013-02-06			ENSG00000158764	ENSG00000158764		"""Fibrinogen C domain containing"""	20599	protein-coding gene	gene with protein product		609874				11181563	Standard	NM_080878		Approved	HL-2	uc001fxd.3	Q8WWU7	OTTHUMG00000028605	ENST00000368029.3:c.776C>A	1.37:g.160917768G>T	ENSP00000357008:p.Ala259Asp		Somatic				ITLN2_ENST00000494442.1_5'UTR|RP11-544M22.1_ENST00000356006.3_RNA	p.A259D	NM_080878.2	NP_543154.1	WXS	Illumina GAIIx	Phase_I	Q8WWU7	ITLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		7	833	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		259			Fibrinogen C-terminal.		Q17RR2|Q5VYI0	Missense_Mutation	SNP	ENST00000368029.3	37	c.776C>A	CCDS1212.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074446	0.36566	.	.	ENSG00000158764	ENST00000368029	T	0.20069	2.1	4.4	2.51	0.30379	.	0.114590	0.32328	U	0.006254	T	0.29620	0.0739	M	0.87682	2.9	0.36183	D	0.849546	D;D	0.62365	0.991;0.957	P;P	0.58210	0.835;0.691	T	0.23583	-1.0184	10	0.72032	D	0.01	-3.8495	8.8052	0.34934	0.1917:0.0:0.8083:0.0	.	258;259	A6NI51;Q8WWU7	.;ITLN2_HUMAN	D	259	ENSP00000357008:A259D	ENSP00000357008:A259D	A	-	2	0	ITLN2	159184392	0.999000	0.42202	0.941000	0.38009	0.012000	0.07955	1.752000	0.38349	0.401000	0.25424	-0.266000	0.10368	GCC		0.458	ITLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071465.1	NM_080878		7	60	1	0	5.4927e-09	1	6.92026e-09	7	60				
HSPB6	126393	broad.mit.edu	37	19	36245353	36245353	+	IGR	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:36245353G>A	ENST00000592984.1	-	0	1634				AC002398.11_ENST00000591091.1_RNA|AC002398.12_ENST00000587767.1_RNA|LIN37_ENST00000301159.9_Missense_Mutation_p.R240Q|AC002398.9_ENST00000591613.2_3'UTR			O14558	HSPB6_HUMAN	heat shock protein, alpha-crystallin-related, B6						regulation of muscle contraction (GO:0006937)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			lung(1)	1	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGATCCTACGAGAGATGTAC	0.587																																						ENST00000301159.9																			0				large_intestine(1)|lung(5)	6						c.(718-720)cGa>cAa		lin-37 homolog (C. elegans)							59.0	61.0	60.0					19																	36245353		2021	4179	6200	SO:0001628	intergenic_variant	55957						protein binding	g.chr19:36245353G>A	AJ278121	CCDS12475.1	19q13.13	2014-06-12			ENSG00000004776	ENSG00000004776		"""Heat shock proteins / HSPB"""	26511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 91"""	610695				12820654, 14717697	Standard	NM_144617		Approved	FLJ32389, Hsp20, PPP1R91	uc002obn.2	O14558	OTTHUMG00000048122		19.37:g.36245353G>A			Somatic				AC002398.9_ENST00000591613.2_3'UTR	p.R240Q	NM_019104.2	NP_061977.1	WXS	Illumina GAIIx	Phase_I	Q96GY3	LIN37_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		9	1083	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		240					O14551|Q6NVI3|Q96MG9	Missense_Mutation	SNP	ENST00000592984.1	37	c.719G>A	CCDS12475.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469270	0.63625	.	.	ENSG00000188223	ENST00000301159	T	0.18502	2.21	5.81	5.81	0.92471	.	0.059976	0.64402	D	0.000003	T	0.11879	0.0289	L	0.33485	1.01	0.33332	D	0.568669	P	0.47762	0.9	B	0.35278	0.199	T	0.15407	-1.0438	10	0.56958	D	0.05	0.0461	10.9881	0.47532	0.0846:0.0:0.9154:0.0	.	240	Q96GY3	LIN37_HUMAN	Q	240	ENSP00000301159:R240Q	ENSP00000301159:R240Q	R	+	2	0	LIN37	40937193	1.000000	0.71417	0.987000	0.45799	0.910000	0.53928	6.501000	0.73691	2.753000	0.94483	0.655000	0.94253	CGA		0.587	HSPB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109498.3	NM_144617		3	37	0	0	0	1	0	3	37				
TEAD1	7003	broad.mit.edu	37	11	12902559	12902559	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:12902559C>T	ENST00000526600.1	+	2	408	c.185C>T	c.(184-186)cCg>cTg	p.P62L	TEAD1_ENST00000334310.6_Missense_Mutation_p.P147L|TEAD1_ENST00000361985.2_Missense_Mutation_p.P158L|TEAD1_ENST00000527636.1_Missense_Mutation_p.P158L|TEAD1_ENST00000361905.4_Missense_Mutation_p.P143L|TEAD1_ENST00000527575.1_Missense_Mutation_p.P158L			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	158					gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CAGTTCTGGCCGGGAATGATT	0.527																																						ENST00000361905.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17						c.(427-429)cCg>cTg		TEA domain family member 1 (SV40 transcriptional enhancer factor)							193.0	171.0	179.0					11																	12902559		2200	4294	6494	SO:0001583	missense	7003				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:12902559C>T	X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"""atrophia areata, peripapillary chorioretinal degeneration"""	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000526600.1:c.185C>T	11.37:g.12902559C>T	ENSP00000435393:p.Pro62Leu		Somatic				TEAD1_ENST00000527575.1_Missense_Mutation_p.P158L|TEAD1_ENST00000361985.2_Missense_Mutation_p.P158L|TEAD1_ENST00000334310.6_Missense_Mutation_p.P147L|TEAD1_ENST00000526600.1_Missense_Mutation_p.P62L|TEAD1_ENST00000527636.1_Missense_Mutation_p.P158L	p.P143L	NM_021961.5	NP_068780.2	WXS	Illumina GAIIx	Phase_I	P28347	TEAD1_HUMAN		Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)	7	1093	+			158			Pro-rich.		A4FUP2|E7EV65	Missense_Mutation	SNP	ENST00000526600.1	37	c.428C>T		.	.	.	.	.	.	.	.	.	.	C	18.32	3.598915	0.66332	.	.	ENSG00000187079	ENST00000361905;ENST00000527636;ENST00000527575;ENST00000334310;ENST00000361985;ENST00000526600	T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69	5.53	5.53	0.82687	.	0.153564	0.64402	D	0.000011	T	0.26521	0.0648	L	0.55213	1.73	0.80722	D	1	P;B;B	0.45594	0.862;0.339;0.006	B;B;B	0.35114	0.196;0.069;0.009	T	0.07252	-1.0782	10	0.49607	T	0.09	-14.0972	19.0724	0.93145	0.0:1.0:0.0:0.0	.	147;62;158	A4FUP2;E9PKB7;P28347	.;.;TEAD1_HUMAN	L	143;158;158;147;158;62	ENSP00000355332:P143L;ENSP00000435233:P158L;ENSP00000435977:P158L;ENSP00000334754:P147L;ENSP00000354588:P158L;ENSP00000435393:P62L	ENSP00000334754:P147L	P	+	2	0	TEAD1	12859135	1.000000	0.71417	0.966000	0.40874	0.989000	0.77384	6.001000	0.70685	2.593000	0.87608	0.655000	0.94253	CCG		0.527	TEAD1-007	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000387220.1	NM_021961		4	274	0	0	0	1	0	4	274				
COL6A3	1293	broad.mit.edu	37	2	238249767	238249767	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:238249767C>T	ENST00000295550.4	-	38	8244	c.7792G>A	c.(7792-7794)Gga>Aga	p.G2598R	COL6A3_ENST00000409809.1_Missense_Mutation_p.G2392R|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1991R|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2397R|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2398R|COL6A3_ENST00000353578.4_Missense_Mutation_p.G2392R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2598	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGCCAAATCCACAGGATGGG	0.532																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(7792-7794)Gga>Aga		collagen, type VI, alpha 3							126.0	125.0	125.0					2																	238249767		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238249767C>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7792G>A	2.37:g.238249767C>T	ENSP00000295550:p.Gly2598Arg		Somatic				COL6A3_ENST00000353578.4_Missense_Mutation_p.G2392R|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2398R|COL6A3_ENST00000409809.1_Missense_Mutation_p.G2392R|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2397R|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1991R	p.G2598R	NM_004369.3	NP_004360.2	WXS	Illumina GAIIx	Phase_I	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	38	8244	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2598			Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.7792G>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.758249	0.31137	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.87809	-2.3;-2.29;-2.27;-2.27;-2.27;-2.27	5.05	5.05	0.67936	.	0.000000	0.51477	D	0.000082	D	0.87132	0.6101	N	0.24115	0.695	0.43300	D	0.995292	D;D;D	0.89917	0.973;0.972;1.0	P;P;D	0.76071	0.687;0.771;0.987	D	0.84142	0.0418	10	0.23302	T	0.38	.	12.1796	0.54204	0.0:0.9211:0.0:0.0789	.	1991;2392;2598	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	R	2598;2397;2392;1991;2392;2398	ENSP00000295550:G2598R;ENSP00000315609:G2397R;ENSP00000315873:G2392R;ENSP00000418285:G1991R;ENSP00000386844:G2392R;ENSP00000295546:G2398R	ENSP00000295550:G2598R	G	-	1	0	COL6A3	237914506	0.993000	0.37304	0.978000	0.43139	0.583000	0.36354	3.866000	0.56040	2.478000	0.83669	0.655000	0.94253	GGA		0.532	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		11	119	0	0	0	1	0	11	119				
EPB42	2038	broad.mit.edu	37	15	43494079	43494079	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:43494079G>T	ENST00000441366.2	-	12	2101	c.1876C>A	c.(1876-1878)Ctg>Atg	p.L626M	EPB42_ENST00000563128.1_5'UTR|EPB42_ENST00000300215.3_Missense_Mutation_p.L656M|EPB42_ENST00000540029.1_Missense_Mutation_p.L548M	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	626					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CCCCTTCCCAGGATGGAGATC	0.552																																						ENST00000300215.3																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1966-1968)Ctg>Atg		erythrocyte membrane protein band 4.2							153.0	141.0	145.0					15																	43494079		2203	4299	6502	SO:0001583	missense	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43494079G>T	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.1876C>A	15.37:g.43494079G>T	ENSP00000396616:p.Leu626Met		Somatic				EPB42_ENST00000563128.1_5'UTR|EPB42_ENST00000540029.1_Missense_Mutation_p.L548M|EPB42_ENST00000441366.2_Missense_Mutation_p.L626M	p.L656M			WXS	Illumina GAIIx	Phase_I	P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	12	2423	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	626					Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	c.1966C>A	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.398014	0.25205	.	.	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	T;T;T	0.30182	1.54;1.54;1.54	4.59	-1.28	0.09318	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	1.262640	0.05231	N	0.510291	T	0.21267	0.0512	N	0.08118	0	0.09310	N	1	P;P;P	0.46784	0.545;0.884;0.836	B;P;P	0.48030	0.281;0.451;0.564	T	0.28522	-1.0041	10	0.37606	T	0.19	-0.4499	8.0664	0.30663	0.685:0.0:0.315:0.0	.	548;656;626	F5H563;P16452-2;P16452	.;.;EPB42_HUMAN	M	656;548;626;554	ENSP00000300215:L656M;ENSP00000444699:L548M;ENSP00000396616:L626M	ENSP00000300215:L656M	L	-	1	2	EPB42	41281371	0.000000	0.05858	0.138000	0.22173	0.774000	0.43823	-1.012000	0.03649	-0.051000	0.13334	0.561000	0.74099	CTG		0.552	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		31	1223	1	0	7.88262e-20	1	1.08147e-19	31	1223				
IGFL2	147920	broad.mit.edu	37	19	46663969	46663969	+	Missense_Mutation	SNP	G	G	A	rs367624938		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:46663969G>A	ENST00000377693.4	+	3	208	c.172G>A	c.(172-174)Gtg>Atg	p.V58M	IGFL2_ENST00000600243.1_3'UTR|AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000434646.2_Missense_Mutation_p.V69M	NM_001135113.1	NP_001128585.1	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	58						extracellular region (GO:0005576)				cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		TGACGCCATCGTGTCCCTGAG	0.577																																						ENST00000434646.2																			0				cervix(1)|lung(5)	6						c.(205-207)Gtg>Atg		IGF-like family member 2		G	MET/VAL,MET/VAL	0,4400		0,0,2200	180.0	189.0	186.0		205,172	-5.7	0.0	19		186	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	IGFL2	NM_001002915.2,NM_001135113.1	21,21	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	69/131,58/120	46663969	1,12997	2200	4299	6499	SO:0001583	missense	147920					extracellular region	protein binding	g.chr19:46663969G>A	AY672112	CCDS46121.1, CCDS46122.1	19q13.32	2006-07-14							32929	protein-coding gene	gene with protein product		610545				14702039	Standard	NM_001002915		Approved	UNQ645	uc010xxv.2	Q6UWQ7		ENST00000377693.4:c.172G>A	19.37:g.46663969G>A	ENSP00000366922:p.Val58Met		Somatic				IGFL2_ENST00000600243.1_3'UTR|IGFL2_ENST00000377693.4_Missense_Mutation_p.V58M|AC007193.6_ENST00000597989.1_lincRNA	p.V69M	NM_001002915.2	NP_001002915.2	WXS	Illumina GAIIx	Phase_I	Q6UWQ7	IGFL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)	4	496	+		Ovarian(192;0.0908)|all_neural(266;0.113)	58					E9PAV1|Q6B9Z3	Missense_Mutation	SNP	ENST00000377693.4	37	c.205G>A	CCDS46121.1	.	.	.	.	.	.	.	.	.	.	G	9.106	1.005382	0.19199	0.0	1.16E-4	ENSG00000204866	ENST00000434646;ENST00000377693	T;T	0.28895	1.59;1.59	2.83	-5.65	0.02459	.	.	.	.	.	T	0.21881	0.0527	L	0.29908	0.895	0.09310	N	1	D;D	0.61697	0.967;0.99	B;B	0.44315	0.301;0.446	T	0.29852	-0.9998	9	0.62326	D	0.03	-13.2805	11.0424	0.47838	0.0:0.1933:0.7026:0.1041	.	58;69	Q6UWQ7;Q6UWQ7-2	IGFL2_HUMAN;.	M	69;58	ENSP00000395219:V69M;ENSP00000366922:V58M	ENSP00000366922:V58M	V	+	1	0	IGFL2	51355809	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.191000	0.03055	-1.361000	0.02169	-1.640000	0.00773	GTG		0.577	IGFL2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000461705.1	NM_001002915		4	518	0	0	0	1	0	4	518				
SYNE1	23345	broad.mit.edu	37	6	152749365	152749365	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:152749365C>T	ENST00000367255.5	-	37	5552	c.4951G>A	c.(4951-4953)Gag>Aag	p.E1651K	SYNE1_ENST00000423061.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1721K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1651K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1651K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1651					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCAGATTCTCCAGCGCCGTC	0.512										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(4951-4953)Gag>Aag		spectrin repeat containing, nuclear envelope 1							196.0	204.0	201.0					6																	152749365		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152749365C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4951G>A	6.37:g.152749365C>T	ENSP00000356224:p.Glu1651Lys	HNSCC(10;0.0054)	Somatic				SYNE1_ENST00000448038.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1651K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1721K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1651K	p.E1651K	NM_182961.3	NP_892006.3	WXS	Illumina GAIIx	Phase_I	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	37	5552	-		Ovarian(120;0.0955)	1651					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.4951G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984058	0.74474	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38	5.87	5.87	0.94306	.	0.196546	0.35179	N	0.003396	T	0.58764	0.2145	M	0.65498	2.005	0.80722	D	1	P;P;P;P;P	0.49862	0.856;0.866;0.929;0.866;0.929	B;B;P;B;P	0.51582	0.393;0.419;0.674;0.419;0.539	T	0.61476	-0.7055	10	0.66056	D	0.02	.	20.206	0.98277	0.0:1.0:0.0:0.0	.	1634;1651;1651;1651;1658	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	K	1651;1658;1651;1658;1721;1651	ENSP00000356224:E1651K;ENSP00000396024:E1658K;ENSP00000265368:E1651K;ENSP00000390975:E1658K;ENSP00000341887:E1721K;ENSP00000356222:E1651K	ENSP00000265368:E1651K	E	-	1	0	SYNE1	152791058	1.000000	0.71417	0.866000	0.34008	0.585000	0.36419	6.449000	0.73473	2.785000	0.95823	0.655000	0.94253	GAG		0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		5	231	0	0	0	1	0	5	231				
SLC25A38	54977	broad.mit.edu	37	3	39432934	39432934	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:39432934C>A	ENST00000273158.4	+	4	656	c.279C>A	c.(277-279)tcC>tcA	p.S93S		NM_017875.2	NP_060345.2			solute carrier family 25, member 38											breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CTCTGCAGTCCATTGTGAGAT	0.468																																						ENST00000273158.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						c.(277-279)tcC>tcA		solute carrier family 25, member 38							337.0	366.0	356.0					3																	39432934		2203	4300	6503	SO:0001819	synonymous_variant	54977				erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane		g.chr3:39432934C>A	BC013194	CCDS2685.1	3p22.1	2013-05-22			ENSG00000144659	ENSG00000144659		"""Solute carriers"""	26054	protein-coding gene	gene with protein product		610819				16949250	Standard	NM_017875		Approved	FLJ20551	uc003cjo.2	Q96DW6	OTTHUMG00000131289	ENST00000273158.4:c.279C>A	3.37:g.39432934C>A			Somatic					p.S93S	NM_017875.2	NP_060345.2	WXS	Illumina GAIIx	Phase_I	Q96DW6	S2538_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	4	656	+			93						Silent	SNP	ENST00000273158.4	37	c.279C>A	CCDS2685.1																																																																																				0.468	SLC25A38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254057.3	NM_017875		17	561	1	0	5.35267e-07	1	6.53359e-07	17	561				
NDN	4692	broad.mit.edu	37	15	23931741	23931741	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:23931741G>T	ENST00000331837.4	-	1	709	c.624C>A	c.(622-624)agC>agA	p.S208R		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	208	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TCCAGACGGCGCTCTCTCTGG	0.637									Prader-Willi syndrome																													ENST00000331837.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39						c.(622-624)agC>agA		necdin, melanoma antigen (MAGE) family member							26.0	26.0	26.0					15																	23931741		2200	4295	6495	SO:0001583	missense	4692	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23931741G>T	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.624C>A	15.37:g.23931741G>T	ENSP00000332643:p.Ser208Arg		Somatic					p.S208R	NM_002487.2	NP_002478.1	WXS	Illumina GAIIx	Phase_I	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	709	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	208			MAGE.		B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	c.624C>A	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.119867	0.56613	.	.	ENSG00000182636	ENST00000331837	T	0.05025	3.51	3.22	-2.42	0.06542	.	0.509243	0.21276	N	0.077228	T	0.09335	0.0230	L	0.38175	1.15	0.27068	N	0.963399	P	0.43788	0.817	P	0.54856	0.762	T	0.09796	-1.0658	10	0.72032	D	0.01	.	7.8533	0.29468	0.6423:0.0:0.3577:0.0	.	208	Q99608	NECD_HUMAN	R	208	ENSP00000332643:S208R	ENSP00000332643:S208R	S	-	3	2	NDN	21482834	0.017000	0.18338	0.726000	0.30738	0.918000	0.54935	-1.264000	0.02847	-0.551000	0.06175	0.561000	0.74099	AGC		0.637	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		9	98	1	0	2.27111e-07	1	2.78553e-07	9	98				
FLG2	388698	broad.mit.edu	37	1	152324175	152324175	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:152324175G>A	ENST00000388718.5	-	3	6159	c.6087C>T	c.(6085-6087)ggC>ggT	p.G2029G	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2029					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTCACTGTGGCCAGATGCCC	0.537																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(6085-6087)ggC>ggT		filaggrin family member 2							430.0	401.0	411.0					1																	152324175		2201	4300	6501	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152324175G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6087C>T	1.37:g.152324175G>A			Somatic				FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.G2029G	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6159	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2029					Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.6087C>T	CCDS30861.1																																																																																				0.537	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		16	506	0	0	0	1	0	16	506				
CPSF3	51692	broad.mit.edu	37	2	9580692	9580692	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:9580692G>A	ENST00000238112.3	+	8	1039	c.833G>A	c.(832-834)tGt>tAt	p.C278Y	CPSF3_ENST00000460593.1_Missense_Mutation_p.C241Y	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	278					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|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)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		GCCAAGAAGTGTATGGCAGTG	0.373																																					Colon(194;1259 2048 3845 5218 19985)	ENST00000460593.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(721-723)tGt>tAt		cleavage and polyadenylation specific factor 3, 73kDa							196.0	168.0	178.0					2																	9580692		2203	4300	6503	SO:0001583	missense	51692				histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding	g.chr2:9580692G>A	AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"""cleavage and polyadenylation specific factor 3, 73kD subunit"""			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.833G>A	2.37:g.9580692G>A	ENSP00000238112:p.Cys278Tyr		Somatic				CPSF3_ENST00000238112.3_Missense_Mutation_p.C278Y	p.C241Y			WXS	Illumina GAIIx	Phase_I	Q9UKF6	CPSF3_HUMAN		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)	8	1860	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)	278					O14769|Q53RS2|Q96F36	Missense_Mutation	SNP	ENST00000238112.3	37	c.722G>A	CCDS1664.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619034	0.87460	.	.	ENSG00000119203	ENST00000238112;ENST00000427001;ENST00000460593	T;T	0.44881	0.91;0.91	5.36	5.36	0.76844	Beta-Casp domain (1);	0.047302	0.85682	D	0.000000	T	0.75796	0.3898	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.82884	-0.0236	10	0.87932	D	0	-15.8314	19.5055	0.95113	0.0:0.0:1.0:0.0	.	278;278	E7ER23;Q9UKF6	.;CPSF3_HUMAN	Y	278;278;241	ENSP00000238112:C278Y;ENSP00000418957:C241Y	ENSP00000238112:C278Y	C	+	2	0	CPSF3	9498143	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.747000	0.98863	2.672000	0.90937	0.551000	0.68910	TGT		0.373	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207		4	97	0	0	0	1	0	4	97				
TMEM131	23505	broad.mit.edu	37	2	98409923	98409923	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:98409923G>T	ENST00000186436.5	-	30	3708	c.3480C>A	c.(3478-3480)aaC>aaA	p.N1160K		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1160						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CGAAGGGCGGGTTCGAGGCCT	0.473																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(3478-3480)aaC>aaA		transmembrane protein 131							75.0	76.0	76.0					2																	98409923		1865	4089	5954	SO:0001583	missense	23505					integral to membrane		g.chr2:98409923G>T	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.3480C>A	2.37:g.98409923G>T	ENSP00000186436:p.Asn1160Lys		Somatic					p.N1160K	NM_015348.1	NP_056163.1	WXS	Illumina GAIIx	Phase_I	Q92545	TM131_HUMAN			30	3708	-			1160						Missense_Mutation	SNP	ENST00000186436.5	37	c.3480C>A	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699956	0.68501	.	.	ENSG00000075568	ENST00000186436;ENST00000409721	T	0.30714	1.52	6.07	4.28	0.50868	.	0.191890	0.53938	D	0.000055	T	0.25269	0.0614	L	0.50333	1.59	0.80722	D	1	P	0.38922	0.651	B	0.32677	0.15	T	0.05566	-1.0877	10	0.41790	T	0.15	-25.7655	11.3611	0.49644	0.194:0.0:0.806:0.0	.	1160	Q92545	TM131_HUMAN	K	1160;77	ENSP00000186436:N1160K	ENSP00000186436:N1160K	N	-	3	2	TMEM131	97776355	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	4.430000	0.59907	1.587000	0.49959	-0.136000	0.14681	AAC		0.473	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		9	44	1	0	1.58986e-06	1	1.92219e-06	9	44				
MCM2	4171	broad.mit.edu	37	3	127327298	127327298	+	Missense_Mutation	SNP	G	G	A	rs144869999		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:127327298G>A	ENST00000265056.7	+	7	1419	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	392					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						CGGCTGCCCCGCTCCAAGGAC	0.607																																						ENST00000265056.7																			0				ovary(3)|skin(2)|stomach(1)	6						c.(1174-1176)cGc>cAc		minichromosome maintenance complex component 2		G	HIS/ARG	0,4406		0,0,2203	70.0	75.0	74.0		1175	5.3	1.0	3	dbSNP_134	74	2,8598	2.2+/-6.3	0,2,4298	no	missense	MCM2	NM_004526.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	392/905	127327298	2,13004	2203	4300	6503	SO:0001583	missense	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127327298G>A	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.1175G>A	3.37:g.127327298G>A	ENSP00000265056:p.Arg392His		Somatic					p.R392H	NM_004526.2	NP_004517.2	WXS	Illumina GAIIx	Phase_I	P49736	MCM2_HUMAN			7	1419	+			392					Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	c.1175G>A	CCDS3043.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.6|29.6	5.022940|5.022940	0.93462|0.93462	0.0|0.0	2.33E-4|2.33E-4	ENSG00000073111|ENSG00000073111	ENST00000491422|ENST00000265056;ENST00000539922;ENST00000543142	.|T	.|0.13196	.|2.61	5.31|5.31	5.31|5.31	0.75309|0.75309	.|Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.|0.147554	.|0.64402	.|D	.|0.000006	T|T	0.39759|0.39759	0.1090|0.1090	M|M	0.79123|0.79123	2.44|2.44	0.80722|0.80722	D|D	1|1	.|B;D;D	.|0.76494	.|0.054;0.999;0.997	.|B;D;P	.|0.65140	.|0.01;0.932;0.901	T|T	0.31447|0.31447	-0.9943|-0.9943	5|10	.|0.87932	.|D	.|0	-27.9452|-27.9452	18.9654|18.9654	0.92694|0.92694	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|373;262;392	.|F5H1E9;B4DSV5;P49736	.|.;.;MCM2_HUMAN	T|H	255|392;296;373	.|ENSP00000265056:R392H	.|ENSP00000265056:R392H	A|R	+|+	1|2	0|0	MCM2|MCM2	128809988|128809988	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.558000|7.558000	0.82253|0.82253	2.476000|2.476000	0.83614|0.83614	0.591000|0.591000	0.81541|0.81541	GCT|CGC		0.607	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			6	489	0	0	0	1	0	6	489				
LILRB4	11006	broad.mit.edu	37	19	55178153	55178153	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:55178153G>A	ENST00000391736.1	+	12	1309	c.994G>A	c.(994-996)Gcc>Acc	p.A332T	LILRB4_ENST00000391733.3_Missense_Mutation_p.A333T|LILRB4_ENST00000270452.2_Missense_Mutation_p.A332T|LILRB4_ENST00000430952.2_Missense_Mutation_p.A332T|LILRB4_ENST00000391734.3_Missense_Mutation_p.A332T	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	332					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AGCAGGTGCTGCCGTGAAGAA	0.612																																						ENST00000391736.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39						c.(994-996)Gcc>Acc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4							122.0	111.0	115.0					19																	55178153		2203	4300	6503	SO:0001583	missense	11006					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55178153G>A	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.994G>A	19.37:g.55178153G>A	ENSP00000375616:p.Ala332Thr		Somatic				LILRB4_ENST00000391733.3_Missense_Mutation_p.A333T|LILRB4_ENST00000270452.2_Missense_Mutation_p.A332T|LILRB4_ENST00000391734.3_Missense_Mutation_p.A332T|LILRB4_ENST00000430952.2_Missense_Mutation_p.A332T	p.A332T	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	WXS	Illumina GAIIx	Phase_I	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	12	1309	+			332					A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	c.994G>A	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	G	8.974	0.973686	0.18736	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.00542	7.04;7.04;7.03;6.96;7.06;6.69	1.6	0.53	0.17102	.	.	.	.	.	T	0.00845	0.0028	M	0.88979	2.995	0.09310	N	1	B;B;B;B;B	0.09022	0.002;0.001;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.001;0.002;0.001;0.002;0.001	T	0.40887	-0.9539	9	0.48119	T	0.1	.	3.7456	0.08547	0.2464:0.0:0.7536:0.0	.	332;331;333;332;332	A8MUE1;C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;.;LIRB4_HUMAN	T	332;332;332;332;333;331	ENSP00000375616:A332T;ENSP00000270452:A332T;ENSP00000408995:A332T;ENSP00000375614:A332T;ENSP00000375613:A333T;ENSP00000401962:A331T	ENSP00000270452:A332T	A	+	1	0	LILRB4	59869965	0.244000	0.23889	0.032000	0.17829	0.038000	0.13279	0.440000	0.21592	0.233000	0.21120	0.407000	0.27541	GCC		0.612	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			5	475	0	0	0	1	0	5	475				
OR10AD1	121275	broad.mit.edu	37	12	48596443	48596443	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:48596443G>A	ENST00000310248.2	-	1	727	c.633C>T	c.(631-633)ccC>ccT	p.P211P		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						TGAGCACCATGGGGCTGAGAA	0.547																																						ENST00000310248.2																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						c.(631-633)ccC>ccT		olfactory receptor, family 10, subfamily AD, member 1							83.0	70.0	75.0					12																	48596443		2203	4300	6503	SO:0001819	synonymous_variant	121275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48596443G>A		CCDS31787.1	12q13.11	2013-09-24	2002-11-13	2002-11-15	ENSG00000172640	ENSG00000172640		"""GPCR / Class A : Olfactory receptors"""	14819	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily AD, member 1 pseudogene"""	OR10AD1P			Standard	NM_001004134		Approved		uc001rrl.1	Q8NGE0	OTTHUMG00000168027	ENST00000310248.2:c.633C>T	12.37:g.48596443G>A			Somatic					p.P211P	NM_001004134.1	NP_001004134.1	WXS	Illumina GAIIx	Phase_I	Q8NGE0	O10AD_HUMAN			1	727	-			211					B9EGT9|Q6IFA8	Silent	SNP	ENST00000310248.2	37	c.633C>T	CCDS31787.1																																																																																				0.547	OR10AD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397577.1			6	358	0	0	0	1	0	6	358				
LILRA1	11024	broad.mit.edu	37	19	55106130	55106130	+	Splice_Site	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:55106130G>A	ENST00000251372.3	+	4	253	c.71G>A	c.(70-72)gGg>gAg	p.G24E	LILRA1_ENST00000453777.1_Splice_Site_p.G24E|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	24					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.G24E(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TTCCTTCCAGGGACCCTCCCC	0.587																																						ENST00000453777.1																			1	Substitution - Missense(1)	p.G24E(1)	central_nervous_system(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.e4-1		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1							55.0	59.0	57.0					19																	55106130		2203	4300	6503	SO:0001630	splice_region_variant	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106130G>A	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.71-1G>A	19.37:g.55106130G>A			Somatic				LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Splice_Site_p.G24_splice|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron	p.G24_splice	NM_001278318.1	NP_001265247.1	WXS	Illumina GAIIx	Phase_I	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	4	241	+			24					O75018|Q3MJA6	Splice_Site	SNP	ENST00000251372.3	37	c.70_splice	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	G	9.608	1.130539	0.21041	.	.	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.00527	6.82;6.79	1.58	1.58	0.23477	Immunoglobulin-like fold (1);	0.925333	0.08964	N	0.868253	T	0.00845	0.0028	M	0.64630	1.985	0.22511	N	0.999036	D;P	0.54601	0.967;0.717	P;B	0.52909	0.713;0.32	T	0.54497	-0.8285	9	.	.	.	.	6.6677	0.23050	0.0:0.0:1.0:0.0	.	24;24	O75019-2;O75019	.;LIRA1_HUMAN	E	24	ENSP00000251372:G24E;ENSP00000413715:G24E	.	G	+	2	0	LILRA1	59797942	0.010000	0.17322	0.735000	0.30896	0.025000	0.11179	-0.299000	0.08254	1.198000	0.43158	0.194000	0.17425	GGG		0.587	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863	Missense_Mutation	18	25	0	0	0	1	0	18	25				
SLC8A3	6547	broad.mit.edu	37	14	70530595	70530595	+	Intron	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:70530595C>A	ENST00000381269.2	-	3	2538				SLC8A3_ENST00000357887.3_Missense_Mutation_p.K612N|SLC8A3_ENST00000534137.1_Intron|SLC8A3_ENST00000356921.2_Intron|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000216568.7_Intron|SLC8A3_ENST00000533899.1_5'Flank|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000528359.1_Missense_Mutation_p.K612N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3						blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TGAAGTAATTCTTGTTTTTCT	0.403																																						ENST00000357887.3																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54						c.(1834-1836)aaG>aaT		solute carrier family 8 (sodium/calcium exchanger), member 3							211.0	173.0	186.0					14																	70530595		2203	4300	6503	SO:0001627	intron_variant	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70530595C>A	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1785-2939G>T	14.37:g.70530595C>A			Somatic				SLC8A3_ENST00000534137.1_Intron|SLC8A3_ENST00000528359.1_Missense_Mutation_p.K612N|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000381269.2_Intron|SLC8A3_ENST00000216568.7_Intron|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000356921.2_Intron	p.K612N	NM_033262.3	NP_150287.1	WXS	Illumina GAIIx	Phase_I	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	3	2589	-			612		E -> Q (in a breast cancer sample; somatic mutation).	Calx-beta 2.		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.1836G>T	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653070	0.67472	.	.	ENSG00000100678	ENST00000357887;ENST00000528359	T;T	0.29397	1.57;1.57	4.99	4.99	0.66335	.	.	.	.	.	T	0.41190	0.1148	M	0.82923	2.615	0.45995	D	0.998802	B	0.32800	0.385	B	0.31495	0.131	T	0.45323	-0.9269	9	0.44086	T	0.13	.	18.6294	0.91354	0.0:1.0:0.0:0.0	.	612	Q96QG2	.	N	612	ENSP00000350560:K612N;ENSP00000433531:K612N	ENSP00000350560:K612N	K	-	3	2	SLC8A3	69600348	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.666000	0.68059	2.456000	0.83038	0.557000	0.71058	AAG		0.403	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			5	545	1	0	0.217242	1	0.220711	5	545				
CP	1356	broad.mit.edu	37	3	148904372	148904372	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:148904372C>T	ENST00000264613.6	-	11	2274	c.2012G>A	c.(2011-2013)cGg>cAg	p.R671Q	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	671	F5/8 type A 2.|Plastocyanin-like 4.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TGTGTCTCTCCGTTCTCCTCT	0.458																																						ENST00000264613.6																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2011-2013)cGg>cAg		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						192.0	170.0	177.0					3																	148904372		2203	4300	6503	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148904372C>T	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2012G>A	3.37:g.148904372C>T	ENSP00000264613:p.Arg671Gln		Somatic				CP_ENST00000462336.1_5'UTR	p.R671Q	NM_000096.3	NP_000087.1	WXS	Illumina GAIIx	Phase_I	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		11	2274	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	671			F5/8 type A 2.|Plastocyanin-like 4.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.2012G>A	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.254354	0.39896	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.99797	-6.79;-6.79	5.91	1.99	0.26369	Cupredoxin (2);	0.137826	0.64402	D	0.000007	D	0.98966	0.9648	M	0.79123	2.44	0.31966	N	0.607735	P;P;P;P	0.50272	0.933;0.887;0.933;0.933	B;B;B;B	0.33799	0.17;0.12;0.17;0.17	D	0.96255	0.9186	10	0.52906	T	0.07	-9.8774	13.2971	0.60303	0.1165:0.5467:0.3368:0.0	.	671;671;671;671	A5PL27;A8K5A4;P00450;Q1L857	.;.;CERU_HUMAN;.	Q	671;454	ENSP00000264613:R671Q;ENSP00000420545:R454Q	ENSP00000264613:R671Q	R	-	2	0	CP	150387062	1.000000	0.71417	0.169000	0.22859	0.316000	0.28119	1.078000	0.30754	0.078000	0.16900	-0.165000	0.13383	CGG		0.458	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		6	316	0	0	0	1	0	6	316				
CCDC183	84960	broad.mit.edu	37	9	139699235	139699235	+	Missense_Mutation	SNP	C	C	A	rs376050386		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:139699235C>A	ENST00000338005.6	+	8	849	c.814C>A	c.(814-816)Ccc>Acc	p.P272T	KIAA1984_ENST00000371682.3_3'UTR|RP11-216L13.18_ENST00000471502.1_RNA|KIAA1984-AS1_ENST00000414656.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		272										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CTTGGACTTCCCCTCGAACCT	0.642																																						ENST00000338005.6																			0				biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.(814-816)Ccc>Acc		KIAA1984							75.0	85.0	82.0					9																	139699235		2073	4193	6266	SO:0001583	missense	84960							g.chr9:139699235C>A																												ENST00000338005.6:c.814C>A	9.37:g.139699235C>A	ENSP00000338013:p.Pro272Thr		Somatic				KIAA1984_ENST00000371682.3_3'UTR|KIAA1984-AS1_ENST00000414656.1_RNA	p.P272T	NM_001039374.4	NP_001034463.4	WXS	Illumina GAIIx	Phase_I	Q5T5S1	K1984_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)	8	849	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)	272					B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP	ENST00000338005.6	37	c.814C>A	CCDS43906.1	.	.	.	.	.	.	.	.	.	.	C	9.679	1.148818	0.21288	.	.	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.12465	2.68	3.7	-0.283	0.12874	.	0.357292	0.19871	U	0.104181	T	0.10465	0.0256	L	0.56769	1.78	0.38781	D	0.954778	B	0.20671	0.047	B	0.15484	0.013	T	0.21965	-1.0230	10	0.12766	T	0.61	-5.3465	6.3232	0.21229	0.0:0.4162:0.0:0.5838	.	272	Q5T5S1	K1984_HUMAN	T	272	ENSP00000338013:P272T	ENSP00000338013:P272T	P	+	1	0	KIAA1984	138819056	0.006000	0.16342	0.580000	0.28601	0.447000	0.32167	-0.468000	0.06656	0.044000	0.15775	0.561000	0.74099	CCC		0.642	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1			3	37	1	0	0.00909568	1	0.0097673	3	37				
MYOM1	8736	broad.mit.edu	37	18	3090749	3090749	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr18:3090749C>A	ENST00000356443.4	-	27	4249	c.3916G>T	c.(3916-3918)Gaa>Taa	p.E1306*	MYOM1_ENST00000400569.3_Nonsense_Mutation_p.E1306*|RNU7-25P_ENST00000516544.1_RNA|MYOM1_ENST00000261606.7_Nonsense_Mutation_p.E1210*	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1306					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGTAGCTTTTCCATGAACATT	0.378																																						ENST00000356443.4																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(3916-3918)Gaa>Taa		myomesin 1							196.0	184.0	188.0					18																	3090749		1941	4144	6085	SO:0001587	stop_gained	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3090749C>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.3916G>T	18.37:g.3090749C>A	ENSP00000348821:p.Glu1306*		Somatic				MYOM1_ENST00000261606.7_Nonsense_Mutation_p.E1210*|MYOM1_ENST00000400569.3_Nonsense_Mutation_p.E1306*	p.E1306*	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	WXS	Illumina GAIIx	Phase_I	P52179	MYOM1_HUMAN			27	4249	-			1306					Q14BD6|Q6H969|Q6ZUU0	Nonsense_Mutation	SNP	ENST00000356443.4	37	c.3916G>T	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	48	14.294323	0.99789	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	.	.	.	5.7	4.81	0.61882	.	0.211991	0.48767	D	0.000176	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	16.4814	0.84158	0.0:0.8687:0.1312:0.0	.	.	.	.	X	1306;1306;1210	.	ENSP00000261606:E1210X	E	-	1	0	MYOM1	3080749	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	7.818000	0.86416	1.368000	0.46115	0.591000	0.81541	GAA		0.378	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		63	327	1	0	5.80444e-35	1	8.29904e-35	63	327				
GUF1	60558	broad.mit.edu	37	4	44696434	44696434	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:44696434A>T	ENST00000281543.5	+	14	1813	c.1619A>T	c.(1618-1620)gAt>gTt	p.D540V	RP11-700J17.1_ENST00000610260.1_RNA|GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						TTTAGTTTTGATTACGAAGAT	0.343																																						ENST00000281543.5																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.(1618-1620)gAt>gTt		GUF1 GTPase homolog (S. cerevisiae)							84.0	86.0	85.0					4																	44696434		2203	4298	6501	SO:0001583	missense	60558				translation	mitochondrial inner membrane	GTP binding|GTPase activity	g.chr4:44696434A>T		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1619A>T	4.37:g.44696434A>T	ENSP00000281543:p.Asp540Val		Somatic				GUF1_ENST00000506793.1_3'UTR	p.D540V	NM_021927.2	NP_068746.2	WXS	Illumina GAIIx	Phase_I	Q8N442	GUF1_HUMAN			14	1813	+			540						Missense_Mutation	SNP	ENST00000281543.5	37	c.1619A>T	CCDS3468.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.215622	0.79352	.	.	ENSG00000151806	ENST00000281543	T	0.64085	-0.08	5.41	5.41	0.78517	Elongation factor G/III/V (1);Translation elongation factor EFG/EF2, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.83945	0.5364	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88299	0.2948	10	0.87932	D	0	-19.6991	14.6308	0.68655	1.0:0.0:0.0:0.0	.	540	Q8N442	GUF1_HUMAN	V	540	ENSP00000281543:D540V	ENSP00000281543:D540V	D	+	2	0	GUF1	44391191	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	8.881000	0.92415	2.055000	0.61198	0.482000	0.46254	GAT		0.343	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927		4	45	0	0	0	1	0	4	45				
PAPD7	11044	broad.mit.edu	37	5	6751279	6751279	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:6751279C>A	ENST00000230859.6	+	11	1367	c.1238C>A	c.(1237-1239)tCc>tAc	p.S413Y		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	643	PAP-associated.				double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCCACCACTTCCAGAACACTG	0.587																																					NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1237-1239)tCc>tAc		PAP associated domain containing 7							119.0	115.0	116.0					5																	6751279		2203	4300	6503	SO:0001583	missense	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6751279C>A	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1238C>A	5.37:g.6751279C>A	ENSP00000230859:p.Ser413Tyr		Somatic					p.S413Y	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	WXS	Illumina GAIIx	Phase_I	Q5XG87	PAPD7_HUMAN			11	1367	+			413					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	c.1238C>A	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.430951	0.43122	.	.	ENSG00000112941	ENST00000230859	T	0.34275	1.37	5.9	5.9	0.94986	.	0.388013	0.28533	N	0.015009	T	0.31606	0.0802	N	0.16478	0.41	0.33639	D	0.606982	B;B	0.28512	0.214;0.214	B;B	0.34873	0.191;0.191	T	0.45026	-0.9289	10	0.72032	D	0.01	-3.3499	18.4595	0.90734	0.0:1.0:0.0:0.0	.	413;413	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	Y	413	ENSP00000230859:S413Y	ENSP00000230859:S413Y	S	+	2	0	PAPD7	6804279	0.974000	0.33945	0.078000	0.20375	0.314000	0.28054	4.239000	0.58694	2.788000	0.95919	0.650000	0.86243	TCC		0.587	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		19	173	1	0	6.44725e-10	1	8.26612e-10	19	173				
HIPK3	10114	broad.mit.edu	37	11	33373738	33373738	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:33373738A>G	ENST00000303296.4	+	16	3403	c.3098A>G	c.(3097-3099)cAg>cGg	p.Q1033R	HIPK3_ENST00000379016.3_Missense_Mutation_p.Q1012R|HIPK3_ENST00000525975.1_Missense_Mutation_p.Q1012R|HIPK3_ENST00000456517.1_Missense_Mutation_p.Q1012R|AL122015.1_ENST00000411202.1_RNA	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1033					apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						AGATTAAACCAGCCTTCTGCA	0.403																																						ENST00000303296.4																			0				endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						c.(3097-3099)cAg>cGg		homeodomain interacting protein kinase 3							145.0	147.0	146.0					11																	33373738		2202	4298	6500	SO:0001583	missense	10114				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:33373738A>G	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.3098A>G	11.37:g.33373738A>G	ENSP00000304226:p.Gln1033Arg		Somatic				HIPK3_ENST00000525975.1_Missense_Mutation_p.Q1012R|HIPK3_ENST00000379016.3_Missense_Mutation_p.Q1012R|HIPK3_ENST00000456517.1_Missense_Mutation_p.Q1012R	p.Q1033R	NM_005734.3	NP_005725.3	WXS	Illumina GAIIx	Phase_I	Q9H422	HIPK3_HUMAN			16	3403	+			1033					O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	37	c.3098A>G	CCDS7884.1	.	.	.	.	.	.	.	.	.	.	A	12.89	2.074183	0.36566	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.51817	0.71;0.69;0.71;0.71	5.62	5.62	0.85841	.	0.000000	0.53938	D	0.000047	T	0.30885	0.0779	N	0.08118	0	0.43550	D	0.995855	B;B	0.28291	0.206;0.13	B;B	0.31614	0.133;0.09	T	0.15321	-1.0441	10	0.23302	T	0.38	.	15.82	0.78633	1.0:0.0:0.0:0.0	.	1012;1033	Q9H422-2;Q9H422	.;HIPK3_HUMAN	R	1012;1033;1012;1012	ENSP00000431710:Q1012R;ENSP00000304226:Q1033R;ENSP00000368301:Q1012R;ENSP00000398241:Q1012R	ENSP00000304226:Q1033R	Q	+	2	0	HIPK3	33330314	1.000000	0.71417	1.000000	0.80357	0.484000	0.33280	7.139000	0.77314	2.150000	0.67090	0.533000	0.62120	CAG		0.403	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	NM_005734		7	506	0	0	0	1	0	7	506				
SLC25A21	89874	broad.mit.edu	37	14	37194883	37194883	+	Splice_Site	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:37194883C>G	ENST00000331299.5	-	6	846		c.e6-1		SLC25A21_ENST00000555449.1_Splice_Site	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21						cellular nitrogen compound metabolic process (GO:0034641)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TGGCGAATGTCTAGAAAAATT	0.358																																						ENST00000331299.5																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9						c.e6-1		solute carrier family 25 (mitochondrial oxoadipate carrier), member 21							74.0	71.0	72.0					14																	37194883		2203	4300	6503	SO:0001630	splice_region_variant	89874				lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding	g.chr14:37194883C>G	AJ278148	CCDS9663.1, CCDS55913.1	14q13.3	2014-01-28	2012-03-29		ENSG00000183032	ENSG00000183032		"""Solute carriers"""	14411	protein-coding gene	gene with protein product		607571	"""solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21"""			11083877	Standard	NM_030631		Approved	ODC1, ODC	uc001wtz.2	Q9BQT8	OTTHUMG00000140250	ENST00000331299.5:c.331-1G>C	14.37:g.37194883C>G			Somatic				SLC25A21_ENST00000555449.1_Splice_Site		NM_030631.3	NP_085134.1	WXS	Illumina GAIIx	Phase_I	Q9BQT8	ODC_HUMAN	Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)	6	846	-	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)							A8K0L0|G3V4L5|Q3MJ99	Splice_Site	SNP	ENST00000331299.5	37		CCDS9663.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848068	0.51164	.	.	ENSG00000183032	ENST00000555449;ENST00000331299	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3324	0.94297	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC25A21	36264634	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	5.940000	0.70187	2.569000	0.86673	0.650000	0.86243	.		0.358	SLC25A21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276732.2	NM_030631	Intron	22	47	0	0	0	1	0	22	47				
ZNF106	64397	broad.mit.edu	37	15	42743241	42743241	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:42743241G>C	ENST00000263805.4	-	2	1486	c.1160C>G	c.(1159-1161)aCa>aGa	p.T387R	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	387					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CTGTATTCCTGTAGTTATCAA	0.388																																						ENST00000263805.4																			0											c.(1159-1161)aCa>aGa		zinc finger protein 106							235.0	228.0	230.0					15																	42743241		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42743241G>C	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.1160C>G	15.37:g.42743241G>C	ENSP00000263805:p.Thr387Arg		Somatic				ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	p.T387R	NM_022473.1	NP_071918.1	WXS	Illumina GAIIx	Phase_I					2	1486	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.1160C>G	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	G	1.150	-0.646954	0.03506	.	.	ENSG00000103994	ENST00000263805	T	0.54675	0.56	5.3	1.28	0.21552	.	1.481790	0.03824	N	0.267952	T	0.39036	0.1063	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.24728	-1.0152	10	0.48119	T	0.1	1.1646	5.2383	0.15458	0.2835:0.2545:0.4619:0.0	.	170;387	B4DGC7;Q9H2Y7	.;ZF106_HUMAN	R	387	ENSP00000263805:T387R	ENSP00000263805:T387R	T	-	2	0	ZFP106	40530533	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.066000	0.14489	0.081000	0.16988	-0.141000	0.14075	ACA		0.388	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		6	848	0	0	0	1	0	6	848				
ZNF614	80110	broad.mit.edu	37	19	52519551	52519551	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:52519551T>C	ENST00000270649.6	-	5	1844	c.1300A>G	c.(1300-1302)Aaa>Gaa	p.K434E	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	434					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)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GTGAAGCCTTTACCACATTCA	0.418																																						ENST00000270649.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(1300-1302)Aaa>Gaa		zinc finger protein 614							134.0	135.0	135.0					19																	52519551		2203	4300	6503	SO:0001583	missense	80110				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52519551T>C	BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.1300A>G	19.37:g.52519551T>C	ENSP00000270649:p.Lys434Glu		Somatic				ZNF614_ENST00000356322.6_Intron	p.K434E	NM_025040.3	NP_079316.2	WXS	Illumina GAIIx	Phase_I	Q8N883	ZN614_HUMAN		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1844	-		all_neural(266;0.0505)	434					Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	ENST00000270649.6	37	c.1300A>G	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.049731	0.75846	.	.	ENSG00000142556	ENST00000270649	T	0.27104	1.69	3.5	3.5	0.40072	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43809	0.1264	L	0.60957	1.885	0.23070	N	0.998347	D	0.71674	0.998	D	0.66497	0.944	T	0.16541	-1.0399	9	0.72032	D	0.01	.	11.1446	0.48424	0.0:0.0:0.0:1.0	.	434	Q8N883	ZN614_HUMAN	E	434	ENSP00000270649:K434E	ENSP00000270649:K434E	K	-	1	0	ZNF614	57211363	0.999000	0.42202	0.736000	0.30914	0.966000	0.64601	5.184000	0.65070	1.447000	0.47661	0.460000	0.39030	AAA		0.418	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		4	264	0	0	0	1	0	4	264				
A1CF	29974	broad.mit.edu	37	10	52575768	52575768	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:52575768C>A	ENST00000373993.1	-	7	1183	c.1139G>T	c.(1138-1140)aGa>aTa	p.R380I	A1CF_ENST00000374001.2_Missense_Mutation_p.R380I|A1CF_ENST00000373995.3_Missense_Mutation_p.R388I|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000395489.2_Missense_Mutation_p.R373I|A1CF_ENST00000373997.3_Missense_Mutation_p.R380I|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000395495.1_Missense_Mutation_p.R325I|A1CF_ENST00000282641.2_Missense_Mutation_p.R380I			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	380	Required for nuclear localization. {ECO:0000269|PubMed:12896982}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGTGTTACCTCTAACAGAAGG	0.458																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(1117-1119)aGa>aTa		APOBEC1 complementation factor							109.0	108.0	108.0					10																	52575768		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52575768C>A	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.1139G>T	10.37:g.52575768C>A	ENSP00000363105:p.Arg380Ile		Somatic				A1CF_ENST00000373995.3_Missense_Mutation_p.R388I|A1CF_ENST00000395495.1_Missense_Mutation_p.R325I|A1CF_ENST00000373993.1_Missense_Mutation_p.R380I|A1CF_ENST00000282641.2_Missense_Mutation_p.R380I|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.1_Missense_Mutation_p.R380I|A1CF_ENST00000373997.3_Missense_Mutation_p.R380I|A1CF_ENST00000493415.1_5'UTR	p.R373I	NM_001198819.1	NP_001185748.1	WXS	Illumina GAIIx	Phase_I	Q9NQ94	A1CF_HUMAN			11	1514	-			380			Required for nuclear localization.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.1118G>T	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855943	0.71834	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395495;ENST00000395488;ENST00000395489	T;T;T;T;T;T;T	0.16457	2.69;2.58;2.69;2.67;2.58;2.34;2.58	5.78	5.78	0.91487	.	0.044839	0.85682	D	0.000000	T	0.33030	0.0849	L	0.54323	1.7	0.80722	D	1	D;P;B;B	0.55605	0.972;0.8;0.328;0.1	P;B;B;B	0.57057	0.812;0.259;0.079;0.041	T	0.00276	-1.1855	10	0.38643	T	0.18	.	17.5056	0.87745	0.0:1.0:0.0:0.0	.	373;380;380;388	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	I	380;380;380;388;380;325;363;373	ENSP00000363113:R380I;ENSP00000363105:R380I;ENSP00000363109:R380I;ENSP00000363107:R388I;ENSP00000282641:R380I;ENSP00000378873:R325I;ENSP00000378868:R373I	ENSP00000282641:R380I	R	-	2	0	A1CF	52245774	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.263000	0.78421	2.742000	0.94016	0.650000	0.86243	AGA		0.458	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		15	129	1	0	2.32078e-09	1	2.9532e-09	15	129				
IGLV3-19	28797	broad.mit.edu	37	22	23063563	23063563	+	RNA	SNP	C	C	A	rs532332815	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr22:23063563C>A	ENST00000390309.2	+	0	310									immunoglobulin lambda variable 3-19																		ACACAGCTTCCTTGACCATCA	0.542													N|||	3	0.000599042	0.0	0.0	5008	,	,		16654	0.0		0.002	False		,,,				2504	0.001					ENST00000390309.2																			0																				63.0	66.0	65.0					22																	23063563		1946	4143	6089			28797							g.chr22:23063563C>A	X56178		22q11.2	2012-02-08			ENSG00000211663	ENSG00000211663		"""Immunoglobulins / IGL locus"""	5903	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151226		22.37:g.23063563C>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	310	+									RNA	SNP	ENST00000390309.2	37																																																																																						0.542	IGLV3-19-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321830.1	NG_000002		6	129	1	0	0.217242	1	0.220711	6	129				
UHRF1	29128	broad.mit.edu	37	19	4910785	4910785	+	RNA	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:4910785G>A	ENST00000592666.1	+	0	566							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GGAGTTTCCTGGTGTCCACAG	0.547											OREG0025176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000592666.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16								ubiquitin-like with PHD and ring finger domains 1																																						29128				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:4910785G>A	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4910785G>A			Somatic	OREG0025176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	622					WXS	Illumina GAIIx	Phase_I	Q96T88	UHRF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)	0	566	+								A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	ENST00000592666.1	37																																																																																						0.547	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		3	16	0	0	0	1	0	3	16				
COL5A3	50509	broad.mit.edu	37	19	10108791	10108791	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:10108791G>A	ENST00000264828.3	-	9	1230	c.1145C>T	c.(1144-1146)gCa>gTa	p.A382V	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	382	Nonhelical region.				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)			TTCAATCACTGCGGGCTCTCC	0.537																																						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.(1144-1146)gCa>gTa		collagen, type V, alpha 3							244.0	228.0	233.0					19																	10108791		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10108791G>A	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.1145C>T	19.37:g.10108791G>A	ENSP00000264828:p.Ala382Val		Somatic					p.A382V	NM_015719.3	NP_056534.2	WXS	Illumina GAIIx	Phase_I	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		9	1230	-			382			Nonhelical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.1145C>T	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.213504	0.79352	.	.	ENSG00000080573	ENST00000264828	D	0.90324	-2.65	4.75	4.75	0.60458	.	0.074578	0.52532	D	0.000068	D	0.94801	0.8321	M	0.80616	2.505	0.52099	D	0.999945	D	0.76494	0.999	D	0.87578	0.998	D	0.94449	0.7665	10	0.49607	T	0.09	.	13.1677	0.59581	0.0:0.0:1.0:0.0	.	382	P25940	CO5A3_HUMAN	V	382	ENSP00000264828:A382V	ENSP00000264828:A382V	A	-	2	0	COL5A3	9969791	0.996000	0.38824	0.095000	0.20976	0.743000	0.42351	3.264000	0.51553	2.497000	0.84241	0.306000	0.20318	GCA		0.537	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		10	1146	0	0	0	1	0	10	1146				
GLI3	2737	broad.mit.edu	37	7	42079650	42079650	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:42079650C>T	ENST00000395925.3	-	7	1099	c.1015G>A	c.(1015-1017)Gca>Aca	p.A339T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	339					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATTGCACTTGCAGATAAGTGA	0.418									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(1015-1017)Gca>Aca		GLI family zinc finger 3							122.0	112.0	115.0					7																	42079650		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42079650C>T		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1015G>A	7.37:g.42079650C>T	ENSP00000379258:p.Ala339Thr		Somatic				GLI3_ENST00000479210.1_5'UTR	p.A339T	NM_000168.5	NP_000159.3	WXS	Illumina GAIIx	Phase_I	P10071	GLI3_HUMAN			7	1099	-			339					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.1015G>A	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011539	0.93346	.	.	ENSG00000106571	ENST00000395925	T	0.22945	1.93	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.54447	0.1859	M	0.80616	2.505	0.80722	D	1	D	0.67145	0.996	D	0.64506	0.926	T	0.57394	-0.7819	10	0.62326	D	0.03	.	19.6584	0.95853	0.0:1.0:0.0:0.0	.	339	P10071	GLI3_HUMAN	T	339	ENSP00000379258:A339T	ENSP00000379258:A339T	A	-	1	0	GLI3	42046175	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.809000	0.86057	2.646000	0.89796	0.655000	0.94253	GCA		0.418	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		5	182	0	0	0	1	0	5	182				
DNAH9	1770	broad.mit.edu	37	17	11784722	11784722	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:11784722C>A	ENST00000262442.4	+	55	10866	c.10798C>A	c.(10798-10800)Cag>Aag	p.Q3600K	DNAH9_ENST00000608377.1_5'Flank|DNAH9_ENST00000454412.2_Missense_Mutation_p.Q3600K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3600	AAA 5. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGACTTGGAGCAGCTGAAGGT	0.587																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(10798-10800)Cag>Aag		dynein, axonemal, heavy chain 9							38.0	34.0	36.0					17																	11784722		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11784722C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.10798C>A	17.37:g.11784722C>A	ENSP00000262442:p.Gln3600Lys		Somatic				DNAH9_ENST00000454412.2_Missense_Mutation_p.Q3600K	p.Q3600K	NM_001372.3	NP_001363.2	WXS	Illumina GAIIx	Phase_I	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	55	10866	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3600			AAA 5 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.10798C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	7.492	0.650792	0.14516	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.21191	2.02;2.02	5.06	1.73	0.24493	.	0.406001	0.27744	N	0.018025	T	0.07143	0.0181	N	0.03238	-0.38	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.26744	-1.0094	10	0.06625	T	0.88	.	9.6024	0.39612	0.2062:0.5463:0.2475:0.0	.	3600	Q9NYC9	DYH9_HUMAN	K	3600;3600;2182	ENSP00000262442:Q3600K;ENSP00000414874:Q3600K	ENSP00000262442:Q3600K	Q	+	1	0	DNAH9	11725447	0.995000	0.38212	1.000000	0.80357	0.930000	0.56654	0.683000	0.25349	0.802000	0.34089	0.655000	0.94253	CAG		0.587	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		14	38	1	0	4.7546e-09	1	6.02013e-09	14	38				
PPP6C	5537	broad.mit.edu	37	9	127951918	127951918	+	Intron	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:127951918C>A	ENST00000373547.4	-	1	175				PPP6C_ENST00000415905.1_Intron|PPP6C_ENST00000373546.3_Intron|PPP6C_ENST00000451402.1_Missense_Mutation_p.S27I	NM_002721.4	NP_002712.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit						G1/S transition of mitotic cell cycle (GO:0000082)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						GCAAATAGGGCTCACCTTCAG	0.632																																						ENST00000451402.1																			0				NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						c.(79-81)aGc>aTc		protein phosphatase 6, catalytic subunit							35.0	40.0	38.0					9																	127951918		2203	4300	6503	SO:0001627	intron_variant	5537				G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr9:127951918C>A	AF035158	CCDS6861.1, CCDS48018.1, CCDS48019.1	9q33.3	2010-03-17			ENSG00000119414	ENSG00000119414		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9323	protein-coding gene	gene with protein product		612725				9143513	Standard	NM_002721		Approved	PP6	uc004bpg.4	O00743	OTTHUMG00000020671	ENST00000373547.4:c.75+4G>T	9.37:g.127951918C>A			Somatic				PPP6C_ENST00000373546.3_Intron|PPP6C_ENST00000373547.4_Intron|PPP6C_ENST00000415905.1_Intron	p.S27I	NM_001123355.1	NP_001116827.1	WXS	Illumina GAIIx	Phase_I	O00743	PPP6_HUMAN			1	300	-			25					B2R5V6|B7Z2W9|B7Z5K9|Q5U0A2|Q9UIC9	Missense_Mutation	SNP	ENST00000373547.4	37	c.80G>T	CCDS6861.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462037	0.43736	.	.	ENSG00000119414	ENST00000451402	T	0.18502	2.21	3.16	3.16	0.36331	.	.	.	.	.	T	0.10337	0.0253	.	.	.	0.80722	D	1	B	0.30361	0.277	B	0.23275	0.045	T	0.16660	-1.0395	8	0.25106	T	0.35	.	10.0883	0.42432	0.0:1.0:0.0:0.0	.	27	O00743-3	.	I	27	ENSP00000392147:S27I	ENSP00000392147:S27I	S	-	2	0	PPP6C	126991739	1.000000	0.71417	0.619000	0.29118	0.749000	0.42624	5.424000	0.66464	2.108000	0.64289	0.591000	0.81541	AGC		0.632	PPP6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054060.1	NM_016294		38	114	1	0	1.81118e-26	1	2.53965e-26	38	114				
HECTD4	283450	broad.mit.edu	37	12	112696345	112696345	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:112696345G>A	ENST00000430131.2	-	19	2932	c.1787C>T	c.(1786-1788)cCg>cTg	p.P596L	RP3-521E19.2_ENST00000547401.1_RNA|HECTD4_ENST00000377560.5_Missense_Mutation_p.P846L|HECTD4_ENST00000550722.1_Missense_Mutation_p.P882L			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	596					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)										TGCACCACACGGGGAACAGCC	0.498																																						ENST00000550722.1																			0											c.(2644-2646)cCg>cTg		HECT domain containing E3 ubiquitin protein ligase 4							138.0	128.0	131.0					12																	112696345		2203	4300	6503	SO:0001583	missense	283450							g.chr12:112696345G>A	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.1787C>T	12.37:g.112696345G>A	ENSP00000404379:p.Pro596Leu		Somatic				HECTD4_ENST00000377560.5_Missense_Mutation_p.P846L|HECTD4_ENST00000430131.2_Missense_Mutation_p.P596L|RP3-521E19.2_ENST00000547401.1_RNA	p.P882L	NM_001109662.3	NP_001103132.3	WXS	Illumina GAIIx	Phase_I					20	3040	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.2645C>T		.	.	.	.	.	.	.	.	.	.	G	19.92	3.915902	0.73098	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000547352	T;T;T	0.44083	0.93;0.93;0.93	5.31	5.31	0.75309	.	0.187547	0.47455	D	0.000230	T	0.27169	0.0666	N	0.14661	0.345	0.58432	D	0.999994	P;P;P	0.39920	0.695;0.569;0.695	B;B;B	0.29077	0.098;0.045;0.098	T	0.24261	-1.0165	10	0.87932	D	0	.	19.0167	0.92897	0.0:0.0:1.0:0.0	.	596;596;596	Q9Y4D8-2;Q9Y4D8;Q9Y4D8-3	.;K0614_HUMAN;.	L	846;596;882;90	ENSP00000366783:P846L;ENSP00000404379:P596L;ENSP00000449784:P882L	ENSP00000366783:P846L	P	-	2	0	C12orf51	111180728	1.000000	0.71417	0.988000	0.46212	0.979000	0.70002	4.539000	0.60657	2.484000	0.83849	0.655000	0.94253	CCG		0.498	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		4	462	0	0	0	1	0	4	462				
HYDIN	54768	broad.mit.edu	37	16	71103317	71103317	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:71103317G>A	ENST00000393567.2	-	14	1977	c.1827C>T	c.(1825-1827)ggC>ggT	p.G609G	HYDIN_ENST00000393550.2_Silent_p.G624G|HYDIN_ENST00000543639.1_5'UTR|HYDIN_ENST00000448691.1_Silent_p.G609G|HYDIN_ENST00000538248.1_Silent_p.G636G|HYDIN_ENST00000541601.1_Silent_p.G626G|HYDIN_ENST00000321489.5_Silent_p.G609G|HYDIN_ENST00000288168.10_Silent_p.G626G|HYDIN_ENST00000448089.2_Silent_p.G609G	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	609					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGCTTTTATGGCCAAGGCCAT	0.413																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(1825-1827)ggC>ggT		HYDIN, axonemal central pair apparatus protein							63.0	63.0	63.0					16																	71103317		2196	4297	6493	SO:0001819	synonymous_variant	54768							g.chr16:71103317G>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.1827C>T	16.37:g.71103317G>A			Somatic				HYDIN_ENST00000541601.1_Silent_p.G626G|HYDIN_ENST00000538248.1_Silent_p.G636G|HYDIN_ENST00000448691.1_Silent_p.G609G|HYDIN_ENST00000448089.2_Silent_p.G609G|HYDIN_ENST00000393550.2_Silent_p.G624G|HYDIN_ENST00000288168.10_Silent_p.G626G|HYDIN_ENST00000321489.5_Silent_p.G609G|HYDIN_ENST00000543639.1_5'UTR	p.G609G	NM_001270974.1	NP_001257903.1	WXS	Illumina GAIIx	Phase_I	Q4G0P3	HYDIN_HUMAN			14	1977	-		Ovarian(137;0.0654)	609					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.1827C>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	1.850	-0.465238	0.04476	.	.	ENSG00000157423	ENST00000542890	.	.	.	4.98	1.56	0.23342	.	.	.	.	.	T	0.54581	0.1867	.	.	.	0.43863	D	0.99646	.	.	.	.	.	.	T	0.46162	-0.9211	4	.	.	.	.	7.1896	0.25818	0.0:0.3816:0.2948:0.3236	.	.	.	.	V	11	.	.	A	-	2	0	HYDIN	69660818	0.004000	0.15560	0.033000	0.17914	0.422000	0.31414	0.012000	0.13287	0.508000	0.28173	0.537000	0.68136	GCC		0.413	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			5	204	0	0	0	1	0	5	204				
ITIH3	3699	broad.mit.edu	37	3	52830849	52830849	+	Missense_Mutation	SNP	G	G	A	rs184879946		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:52830849G>A	ENST00000449956.2	+	4	382	c.376G>A	c.(376-378)Ggc>Agc	p.G126S	ITIH3_ENST00000416872.2_Missense_Mutation_p.G126S	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	126	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CAAGACGGCCGGCTTGGTCAA	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		21924	0.001		0.0	False		,,,				2504	0.0					ENST00000449956.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(376-378)Ggc>Agc		inter-alpha-trypsin inhibitor heavy chain 3		G	SER/GLY	0,3910		0,0,1955	48.0	48.0	48.0		376	4.9	0.1	3		48	1,8309		0,1,4154	no	missense	ITIH3	NM_002217.3	56	0,1,6109	AA,AG,GG		0.012,0.0,0.0082	probably-damaging	126/891	52830849	1,12219	1955	4155	6110	SO:0001583	missense	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52830849G>A		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.376G>A	3.37:g.52830849G>A	ENSP00000415769:p.Gly126Ser		Somatic				ITIH3_ENST00000416872.2_Missense_Mutation_p.G126S	p.G126S	NM_002217.3	NP_002208.3	WXS	Illumina GAIIx	Phase_I	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	4	382	+			126			VIT.		Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	c.376G>A	CCDS46845.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.46	3.395883	0.62177	0.0	1.2E-4	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.22539	1.95;1.95	4.88	4.88	0.63580	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.000000	0.85682	D	0.000000	T	0.42988	0.1227	M	0.64080	1.96	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.12553	-1.0543	10	0.38643	T	0.18	-22.3638	15.0538	0.71897	0.0:0.0:1.0:0.0	.	126;126	E7ET33;Q06033	.;ITIH3_HUMAN	S	126;126;121;126;126	ENSP00000413922:G126S;ENSP00000415769:G126S	ENSP00000273291:G121S	G	+	1	0	ITIH3	52805889	1.000000	0.71417	0.124000	0.21820	0.003000	0.03518	8.917000	0.92751	2.513000	0.84729	0.655000	0.94253	GGC		0.517	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		3	94	0	0	0	1	0	3	94				
KRT72	140807	broad.mit.edu	37	12	52979842	52979842	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:52979842C>A	ENST00000537672.2	-	9	1470	c.1460G>T	c.(1459-1461)aGc>aTc	p.S487I	KRT72_ENST00000293745.2_Missense_Mutation_p.S487I|KRT72_ENST00000398066.3_Missense_Mutation_p.S299I|KRT72_ENST00000354310.4_Missense_Mutation_p.S445I	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	487	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		ACTGCCACAGCTGCCTTTGGT	0.567																																						ENST00000293745.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36						c.(1459-1461)aGc>aTc		keratin 72							129.0	116.0	120.0					12																	52979842		2203	4300	6503	SO:0001583	missense	140807					keratin filament	structural molecule activity	g.chr12:52979842C>A	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1460G>T	12.37:g.52979842C>A	ENSP00000441160:p.Ser487Ile		Somatic				KRT72_ENST00000537672.2_Missense_Mutation_p.S487I|KRT72_ENST00000354310.4_Missense_Mutation_p.S445I|KRT72_ENST00000398066.3_Missense_Mutation_p.S299I	p.S487I	NM_080747.2	NP_542785.1	WXS	Illumina GAIIx	Phase_I	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	9	1545	-			487			Tail.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	c.1460G>T	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470575	0.43942	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310;ENST00000398066	D;D;D;T	0.83506	-1.61;-1.61;-1.73;-1.34	4.3	2.47	0.30058	.	0.247787	0.28521	N	0.015048	T	0.66645	0.2810	N	0.08118	0	0.26665	N	0.971837	P;B	0.37864	0.61;0.255	B;B	0.41988	0.372;0.157	T	0.58853	-0.7563	10	0.34782	T	0.22	.	6.7859	0.23673	0.0:0.7852:0.0:0.2148	.	445;487	B4DEI8;Q14CN4	.;K2C72_HUMAN	I	487;487;445;299	ENSP00000441160:S487I;ENSP00000293745:S487I;ENSP00000346269:S445I;ENSP00000446151:S299I	ENSP00000293745:S487I	S	-	2	0	KRT72	51266109	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.199000	0.32235	0.583000	0.29574	0.638000	0.83543	AGC		0.567	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		35	1134	1	0	7.41877e-09	1	9.30088e-09	35	1134				
PTENP1	11191	broad.mit.edu	37	9	33676633	33676633	+	RNA	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:33676633T>C	ENST00000532280.1	-	0	864					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		AACGATCTCTTTGATGATGGC	0.463																																						ENST00000532280.1																			0																																																			11191							g.chr9:33676633T>C	AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33676633T>C			Somatic						NR_023917.1		WXS	Illumina GAIIx	Phase_I					0	864	-									RNA	SNP	ENST00000532280.1	37																																																																																						0.463	PTENP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395145.1	NR_023917		3	137	0	0	0	1	0	3	137				
FLT3	2322	broad.mit.edu	37	13	28592645	28592645	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr13:28592645G>A	ENST00000241453.7	-	20	2581	c.2500C>T	c.(2500-2502)Cga>Tga	p.R834*	FLT3_ENST00000380982.4_Nonsense_Mutation_p.R834*|FLT3_ENST00000537084.1_Intron	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	834	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R834_D835del(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGATATCTCGAGCCAATCCA	0.453			"""Mis, O"""		"""AML, ALL"""																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"""Mis, O"""	fms-related tyrosine kinase 3			L			"""AML, ALL"""		1	Deletion - In frame(1)	p.R834_D835del(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(2500-2502)Cga>Tga		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						189.0	142.0	158.0					13																	28592645		2203	4300	6503	SO:0001587	stop_gained	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28592645G>A	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2500C>T	13.37:g.28592645G>A	ENSP00000241453:p.Arg834*		Somatic				FLT3_ENST00000241453.7_Nonsense_Mutation_p.R834*|FLT3_ENST00000537084.1_Intron	p.R834*			WXS	Illumina GAIIx	Phase_I	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	20	2581	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	834			Protein kinase.		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Nonsense_Mutation	SNP	ENST00000241453.7	37	c.2500C>T	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	G	40	8.517642	0.98845	.	.	ENSG00000122025	ENST00000241453;ENST00000380982	.	.	.	5.84	4.92	0.64577	.	0.000000	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5869	0.50923	0.0:0.0:0.6168:0.3832	.	.	.	.	X	834	.	ENSP00000241453:R834X	R	-	1	2	FLT3	27490645	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.082000	0.41605	2.792000	0.96026	0.556000	0.70494	CGA		0.453	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			4	72	0	0	0	1	0	4	72				
APOA2	336	broad.mit.edu	37	1	161192276	161192276	+	Silent	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:161192276G>T	ENST00000367990.3	-	4	279	c.222C>A	c.(220-222)ccC>ccA	p.P74P	APOA2_ENST00000464492.1_Silent_p.P107P|APOA2_ENST00000468465.1_Silent_p.P26P|APOA2_ENST00000463812.1_Silent_p.P26P|APOA2_ENST00000491350.1_3'UTR|AL590714.1_ENST00000594609.1_Missense_Mutation_p.G71W|APOA2_ENST00000470459.2_Intron	NM_001643.1	NP_001634.1	P02652	APOA2_HUMAN	apolipoprotein A-II	74					acute inflammatory response (GO:0002526)|cellular lipid metabolic process (GO:0044255)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol import (GO:0060621)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cholesterol transporter activity (GO:0060695)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of lipase activity (GO:0060192)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|organ regeneration (GO:0031100)|peptidyl-methionine modification (GO:0018206)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid catabolic process (GO:0009395)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of lipid catabolic process (GO:0050996)|protein folding (GO:0006457)|protein oxidation (GO:0018158)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of protein stability (GO:0031647)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|viral process (GO:0016032)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein receptor binding (GO:0034190)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor binding (GO:0070653)|lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCTTGATCAGGGGTGTCAGCT	0.507																																						ENST00000594609.1																			0											c.(211-213)Ggg>Tgg									218.0	200.0	206.0					1																	161192276		2203	4300	6503	SO:0001819	synonymous_variant	336							g.chr1:161192276G>T		CCDS1226.1	1q23.3	2013-01-24			ENSG00000158874	ENSG00000158874		"""Apolipoproteins"""	601	protein-coding gene	gene with protein product		107670				2415515	Standard	NM_001643		Approved		uc001fzc.1	P02652	OTTHUMG00000034346	ENST00000367990.3:c.222C>A	1.37:g.161192276G>T			Somatic				APOA2_ENST00000481413.1_5'UTR|APOA2_ENST00000367990.3_Silent_p.P74P	p.G71W			WXS	Illumina GAIIx	Phase_I					2	211	+								B2R524	Missense_Mutation	SNP	ENST00000367990.3	37	c.211G>T	CCDS1226.1																																																																																				0.507	APOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083037.1	NM_001643		9	924	1	0	7.48243e-07	1	9.08963e-07	9	924				
NDUFA1	4694	broad.mit.edu	37	X	119005930	119005930	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:119005930C>T	ENST00000371437.4	+	1	481	c.56C>T	c.(55-57)cCa>cTa	p.P19L	RNF113A_ENST00000371442.2_5'Flank	NM_004541.3	NP_004532.1	O15239	NDUA1_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa	19					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(1)|large_intestine(2)|stomach(1)	5						TTGTTGATTCCAGGACTGGCT	0.587																																						ENST00000371437.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|stomach(1)	5						c.(55-57)cCa>cTa		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa	NADH(DB00157)						167.0	138.0	148.0					X																	119005930		2203	4300	6503	SO:0001583	missense	4694				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrX:119005930C>T		CCDS14590.1	Xq24	2011-07-04	2002-08-29		ENSG00000125356	ENSG00000125356		"""Mitochondrial respiratory chain complex / Complex I"""	7683	protein-coding gene	gene with protein product	"""NADH:ubiquinone oxidoreductase (complex 1)"", ""type I dehydrogenase"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)"", ""complex I MWFE subunit"""	300078	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)"""			8938439	Standard	NM_004541		Approved	MWFE, CI-MWFE	uc004esc.4	O15239	OTTHUMG00000022287	ENST00000371437.4:c.56C>T	X.37:g.119005930C>T	ENSP00000360492:p.Pro19Leu		Somatic					p.P19L	NM_004541.3	NP_004532.1	WXS	Illumina GAIIx	Phase_I	O15239	NDUA1_HUMAN			1	481	+			19						Missense_Mutation	SNP	ENST00000371437.4	37	c.56C>T	CCDS14590.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.108467	0.56291	.	.	ENSG00000125356	ENST00000371437	T	0.80738	-1.41	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.89550	0.6747	.	.	.	0.58432	D	0.999993	D	0.89917	1.0	D	0.87578	0.998	D	0.90785	0.4682	9	0.87932	D	0	-16.7957	13.8682	0.63600	0.0:1.0:0.0:0.0	.	19	O15239	NDUA1_HUMAN	L	19	ENSP00000360492:P19L	ENSP00000360492:P19L	P	+	2	0	NDUFA1	118889958	0.991000	0.36638	0.227000	0.23927	0.008000	0.06430	5.083000	0.64456	2.346000	0.79739	0.600000	0.82982	CCA		0.587	NDUFA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058080.1	NM_004541		4	119	0	0	0	1	0	4	119				
PLA2G4F	255189	broad.mit.edu	37	15	42437859	42437859	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:42437859G>C	ENST00000382396.4	-	16	1780	c.1694C>G	c.(1693-1695)gCc>gGc	p.A565G	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.A567G			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	565	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CAGGCTGGTGGCAAAGGCGCT	0.647																																						ENST00000397272.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1699-1701)gCc>gGc		phospholipase A2, group IVF							72.0	76.0	75.0					15																	42437859		2203	4299	6502	SO:0001583	missense	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42437859G>C		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1694C>G	15.37:g.42437859G>C	ENSP00000371833:p.Ala565Gly		Somatic				PLA2G4F_ENST00000382396.4_Missense_Mutation_p.A565G	p.A567G	NM_213600.3	NP_998765.3	WXS	Illumina GAIIx	Phase_I	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	16	1791	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	565			PLA2c.		Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	c.1700C>G	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.416579	0.62511	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000443825	T;T	0.12672	2.66;2.66	5.0	5.0	0.66597	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.000000	0.51477	D	0.000091	T	0.33206	0.0855	L	0.48642	1.525	0.48696	D	0.999699	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.03335	-1.1047	10	0.72032	D	0.01	-14.3824	18.6782	0.91537	0.0:0.0:1.0:0.0	.	352;565	A2RRC4;Q68DD2	.;PA24F_HUMAN	G	561;567;565;565	ENSP00000380442:A567G;ENSP00000371833:A565G	ENSP00000290497:A561G	A	-	2	0	PLA2G4F	40225151	1.000000	0.71417	0.977000	0.42913	0.045000	0.14185	7.263000	0.78421	2.499000	0.84300	0.484000	0.47621	GCC		0.647	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		4	39	0	0	0	1	0	4	39				
ANGPT1	284	broad.mit.edu	37	8	108276471	108276471	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:108276471T>C	ENST00000520734.1	-	7	999	c.714A>G	c.(712-714)aaA>aaG	p.K238K	ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Silent_p.K237K			Q15389	ANGP1_HUMAN	angiopoietin 1	438					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TGAGGGCACATTTGCACATAC	0.433																																						ENST00000520734.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43						c.(712-714)aaA>aaG		angiopoietin 1							134.0	113.0	120.0					8																	108276471		2203	4300	6503	SO:0001819	synonymous_variant	284				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	g.chr8:108276471T>C	D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"""Fibrinogen C domain containing"""	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.714A>G	8.37:g.108276471T>C			Somatic				ANGPT1_ENST00000520052.1_Silent_p.K237K|ANGPT1_ENST00000518386.1_5'UTR	p.K238K			WXS	Illumina GAIIx	Phase_I	Q15389	ANGP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		7	999	-	Breast(1;5.06e-08)		438					Q5HYA0	Silent	SNP	ENST00000520734.1	37	c.714A>G																																																																																					0.433	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		10	75	0	0	0	1	0	10	75				
MAGEC3	139081	broad.mit.edu	37	X	140985617	140985617	+	Nonstop_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:140985617G>T	ENST00000298296.1	+	8	1931	c.1931G>T	c.(1930-1932)tGa>tTa	p.*644L	MAGEC3_ENST00000544766.1_3'UTR|MAGEC3_ENST00000443323.2_3'UTR|MAGEC3_ENST00000409007.1_3'UTR|MAGEC3_ENST00000536088.1_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	0										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TGTCCTGAGTGATGTCTGAAG	0.537																																						ENST00000298296.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(1930-1932)tGa>tTa		melanoma antigen family C, 3							50.0	43.0	45.0					X																	140985617		2201	4295	6496	SO:0001578	stop_lost	139081							g.chrX:140985617G>T	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1931G>T	X.37:g.140985617G>T	ENSP00000298296:p.*644Leuext*?		Somatic				MAGEC3_ENST00000544766.1_3'UTR|MAGEC3_ENST00000443323.2_3'UTR|MAGEC3_ENST00000536088.1_3'UTR|MAGEC3_ENST00000409007.1_3'UTR	p.*644L	NM_138702.1	NP_619647.1	WXS	Illumina GAIIx	Phase_I	Q8TD91	MAGC3_HUMAN			8	1931	+	Acute lymphoblastic leukemia(192;6.56e-05)		0					Q3SYA7|Q5JZ43|Q9BZ80	Nonstop_Mutation	SNP	ENST00000298296.1	37	c.1931G>T	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	g	4.786	0.146060	0.09134	.	.	ENSG00000165509	ENST00000298296	.	.	.	1.03	-0.171	0.13331	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.3442	0.11124	0.0:0.4308:0.5692:0.0	.	.	.	.	L	644	.	.	X	+	2	2	MAGEC3	140813283	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.206000	0.09398	-0.101000	0.12219	0.284000	0.19432	TGA		0.537	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		5	435	1	0	1.23904e-05	1	1.45652e-05	5	435				
NOTCH2	4853	broad.mit.edu	37	1	120466571	120466571	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:120466571G>T	ENST00000256646.2	-	26	4767	c.4548C>A	c.(4546-4548)aaC>aaA	p.N1516K	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1516	Negative regulatory region (NRR).				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGTCACAGTGGTTGTCTTTGA	0.502			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(4546-4548)aaC>aaA		notch 2							91.0	74.0	79.0					1																	120466571		2203	4300	6503	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120466571G>T	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.4548C>A	1.37:g.120466571G>T	ENSP00000256646:p.Asn1516Lys		Somatic					p.N1516K	NM_024408.3	NP_077719.2	WXS	Illumina GAIIx	Phase_I	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	26	4767	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1516			Negative regulatory region (NRR).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.4548C>A	CCDS908.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561485	0.45590	.	.	ENSG00000134250	ENST00000256646	D	0.89746	-2.56	6.08	5.16	0.70880	Notch domain (4);	0.000000	0.41194	U	0.000938	T	0.65396	0.2687	N	0.12182	0.205	0.31007	N	0.719694	B	0.10296	0.003	B	0.13407	0.009	T	0.60146	-0.7320	10	0.54805	T	0.06	.	8.1177	0.30953	0.1403:0.1309:0.7289:0.0	.	1516	Q04721	NOTC2_HUMAN	K	1516	ENSP00000256646:N1516K	ENSP00000256646:N1516K	N	-	3	2	NOTCH2	120268094	0.984000	0.35163	1.000000	0.80357	0.999000	0.98932	0.099000	0.15210	1.558000	0.49541	0.655000	0.94253	AAC		0.502	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		13	69	1	0	7.93312e-07	1	9.61419e-07	13	69				
PHC1	1911	broad.mit.edu	37	12	9086983	9086983	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:9086983A>G	ENST00000543824.1	+	11	2494	c.2162A>G	c.(2161-2163)gAc>gGc	p.D721G	PHC1_ENST00000433083.2_Missense_Mutation_p.D676G|PHC1_ENST00000536844.1_Missense_Mutation_p.D327G|PHC1_ENST00000544916.1_Missense_Mutation_p.D721G			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	721					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CAAATGGGTGACTCAAAACCC	0.522																																						ENST00000433083.2																			0				breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(2026-2028)gAc>gGc		polyhomeotic homolog 1 (Drosophila)							69.0	68.0	68.0					12																	9086983		2202	4280	6482	SO:0001583	missense	1911				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr12:9086983A>G	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.2162A>G	12.37:g.9086983A>G	ENSP00000440674:p.Asp721Gly		Somatic				PHC1_ENST00000544916.1_Missense_Mutation_p.D721G|PHC1_ENST00000543824.1_Missense_Mutation_p.D721G|PHC1_ENST00000536844.1_Missense_Mutation_p.D327G	p.D676G			WXS	Illumina GAIIx	Phase_I	P78364	PHC1_HUMAN			9	2172	+			721					D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	ENST00000543824.1	37	c.2027A>G	CCDS8597.1	.	.	.	.	.	.	.	.	.	.	A	9.978	1.227375	0.22542	.	.	ENSG00000111752	ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000536844	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.49643	0.1569	L	0.46157	1.445	0.51767	D	0.999939	B	0.22080	0.064	B	0.20184	0.028	T	0.47711	-0.9096	10	0.87932	D	0	-28.6761	16.0051	0.80357	1.0:0.0:0.0:0.0	.	721	P78364	PHC1_HUMAN	G	721;721;676;721;327	ENSP00000440674:D721G;ENSP00000251757:D721G;ENSP00000399194:D676G;ENSP00000437659:D721G;ENSP00000440488:D327G	ENSP00000251757:D721G	D	+	2	0	PHC1	8978250	1.000000	0.71417	0.995000	0.50966	0.028000	0.11728	6.362000	0.73077	2.269000	0.75478	0.533000	0.62120	GAC		0.522	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		4	118	0	0	0	1	0	4	118				
UBP1	7342	broad.mit.edu	37	3	33437737	33437737	+	Missense_Mutation	SNP	C	C	A	rs549602250	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:33437737C>A	ENST00000283629.3	-	13	1836	c.1307G>T	c.(1306-1308)cGg>cTg	p.R436L	UBP1_ENST00000283628.5_Missense_Mutation_p.R436L|UBP1_ENST00000486388.1_5'UTR|UBP1_ENST00000447368.2_Missense_Mutation_p.R400L	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	436					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TGGCTGCTCCCGGCAGACATA	0.537																																						ENST00000283629.3																			0				breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						c.(1306-1308)cGg>cTg		upstream binding protein 1 (LBP-1a)							83.0	68.0	73.0					3																	33437737		2203	4300	6503	SO:0001583	missense	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33437737C>A	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.1307G>T	3.37:g.33437737C>A	ENSP00000283629:p.Arg436Leu		Somatic				UBP1_ENST00000283628.5_Missense_Mutation_p.R436L|UBP1_ENST00000447368.2_Missense_Mutation_p.R400L|UBP1_ENST00000486388.1_5'UTR	p.R436L	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	WXS	Illumina GAIIx	Phase_I	Q9NZI7	UBIP1_HUMAN			13	1836	-			436					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	c.1307G>T	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.195501	0.38806	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628	T;T;T	0.16743	2.35;2.32;2.35	5.7	-0.635	0.11512	.	0.342412	0.32002	N	0.006725	T	0.04952	0.0133	N	0.02539	-0.55	0.28138	N	0.929914	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.42632	-0.9440	10	0.09338	T	0.73	-0.063	9.2838	0.37744	0.0:0.3706:0.0:0.6294	.	400;436	Q9NZI7-4;Q9NZI7	.;UBIP1_HUMAN	L	436;400;436	ENSP00000283629:R436L;ENSP00000395558:R400L;ENSP00000283628:R436L	ENSP00000283628:R436L	R	-	2	0	UBP1	33412741	1.000000	0.71417	0.997000	0.53966	0.896000	0.52359	2.770000	0.47662	-0.110000	0.12022	-0.136000	0.14681	CGG		0.537	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517		4	362	1	0	0.150653	1	0.155543	4	362				
GPR126	57211	broad.mit.edu	37	6	142737090	142737090	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:142737090G>C	ENST00000230173.6	+	20	3303	c.2827G>C	c.(2827-2829)Gca>Cca	p.A943P	GPR126_ENST00000367609.3_Missense_Mutation_p.A943P|GPR126_ENST00000367608.2_Missense_Mutation_p.A915P|GPR126_ENST00000296932.8_Missense_Mutation_p.A915P	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	943					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CTTCCTTCTGGCAACCTTTAC	0.428																																						ENST00000230173.6																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(2827-2829)Gca>Cca		G protein-coupled receptor 126							210.0	199.0	203.0					6																	142737090		1951	4156	6107	SO:0001583	missense	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142737090G>C	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.2827G>C	6.37:g.142737090G>C	ENSP00000230173:p.Ala943Pro		Somatic				GPR126_ENST00000367609.3_Missense_Mutation_p.A943P|GPR126_ENST00000367608.2_Missense_Mutation_p.A915P|GPR126_ENST00000296932.8_Missense_Mutation_p.A915P	p.A943P	NM_020455.5	NP_065188.4	WXS	Illumina GAIIx	Phase_I	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	20	3303	+	Breast(32;0.176)		943					Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	c.2827G>C	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.549330	0.65311	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.4	5.4	0.78164	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000003	T	0.69593	0.3128	M	0.91406	3.205	0.52099	D	0.99994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.992;0.992;0.992;0.996	T	0.76350	-0.2991	10	0.72032	D	0.01	.	19.5245	0.95199	0.0:0.0:1.0:0.0	.	915;943;915;943	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	P	943;915;915;943	ENSP00000230173:A943P;ENSP00000356580:A915P;ENSP00000296932:A915P;ENSP00000356581:A943P	ENSP00000230173:A943P	A	+	1	0	GPR126	142778783	1.000000	0.71417	0.268000	0.24571	0.577000	0.36160	4.030000	0.57260	2.694000	0.91930	0.650000	0.86243	GCA		0.428	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			8	140	0	0	0	1	0	8	140				
ACACA	31	broad.mit.edu	37	17	35591991	35591991	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:35591991C>T	ENST00000394406.2	-	25	3224	c.3034G>A	c.(3034-3036)Gcc>Acc	p.A1012T	ACACA_ENST00000353139.5_Missense_Mutation_p.A1049T|ACACA_ENST00000360679.3_Missense_Mutation_p.A954T|ACACA_ENST00000335166.5_Missense_Mutation_p.A934T	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1012					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.A954T(1)|p.A1049T(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCTCGGAGGGCGAATACACAT	0.393																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			2	Substitution - Missense(2)	p.A954T(1)|p.A1049T(1)	large_intestine(2)	NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(3145-3147)Gcc>Acc		acetyl-CoA carboxylase alpha	Biotin(DB00121)						188.0	155.0	166.0					17																	35591991		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35591991C>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.3034G>A	17.37:g.35591991C>T	ENSP00000377928:p.Ala1012Thr		Somatic				ACACA_ENST00000360679.3_Missense_Mutation_p.A954T|ACACA_ENST00000335166.5_Missense_Mutation_p.A934T|ACACA_ENST00000394406.2_Missense_Mutation_p.A1012T	p.A1049T	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	WXS	Illumina GAIIx	Phase_I	Q13085	ACACA_HUMAN			25	3626	-		Breast(25;0.00157)|Ovarian(249;0.15)	1012					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.3145G>A	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.722596	0.48728	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.66	4.7	0.59300	Acetyl-CoA carboxylase, central domain (1);	0.052148	0.85682	D	0.000000	T	0.40297	0.1111	M	0.72118	2.19	0.80722	D	1	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.10450	0.005;0.005;0.003	T	0.25641	-1.0126	10	0.14656	T	0.56	-1.1597	11.7977	0.52110	0.0:0.8544:0.0:0.1456	.	1049;1012;954	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	T	1049;954;1012;1036;934	ENSP00000344789:A1049T;ENSP00000353898:A954T;ENSP00000377928:A1012T;ENSP00000335323:A934T	ENSP00000335323:A934T	A	-	1	0	ACACA	32666104	0.613000	0.27009	0.783000	0.31826	0.978000	0.69477	1.273000	0.33121	1.421000	0.47157	0.655000	0.94253	GCC		0.393	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		6	707	0	0	0	1	0	6	707				
MADD	8567	broad.mit.edu	37	11	47336769	47336769	+	Splice_Site	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:47336769A>G	ENST00000311027.5	+	30	4434		c.e30-1		MADD_ENST00000395336.3_Splice_Site|MADD_ENST00000395344.3_Splice_Site|MADD_ENST00000402799.1_Splice_Site|MADD_ENST00000342922.4_Splice_Site|MADD_ENST00000405573.2_Splice_Site|MADD_ENST00000406482.1_Splice_Site|MADD_ENST00000402192.2_Splice_Site|MADD_ENST00000407859.3_Splice_Site|MADD_ENST00000349238.3_Splice_Site	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CTCTTTCATCAGAATGGACGC	0.473																																						ENST00000342922.4																			0				breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.e27-1		MAP-kinase activating death domain							92.0	86.0	88.0					11																	47336769		2201	4298	6499	SO:0001630	splice_region_variant	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47336769A>G	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.4270-1A>G	11.37:g.47336769A>G			Somatic				MADD_ENST00000402192.2_Splice_Site|MADD_ENST00000402799.1_Splice_Site|MADD_ENST00000406482.1_Splice_Site|MADD_ENST00000395344.3_Splice_Site|MADD_ENST00000405573.2_Splice_Site|MADD_ENST00000349238.3_Splice_Site|MADD_ENST00000407859.3_Splice_Site|MADD_ENST00000311027.5_Splice_Site|MADD_ENST00000395336.3_Splice_Site		NM_130470.2	NP_569826.2	WXS	Illumina GAIIx	Phase_I	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	27	4449	+									Splice_Site	SNP	ENST00000311027.5	37		CCDS7930.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.633806	0.87660	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192;ENST00000405573	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2338	0.73413	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MADD	47293345	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.871000	0.92346	1.985000	0.57927	0.460000	0.39030	.		0.473	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1		Intron	3	55	0	0	0	1	0	3	55				
ABCG8	64241	broad.mit.edu	37	2	44101009	44101009	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:44101009G>A	ENST00000272286.2	+	9	1385	c.1295G>A	c.(1294-1296)gGc>gAc	p.G432D		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	432	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	ATGACCATCGGCTTCCTCTAT	0.522																																						ENST00000272286.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(1294-1296)gGc>gAc		ATP-binding cassette, sub-family G (WHITE), member 8							235.0	229.0	231.0					2																	44101009		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44101009G>A	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1295G>A	2.37:g.44101009G>A	ENSP00000272286:p.Gly432Asp		Somatic					p.G432D	NM_022437.2	NP_071882.1	WXS	Illumina GAIIx	Phase_I	Q9H221	ABCG8_HUMAN			9	1385	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	432			ABC transmembrane type-2.		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.1295G>A	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385858	0.61956	.	.	ENSG00000143921	ENST00000272286	T	0.79940	-1.32	5.4	5.4	0.78164	ABC-2 type transporter (1);	0.045950	0.85682	D	0.000000	D	0.90212	0.6940	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91119	0.4928	10	0.87932	D	0	.	19.1934	0.93677	0.0:0.0:1.0:0.0	.	431;432	Q9H221-2;Q9H221	.;ABCG8_HUMAN	D	432	ENSP00000272286:G432D	ENSP00000272286:G432D	G	+	2	0	ABCG8	43954513	1.000000	0.71417	0.524000	0.27887	0.012000	0.07955	9.092000	0.94157	2.536000	0.85505	0.561000	0.74099	GGC		0.522	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		6	770	0	0	0	1	0	6	770				
LRBA	987	broad.mit.edu	37	4	151935680	151935680	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:151935680G>A	ENST00000357115.3	-	2	358	c.115C>T	c.(115-117)Ctc>Ttc	p.L39F	LRBA_ENST00000507224.1_Missense_Mutation_p.L39F|LRBA_ENST00000535741.1_Missense_Mutation_p.L39F|LRBA_ENST00000510413.1_Missense_Mutation_p.L39F	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	39						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTGATGGGGAGCCCTGGTTTC	0.512																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(115-117)Ctc>Ttc		LPS-responsive vesicle trafficking, beach and anchor containing							62.0	55.0	58.0					4																	151935680		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151935680G>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.115C>T	4.37:g.151935680G>A	ENSP00000349629:p.Leu39Phe		Somatic				LRBA_ENST00000357115.3_Missense_Mutation_p.L39F|LRBA_ENST00000510413.1_Missense_Mutation_p.L39F|LRBA_ENST00000507224.1_Missense_Mutation_p.L39F	p.L39F			WXS	Illumina GAIIx	Phase_I	P50851	LRBA_HUMAN			2	588	-	all_hematologic(180;0.151)		39					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.115C>T	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164841	0.57476	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.58797	0.73;0.88;0.73;0.31	5.24	3.35	0.38373	.	0.960683	0.08572	N	0.925876	T	0.40247	0.1109	N	0.22421	0.69	0.30715	N	0.748835	P;B;P	0.39717	0.684;0.343;0.573	B;B;B	0.33799	0.145;0.17;0.153	T	0.44667	-0.9313	10	0.72032	D	0.01	.	6.493	0.22125	0.0:0.2682:0.5261:0.2056	.	39;39;39	P50851;Q6P1X2;P50851-2	LRBA_HUMAN;.;.	F	39	ENSP00000446299:L39F;ENSP00000421552:L39F;ENSP00000349629:L39F;ENSP00000422180:L39F	ENSP00000349629:L39F	L	-	1	0	LRBA	152155130	0.991000	0.36638	0.802000	0.32245	0.965000	0.64279	1.242000	0.32755	1.153000	0.42468	0.555000	0.69702	CTC		0.512	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			55	13	0	0	0	1	0	55	13				
CACNA1D	776	broad.mit.edu	37	3	53783446	53783446	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:53783446C>T	ENST00000350061.5	+	27	3977	c.3466C>T	c.(3466-3468)Cag>Tag	p.Q1156*	CACNA1D_ENST00000288139.4_Nonsense_Mutation_p.Q1176*|CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.Q1156*|CACNA1D_ENST00000540742.1_Nonsense_Mutation_p.Q63*	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1156	Dihydropyridine binding. {ECO:0000250}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGTTACATTTCAGGAACAAGG	0.428																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(3526-3528)Cag>Tag		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						126.0	114.0	118.0					3																	53783446		2203	4300	6503	SO:0001587	stop_gained	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53783446C>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.3466C>T	3.37:g.53783446C>T	ENSP00000288133:p.Gln1156*		Somatic				CACNA1D_ENST00000540742.1_Nonsense_Mutation_p.Q63*|CACNA1D_ENST00000350061.5_Nonsense_Mutation_p.Q1156*|CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.Q1156*	p.Q1176*	NM_000720.2	NP_000711.1	WXS	Illumina GAIIx	Phase_I	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	28	3644	+			1156					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Nonsense_Mutation	SNP	ENST00000350061.5	37	c.3526C>T	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	45	11.758680	0.99599	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.3421	0.94347	0.0:1.0:0.0:0.0	.	.	.	.	X	1156;1176;1156;849;63	.	ENSP00000288139:Q1176X	Q	+	1	0	CACNA1D	53758486	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.826000	0.97356	0.655000	0.94253	CAG		0.428	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		5	97	0	0	0	1	0	5	97				
SEZ6	124925	broad.mit.edu	37	17	27287824	27287824	+	Splice_Site	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:27287824T>C	ENST00000317338.12	-	6	1836	c.1408A>G	c.(1408-1410)Agg>Ggg	p.R470G	SEZ6_ENST00000360295.9_Splice_Site_p.R470G|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Splice_Site_p.R470G|SEZ6_ENST00000335960.6_Splice_Site_p.R470G			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	470	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GCCCCTCACCTGTCATCATCC	0.607																																						ENST00000317338.12																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29						c.e6+1		seizure related 6 homolog (mouse)							75.0	82.0	80.0					17																	27287824		2073	4212	6285	SO:0001630	splice_region_variant	124925					integral to membrane|plasma membrane		g.chr17:27287824T>C	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.1409+1A>G	17.37:g.27287824T>C			Somatic				SEZ6_ENST00000360295.9_Splice_Site_p.R470_splice|SEZ6_ENST00000442608.3_Splice_Site_p.R470_splice|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Splice_Site_p.R470_splice	p.R470_splice			WXS	Illumina GAIIx	Phase_I	Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		6	1836	-	Lung NSC(42;0.0137)		470			CUB 1.		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Splice_Site	SNP	ENST00000317338.12	37	c.1409_splice	CCDS45639.1	.	.	.	.	.	.	.	.	.	.	T	19.74	3.884024	0.72410	.	.	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000335960;ENST00000541381	T;T;T	0.28895	1.59;1.59;1.59	4.53	4.53	0.55603	CUB (5);	0.000000	0.85682	D	0.000000	T	0.49609	0.1567	L	0.58354	1.805	0.58432	D	0.999993	D;P	0.69078	0.997;0.844	D;P	0.79784	0.993;0.705	T	0.51537	-0.8693	10	0.72032	D	0.01	.	12.1311	0.53944	0.0:0.0:0.0:1.0	.	470;470	Q53EL9-3;Q53EL9	.;SEZ6_HUMAN	G	470;470;345;470;470	ENSP00000403784:R470G;ENSP00000353440:R470G;ENSP00000337407:R470G	ENSP00000312942:R345G	R	-	1	2	SEZ6	24311950	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	0.608000	0.24223	2.039000	0.60335	0.260000	0.18958	AGG		0.607	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3		Missense_Mutation	4	534	0	0	0	1	0	4	534				
ZHX2	22882	broad.mit.edu	37	8	123964520	123964520	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:123964520A>G	ENST00000314393.4	+	3	1605	c.770A>G	c.(769-771)aAg>aGg	p.K257R		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	257	Required for homodimerization.				mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CTTGTGCCCAAGGTCCCTGTC	0.507																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(769-771)aAg>aGg		zinc fingers and homeoboxes 2							163.0	172.0	169.0					8																	123964520		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123964520A>G	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.770A>G	8.37:g.123964520A>G	ENSP00000314709:p.Lys257Arg		Somatic					p.K257R	NM_014943.3	NP_055758.1	WXS	Illumina GAIIx	Phase_I	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	1605	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		257			Required for homodimerization.			Missense_Mutation	SNP	ENST00000314393.4	37	c.770A>G	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	A	19.41	3.821794	0.71028	.	.	ENSG00000178764	ENST00000314393	T	0.28666	1.6	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.57975	0.2090	M	0.79475	2.455	0.58432	D	0.99999	D	0.89917	1.0	D	0.83275	0.996	T	0.59075	-0.7522	10	0.46703	T	0.11	-28.1146	16.3817	0.83467	1.0:0.0:0.0:0.0	.	257	Q9Y6X8	ZHX2_HUMAN	R	257	ENSP00000314709:K257R	ENSP00000314709:K257R	K	+	2	0	ZHX2	124033701	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	8.918000	0.92759	2.276000	0.75962	0.454000	0.30748	AAG		0.507	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		5	447	0	0	0	1	0	5	447				
SPAG7	9552	broad.mit.edu	37	17	4863593	4863593	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:4863593G>A	ENST00000206020.3	-	4	330	c.263C>T	c.(262-264)gCt>gTt	p.A88V	SPAG7_ENST00000575142.1_Missense_Mutation_p.A77V|SPAG7_ENST00000573366.1_Missense_Mutation_p.A37V	NM_004890.2	NP_004881.2	O75391	SPAG7_HUMAN	sperm associated antigen 7	88	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						TGTCAGGCCAGCCACTTCCAC	0.557																																						ENST00000573366.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						c.(109-111)gCt>gTt		sperm associated antigen 7							61.0	63.0	62.0					17																	4863593		2046	4205	6251	SO:0001583	missense	9552					nucleus	nucleic acid binding|protein binding	g.chr17:4863593G>A	AF047437	CCDS42240.1	17p13.2	2008-07-18				ENSG00000091640			11216	protein-coding gene	gene with protein product		610056				9653160	Standard	NM_004890		Approved	FSA-1, ACRP, MGC20134	uc002gae.3	O75391		ENST00000206020.3:c.263C>T	17.37:g.4863593G>A	ENSP00000206020:p.Ala88Val		Somatic				SPAG7_ENST00000575142.1_Missense_Mutation_p.A77V|SPAG7_ENST00000206020.3_Missense_Mutation_p.A88V	p.A37V			WXS	Illumina GAIIx	Phase_I	O75391	SPAG7_HUMAN			4	968	-			88					Q96EU5	Missense_Mutation	SNP	ENST00000206020.3	37	c.110C>T	CCDS42240.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.921026	0.92249	.	.	ENSG00000091640	ENST00000206020	T	0.42131	0.98	5.3	5.3	0.74995	Single-stranded nucleic acid binding R3H (3);	0.000000	0.85682	D	0.000000	T	0.66915	0.2838	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.70375	-0.4889	10	0.72032	D	0.01	-2.5648	16.4886	0.84191	0.0:0.0:1.0:0.0	.	88	O75391	SPAG7_HUMAN	V	88	ENSP00000206020:A88V	ENSP00000206020:A88V	A	-	2	0	SPAG7	4804316	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.762000	0.85270	2.757000	0.94681	0.655000	0.94253	GCT		0.557	SPAG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438747.1	NM_004890		3	42	0	0	0	1	0	3	42				
OR51I1	390063	broad.mit.edu	37	11	5462299	5462299	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:5462299C>T	ENST00000380211.1	-	1	445	c.446G>A	c.(445-447)gGc>gAc	p.G149D	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	149					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTAAGGATGCCCAGACCCAT	0.473																																						ENST00000380211.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(445-447)gGc>gAc		olfactory receptor, family 51, subfamily I, member 1							132.0	104.0	113.0					11																	5462299		2201	4297	6498	SO:0001583	missense	390063				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5462299C>T	BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"""GPCR / Class A : Olfactory receptors"""	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.446G>A	11.37:g.5462299C>T	ENSP00000369559:p.Gly149Asp		Somatic				AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	p.G149D	NM_001005288.2	NP_001005288.1	WXS	Illumina GAIIx	Phase_I	Q9H343	O51I1_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	445	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	149					B9EKW2|Q6IF33	Missense_Mutation	SNP	ENST00000380211.1	37	c.446G>A	CCDS31382.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565430	0.45694	.	.	ENSG00000167359	ENST00000317283;ENST00000321307;ENST00000380211	T	0.39787	1.06	5.74	1.49	0.22878	GPCR, rhodopsin-like superfamily (1);	0.371511	0.23060	N	0.052395	T	0.50463	0.1617	M	0.62088	1.915	0.09310	N	1	D	0.54601	0.967	P	0.57057	0.812	T	0.36890	-0.9729	10	0.72032	D	0.01	.	8.5711	0.33569	0.2392:0.3271:0.4337:0.0	.	149	Q9H343	O51I1_HUMAN	D	134;146;149	ENSP00000369559:G149D	ENSP00000348350:G134D	G	-	2	0	OR51I1	5418875	0.000000	0.05858	0.528000	0.27938	0.515000	0.34225	-0.349000	0.07731	0.758000	0.33059	0.551000	0.68910	GGC		0.473	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288		5	397	0	0	0	1	0	5	397				
LCA5	167691	broad.mit.edu	37	6	80223213	80223213	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:80223213C>A	ENST00000392959.1	-	4	1047	c.436G>T	c.(436-438)Gcc>Tcc	p.A146S	LCA5_ENST00000467898.3_Missense_Mutation_p.A146S|LCA5_ENST00000369846.4_Missense_Mutation_p.A146S	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	146					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TTATTCAGGGCTTTCTCCTGT	0.363																																						ENST00000392959.1																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32						c.(436-438)Gcc>Tcc		Leber congenital amaurosis 5							96.0	92.0	93.0					6																	80223213		2203	4299	6502	SO:0001583	missense	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80223213C>A		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.436G>T	6.37:g.80223213C>A	ENSP00000376686:p.Ala146Ser		Somatic				LCA5_ENST00000467898.2_Missense_Mutation_p.A146S|LCA5_ENST00000369846.4_Missense_Mutation_p.A146S	p.A146S	NM_181714.3	NP_859065.2	WXS	Illumina GAIIx	Phase_I	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	4	1047	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	146					E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	c.436G>T	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961957	0.92791	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	D;D	0.89123	-2.47;-2.47	6.07	6.07	0.98685	.	0.059132	0.64402	D	0.000003	D	0.93552	0.7942	M	0.79011	2.435	0.54753	D	0.999985	P;D	0.76494	0.916;0.999	P;P	0.62560	0.654;0.904	D	0.93394	0.6754	10	0.87932	D	0	-2.8757	19.6475	0.95784	0.0:1.0:0.0:0.0	.	146;146	B4DRL2;Q86VQ0	.;LCA5_HUMAN	S	146	ENSP00000358861:A146S;ENSP00000376686:A146S	ENSP00000358861:A146S	A	-	1	0	LCA5	80279932	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.195000	0.72088	2.885000	0.99019	0.655000	0.94253	GCC		0.363	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		3	59	1	0	1	1	1	3	59				
TAF4	6874	broad.mit.edu	37	20	60574157	60574157	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:60574157T>G	ENST00000252996.4	-	12	2794	c.2795A>C	c.(2794-2796)gAc>gCc	p.D932A		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	932					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CTCATATCTGTCGTCATCCTA	0.488																																						ENST00000252996.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2794-2796)gAc>gCc		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa							263.0	277.0	273.0					20																	60574157		2203	4300	6503	SO:0001583	missense	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60574157T>G	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2795A>C	20.37:g.60574157T>G	ENSP00000252996:p.Asp932Ala		Somatic					p.D932A	NM_003185.3	NP_003176.2	WXS	Illumina GAIIx	Phase_I	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		12	2794	-	Breast(26;1e-08)		932					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	c.2795A>C	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.502145	0.44455	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.22945	1.94;1.93	5.39	5.39	0.77823	Transcription initiation factor TFIID component TAF4 (1);	0.362695	0.30501	N	0.009491	T	0.22475	0.0542	L	0.36672	1.1	0.50813	D	0.999893	P	0.38280	0.625	B	0.38156	0.266	T	0.03249	-1.1056	10	0.19590	T	0.45	-9.697	15.3546	0.74418	0.0:0.0:0.0:1.0	.	932	O00268	TAF4_HUMAN	A	932;796	ENSP00000252996:D932A;ENSP00000399091:D796A	ENSP00000252996:D932A	D	-	2	0	TAF4	60007552	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	4.592000	0.61027	2.042000	0.60477	0.402000	0.26972	GAC		0.488	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		5	428	0	0	0	1	0	5	428				
PDXK	8566	broad.mit.edu	37	21	45152365	45152365	+	Intron	SNP	C	C	A	rs370464739		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr21:45152365C>A	ENST00000291565.4	+	2	270				PDXK_ENST00000476313.1_Intron|PDXK_ENST00000327574.4_Nonsense_Mutation_p.S36*|PDXK_ENST00000398081.1_Intron|PDXK_ENST00000468090.1_Intron	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase						cell proliferation (GO:0008283)|pyridoxal 5'-phosphate salvage (GO:0009443)|pyridoxal phosphate biosynthetic process (GO:0042823)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|protein homodimerization activity (GO:0042803)|pyridoxal kinase activity (GO:0008478)|pyridoxal phosphate binding (GO:0030170)|sodium ion binding (GO:0031402)|zinc ion binding (GO:0008270)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	TCAGCTTGCTCGTGCTCTCAT	0.493																																						ENST00000327574.4																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(106-108)tCg>tAg		pyridoxal (pyridoxine, vitamin B6) kinase	Pyridoxal(DB00147)|Pyridoxine(DB00165)						142.0	138.0	139.0					21																	45152365		876	1991	2867	SO:0001627	intron_variant	8566				cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding	g.chr21:45152365C>A	U89606	CCDS13699.1	21q22.3	2007-05-10			ENSG00000160209	ENSG00000160209	2.7.1.35		8819	protein-coding gene	gene with protein product		179020	"""chromosome 21 open reading frame 97"", ""chromosome 21 open reading frame 124"""	C21orf97, C21orf124		9099727	Standard	NM_003681		Approved	PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873	uc002zdm.4	O00764	OTTHUMG00000086870	ENST00000291565.4:c.88-1585C>A	21.37:g.45152365C>A			Somatic				PDXK_ENST00000398081.1_Intron|PDXK_ENST00000476313.1_Intron|PDXK_ENST00000291565.4_Intron|PDXK_ENST00000468090.1_Intron	p.S36*			WXS	Illumina GAIIx	Phase_I	O00764	PDXK_HUMAN		Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	2	457	+			0					Q7Z2Y0|Q9BS02	Nonsense_Mutation	SNP	ENST00000291565.4	37	c.107C>A	CCDS13699.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179408	0.57800	.	.	ENSG00000160209	ENST00000327574	.	.	.	1.04	0.0426	0.14218	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.0994	0.10007	0.4052:0.5948:0.0:0.0	.	.	.	.	X	36	.	.	S	+	2	0	PDXK	43976793	0.001000	0.12720	0.001000	0.08648	0.010000	0.07245	0.305000	0.19254	0.009000	0.14813	0.561000	0.74099	TCG		0.493	PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195636.1	NM_003681		3	29	1	0	0.115264	1	0.119247	3	29				
HSPA2	3306	broad.mit.edu	37	14	65008729	65008729	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:65008729T>C	ENST00000394709.1	+	2	1238	c.1162T>C	c.(1162-1164)Tca>Cca	p.S388P	HSPA2_ENST00000247207.6_Missense_Mutation_p.S388P|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	388					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CGGCGACAAATCAGAGAATGT	0.602																																					Pancreas(136;1211 1835 24894 31984 38227)	ENST00000247207.6																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22						c.(1162-1164)Tca>Cca		heat shock 70kDa protein 2							64.0	62.0	62.0					14																	65008729		2203	4300	6503	SO:0001583	missense	3306				response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	g.chr14:65008729T>C	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.1162T>C	14.37:g.65008729T>C	ENSP00000378199:p.Ser388Pro		Somatic				HSPA2_ENST00000394709.1_Missense_Mutation_p.S388P	p.S388P	NM_021979.3	NP_068814.2	WXS	Illumina GAIIx	Phase_I	P54652	HSP72_HUMAN		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	1	1544	+			388					Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	ENST00000394709.1	37	c.1162T>C	CCDS9766.1	.	.	.	.	.	.	.	.	.	.	T	17.79	3.474888	0.63737	.	.	ENSG00000126803	ENST00000394709;ENST00000247207;ENST00000545222	T;T	0.01126	5.3;5.3	5.11	5.11	0.69529	.	0.000000	0.49305	U	0.000142	T	0.06554	0.0168	M	0.93016	3.37	0.49483	D	0.999792	P	0.51791	0.948	P	0.51170	0.661	T	0.01666	-1.1300	10	0.87932	D	0	-1.8302	14.9611	0.71158	0.0:0.0:0.0:1.0	.	388	P54652	HSP72_HUMAN	P	388;388;162	ENSP00000378199:S388P;ENSP00000247207:S388P	ENSP00000247207:S388P	S	+	1	0	HSPA2	64078482	1.000000	0.71417	0.989000	0.46669	0.568000	0.35870	8.037000	0.88933	1.939000	0.56221	0.456000	0.33151	TCA		0.602	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			3	67	0	0	0	1	0	3	67				
AURKC	6795	broad.mit.edu	37	19	57743445	57743445	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:57743445G>T	ENST00000302804.7	+	3	335	c.149G>T	c.(148-150)gGc>gTc	p.G50V	AURKC_ENST00000599062.1_Missense_Mutation_p.G47V|AURKC_ENST00000448930.1_Missense_Mutation_p.G16V|AURKC_ENST00000415300.2_Missense_Mutation_p.G31V|AURKC_ENST00000598785.1_Missense_Mutation_p.G16V	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	50	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		CGTCCCCTGGGCAAGGGGAAA	0.542																																						ENST00000302804.7																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25						c.(148-150)gGc>gTc		aurora kinase C							58.0	52.0	54.0					19																	57743445		2203	4300	6503	SO:0001583	missense	6795				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	g.chr19:57743445G>T		CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.149G>T	19.37:g.57743445G>T	ENSP00000302898:p.Gly50Val		Somatic				AURKC_ENST00000599062.1_Missense_Mutation_p.G47V|AURKC_ENST00000598785.1_Missense_Mutation_p.G16V|AURKC_ENST00000448930.1_Missense_Mutation_p.G16V|AURKC_ENST00000415300.2_Missense_Mutation_p.G31V	p.G50V	NM_001015878.1	NP_001015878.1	WXS	Illumina GAIIx	Phase_I	Q9UQB9	AURKC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)	3	335	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	50			Protein kinase.		O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Missense_Mutation	SNP	ENST00000302804.7	37	c.149G>T	CCDS33128.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141139	0.77775	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	D;D;D	0.82893	-1.66;-1.66;-1.66	3.79	3.79	0.43588	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93190	0.7831	H	0.95187	3.635	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.94745	0.7922	10	0.87932	D	0	-24.3758	13.9903	0.64362	0.0:0.0:1.0:0.0	.	47;50;31	Q5Y191;Q9UQB9;Q9UQB9-3	.;AURKC_HUMAN;.	V	31;16;50	ENSP00000407162:G31V;ENSP00000406798:G16V;ENSP00000302898:G50V	ENSP00000302898:G50V	G	+	2	0	AURKC	62435257	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.093000	0.89531	2.421000	0.82119	0.555000	0.69702	GGC		0.542	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160		4	77	1	0	0.00024832	1	0.000280255	4	77				
PGBD2	267002	broad.mit.edu	37	1	249212482	249212482	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:249212482C>T	ENST00000329291.5	+	3	1846	c.1699C>T	c.(1699-1701)Cac>Tac	p.H567Y	PGBD2_ENST00000355360.4_Missense_Mutation_p.H316Y|PGBD2_ENST00000539153.1_Missense_Mutation_p.H564Y	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	567										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGCCCTCTGCCACTCACAGAC	0.552																																						ENST00000355360.4																			0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(946-948)Cac>Tac		piggyBac transposable element derived 2							115.0	120.0	118.0					1																	249212482		2203	4300	6503	SO:0001583	missense	267002							g.chr1:249212482C>T	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1699C>T	1.37:g.249212482C>T	ENSP00000331643:p.His567Tyr		Somatic				PGBD2_ENST00000539153.1_Missense_Mutation_p.H564Y|PGBD2_ENST00000329291.5_Missense_Mutation_p.H567Y	p.H316Y	NM_001017434.1	NP_001017434.1	WXS	Illumina GAIIx	Phase_I	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	1216	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	567					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.946C>T	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	.	9.273	1.046261	0.19748	.	.	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	D;D;D	0.84442	-1.85;-1.85;-1.85	3.22	3.22	0.36961	.	0.000000	0.39834	N	0.001246	D	0.86611	0.5974	L	0.36672	1.1	0.25364	N	0.988756	D;D	0.67145	0.996;0.963	D;P	0.78314	0.991;0.624	T	0.76844	-0.2809	10	0.51188	T	0.08	.	10.1894	0.43017	0.0:1.0:0.0:0.0	.	564;567	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	Y	316;567;564	ENSP00000355424:H316Y;ENSP00000331643:H567Y;ENSP00000439950:H564Y	ENSP00000331643:H567Y	H	+	1	0	PGBD2	247179105	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	1.331000	0.33793	2.086000	0.62901	0.591000	0.81541	CAC		0.552	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			7	156	0	0	0	1	0	7	156				
CELSR1	9620	broad.mit.edu	37	22	46835125	46835125	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr22:46835125C>T	ENST00000262738.3	-	3	4366	c.4367G>A	c.(4366-4368)cGg>cAg	p.R1456Q		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1456	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCTCAGGCCCCGGAAGGTGAC	0.642																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(4366-4368)cGg>cAg		cadherin, EGF LAG seven-pass G-type receptor 1							104.0	86.0	92.0					22																	46835125		2203	4300	6503	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46835125C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4367G>A	22.37:g.46835125C>T	ENSP00000262738:p.Arg1456Gln		Somatic					p.R1456Q	NM_014246.1	NP_055061.1	WXS	Illumina GAIIx	Phase_I	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	3	4366	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1456			Laminin G-like 1.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.4367G>A	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017403	0.54576	.	.	ENSG00000075275	ENST00000262738	T	0.79653	-1.29	5.1	4.01	0.46588	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.165961	0.34932	U	0.003575	T	0.78381	0.4274	L	0.50847	1.595	0.80722	D	1	D	0.67145	0.996	P	0.55667	0.781	T	0.75274	-0.3375	10	0.27082	T	0.32	.	3.523	0.07750	0.0:0.6225:0.0:0.3775	.	1456	Q9NYQ6	CELR1_HUMAN	Q	1456	ENSP00000262738:R1456Q	ENSP00000262738:R1456Q	R	-	2	0	CELSR1	45213789	0.867000	0.29959	0.942000	0.38095	0.161000	0.22273	1.538000	0.36094	2.387000	0.81309	0.561000	0.74099	CGG		0.642	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		4	323	0	0	0	1	0	4	323				
HERC6	55008	broad.mit.edu	37	4	89334236	89334236	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:89334236C>T	ENST00000264346.7	+	12	1435	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	HERC6_ENST00000380265.5_Missense_Mutation_p.T459M	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	459					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.T459M(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CAGATAACTACGTGTCTCGAG	0.443																																						ENST00000380265.5																			1	Substitution - Missense(1)	p.T459M(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11						c.(1375-1377)aCg>aTg		HECT and RLD domain containing E3 ubiquitin protein ligase family member 6							215.0	206.0	209.0					4																	89334236		1920	4150	6070	SO:0001583	missense	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89334236C>T	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.1376C>T	4.37:g.89334236C>T	ENSP00000264346:p.Thr459Met		Somatic				HERC6_ENST00000264346.7_Missense_Mutation_p.T459M	p.T459M	NM_001165136.1	NP_001158608.1	WXS	Illumina GAIIx	Phase_I	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	12	1559	+		Hepatocellular(203;0.114)	459					B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	c.1376C>T	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474851	0.26511	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.39997	1.05;1.08	4.76	-1.71	0.08133	.	1.440270	0.04266	N	0.341279	T	0.51991	0.1707	M	0.66939	2.045	0.09310	N	1	D;D	0.76494	0.999;0.999	P;P	0.59703	0.862;0.732	T	0.39921	-0.9590	10	0.54805	T	0.06	.	1.1796	0.01842	0.3773:0.2162:0.2472:0.1593	.	459;459	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	M	459	ENSP00000369617:T459M;ENSP00000264346:T459M	ENSP00000264346:T459M	T	+	2	0	HERC6	89553259	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.630000	0.05502	-0.683000	0.05190	-0.302000	0.09304	ACG		0.443	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			16	2057	0	0	0	1	0	16	2057				
ATP1A3	478	broad.mit.edu	37	19	42473048	42473048	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:42473048A>G	ENST00000302102.5	-	20	2858	c.2708T>C	c.(2707-2709)gTg>gCg	p.V903A	ATP1A3_ENST00000543770.1_Missense_Mutation_p.V914A|ATP1A3_ENST00000602133.1_Missense_Mutation_p.V873A|ATP1A3_ENST00000545399.1_Missense_Mutation_p.V916A	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	903					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GAACTCCACCACCTTCCTCTG	0.612																																						ENST00000545399.1																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						c.(2746-2748)gTg>gCg		ATPase, Na+/K+ transporting, alpha 3 polypeptide							129.0	90.0	103.0					19																	42473048		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42473048A>G		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.2708T>C	19.37:g.42473048A>G	ENSP00000302397:p.Val903Ala		Somatic				ATP1A3_ENST00000602133.1_Missense_Mutation_p.V873A|ATP1A3_ENST00000543770.1_Missense_Mutation_p.V914A|ATP1A3_ENST00000302102.5_Missense_Mutation_p.V903A	p.V916A	NM_001256214.1	NP_001243143.1	WXS	Illumina GAIIx	Phase_I	P13637	AT1A3_HUMAN			20	2900	-			903					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.2747T>C	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	A	17.65	3.442446	0.63067	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79	3.45	2.43	0.29744	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.156320	0.42682	D	0.000670	D	0.89908	0.6851	N	0.25890	0.77	0.37586	D	0.919987	B;B;B;B	0.25667	0.0;0.108;0.04;0.131	B;B;B;B	0.35413	0.003;0.128;0.05;0.202	D	0.83586	0.0120	10	0.15952	T	0.53	.	6.6524	0.22969	0.8767:0.0:0.1233:0.0	.	916;914;903;903	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	A	903;903;916;873;647;914	ENSP00000302397:V903A;ENSP00000411503:V903A;ENSP00000444688:V916A;ENSP00000437577:V914A	ENSP00000302397:V903A	V	-	2	0	ATP1A3	47164888	0.914000	0.31030	1.000000	0.80357	0.976000	0.68499	5.844000	0.69430	1.596000	0.50062	0.379000	0.24179	GTG		0.612	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		5	255	0	0	0	1	0	5	255				
THBS1	7057	broad.mit.edu	37	15	39885673	39885673	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:39885673G>A	ENST00000260356.5	+	19	3236	c.3071G>A	c.(3070-3072)gGa>gAa	p.G1024E	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1024	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		GACTATGCTGGATTTGTCTTT	0.517																																						ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(3070-3072)gGa>gAa		thrombospondin 1	Becaplermin(DB00102)						157.0	159.0	158.0					15																	39885673		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39885673G>A		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3071G>A	15.37:g.39885673G>A	ENSP00000260356:p.Gly1024Glu		Somatic					p.G1024E	NM_003246.2	NP_003237.2	WXS	Illumina GAIIx	Phase_I	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	19	3236	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	1024			TSP C-terminal.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.3071G>A	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988614	0.93106	.	.	ENSG00000137801	ENST00000260356	D	0.96967	-4.19	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.35525	N	0.003146	D	0.98557	0.9518	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99170	1.0864	10	0.87932	D	0	-15.112	19.9729	0.97289	0.0:0.0:1.0:0.0	.	939;1024	B4E3J7;P07996	.;TSP1_HUMAN	E	1024	ENSP00000260356:G1024E	ENSP00000260356:G1024E	G	+	2	0	THBS1	37672965	1.000000	0.71417	0.898000	0.35279	0.992000	0.81027	9.864000	0.99589	2.714000	0.92807	0.655000	0.94253	GGA		0.517	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		5	577	0	0	0	1	0	5	577				
CD209	30835	broad.mit.edu	37	19	7811408	7811408	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:7811408C>T	ENST00000315599.7	-	3	138	c.116G>A	c.(115-117)gGc>gAc	p.G39D	CD209_ENST00000394161.5_Missense_Mutation_p.G39D|CD209_ENST00000354397.6_Missense_Mutation_p.G39D|CD209_ENST00000204801.8_Intron|CD209_ENST00000394173.4_Missense_Mutation_p.G39D|CD209_ENST00000593660.1_Intron|CD209_ENST00000601951.1_Intron|CD209_ENST00000301357.8_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000601256.1_Intron|CD209_ENST00000315591.8_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.G39D	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	39					antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GGGACCATGGCCAAGACACCC	0.642																																						ENST00000315599.7																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(115-117)gGc>gAc		CD209 molecule							160.0	129.0	139.0					19																	7811408		2203	4300	6503	SO:0001583	missense	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7811408C>T	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.116G>A	19.37:g.7811408C>T	ENSP00000315477:p.Gly39Asp		Somatic				CD209_ENST00000394173.4_Missense_Mutation_p.G39D|CD209_ENST00000204801.8_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.G39D|CD209_ENST00000601951.1_Intron|CD209_ENST00000601256.1_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000593660.1_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.G39D|CD209_ENST00000394161.5_Missense_Mutation_p.G39D|CD209_ENST00000315591.8_Intron|CD209_ENST00000301357.8_Intron	p.G39D	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	WXS	Illumina GAIIx	Phase_I	Q9NNX6	CD209_HUMAN			3	138	-			39					A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	ENST00000315599.7	37	c.116G>A	CCDS12186.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900540	0.33535	.	.	ENSG00000090659	ENST00000315599;ENST00000354397;ENST00000394173;ENST00000394161;ENST00000540789	T;T;T;T	0.10288	3.96;4.34;3.82;2.89	2.13	1.01	0.19927	.	.	.	.	.	T	0.19886	0.0478	L	0.41961	1.31	0.09310	N	1	D;D;D;D;D;D	0.89917	0.993;0.995;0.999;1.0;0.996;1.0	P;P;D;D;P;D	0.74023	0.826;0.897;0.982;0.942;0.876;0.93	T	0.09292	-1.0681	9	0.72032	D	0.01	.	5.5713	0.17198	0.3464:0.6536:0.0:0.0	.	39;39;39;39;39;39	B2R907;Q9NNX6-4;Q9NNX6-2;G5E9C4;Q9NNX6;Q9NNX6-5	.;.;.;.;CD209_HUMAN;.	D	39;39;39;39;19	ENSP00000315477:G39D;ENSP00000346373:G39D;ENSP00000377728:G39D;ENSP00000377716:G39D	ENSP00000315477:G39D	G	-	2	0	CD209	7717408	0.002000	0.14202	0.014000	0.15608	0.029000	0.11900	0.370000	0.20433	0.384000	0.24942	0.557000	0.71058	GGC		0.642	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		5	352	0	0	0	1	0	5	352				
DLG5	9231	broad.mit.edu	37	10	79566670	79566670	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:79566670G>A	ENST00000372391.2	-	26	4818	c.4813C>T	c.(4813-4815)Ctg>Ttg	p.L1605L	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.L1265L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1605	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ACATCTGCCAGCCGGTCGTAC	0.597																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(4813-4815)Ctg>Ttg		discs, large homolog 5 (Drosophila)							113.0	98.0	103.0					10																	79566670		2203	4300	6503	SO:0001819	synonymous_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79566670G>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4813C>T	10.37:g.79566670G>A			Somatic				DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.L1265L	p.L1605L	NM_004747.3	NP_004738.3	WXS	Illumina GAIIx	Phase_I	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		26	4818	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1605			SH3.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	c.4813C>T	CCDS7353.2																																																																																				0.597	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			3	61	0	0	0	1	0	3	61				
AGAP11	119385	broad.mit.edu	37	10	88768273	88768273	+	RNA	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:88768273C>T	ENST00000444431.1	+	0	2873				RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										AGTCCATGGGCTGGTCCAACC	0.567																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11							149.0	162.0	158.0					10																	88768273		2179	4294	6473			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88768273C>T			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88768273C>T			Somatic				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA				WXS	Illumina GAIIx	Phase_I	Q8TF27	AGA11_HUMAN			0	2873	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.567	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		14	1001	0	0	0	1	0	14	1001				
GGCX	2677	broad.mit.edu	37	2	85779652	85779652	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:85779652G>T	ENST00000233838.4	-	10	1406	c.1326C>A	c.(1324-1326)gaC>gaA	p.D442E	GGCX_ENST00000473665.1_5'UTR|GGCX_ENST00000430215.3_Missense_Mutation_p.D385E	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	442					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	GCTTCAGCATGTCTGCATGAT	0.478											OREG0014747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000233838.3																			0				endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15						c.(1324-1326)gaC>gaA		gamma-glutamyl carboxylase	Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)						163.0	151.0	155.0					2																	85779652		2203	4300	6503	SO:0001583	missense	2677				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity	g.chr2:85779652G>T		CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.1326C>A	2.37:g.85779652G>T	ENSP00000233838:p.Asp442Glu		Somatic	OREG0014747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1239	GGCX_ENST00000430215.3_Missense_Mutation_p.D385E|GGCX_ENST00000473665.1_5'UTR	p.D442E	NM_000821.5	NP_000812.2	WXS	Illumina GAIIx	Phase_I	P38435	VKGC_HUMAN			10	1406	-			442					B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP	ENST00000233838.4	37	c.1326C>A	CCDS1978.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964343	0.74131	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	D;D	0.94576	-3.46;-3.46	5.95	4.16	0.48862	.	0.000000	0.85682	D	0.000000	D	0.96661	0.8910	M	0.81497	2.545	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.91635	0.977;0.999;0.98	D	0.96585	0.9433	10	0.72032	D	0.01	-23.639	10.0702	0.42328	0.16:0.0:0.84:0.0	.	385;281;442	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	E	442;385	ENSP00000233838:D442E;ENSP00000408045:D385E	ENSP00000233838:D442E	D	-	3	2	GGCX	85633163	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.273000	0.58914	1.534000	0.49203	0.655000	0.94253	GAC		0.478	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821		202	1332	1	0	7.89626e-74	1	1.15827e-73	202	1332				
MYRF	745	broad.mit.edu	37	11	61538984	61538984	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:61538984C>A	ENST00000278836.5	+	6	849	c.753C>A	c.(751-753)caC>caA	p.H251Q	MYRF_ENST00000327797.1_5'Flank|MYRF_ENST00000265460.5_Missense_Mutation_p.H242Q|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	251	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TCCCTACACACCCCTCCAAGA	0.617																																						ENST00000278836.5																			0											c.(751-753)caC>caA		myelin regulatory factor							52.0	57.0	56.0					11																	61538984		2202	4299	6501	SO:0001583	missense	745							g.chr11:61538984C>A		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.753C>A	11.37:g.61538984C>A	ENSP00000278836:p.His251Gln		Somatic				TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.H242Q	p.H251Q	NM_001127392.1	NP_001120864.1	WXS	Illumina GAIIx	Phase_I					6	849	+								O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	c.753C>A	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	c	14.01	2.407297	0.42715	.	.	ENSG00000124920	ENST00000278836;ENST00000265460	T;T	0.34072	1.39;1.38	4.41	3.49	0.39957	NDT80 DNA-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.43545	0.1252	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.991	T	0.35151	-0.9800	10	0.66056	D	0.02	-29.9024	8.6114	0.33804	0.0:0.7531:0.0:0.2469	.	242;251	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	Q	251;242	ENSP00000278836:H251Q;ENSP00000265460:H242Q	ENSP00000265460:H242Q	H	+	3	2	C11orf9	61295560	0.973000	0.33851	1.000000	0.80357	0.978000	0.69477	0.164000	0.16542	0.996000	0.38943	0.457000	0.33378	CAC		0.617	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2	NM_013279		3	9	1	0	1	1	1	3	9				
KLHDC7A	127707	broad.mit.edu	37	1	18809651	18809651	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:18809651T>C	ENST00000400664.1	+	1	2228	c.2176T>C	c.(2176-2178)Tac>Cac	p.Y726H		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	726						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAACCTCATCTACTGCGTGGG	0.662																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(2176-2178)Tac>Cac		kelch domain containing 7A							91.0	79.0	83.0					1																	18809651		2203	4300	6503	SO:0001583	missense	127707					integral to membrane		g.chr1:18809651T>C	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.2176T>C	1.37:g.18809651T>C	ENSP00000383505:p.Tyr726His		Somatic					p.Y726H	NM_152375.2	NP_689588.2	WXS	Illumina GAIIx	Phase_I	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	2228	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	726					Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.2176T>C	CCDS185.2	.	.	.	.	.	.	.	.	.	.	T	15.82	2.946799	0.53186	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.19938	2.11	5.08	3.73	0.42828	Kelch-type beta propeller (1);	0.255042	0.33127	N	0.005256	T	0.19208	0.0461	L	0.37630	1.12	0.27896	N	0.939169	P;P	0.49783	0.928;0.928	P;P	0.46975	0.533;0.533	T	0.04522	-1.0945	10	0.44086	T	0.13	.	8.148	0.31124	0.0:0.1463:0.0:0.8537	.	663;726	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	H	726;663	ENSP00000383505:Y726H	ENSP00000383505:Y726H	Y	+	1	0	KLHDC7A	18682238	1.000000	0.71417	0.956000	0.39512	0.994000	0.84299	2.239000	0.43079	1.900000	0.55004	0.533000	0.62120	TAC		0.662	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		3	26	0	0	0	1	0	3	26				
ACSM2B	348158	broad.mit.edu	37	16	20554584	20554584	+	Splice_Site	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:20554584C>T	ENST00000329697.6	-	11	1450	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	ACSM2B_ENST00000567288.1_5'Flank|ACSM2B_ENST00000567001.1_Splice_Site_p.E428K|ACSM2B_ENST00000565232.1_Splice_Site_p.E428K|ACSM2B_ENST00000565322.1_Splice_Site_p.E349K	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	428					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TCGGGATTTTCCTGGTGACCA	0.483																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.e11-1		acyl-CoA synthetase medium-chain family member 2B							77.0	135.0	116.0					16																	20554584		2165	4300	6465	SO:0001630	splice_region_variant	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20554584C>T	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1282-1G>A	16.37:g.20554584C>T			Somatic				ACSM2B_ENST00000565232.1_Splice_Site_p.E428_splice|ACSM2B_ENST00000565322.1_Splice_Site_p.E349_splice|ACSM2B_ENST00000567001.1_Splice_Site_p.E428_splice	p.E428_splice	NM_001105069.1	NP_001098539.1	WXS	Illumina GAIIx	Phase_I	Q68CK6	ACS2B_HUMAN			11	1450	-			428					Q86YT1	Splice_Site	SNP	ENST00000329697.6	37	c.1281_splice	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.832750	0.00579	.	.	ENSG00000066813	ENST00000329697	T	0.43688	0.94	3.26	1.12	0.20585	AMP-dependent synthetase/ligase (1);	0.721394	0.11798	N	0.528403	T	0.19927	0.0479	N	0.04090	-0.28	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.05468	-1.0883	10	0.28530	T	0.3	-0.0081	9.2835	0.37742	0.0:0.8498:0.0:0.1502	.	428;428	A8K051;Q68CK6	.;ACS2B_HUMAN	K	428	ENSP00000327453:E428K	ENSP00000327453:E428K	E	-	1	0	ACSM2B	20462085	1.000000	0.71417	0.262000	0.24481	0.015000	0.08874	2.306000	0.43673	0.163000	0.19507	-0.320000	0.08662	GAA		0.483	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617	Missense_Mutation	4	174	0	0	0	1	0	4	174				
FPR1	2357	broad.mit.edu	37	19	52250087	52250087	+	Missense_Mutation	SNP	C	C	T	rs145808420		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:52250087C>T	ENST00000595042.1	-	3	302	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	FPR1_ENST00000304748.4_Missense_Mutation_p.R54Q	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	54					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GTGTGTCATCCGGAATCCAGC	0.527																																						ENST00000595042.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20						c.(160-162)cGg>cAg		formyl peptide receptor 1	Nedocromil(DB00716)	C	GLN/ARG,GLN/ARG	2,4404		0,2,2201	159.0	125.0	136.0		161,161	2.6	0.6	19	dbSNP_134	136	0,8600		0,0,4300	no	missense,missense	FPR1	NM_001193306.1,NM_002029.3	43,43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	54/351,54/351	52250087	2,13004	2203	4300	6503	SO:0001583	missense	2357				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52250087C>T	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.161G>A	19.37:g.52250087C>T	ENSP00000471493:p.Arg54Gln		Somatic				FPR1_ENST00000304748.4_Missense_Mutation_p.R54Q	p.R54Q	NM_001193306.1	NP_001180235.1	WXS	Illumina GAIIx	Phase_I	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	3	302	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	54					Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	c.161G>A	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	16.78	3.217300	0.58560	4.54E-4	0.0	ENSG00000171051	ENST00000304748	T	0.40756	1.02	3.67	2.62	0.31277	GPCR, rhodopsin-like superfamily (1);	0.431779	0.22832	N	0.055096	T	0.36358	0.0964	L	0.46741	1.465	0.30025	N	0.813958	P	0.44659	0.84	P	0.45343	0.477	T	0.25047	-1.0143	10	0.35671	T	0.21	.	6.6407	0.22906	0.0:0.7667:0.0:0.2333	.	54	P21462	FPR1_HUMAN	Q	54	ENSP00000302707:R54Q	ENSP00000302707:R54Q	R	-	2	0	FPR1	56941899	0.982000	0.34865	0.578000	0.28575	0.877000	0.50540	1.505000	0.35736	0.834000	0.34852	-0.244000	0.11960	CGG		0.527	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		12	1251	0	0	0	1	0	12	1251				
MYO18B	84700	broad.mit.edu	37	22	26219542	26219542	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr22:26219542G>T	ENST00000407587.2	+	13	2761	c.2592G>T	c.(2590-2592)gaG>gaT	p.E864D	MYO18B_ENST00000536101.1_Missense_Mutation_p.E864D|MYO18B_ENST00000335473.7_Missense_Mutation_p.E864D			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	864	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCGAGTATGAGGAGCTGAACA	0.572																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(2590-2592)gaG>gaT		myosin XVIIIB							140.0	140.0	140.0					22																	26219542		2091	4213	6304	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26219542G>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2592G>T	22.37:g.26219542G>T	ENSP00000386096:p.Glu864Asp		Somatic				MYO18B_ENST00000407587.2_Missense_Mutation_p.E864D|MYO18B_ENST00000536101.1_Missense_Mutation_p.E864D	p.E864D	NM_032608.5	NP_115997.5	WXS	Illumina GAIIx	Phase_I	Q8IUG5	MY18B_HUMAN			13	2842	+			864			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.2592G>T		.	.	.	.	.	.	.	.	.	.	G	15.22	2.769616	0.49680	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.72942	-0.7;-0.7;-0.7	4.63	2.48	0.30137	Myosin head, motor domain (2);	0.126087	0.50627	D	0.000110	T	0.73521	0.3597	L	0.38733	1.17	0.37427	D	0.913888	P;D;D;D	0.89917	0.77;0.966;1.0;0.957	B;P;D;P	0.83275	0.44;0.905;0.996;0.846	T	0.75783	-0.3196	10	0.59425	D	0.04	.	8.3102	0.32066	0.2685:0.0:0.7315:0.0	.	377;864;864;864	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	D	864	ENSP00000441229:E864D;ENSP00000334563:E864D;ENSP00000386096:E864D	ENSP00000334563:E864D	E	+	3	2	MYO18B	24549542	1.000000	0.71417	1.000000	0.80357	0.314000	0.28054	2.518000	0.45537	1.067000	0.40740	-0.404000	0.06349	GAG		0.572	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		5	423	1	0	1.024e-07	1	1.26509e-07	5	423				
TTF1	7270	broad.mit.edu	37	9	135266069	135266069	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:135266069G>A	ENST00000334270.2	-	7	2176	c.2137C>T	c.(2137-2139)Cgg>Tgg	p.R713W		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	713	Myb-like 2. {ECO:0000255|PROSITE- ProRule:PRU00133}.				chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		AGTTTTTCCCGAACAATTGAT	0.418																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2137-2139)Cgg>Tgg		transcription termination factor, RNA polymerase I							200.0	192.0	195.0					9																	135266069		2203	4300	6503	SO:0001583	missense	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135266069G>A	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.2137C>T	9.37:g.135266069G>A	ENSP00000333920:p.Arg713Trp		Somatic					p.R713W	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	WXS	Illumina GAIIx	Phase_I	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	7	2176	-		Myeloproliferative disorder(178;0.204)	713			Myb-like 2.		A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	c.2137C>T	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329224	0.60743	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.14893	2.47	5.76	3.87	0.44632	SANT domain, DNA binding (1);MYB-like (1);	0.082106	0.42964	D	0.000623	T	0.29158	0.0725	L	0.34521	1.04	0.39744	D	0.971793	D	0.89917	1.0	D	0.87578	0.998	T	0.03249	-1.1056	10	0.72032	D	0.01	.	11.3958	0.49841	0.0:0.0:0.6507:0.3493	.	713	Q15361	TTF1_HUMAN	W	713	ENSP00000333920:R713W	ENSP00000245588:R713W	R	-	1	2	TTF1	134255890	1.000000	0.71417	0.995000	0.50966	0.774000	0.43823	4.327000	0.59247	0.711000	0.32018	0.655000	0.94253	CGG		0.418	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		10	962	0	0	0	1	0	10	962				
SUV39H2	79723	broad.mit.edu	37	10	14939306	14939306	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:14939306T>A	ENST00000354919.6	+	3	639	c.639T>A	c.(637-639)aaT>aaA	p.N213K	SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000313519.5_Missense_Mutation_p.N153K	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	213	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						TGGCTTATAATAAAAACCAAC	0.393																																						ENST00000313519.5																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						c.(457-459)aaT>aaA		suppressor of variegation 3-9 homolog 2 (Drosophila)							114.0	111.0	112.0					10																	14939306		2203	4300	6503	SO:0001583	missense	79723				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding	g.chr10:14939306T>A	AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"""Chromatin-modifying enzymes / K-methyltransferases"""	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.639T>A	10.37:g.14939306T>A	ENSP00000346997:p.Asn213Lys		Somatic				SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000354919.6_Missense_Mutation_p.N213K	p.N153K	NM_001193425.1|NM_024670.3	NP_001180354.1|NP_078946.1	WXS	Illumina GAIIx	Phase_I	Q9H5I1	SUV92_HUMAN			2	690	+			213					D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Missense_Mutation	SNP	ENST00000354919.6	37	c.459T>A	CCDS53494.1	.	.	.	.	.	.	.	.	.	.	T	18.15	3.559467	0.65538	.	.	ENSG00000152455	ENST00000354919;ENST00000313519;ENST00000420416	T;T;T	0.75704	-0.96;-0.96;-0.96	5.86	2.26	0.28386	Pre-SET domain (2);	0.000000	0.85682	D	0.000000	T	0.79009	0.4374	M	0.75884	2.315	0.50813	D	0.999896	D	0.54964	0.969	P	0.53954	0.738	T	0.77245	-0.2659	10	0.59425	D	0.04	.	9.2823	0.37735	0.0:0.205:0.0:0.795	.	213	Q9H5I1	SUV92_HUMAN	K	213;153;153	ENSP00000346997:N213K;ENSP00000319208:N153K;ENSP00000392201:N153K	ENSP00000319208:N153K	N	+	3	2	SUV39H2	14979312	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.186000	0.50942	0.201000	0.20466	-0.297000	0.09499	AAT		0.393	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2	NM_024670		5	89	0	0	0	1	0	5	89				
OR1M1	125963	broad.mit.edu	37	19	9204294	9204294	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:9204294C>T	ENST00000429566.3	+	1	440	c.374C>T	c.(373-375)gCc>gTc	p.A125V		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CGGTTCGTGGCCATCTGCCAC	0.542																																						ENST00000429566.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(373-375)gCc>gTc		olfactory receptor, family 1, subfamily M, member 1							117.0	82.0	94.0					19																	9204294		2203	4300	6503	SO:0001583	missense	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204294C>T		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.374C>T	19.37:g.9204294C>T	ENSP00000401966:p.Ala125Val		Somatic					p.A125V	NM_001004456.1	NP_001004456.1	WXS	Illumina GAIIx	Phase_I	Q8NGA1	OR1M1_HUMAN			1	440	+			125					B9EHA6|Q6IFJ3|Q96R91	Missense_Mutation	SNP	ENST00000429566.3	37	c.374C>T	CCDS32896.1	.	.	.	.	.	.	.	.	.	.	c	21.4	4.147418	0.77888	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	T	0.01228	5.14	3.9	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000029	T	0.16938	0.0407	H	0.98866	4.355	0.48040	D	0.999571	D	0.69078	0.997	D	0.75020	0.985	T	0.39683	-0.9602	10	0.87932	D	0	.	15.0352	0.71741	0.0:1.0:0.0:0.0	.	125	Q8NGA1	OR1M1_HUMAN	V	128;125	ENSP00000401966:A125V	ENSP00000303195:A128V	A	+	2	0	OR1M1	9065294	1.000000	0.71417	0.983000	0.44433	0.414000	0.31173	4.598000	0.61069	2.180000	0.69256	0.645000	0.84053	GCC		0.542	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			4	239	0	0	0	1	0	4	239				
FRYL	285527	broad.mit.edu	37	4	48575226	48575226	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:48575226C>A	ENST00000503238.1	-	23	2880	c.2881G>T	c.(2881-2883)Gaa>Taa	p.E961*	FRYL_ENST00000537810.1_Nonsense_Mutation_p.E961*|FRYL_ENST00000507711.1_Nonsense_Mutation_p.E961*|FRYL_ENST00000358350.4_Nonsense_Mutation_p.E961*|FRYL_ENST00000264319.7_5'UTR|RNU5E-3P_ENST00000515913.1_RNA			O94915	FRYL_HUMAN	FRY-like	961					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCGAGTGCTTCTTTAATTATG	0.343																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(2881-2883)Gaa>Taa		FRY-like							107.0	109.0	108.0					4																	48575226		1873	4097	5970	SO:0001587	stop_gained	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48575226C>A	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.2881G>T	4.37:g.48575226C>A	ENSP00000426064:p.Glu961*		Somatic				FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Nonsense_Mutation_p.E961*|FRYL_ENST00000507711.1_Nonsense_Mutation_p.E961*|FRYL_ENST00000358350.4_Nonsense_Mutation_p.E961*	p.E961*			WXS	Illumina GAIIx	Phase_I	O94915	FRYL_HUMAN			26	3485	-			961					O95640|Q8WTZ5|Q9NT40	Nonsense_Mutation	SNP	ENST00000503238.1	37	c.2881G>T	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	47	13.127445	0.99721	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	.	.	.	5.8	5.8	0.92144	.	0.135098	0.48767	U	0.000178	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	20.0593	0.97671	0.0:1.0:0.0:0.0	.	.	.	.	X	961	.	ENSP00000351113:E961X	E	-	1	0	FRYL	48269983	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.406000	0.80017	2.737000	0.93849	0.655000	0.94253	GAA		0.343	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			14	74	1	0	1.64113e-05	1	1.92032e-05	14	74				
AP4B1	10717	broad.mit.edu	37	1	114437917	114437917	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:114437917C>A	ENST00000369569.1	-	10	2270	c.1990G>T	c.(1990-1992)Gtg>Ttg	p.V664L	AP4B1_ENST00000256658.4_Missense_Mutation_p.V664L|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.V496L|AP4B1_ENST00000462591.1_5'UTR	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	664					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-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)		TGGATGTTCACTACTTGAAGA	0.488																																						ENST00000369569.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(1990-1992)Gtg>Ttg		adaptor-related protein complex 4, beta 1 subunit							92.0	91.0	91.0					1																	114437917		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114437917C>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1990G>T	1.37:g.114437917C>A	ENSP00000358582:p.Val664Leu		Somatic				AP4B1_ENST00000369567.1_Missense_Mutation_p.V496L|AP4B1_ENST00000256658.4_Missense_Mutation_p.V664L|AP4B1_ENST00000462591.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA	p.V664L	NM_001253852.1	NP_001240781.1	WXS	Illumina GAIIx	Phase_I	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	2270	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	664					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.1990G>T	CCDS865.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500208	0.64298	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658	T;T;T	0.63744	-0.06;-0.04;-0.04	5.83	5.83	0.93111	Clathrin adaptor, beta-adaptin, appendage, C-terminal subdomain (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.058771	0.64402	D	0.000002	T	0.39627	0.1085	L	0.32530	0.975	0.80722	D	1	B;B	0.27416	0.178;0.085	B;B	0.27380	0.079;0.075	T	0.27054	-1.0085	10	0.21540	T	0.41	.	18.3076	0.90188	0.0:1.0:0.0:0.0	.	496;664	B1ALD0;Q9Y6B7	.;AP4B1_HUMAN	L	496;664;664	ENSP00000358580:V496L;ENSP00000358582:V664L;ENSP00000256658:V664L	ENSP00000256658:V664L	V	-	1	0	AP4B1	114239440	0.999000	0.42202	0.999000	0.59377	0.995000	0.86356	4.485000	0.60279	2.758000	0.94735	0.563000	0.77884	GTG		0.488	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		10	213	1	0	1.76689e-08	1	2.19353e-08	10	213				
CAPN2	824	broad.mit.edu	37	1	223954130	223954130	+	Silent	SNP	A	A	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:223954130A>C	ENST00000295006.5	+	16	2061	c.1752A>C	c.(1750-1752)ctA>ctC	p.L584L	CAPN2_ENST00000474026.1_3'UTR|CAPN2_ENST00000433674.2_Silent_p.L506L	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	584	Domain IV.|EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TTGACATGCTAGATGTATCCT	0.403																																						ENST00000295006.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29						c.(1750-1752)ctA>ctC		calpain 2, (m/II) large subunit							136.0	119.0	125.0					1																	223954130		2203	4300	6503	SO:0001819	synonymous_variant	824				proteolysis	cytoplasm|plasma membrane		g.chr1:223954130A>C	J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1752A>C	1.37:g.223954130A>C			Somatic				CAPN2_ENST00000433674.2_Silent_p.L506L|CAPN2_ENST00000474026.1_3'UTR	p.L584L	NM_001748.4	NP_001739.2	WXS	Illumina GAIIx	Phase_I	P17655	CAN2_HUMAN		GBM - Glioblastoma multiforme(131;0.109)	16	2061	+			584			Domain IV.|EF-hand 1.		A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Silent	SNP	ENST00000295006.5	37	c.1752A>C	CCDS31035.1																																																																																				0.403	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748		5	104	0	0	0	1	0	5	104				
GRXCR2	643226	broad.mit.edu	37	5	145252410	145252410	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:145252410T>C	ENST00000377976.1	-	1	121	c.122A>G	c.(121-123)gAa>gGa	p.E41G		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	41						cell projection (GO:0042995)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						TGACTCTAATTCCTGCCCATC	0.488																																						ENST00000377976.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						c.(121-123)gAa>gGa		glutaredoxin, cysteine rich 2							146.0	142.0	143.0					5																	145252410		2203	4300	6503	SO:0001583	missense	643226							g.chr5:145252410T>C		CCDS34263.1	5q32	2014-03-14			ENSG00000204928	ENSG00000204928			33862	protein-coding gene	gene with protein product		615762				24619944	Standard	NM_001080516		Approved	DFNB101	uc003lns.1	A6NFK2	OTTHUMG00000163417	ENST00000377976.1:c.122A>G	5.37:g.145252410T>C	ENSP00000367214:p.Glu41Gly		Somatic					p.E41G	NM_001080516.1	NP_001073985.1	WXS	Illumina GAIIx	Phase_I	A6NFK2	GRCR2_HUMAN			1	121	-			41						Missense_Mutation	SNP	ENST00000377976.1	37	c.122A>G	CCDS34263.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.086207	0.55861	.	.	ENSG00000204928	ENST00000377976	T	0.58797	0.31	5.73	5.73	0.89815	.	0.096816	0.64402	D	0.000001	T	0.71813	0.3384	M	0.64997	1.995	0.50171	D	0.999852	D	0.76494	0.999	D	0.69479	0.964	T	0.70245	-0.4925	10	0.35671	T	0.21	-28.6028	15.3006	0.73949	0.0:0.0:0.0:1.0	.	41	A6NFK2	GRCR2_HUMAN	G	41	ENSP00000367214:E41G	ENSP00000367214:E41G	E	-	2	0	GRXCR2	145232603	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	5.107000	0.64603	2.302000	0.77476	0.533000	0.62120	GAA		0.488	GRXCR2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373289.2			15	1222	0	0	0	1	0	15	1222				
F8	2157	broad.mit.edu	37	X	154221341	154221341	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:154221341C>A	ENST00000360256.4	-	4	671	c.471G>T	c.(469-471)tgG>tgT	p.W157C		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	157	F5/8 type A 1.|Plastocyanin-like 1.				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)			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)	TCAGGACCTGCCAGACATATG	0.448																																						ENST00000360256.4																			0				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						c.(469-471)tgG>tgT		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						260.0	234.0	243.0					X																	154221341		2203	4300	6503	SO:0001583	missense	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:154221341C>A	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.471G>T	X.37:g.154221341C>A	ENSP00000353393:p.Trp157Cys		Somatic					p.W157C	NM_000132.3	NP_000123.1	WXS	Illumina GAIIx	Phase_I	P00451	FA8_HUMAN			4	671	-	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)		157			F5/8 type A 1.|Plastocyanin-like 1.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.471G>T	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977669	0.74360	.	.	ENSG00000185010	ENST00000360256;ENST00000423959;ENST00000453950	D;D;D	0.99129	-5.46;-5.46;-5.46	5.35	5.35	0.76521	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99518	0.9828	H	0.97077	3.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98147	1.0439	10	0.87932	D	0	-6.5643	13.4297	0.61049	0.0:1.0:0.0:0.0	.	122;157	B1B0G8;P00451	.;FA8_HUMAN	C	157;122;151	ENSP00000353393:W157C;ENSP00000409446:W122C;ENSP00000389153:W151C	ENSP00000353393:W157C	W	-	3	0	F8	153874535	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.696000	0.74598	2.235000	0.73313	0.523000	0.50628	TGG		0.448	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			4	290	1	0	1	1	1	4	290				
GNL1	2794	broad.mit.edu	37	6	30520260	30520260	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:30520260C>T	ENST00000376621.3	-	8	2053	c.1083G>A	c.(1081-1083)gtG>gtA	p.V361V		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	361	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AGCCGATGGTCACCACCCCAT	0.572																																						ENST00000376621.3																			0				cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1081-1083)gtG>gtA		guanine nucleotide binding protein-like 1							165.0	136.0	146.0					6																	30520260		2203	4300	6503	SO:0001819	synonymous_variant	2794				response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity	g.chr6:30520260C>T		CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.1083G>A	6.37:g.30520260C>T			Somatic					p.V361V	NM_005275.3	NP_005266.2	WXS	Illumina GAIIx	Phase_I	P36915	GNL1_HUMAN			8	2053	-			361					B0S838|Q96CT5	Silent	SNP	ENST00000376621.3	37	c.1083G>A	CCDS4680.1																																																																																				0.572	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2			22	189	0	0	0	1	0	22	189				
IRF5	3663	broad.mit.edu	37	7	128587936	128587936	+	Missense_Mutation	SNP	G	G	A	rs144448991		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:128587936G>A	ENST00000402030.2	+	7	965	c.893G>A	c.(892-894)cGc>cAc	p.R298H	IRF5_ENST00000477535.1_Missense_Mutation_p.R212H|IRF5_ENST00000357234.5_Missense_Mutation_p.R314H|IRF5_ENST00000249375.4_Missense_Mutation_p.R298H|IRF5_ENST00000473745.1_Missense_Mutation_p.R298H	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	298					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						GAGCAAGTGCGCTTCCCCAGC	0.632																																						ENST00000402030.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						c.(892-894)cGc>cAc		interferon regulatory factor 5		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	49.0	52.0	51.0		893,941,893,635,893	5.1	1.0	7	dbSNP_134	51	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	IRF5	NM_001098627.2,NM_001098629.1,NM_001098630.1,NM_001242452.1,NM_032643.3	29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	298/499,314/515,298/499,212/413,298/499	128587936	1,13005	2203	4300	6503	SO:0001583	missense	3663				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:128587936G>A		CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.893G>A	7.37:g.128587936G>A	ENSP00000385352:p.Arg298His		Somatic				IRF5_ENST00000357234.5_Missense_Mutation_p.R314H|IRF5_ENST00000477535.1_Missense_Mutation_p.R212H|IRF5_ENST00000473745.1_Missense_Mutation_p.R298H|IRF5_ENST00000249375.4_Missense_Mutation_p.R298H	p.R298H	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	WXS	Illumina GAIIx	Phase_I	Q13568	IRF5_HUMAN			7	965	+			298					A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Missense_Mutation	SNP	ENST00000402030.2	37	c.893G>A	CCDS5808.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610722	0.66558	0.0	1.16E-4	ENSG00000128604	ENST00000357234;ENST00000477535;ENST00000402030;ENST00000249375;ENST00000473745;ENST00000412326	D;D;D;D;D	0.95069	-3.6;-3.6;-3.6;-3.6;-3.6	5.14	5.14	0.70334	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.092504	0.48286	D	0.000196	D	0.95424	0.8514	L	0.43757	1.38	0.44619	D	0.997596	D;D;P	0.89917	0.995;1.0;0.883	P;D;B	0.69307	0.69;0.963;0.202	D	0.94152	0.7406	10	0.30854	T	0.27	-5.0189	16.4637	0.84072	0.0:0.0:1.0:0.0	.	212;298;314	E7EW54;Q13568;Q13568-2	.;IRF5_HUMAN;.	H	314;212;298;298;298;288	ENSP00000349770:R314H;ENSP00000419950:R212H;ENSP00000385352:R298H;ENSP00000249375:R298H;ENSP00000419149:R298H	ENSP00000249375:R298H	R	+	2	0	IRF5	128375172	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	0.219000	0.17641	2.560000	0.86352	0.561000	0.74099	CGC		0.632	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350934.1	NM_001098627		8	34	0	0	0	1	0	8	34				
MAGI1	9223	broad.mit.edu	37	3	65342090	65342090	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:65342090C>T	ENST00000402939.2	-	23	4351	c.4352G>A	c.(4351-4353)cGa>cAa	p.R1451Q	MAGI1_ENST00000330909.8_3'UTR|RP11-88H12.2_ENST00000602316.1_RNA	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1480					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TTTGTAAGGTCGCCTTCTCTG	0.517																																						ENST00000402939.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(4351-4353)cGa>cAa		membrane associated guanylate kinase, WW and PDZ domain containing 1							123.0	124.0	124.0					3																	65342090		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65342090C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000402939.2:c.4352G>A	3.37:g.65342090C>T	ENSP00000385450:p.Arg1451Gln		Somatic				MAGI1_ENST00000330909.8_3'UTR	p.R1451Q	NM_001033057.1	NP_001028229.1	WXS	Illumina GAIIx	Phase_I	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	23	4351	-		Lung NSC(201;0.0016)	1480					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000402939.2	37	c.4352G>A	CCDS33780.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.932770	0.52866	.	.	ENSG00000151276	ENST00000402939	T	0.15139	2.45	5.55	5.55	0.83447	.	0.072198	0.49916	D	0.000122	T	0.22820	0.0551	L	0.32530	0.975	0.80722	D	1	D	0.62365	0.991	P	0.49708	0.62	T	0.00440	-1.1738	10	0.36615	T	0.2	-2.414	19.5097	0.95137	0.0:1.0:0.0:0.0	.	1451	Q96QZ7-2	.	Q	1451	ENSP00000385450:R1451Q	ENSP00000385450:R1451Q	R	-	2	0	MAGI1	65317130	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	4.316000	0.59178	2.608000	0.88229	0.655000	0.94253	CGA		0.517	MAGI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349126.1	NM_004742		4	196	0	0	0	1	0	4	196				
NAV1	89796	broad.mit.edu	37	1	201772738	201772738	+	Missense_Mutation	SNP	C	C	A	rs191072842		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:201772738C>A	ENST00000367296.4	+	16	3955	c.3535C>A	c.(3535-3537)Caa>Aaa	p.Q1179K	NAV1_ENST00000367302.1_Missense_Mutation_p.Q1135K|NAV1_ENST00000367297.4_Missense_Mutation_p.Q1171K|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.Q1179K|NAV1_ENST00000367295.1_Missense_Mutation_p.Q788K|NAV1_ENST00000367300.3_Missense_Mutation_p.Q1122K	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1179					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GATCAAGAGACAAAACTCCTC	0.443																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(3535-3537)Caa>Aaa		neuron navigator 1							99.0	84.0	89.0					1																	201772738		2203	4300	6503	SO:0001583	missense	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201772738C>A	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.3535C>A	1.37:g.201772738C>A	ENSP00000356265:p.Gln1179Lys		Somatic				NAV1_ENST00000295624.6_Missense_Mutation_p.Q1179K|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Missense_Mutation_p.Q1135K|NAV1_ENST00000367295.1_Missense_Mutation_p.Q788K|NAV1_ENST00000367300.3_Missense_Mutation_p.Q1122K|NAV1_ENST00000367297.4_Missense_Mutation_p.Q1171K	p.Q1179K	NM_020443.4	NP_065176.3	WXS	Illumina GAIIx	Phase_I	Q8NEY1	NAV1_HUMAN			16	3955	+			1179					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	c.3535C>A	CCDS1414.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	31|31|31	5.098918|5.098918|5.098918	0.94197|0.94197|0.94197	.|.|.	.|.|.	ENSG00000134369|ENSG00000134369|ENSG00000134369	ENST00000438083|ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295|ENST00000430015	.|D;D;D;D;D;D|.	.|0.93859|.	.|-3.3;-3.3;-3.3;-3.3;-3.3;-3.3|.	5.0|5.0|5.0	5.0|5.0|5.0	0.66597|0.66597|0.66597	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.77123|0.77123|0.77123	0.4084|0.4084|0.4084	M|M|M	0.77486|0.77486|0.77486	2.375|2.375|2.375	0.58432|0.58432|0.58432	D|D|D	0.999996|0.999996|0.999996	.|D;D;P;D|.	.|0.89917|.	.|0.998;1.0;0.934;0.998|.	.|D;D;D;D|.	.|0.80764|.	.|0.991;0.994;0.943;0.991|.	T|T|T	0.78107|0.78107|0.78107	-0.2333|-0.2333|-0.2333	5|10|5	.|0.87932|.	.|D|.	.|0|.	-23.7326|-23.7326|-23.7326	17.9614|17.9614|17.9614	0.89086|0.89086|0.89086	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|788;1179;704;1179|.	.|Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3|.	.|.;NAV1_HUMAN;.;.|.	E|K|K	161|1135;1179;1179;1171;1122;704;788|728	.|ENSP00000356271:Q1135K;ENSP00000356265:Q1179K;ENSP00000295624:Q1179K;ENSP00000356266:Q1171K;ENSP00000356269:Q1122K;ENSP00000356264:Q788K|.	.|ENSP00000295624:Q1179K|.	D|Q|T	+|+|+	3|1|2	2|0|0	NAV1|NAV1|NAV1	200039361|200039361|200039361	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	6.020000|6.020000|6.020000	0.70826|0.70826|0.70826	2.332000|2.332000|2.332000	0.79248|0.79248|0.79248	0.558000|0.558000|0.558000	0.71614|0.71614|0.71614	GAC|CAA|ACA		0.443	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		46	129	1	0	6.21074e-16	1	8.38532e-16	46	129				
HYAL1	3373	broad.mit.edu	37	3	50340148	50340148	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:50340148G>A	ENST00000266031.4	-	1	855	c.240C>T	c.(238-240)ggC>ggT	p.G80G	HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000320295.8_Silent_p.G80G|HYAL1_ENST00000457214.2_Intron|HYAL1_ENST00000395144.2_Silent_p.G80G|HYAL1_ENST00000395143.2_Silent_p.G80G			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	80					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to pH (GO:0071467)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal joint morphogenesis (GO:0060272)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|negative regulation of cell growth (GO:0030308)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of growth (GO:0045927)|positive regulation of hyaluranon cable assembly (GO:1900106)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hyaluranon cable (GO:0036117)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	hyaluronan synthase activity (GO:0050501)|hyalurononglucosaminidase activity (GO:0004415)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AGGGGTAGGTGCCCAGCTGGG	0.597																																						ENST00000266031.4																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11						c.(238-240)ggC>ggT		hyaluronoglucosaminidase 1	Hyaluronidase(DB00070)						61.0	61.0	61.0					3																	50340148		2203	4300	6503	SO:0001819	synonymous_variant	3373					extracellular space|lysosome	hyalurononglucosaminidase activity	g.chr3:50340148G>A	U90094	CCDS2816.1, CCDS2817.1, CCDS46832.1, CCDS46833.1	3p21.31	2014-07-17			ENSG00000114378	ENSG00000114378	3.2.1.35		5320	protein-coding gene	gene with protein product		607071				9223416, 9409739	Standard	NM_153281		Approved	LUCA1, HYAL-1, FUS2, NAT6	uc003czp.4	Q12794	OTTHUMG00000156941	ENST00000266031.4:c.240C>T	3.37:g.50340148G>A			Somatic				HYAL1_ENST00000395143.2_Silent_p.G80G|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000395144.2_Silent_p.G80G|HYAL1_ENST00000457214.2_Intron|HYAL1_ENST00000320295.8_Silent_p.G80G	p.G80G			WXS	Illumina GAIIx	Phase_I	Q12794	HYAL1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	1	855	-			80					Q6FH23|Q6PIZ6|Q7KYU2|Q7LE34|Q8NFK5|Q8NFK6|Q8NFK7|Q8NFK8|Q8NFK9|Q93013|Q9UKD5|Q9UNI8	Silent	SNP	ENST00000266031.4	37	c.240C>T	CCDS2816.1																																																																																				0.597	HYAL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346703.1			11	417	0	0	0	1	0	11	417				
XPO5	57510	broad.mit.edu	37	6	43515433	43515433	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:43515433T>C	ENST00000265351.7	-	19	2282	c.2072A>G	c.(2071-2073)gAt>gGt	p.D691G		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	691					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			AGCATCAACATCTGACAGCAC	0.458																																						ENST00000265351.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(2071-2073)gAt>gGt		exportin 5							96.0	91.0	93.0					6																	43515433		1961	4160	6121	SO:0001583	missense	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43515433T>C	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.2072A>G	6.37:g.43515433T>C	ENSP00000265351:p.Asp691Gly		Somatic					p.D691G	NM_020750.2	NP_065801.1	WXS	Illumina GAIIx	Phase_I	Q9HAV4	XPO5_HUMAN	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		19	2282	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		691					Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	37	c.2072A>G	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.979178	0.34942	.	.	ENSG00000124571	ENST00000265351;ENST00000436943;ENST00000372258;ENST00000439465	T	0.12465	2.68	5.69	5.69	0.88448	Armadillo-type fold (1);	0.106962	0.64402	D	0.000008	T	0.05456	0.0144	L	0.32530	0.975	0.53688	D	0.999972	B	0.06786	0.001	B	0.04013	0.001	T	0.20438	-1.0275	10	0.31617	T	0.26	-19.0848	14.5131	0.67802	0.0:0.0:0.0:1.0	.	691	Q9HAV4	XPO5_HUMAN	G	691;396;231;319	ENSP00000265351:D691G	ENSP00000265351:D691G	D	-	2	0	XPO5	43623411	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.676000	0.68131	2.162000	0.67917	0.533000	0.62120	GAT		0.458	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		5	244	0	0	0	1	0	5	244				
ADAMTS9	56999	broad.mit.edu	37	3	64601642	64601642	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:64601642C>A	ENST00000498707.1	-	20	3360	c.3018G>T	c.(3016-3018)tgG>tgT	p.W1006C	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.W978C	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1006	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTACTTCAGTCCAGGCAGAAT	0.498																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(3016-3018)tgG>tgT		ADAM metallopeptidase with thrombospondin type 1 motif, 9							156.0	146.0	150.0					3																	64601642		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64601642C>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.3018G>T	3.37:g.64601642C>A	ENSP00000418735:p.Trp1006Cys		Somatic				ADAMTS9_ENST00000295903.4_Missense_Mutation_p.W978C	p.W1006C	NM_182920.1	NP_891550.1	WXS	Illumina GAIIx	Phase_I	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	20	3360	-		Lung NSC(201;0.00682)	1006			TSP type-1 4.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.3018G>T	CCDS2903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.32|19.32	3.804648|3.804648	0.70682|0.70682	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000481060|ENST00000295903;ENST00000498707	.|T;T	.|0.77489	.|-1.1;-1.1	5.69|5.69	4.81|4.81	0.61882|0.61882	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93096|0.93096	0.7802|0.7802	H|H	0.98883|0.98883	4.36|4.36	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;1.0;0.999;1.0	D|D	0.95925|0.95925	0.8934|0.8934	5|10	.|0.87932	.|D	.|0	.|.	16.1395|16.1395	0.81513|0.81513	0.1345:0.8655:0.0:0.0|0.1345:0.8655:0.0:0.0	.|.	.|978;1006;1006;1006	.|B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.|.;.;.;ATS9_HUMAN	V|C	62|978;1006	.|ENSP00000295903:W978C;ENSP00000418735:W1006C	.|ENSP00000295903:W978C	G|W	-|-	2|3	0|0	ADAMTS9|ADAMTS9	64576682|64576682	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.876000|0.876000	0.50452|0.50452	7.399000|7.399000	0.79935|0.79935	1.388000|1.388000	0.46506|0.46506	0.561000|0.561000	0.74099|0.74099	GGA|TGG		0.498	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			5	418	1	0	6.5536e-12	1	8.64192e-12	5	418				
NLGN1	22871	broad.mit.edu	37	3	173322742	173322742	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:173322742C>A	ENST00000457714.1	+	3	783	c.354C>A	c.(352-354)ccC>ccA	p.P118P	NLGN1_ENST00000361589.4_Silent_p.P118P|NLGN1_ENST00000401917.3_Silent_p.P118P|NLGN1_ENST00000545397.1_Silent_p.P118P	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	118					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.P118P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CTGTGTGTCCCCAGAATATCA	0.478																																						ENST00000457714.1																			1	Substitution - coding silent(1)	p.P118P(1)	breast(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(352-354)ccC>ccA		neuroligin 1							173.0	167.0	169.0					3																	173322742		2203	4300	6503	SO:0001819	synonymous_variant	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173322742C>A	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.354C>A	3.37:g.173322742C>A			Somatic				NLGN1_ENST00000361589.4_Silent_p.P118P|NLGN1_ENST00000401917.3_Silent_p.P118P|NLGN1_ENST00000545397.1_Silent_p.P118P	p.P118P	NM_014932.2	NP_055747.1	WXS	Illumina GAIIx	Phase_I	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		3	783	+	Ovarian(172;0.0025)		118					Q9UPT2	Silent	SNP	ENST00000457714.1	37	c.354C>A	CCDS3222.1																																																																																				0.478	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		5	391	1	0	0.014758	1	0.0156823	5	391				
EPHA5	2044	broad.mit.edu	37	4	66467884	66467884	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:66467884C>A	ENST00000273854.3	-	3	985	c.385G>T	c.(385-387)Gaa>Taa	p.E129*	EPHA5_ENST00000354839.4_Nonsense_Mutation_p.E129*|EPHA5_ENST00000511294.1_Nonsense_Mutation_p.E129*|EPHA5_ENST00000432638.2_Nonsense_Mutation_p.E129*	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	129	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AATTTGAGTTCTATGAAGATT	0.423										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(385-387)Gaa>Taa		EPH receptor A5							88.0	93.0	91.0					4																	66467884		2203	4300	6503	SO:0001587	stop_gained	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66467884C>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.385G>T	4.37:g.66467884C>A	ENSP00000273854:p.Glu129*	TSP Lung(17;0.13)	Somatic				EPHA5_ENST00000354839.4_Nonsense_Mutation_p.E129*|EPHA5_ENST00000432638.2_Nonsense_Mutation_p.E129*|EPHA5_ENST00000511294.1_Nonsense_Mutation_p.E129*	p.E129*	NM_004439.5	NP_004430.4	WXS	Illumina GAIIx	Phase_I	P54756	EPHA5_HUMAN			3	985	-			129					Q7Z3F2	Nonsense_Mutation	SNP	ENST00000273854.3	37	c.385G>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	43	10.349019	0.99388	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	.	.	.	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.7821	0.96420	0.0:1.0:0.0:0.0	.	.	.	.	X	129	.	ENSP00000273854:E129X	E	-	1	0	EPHA5	66150479	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.818000	0.86416	2.682000	0.91365	0.655000	0.94253	GAA		0.423	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		35	135	1	0	1.07637e-12	1	1.43422e-12	35	135				
EDNRB	1910	broad.mit.edu	37	13	78492255	78492255	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr13:78492255C>T	ENST00000334286.5	-	1	690	c.454G>A	c.(454-456)Gtc>Atc	p.V152I	EDNRB_ENST00000377211.4_Missense_Mutation_p.V242I|RNF219-AS1_ENST00000607862.1_RNA|EDNRB_ENST00000446573.1_Missense_Mutation_p.V152I|EDNRB_ENST00000475537.1_5'Flank	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	152					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	ATGTCAATGACGATGTGCAGC	0.507																																						ENST00000377211.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42						c.(724-726)Gtc>Atc		endothelin receptor type B	Bosentan(DB00559)						127.0	119.0	122.0					13																	78492255		2203	4300	6503	SO:0001583	missense	1910				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	g.chr13:78492255C>T	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.454G>A	13.37:g.78492255C>T	ENSP00000335311:p.Val152Ile		Somatic				EDNRB_ENST00000446573.1_Missense_Mutation_p.V152I|EDNRB_ENST00000334286.5_Missense_Mutation_p.V152I	p.V242I	NM_001201397.1	NP_001188326.1	WXS	Illumina GAIIx	Phase_I	P24530	EDNRB_HUMAN		GBM - Glioblastoma multiforme(99;0.0933)	2	876	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	152					A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	ENST00000334286.5	37	c.724G>A	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	C	7.470	0.646472	0.14451	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.37058	1.22;1.22;1.22	5.05	-10.1	0.00402	GPCR, rhodopsin-like superfamily (1);	0.331356	0.35096	N	0.003460	T	0.12008	0.0292	N	0.13003	0.285	0.21740	N	0.99957	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.11329	0.001;0.004;0.006	T	0.39440	-0.9614	10	0.05351	T	0.99	-0.9619	11.3327	0.49485	0.0:0.5074:0.1014:0.3912	.	152;242;152	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	I	242;152;152	ENSP00000366416:V242I;ENSP00000403401:V152I;ENSP00000335311:V152I	ENSP00000335311:V152I	V	-	1	0	EDNRB	77390256	0.003000	0.15002	0.436000	0.26797	0.865000	0.49528	-1.297000	0.02759	-1.363000	0.02164	-1.202000	0.01658	GTC		0.507	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			11	364	0	0	0	1	0	11	364				
CHIA	27159	broad.mit.edu	37	1	111857217	111857217	+	Splice_Site	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:111857217C>T	ENST00000369740.1	+	5	416	c.313C>T	c.(313-315)Cct>Tct	p.P105S	CHIA_ENST00000430615.1_5'UTR|CHIA_ENST00000483391.1_5'UTR|CHIA_ENST00000353665.6_5'UTR|CHIA_ENST00000343320.6_Splice_Site_p.P105S|CHIA_ENST00000451398.2_5'UTR	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	105					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CGGGACTGCCCCGTAAGTCTT	0.453																																						ENST00000369740.1																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23						c.e5+1		chitinase, acidic							106.0	103.0	104.0					1																	111857217		1878	4109	5987	SO:0001630	splice_region_variant	27159				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	g.chr1:111857217C>T	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.314+1C>T	1.37:g.111857217C>T			Somatic				CHIA_ENST00000451398.2_5'UTR|CHIA_ENST00000483391.1_5'UTR|CHIA_ENST00000430615.1_5'UTR|CHIA_ENST00000343320.6_Splice_Site_p.P105_splice|CHIA_ENST00000353665.6_5'UTR	p.P105_splice	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	WXS	Illumina GAIIx	Phase_I	Q9BZP6	CHIA_HUMAN		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)	5	416	+		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)	105					Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Splice_Site	SNP	ENST00000369740.1	37	c.314_splice	CCDS41368.1	.	.	.	.	.	.	.	.	.	.	C	9.936	1.216289	0.22373	.	.	ENSG00000134216	ENST00000422815;ENST00000369740;ENST00000343320	T;T;T	0.05199	3.48;3.48;3.48	4.56	2.51	0.30379	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.687162	0.12992	N	0.422413	T	0.02455	0.0075	L	0.46819	1.47	0.80722	D	1	B	0.19445	0.036	B	0.19946	0.027	T	0.21895	-1.0232	10	0.39692	T	0.17	-1.1577	7.0651	0.25147	0.1699:0.7344:0.0:0.0957	.	105	Q9BZP6	CHIA_HUMAN	S	49;105;105	ENSP00000387671:P49S;ENSP00000358755:P105S;ENSP00000341828:P105S	ENSP00000341828:P105S	P	+	1	0	CHIA	111658740	0.002000	0.14202	0.990000	0.47175	0.355000	0.29361	0.472000	0.22116	1.029000	0.39812	0.462000	0.41574	CCT		0.453	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1		Missense_Mutation	11	32	0	0	0	1	0	11	32				
NCR1	9437	broad.mit.edu	37	19	55420787	55420787	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:55420787T>C	ENST00000291890.4	+	4	577	c.539T>C	c.(538-540)gTg>gCg	p.V180A	NCR1_ENST00000598576.1_Missense_Mutation_p.V168A|NCR1_ENST00000338835.5_Missense_Mutation_p.V180A|NCR1_ENST00000357397.5_Missense_Mutation_p.V73A|NCR1_ENST00000447255.1_Missense_Mutation_p.V180A|NCR1_ENST00000350790.5_Missense_Mutation_p.V85A|NCR1_ENST00000594765.1_Missense_Mutation_p.V180A	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	180	Ig-like 2.				cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CTGGGCCCTGTGACCACAGCC	0.577																																						ENST00000594765.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(538-540)gTg>gCg		natural cytotoxicity triggering receptor 1							91.0	86.0	88.0					19																	55420787		2203	4300	6503	SO:0001583	missense	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55420787T>C	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.539T>C	19.37:g.55420787T>C	ENSP00000291890:p.Val180Ala		Somatic				NCR1_ENST00000338835.5_Missense_Mutation_p.V180A|NCR1_ENST00000447255.1_Missense_Mutation_p.V180A|NCR1_ENST00000598576.1_Missense_Mutation_p.V168A|NCR1_ENST00000291890.4_Missense_Mutation_p.V180A|NCR1_ENST00000350790.5_Missense_Mutation_p.V85A|NCR1_ENST00000357397.5_Missense_Mutation_p.V73A	p.V180A			WXS	Illumina GAIIx	Phase_I	O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	4	564	+			180			Ig-like 2.		B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	c.539T>C	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	T	15.39	2.820211	0.50633	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835;ENST00000350790;ENST00000357397	T;T;T;T;T	0.05319	3.46;3.46;3.46;3.46;3.46	3.53	2.51	0.30379	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.313150	0.23129	N	0.051620	T	0.16128	0.0388	M	0.62088	1.915	0.09310	N	1	D;D;D;D;D;D	0.76494	0.998;0.999;0.998;0.999;0.997;0.987	D;D;D;D;D;D	0.79784	0.982;0.983;0.977;0.99;0.993;0.969	T	0.04029	-1.0983	10	0.40728	T	0.16	.	5.4913	0.16777	0.0:0.1281:0.0:0.8719	.	73;85;180;85;180;180	O76036-5;B0V3L4;B0V3L5;B0V3L2;O76036-6;O76036	.;.;.;.;.;NCTR1_HUMAN	A	180;180;180;85;73	ENSP00000291890:V180A;ENSP00000404434:V180A;ENSP00000339515:V180A;ENSP00000344358:V85A;ENSP00000349972:V73A	ENSP00000291890:V180A	V	+	2	0	NCR1	60112599	0.803000	0.28956	0.010000	0.14722	0.189000	0.23516	2.685000	0.46959	0.735000	0.32537	0.482000	0.46254	GTG		0.577	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			4	139	0	0	0	1	0	4	139				
PLCB4	5332	broad.mit.edu	37	20	9424630	9424630	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:9424630A>T	ENST00000378493.1	+	27	2746	c.2731A>T	c.(2731-2733)Att>Ttt	p.I911F	PLCB4_ENST00000414679.2_Missense_Mutation_p.I923F|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.I923F|PLCB4_ENST00000378501.2_Missense_Mutation_p.I911F|PLCB4_ENST00000278655.4_Missense_Mutation_p.I911F|PLCB4_ENST00000334005.3_Missense_Mutation_p.I911F			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	911					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTGTTTAGGTATTGAACTTAT	0.313																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(2731-2733)Att>Ttt		phospholipase C, beta 4							101.0	100.0	101.0					20																	9424630		2203	4298	6501	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9424630A>T		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2731A>T	20.37:g.9424630A>T	ENSP00000367754:p.Ile911Phe		Somatic				PLCB4_ENST00000414679.2_Missense_Mutation_p.I923F|PLCB4_ENST00000378493.1_Missense_Mutation_p.I911F|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.I911F|PLCB4_ENST00000278655.4_Missense_Mutation_p.I911F|PLCB4_ENST00000378473.3_Missense_Mutation_p.I923F	p.I911F	NM_000933.3	NP_000924.3	WXS	Illumina GAIIx	Phase_I	Q15147	PLCB4_HUMAN			27	2746	+			911					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.2731A>T	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	A	13.65	2.301099	0.40694	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.61392	2.14;2.15;0.11;0.11;2.14;1.96	5.56	5.56	0.83823	.	0.361157	0.31323	N	0.007852	T	0.41026	0.1141	N	0.08118	0	0.51767	D	0.999936	B;B;P;B	0.37176	0.0;0.04;0.586;0.0	B;B;B;B	0.38378	0.002;0.013;0.272;0.003	T	0.44832	-0.9302	10	0.40728	T	0.16	.	15.7086	0.77606	1.0:0.0:0.0:0.0	.	923;758;911;911	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	F	911;923;911;911;911;759	ENSP00000334105:I911F;ENSP00000367734:I923F;ENSP00000278655:I911F;ENSP00000367754:I911F;ENSP00000367762:I911F;ENSP00000390616:I759F	ENSP00000278655:I911F	I	+	1	0	PLCB4	9372630	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.465000	0.53064	2.113000	0.64589	0.528000	0.53228	ATT		0.313	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			4	131	0	0	0	1	0	4	131				
RERG	85004	broad.mit.edu	37	12	15262356	15262356	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:15262356C>A	ENST00000256953.2	-	5	624	c.288G>T	c.(286-288)ctG>ctT	p.L96L	RERG_ENST00000538313.1_Silent_p.L96L|RERG-IT1_ENST00000539734.1_RNA|RERG_ENST00000536465.1_Silent_p.L96L|RERG_ENST00000546331.1_Silent_p.L77L	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	96					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						TCTTAAGTGGCAGCACTTCCT	0.488																																						ENST00000256953.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(286-288)ctG>ctT		RAS-like, estrogen-regulated, growth inhibitor							313.0	314.0	313.0					12																	15262356		2203	4300	6503	SO:0001819	synonymous_variant	85004				negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity	g.chr12:15262356C>A	AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.288G>T	12.37:g.15262356C>A			Somatic				RERG_ENST00000536465.1_Silent_p.L96L|RERG_ENST00000546331.1_Silent_p.L77L|RERG_ENST00000538313.1_Silent_p.L96L	p.L96L	NM_032918.2	NP_116307.1	WXS	Illumina GAIIx	Phase_I	Q96A58	RERG_HUMAN			5	624	-			96					B2R9R0|B4DI02	Silent	SNP	ENST00000256953.2	37	c.288G>T	CCDS8673.1																																																																																				0.488	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1	NM_032918		70	706	1	0	9.2564e-22	1	1.27683e-21	70	706				
ADCY8	114	broad.mit.edu	37	8	131896926	131896926	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:131896926C>T	ENST00000286355.5	-	8	4085	c.1993G>A	c.(1993-1995)Gag>Aag	p.E665K	ADCY8_ENST00000377928.3_Missense_Mutation_p.E665K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	665					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTAATTTCCTCAGGCCCAGAC	0.438										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1993-1995)Gag>Aag		adenylate cyclase 8 (brain)							153.0	146.0	148.0					8																	131896926		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131896926C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1993G>A	8.37:g.131896926C>T	ENSP00000286355:p.Glu665Lys	HNSCC(32;0.087)	Somatic				ADCY8_ENST00000377928.3_Missense_Mutation_p.E665K	p.E665K	NM_001115.2	NP_001106.1	WXS	Illumina GAIIx	Phase_I	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		8	4085	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		665						Missense_Mutation	SNP	ENST00000286355.5	37	c.1993G>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823683	0.71143	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	D;D	0.81659	-1.52;-1.52	6.02	6.02	0.97574	.	0.095518	0.64402	D	0.000001	T	0.75140	0.3809	L	0.29908	0.895	0.45250	D	0.998259	B;B	0.26445	0.149;0.053	B;B	0.32211	0.142;0.032	T	0.68044	-0.5513	10	0.23891	T	0.37	.	19.5289	0.95219	0.0:1.0:0.0:0.0	.	665;665	E7EVL1;P40145	.;ADCY8_HUMAN	K	665	ENSP00000286355:E665K;ENSP00000367161:E665K	ENSP00000286355:E665K	E	-	1	0	ADCY8	131966108	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.437000	0.66544	2.865000	0.98341	0.655000	0.94253	GAG		0.438	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			4	258	0	0	0	1	0	4	258				
CYP27A1	1593	broad.mit.edu	37	2	219677361	219677361	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:219677361G>A	ENST00000258415.4	+	4	1160	c.733G>A	c.(733-735)Ggg>Agg	p.G245R		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	245					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	CAGATCCATCGGGTTAATGTT	0.542																																						ENST00000258415.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26						c.(733-735)Ggg>Agg		cytochrome P450, family 27, subfamily A, polypeptide 1	Cholecalciferol(DB00169)						293.0	279.0	283.0					2																	219677361		2203	4300	6503	SO:0001583	missense	1593				bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding	g.chr2:219677361G>A	BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"""Cytochrome P450s"""	2605	protein-coding gene	gene with protein product	"""cerebrotendinous xanthomatosis"""	606530	"""cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"""	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.733G>A	2.37:g.219677361G>A	ENSP00000258415:p.Gly245Arg		Somatic					p.G245R	NM_000784.3	NP_000775.1	WXS	Illumina GAIIx	Phase_I	Q02318	CP27A_HUMAN		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	4	1160	+		Renal(207;0.0474)	245					A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	ENST00000258415.4	37	c.733G>A	CCDS2423.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638949	0.47153	.	.	ENSG00000135929	ENST00000258415;ENST00000411688	T;T	0.68331	-0.32;-0.32	6.15	5.26	0.73747	.	0.687740	0.15167	N	0.276843	T	0.70527	0.3234	L	0.58428	1.81	0.09310	N	1	D	0.59767	0.986	P	0.52758	0.708	T	0.62695	-0.6800	10	0.46703	T	0.11	-13.3933	9.5132	0.39089	0.0802:0.1812:0.7386:0.0	.	245	Q02318	CP27A_HUMAN	R	245;151	ENSP00000258415:G245R;ENSP00000392671:G151R	ENSP00000258415:G245R	G	+	1	0	CYP27A1	219385605	0.163000	0.22920	0.017000	0.16124	0.140000	0.21249	2.817000	0.48034	1.510000	0.48803	0.643000	0.83706	GGG		0.542	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4			5	641	0	0	0	1	0	5	641				
SMARCA4	6597	broad.mit.edu	37	19	11137010	11137010	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:11137010G>A	ENST00000429416.3	+	24	3484	c.3203G>A	c.(3202-3204)gGc>gAc	p.G1068D	SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1068D|SMARCA4_ENST00000358026.2_Missense_Mutation_p.G1068D|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1068D|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1068D|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1068D|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1068D|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1068D|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1068D	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1068					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTCACTGGCGGCATTGTCCAA	0.592			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(3202-3204)gGc>gAc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							81.0	69.0	73.0					19																	11137010		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11137010G>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3203G>A	19.37:g.11137010G>A	ENSP00000395654:p.Gly1068Asp		Somatic				SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1068D|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1068D|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1068D|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1068D|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G1068D|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1068D|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1068D|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1068D	p.G1068D	NM_001128849.1	NP_001122321.1	WXS	Illumina GAIIx	Phase_I	P51532	SMCA4_HUMAN			23	3487	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1068					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3203G>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709455	0.48517	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85;-0.85;-0.85	4.49	4.49	0.54785	.	0.060357	0.64402	D	0.000003	T	0.75606	0.3872	L	0.61036	1.89	0.58432	D	0.999999	P;P;P;B;P;P;B;B	0.45396	0.738;0.857;0.738;0.003;0.738;0.613;0.384;0.384	B;P;B;B;B;B;B;B	0.44811	0.382;0.461;0.382;0.008;0.382;0.288;0.273;0.273	T	0.80233	-0.1467	10	0.66056	D	0.02	-29.5641	16.1707	0.81812	0.0:0.0:1.0:0.0	.	1068;1068;1068;1068;1068;288;1068;1068	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	D	1068;1068;1132;1068;1068;1068;1068;1068	ENSP00000395654:G1068D;ENSP00000350720:G1068D;ENSP00000343896:G1068D;ENSP00000445036:G1068D;ENSP00000392837:G1068D;ENSP00000397783:G1068D;ENSP00000414727:G1068D	ENSP00000343896:G1068D	G	+	2	0	SMARCA4	10998010	1.000000	0.71417	0.998000	0.56505	0.519000	0.34347	9.104000	0.94239	2.351000	0.79841	0.555000	0.69702	GGC		0.592	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		3	107	0	0	0	1	0	3	107				
FOXJ2	55810	broad.mit.edu	37	12	8196343	8196343	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:8196343G>T	ENST00000162391.3	+	4	1600	c.455G>T	c.(454-456)aGa>aTa	p.R152I	FOXJ2_ENST00000428177.2_Missense_Mutation_p.R152I	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	152					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TCCCGAAAGAGAAGACACCCT	0.483																																						ENST00000162391.3																			0				autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16						c.(454-456)aGa>aTa		forkhead box J2							172.0	167.0	169.0					12																	8196343		2203	4300	6503	SO:0001583	missense	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr12:8196343G>T	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.455G>T	12.37:g.8196343G>T	ENSP00000162391:p.Arg152Ile		Somatic				FOXJ2_ENST00000428177.2_Missense_Mutation_p.R152I	p.R152I	NM_018416.2	NP_060886.1	WXS	Illumina GAIIx	Phase_I	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	4	1600	+			152					A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	c.455G>T	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984933	0.74474	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.96168	-3.7;-3.93	5.05	4.15	0.48705	Transcription factor, fork head (1);	0.157695	0.44483	D	0.000443	D	0.90703	0.7083	L	0.27053	0.805	0.58432	D	0.999998	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	D	0.86669	0.1909	10	0.62326	D	0.03	.	10.8945	0.47015	0.0:0.0:0.8122:0.1878	.	152;152	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	I	152	ENSP00000162391:R152I;ENSP00000403411:R152I	ENSP00000162391:R152I	R	+	2	0	FOXJ2	8087610	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.660000	0.54496	1.100000	0.41517	0.561000	0.74099	AGA		0.483	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		5	638	1	0	0.0293803	1	0.0307708	5	638				
SNHG14	104472715	broad.mit.edu	37	15	25304766	25304766	+	RNA	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:25304766G>A	ENST00000549804.2	+	0	159				SNORD116-5_ENST00000384462.1_RNA|SNORD116-3_ENST00000384287.1_RNA|SNHG14_ENST00000384733.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		GTCGTTCTCAGCGGAACTGAG	0.517																																						ENST00000549804.2																			0																				168.0	154.0	158.0					15																	25304766		876	1991	2867			104472715							g.chr15:25304766G>A			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.25304766G>A			Somatic				SNHG14_ENST00000384733.1_RNA				WXS	Illumina GAIIx	Phase_I					0	159	+									RNA	SNP	ENST00000549804.2	37																																																																																						0.517	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			4	350	0	0	0	1	0	4	350				
USP34	9736	broad.mit.edu	37	2	61417421	61417421	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:61417421A>G	ENST00000398571.2	-	78	9934	c.9858T>C	c.(9856-9858)agT>agC	p.S3286S	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3286					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTAAAGAAGCACTTGCTTTGG	0.408																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(9856-9858)agT>agC		ubiquitin specific peptidase 34							127.0	118.0	121.0					2																	61417421		1834	4096	5930	SO:0001819	synonymous_variant	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61417421A>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.9858T>C	2.37:g.61417421A>G			Somatic					p.S3286S	NM_014709.3	NP_055524.3	WXS	Illumina GAIIx	Phase_I	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		78	9934	-			3286					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	c.9858T>C	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	.	8.356	0.832019	0.16820	.	.	ENSG00000115464	ENST00000411912	.	.	.	5.63	4.48	0.54585	.	.	.	.	.	T	0.58637	0.2136	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55573	-0.8120	4	.	.	.	.	8.0869	0.30777	0.773:0.0:0.227:0.0	.	.	.	.	R	963	.	.	C	-	1	0	USP34	61270925	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.995000	0.49441	1.083000	0.41159	-0.254000	0.11334	TGC		0.408	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			8	410	0	0	0	1	0	8	410				
OR7G2	390882	broad.mit.edu	37	19	9213196	9213196	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:9213196C>A	ENST00000305456.2	-	1	786	c.787G>T	c.(787-789)Ggg>Tgg	p.G263W		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						AGGTGAGACCCACAGGTGGAA	0.473																																					Esophageal Squamous(67;143 1448 28637 40648)	ENST00000305456.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						c.(787-789)Ggg>Tgg		olfactory receptor, family 7, subfamily G, member 2							116.0	104.0	108.0					19																	9213196		2203	4300	6503	SO:0001583	missense	390882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9213196C>A		CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"""GPCR / Class A : Olfactory receptors"""	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.787G>T	19.37:g.9213196C>A	ENSP00000303822:p.Gly263Trp		Somatic					p.G263W	NM_001005193.1	NP_001005193.1	WXS	Illumina GAIIx	Phase_I	Q8NG99	OR7G2_HUMAN			1	786	-			242					Q6IFJ4|Q96RA0	Missense_Mutation	SNP	ENST00000305456.2	37	c.787G>T	CCDS32897.1	.	.	.	.	.	.	.	.	.	.	c	7.313	0.615464	0.14129	.	.	ENSG00000170923	ENST00000305456	T	0.37915	1.17	3.14	3.14	0.36123	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38164	U	0.001789	T	0.68641	0.3023	H	0.98577	4.27	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63079	-0.6717	10	0.87932	D	0	.	4.8242	0.13408	0.0:0.6552:0.223:0.1218	.	242	Q8NG99	OR7G2_HUMAN	W	263	ENSP00000303822:G263W	ENSP00000303822:G263W	G	-	1	0	OR7G2	9074196	0.000000	0.05858	0.990000	0.47175	0.043000	0.13939	-0.838000	0.04372	2.115000	0.64714	0.447000	0.29281	GGG		0.473	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448994.1			7	186	1	0	0.00448238	1	0.00489599	7	186				
FLVCR2	55640	broad.mit.edu	37	14	76088498	76088498	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:76088498A>G	ENST00000238667.4	+	2	1102	c.746A>G	c.(745-747)cAc>cGc	p.H249R	FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000553587.1_5'UTR|FLVCR2_ENST00000539311.1_Missense_Mutation_p.H44R|FLVCR2_ENST00000556856.1_5'UTR	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	249					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CTTGCCTACCACATCAGCATC	0.478																																						ENST00000238667.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(745-747)cAc>cGc		feline leukemia virus subgroup C cellular receptor family, member 2							244.0	219.0	227.0					14																	76088498		2203	4300	6503	SO:0001583	missense	55640				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	g.chr14:76088498A>G	AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.746A>G	14.37:g.76088498A>G	ENSP00000238667:p.His249Arg		Somatic				FLVCR2_ENST00000556856.1_5'UTR|FLVCR2_ENST00000539311.1_Missense_Mutation_p.H44R|FLVCR2_ENST00000553587.1_5'UTR|FLVCR2_ENST00000556241.1_3'UTR	p.H249R	NM_017791.2	NP_060261.2	WXS	Illumina GAIIx	Phase_I	Q9UPI3	FLVC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	2	1102	+			249					B7Z485|Q53ZT9|Q96JY3|Q9NX90	Missense_Mutation	SNP	ENST00000238667.4	37	c.746A>G	CCDS9844.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.124549	0.56613	.	.	ENSG00000119686	ENST00000238667;ENST00000539311	T;T	0.58652	0.32;0.32	5.86	5.86	0.93980	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.045313	0.85682	D	0.000000	T	0.56615	0.1997	M	0.68952	2.095	0.80722	D	1	B;B	0.18741	0.03;0.007	B;B	0.22152	0.038;0.026	T	0.52888	-0.8515	10	0.20046	T	0.44	-4.986	15.2278	0.73364	1.0:0.0:0.0:0.0	.	44;249	B7Z485;Q9UPI3	.;FLVC2_HUMAN	R	249;44	ENSP00000238667:H249R;ENSP00000443439:H44R	ENSP00000238667:H249R	H	+	2	0	AC007182.1	75158251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.414000	0.90238	2.241000	0.73720	0.533000	0.62120	CAC		0.478	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791		8	783	0	0	0	1	0	8	783				
GRM7	2917	broad.mit.edu	37	3	7620404	7620404	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:7620404C>T	ENST00000357716.4	+	8	2085	c.1811C>T	c.(1810-1812)gCc>gTc	p.A604V	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Missense_Mutation_p.A604V|GRM7_ENST00000486284.1_Missense_Mutation_p.A604V|GRM7_ENST00000389336.4_Missense_Mutation_p.A604V|GRM7_ENST00000402647.2_Missense_Mutation_p.A604V	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	604					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						GGGATCATTGCCACCATCTTT	0.522																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(1810-1812)gCc>gTc		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						103.0	107.0	106.0					3																	7620404		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7620404C>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1811C>T	3.37:g.7620404C>T	ENSP00000350348:p.Ala604Val		Somatic				GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.A604V|GRM7_ENST00000403881.1_Missense_Mutation_p.A604V|GRM7_ENST00000402647.2_Missense_Mutation_p.A604V|GRM7_ENST00000357716.4_Missense_Mutation_p.A604V	p.A604V	NM_181874.2	NP_870989.1	WXS	Illumina GAIIx	Phase_I	Q14831	GRM7_HUMAN			8	2085	+			604					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.1811C>T	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867160	0.72065	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36	5.93	5.93	0.95920	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92391	0.7585	L	0.54323	1.7	0.80722	D	1	B;D;D;D;B	0.76494	0.356;0.996;0.999;0.997;0.313	P;D;D;D;B	0.83275	0.549;0.98;0.996;0.989;0.23	D	0.87943	0.2718	10	0.09843	T	0.71	.	18.9177	0.92512	0.0:1.0:0.0:0.0	.	604;604;359;604;604	B7ZKK0;Q14831-5;Q59G95;Q14831;Q14831-2	.;.;.;GRM7_HUMAN;.	V	604	ENSP00000350348:A604V;ENSP00000417536:A604V;ENSP00000373987:A604V;ENSP00000385664:A604V;ENSP00000384585:A604V	ENSP00000350348:A604V	A	+	2	0	GRM7	7595404	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.094000	0.71431	2.826000	0.97356	0.655000	0.94253	GCC		0.522	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		4	122	0	0	0	1	0	4	122				
DLEC1	9940	broad.mit.edu	37	3	38158135	38158135	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:38158135G>A	ENST00000308059.6	+	28	4069	c.4048G>A	c.(4048-4050)Gaa>Aaa	p.E1350K	DLEC1_ENST00000346219.3_Missense_Mutation_p.E1350K|DLEC1_ENST00000452631.2_Missense_Mutation_p.E1353K					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ATTCAGCCATGAAACTGACTC	0.627																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(4048-4050)Gaa>Aaa		deleted in lung and esophageal cancer 1							57.0	57.0	57.0					3																	38158135		1949	4133	6082	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38158135G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.4048G>A	3.37:g.38158135G>A	ENSP00000308597:p.Glu1350Lys		Somatic				DLEC1_ENST00000346219.3_Missense_Mutation_p.E1350K|DLEC1_ENST00000452631.2_Missense_Mutation_p.E1353K	p.E1350K			WXS	Illumina GAIIx	Phase_I	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	28	4069	+			1350						Missense_Mutation	SNP	ENST00000308059.6	37	c.4048G>A	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	3.880	-0.026197	0.07589	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05319	3.48;3.46;3.7	4.65	2.82	0.32997	.	1.823620	0.02868	N	0.131149	T	0.05547	0.0146	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.10296	0.001;0.001;0.003;0.001	B;B;B;B	0.08055	0.003;0.002;0.003;0.003	T	0.43702	-0.9375	10	0.06236	T	0.91	0.0041	6.9323	0.24447	0.2229:0.0:0.7771:0.0	.	1353;1350;1350;1350	F8W6T4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;DLEC1_HUMAN	K	1350;1350;1353	ENSP00000308597:E1350K;ENSP00000315914:E1350K;ENSP00000410427:E1353K	ENSP00000308597:E1350K	E	+	1	0	DLEC1	38133139	0.001000	0.12720	0.002000	0.10522	0.073000	0.16967	0.789000	0.26886	0.483000	0.27608	0.313000	0.20887	GAA		0.627	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		4	165	0	0	0	1	0	4	165				
ACAD9	28976	broad.mit.edu	37	3	128623348	128623348	+	Splice_Site	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:128623348G>T	ENST00000308982.7	+	11	1230	c.1149G>T	c.(1147-1149)aaG>aaT	p.K383N	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	383						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CCATGGTGAAGGTAACCCTGG	0.567																																						ENST00000308982.7																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						c.e11+1		acyl-CoA dehydrogenase family, member 9							42.0	37.0	39.0					3																	128623348		2203	4300	6503	SO:0001630	splice_region_variant	28976					mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:128623348G>T	AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"""Mitochondrial respiratory chain complex assembly factors"""	21497	protein-coding gene	gene with protein product		611103	"""acyl-Coenzyme A dehydrogenase family, member 9"""			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.1149+1G>T	3.37:g.128623348G>T			Somatic				ACAD9_ENST00000511526.1_3'UTR	p.K383_splice	NM_014049.4	NP_054768.2	WXS	Illumina GAIIx	Phase_I	Q9H845	ACAD9_HUMAN			11	1230	+			383					D3DNB8|Q8WXX3	Splice_Site	SNP	ENST00000308982.7	37	c.1149_splice	CCDS3053.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846556	0.91277	.	.	ENSG00000177646	ENST00000308982;ENST00000334167	D	0.99545	-6.13	5.7	5.7	0.88788	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	H	0.99273	4.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	D	0.96660	0.9488	10	0.87932	D	0	.	17.3409	0.87296	0.0:0.0:1.0:0.0	.	260;383	Q9H9W4;Q9H845	.;ACAD9_HUMAN	N	383;250	ENSP00000312618:K383N	ENSP00000312618:K383N	K	+	3	2	ACAD9	130106038	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.009000	0.76347	2.688000	0.91661	0.655000	0.94253	AAG		0.567	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358405.1	NM_014049	Missense_Mutation	3	101	1	0	0.014758	1	0.0156823	3	101				
MAP3K9	4293	broad.mit.edu	37	14	71199307	71199307	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:71199307G>A	ENST00000554752.2	-	11	2778	c.2779C>T	c.(2779-2781)Cta>Tta	p.L927L	MAP3K9_ENST00000555993.2_Silent_p.L941L|MAP3K9_ENST00000554146.1_Silent_p.L655L|MAP3K9_ENST00000553414.1_Silent_p.L660L|MAP3K9_ENST00000381250.4_Silent_p.L904L	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	927	Pro-rich.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CTGCTGGCTAGGAGAGTCTCT	0.597																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(2779-2781)Cta>Tta		mitogen-activated protein kinase kinase kinase 9							64.0	74.0	71.0					14																	71199307		2203	4300	6503	SO:0001819	synonymous_variant	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71199307G>A	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.2779C>T	14.37:g.71199307G>A			Somatic				MAP3K9_ENST00000381250.4_Silent_p.L904L|MAP3K9_ENST00000553414.1_Silent_p.L660L|MAP3K9_ENST00000554146.1_Silent_p.L655L|MAP3K9_ENST00000555993.2_Silent_p.L941L	p.L927L			WXS	Illumina GAIIx	Phase_I	P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	11	2778	-			927			Pro-rich.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Silent	SNP	ENST00000554752.2	37	c.2779C>T																																																																																					0.597	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			3	68	0	0	0	1	0	3	68				
KLHL40	131377	broad.mit.edu	37	3	42730412	42730412	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:42730412G>A	ENST00000287777.4	+	4	1573	c.1473G>A	c.(1471-1473)aaG>aaA	p.K491K		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	491					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											TTGAGTGGAAGGAGCTGGCAC	0.607																																						ENST00000287777.4																			0											c.(1471-1473)aaG>aaA		kelch-like family member 40							75.0	74.0	74.0					3																	42730412		2203	4300	6503	SO:0001819	synonymous_variant	131377							g.chr3:42730412G>A	AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"""Kelch-like"", ""BTB/POZ domain containing"""	30372	protein-coding gene	gene with protein product	"""sarcosynapsin"", ""nemaline myopathy type 8"""	615340	"""kelch repeat and BTB (POZ) domain containing 5"", ""kelch-like 40 (Drosophila)"""	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.1473G>A	3.37:g.42730412G>A			Somatic					p.K491K	NM_152393.2	NP_689606.2	WXS	Illumina GAIIx	Phase_I					4	1573	+								Q86SI1|Q96MR2	Silent	SNP	ENST00000287777.4	37	c.1473G>A	CCDS2703.1																																																																																				0.607	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256651.1	NM_152393		4	163	0	0	0	1	0	4	163				
SLC5A11	115584	broad.mit.edu	37	16	24887048	24887048	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:24887048T>C	ENST00000347898.3	+	6	1095	c.473T>C	c.(472-474)aTc>aCc	p.I158T	SLC5A11_ENST00000565769.1_Missense_Mutation_p.I94T|SLC5A11_ENST00000569071.1_Missense_Mutation_p.I94T|SLC5A11_ENST00000568579.1_Intron|SLC5A11_ENST00000424767.2_Intron|SLC5A11_ENST00000545376.1_Intron|SLC5A11_ENST00000539472.1_Missense_Mutation_p.I94T|SLC5A11_ENST00000567758.1_Intron|SLC5A11_ENST00000449109.2_Missense_Mutation_p.I94T	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TTCACCAAGATCTCGGTAAGG	0.527																																						ENST00000347898.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49						c.(472-474)aTc>aCc		solute carrier family 5 (sodium/inositol cotransporter), member 11							110.0	88.0	95.0					16																	24887048		2197	4300	6497	SO:0001583	missense	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24887048T>C	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.473T>C	16.37:g.24887048T>C	ENSP00000289932:p.Ile158Thr		Somatic				SLC5A11_ENST00000568579.1_Intron|SLC5A11_ENST00000565769.1_Missense_Mutation_p.I94T|SLC5A11_ENST00000569071.1_Missense_Mutation_p.I94T|SLC5A11_ENST00000539472.1_Missense_Mutation_p.I94T|SLC5A11_ENST00000567758.1_Intron|SLC5A11_ENST00000424767.2_Intron|SLC5A11_ENST00000545376.1_Intron|SLC5A11_ENST00000449109.2_Missense_Mutation_p.I94T	p.I158T	NM_052944.3	NP_443176.2	WXS	Illumina GAIIx	Phase_I	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	6	1095	+			158						Missense_Mutation	SNP	ENST00000347898.3	37	c.473T>C	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.031057	0.75504	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000539472	D;D;D	0.89415	-2.51;-2.51;-2.51	4.28	4.28	0.50868	.	0.048543	0.85682	D	0.000000	D	0.92880	0.7735	M	0.72479	2.2	0.80722	D	1	D;D	0.76494	0.962;0.999	P;D	0.72625	0.805;0.978	D	0.93016	0.6436	10	0.62326	D	0.03	.	11.3541	0.49605	0.0:0.0:0.0:1.0	.	158;94	Q8WWX8;Q05BF1	SC5AB_HUMAN;.	T	158;94;94	ENSP00000289932:I158T;ENSP00000389606:I94T;ENSP00000441018:I94T	ENSP00000289932:I158T	I	+	2	0	SLC5A11	24794549	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.070000	0.76763	1.564000	0.49628	0.459000	0.35465	ATC		0.527	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		4	375	0	0	0	1	0	4	375				
DLG5	9231	broad.mit.edu	37	10	79553848	79553848	+	Silent	SNP	C	C	T	rs538641768		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:79553848C>T	ENST00000372391.2	-	31	5579	c.5574G>A	c.(5572-5574)agG>agA	p.R1858R	DLG5_ENST00000459739.1_5'UTR|RP13-39P12.3_ENST00000434097.2_RNA|RP13-39P12.3_ENST00000601701.1_RNA|DLG5_ENST00000372388.2_Silent_p.R1518R	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1858	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCACCTTGTCCCTCAGGTAGA	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		19945	0.0		0.0	False		,,,				2504	0.001					ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(5572-5574)agG>agA		discs, large homolog 5 (Drosophila)							235.0	192.0	206.0					10																	79553848		2203	4300	6503	SO:0001819	synonymous_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79553848C>T	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.5574G>A	10.37:g.79553848C>T			Somatic				DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.R1518R	p.R1858R	NM_004747.3	NP_004738.3	WXS	Illumina GAIIx	Phase_I	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		31	5579	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1858			Guanylate kinase-like.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	c.5574G>A	CCDS7353.2																																																																																				0.592	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			7	838	0	0	0	1	0	7	838				
SLC25A12	8604	broad.mit.edu	37	2	172641944	172641944	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:172641944G>A	ENST00000422440.2	-	18	1914	c.1877C>T	c.(1876-1878)gCa>gTa	p.A626V	SLC25A12_ENST00000392592.4_Missense_Mutation_p.A519V	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	626					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	AGGAAGGTCTGCAATGCGTGA	0.498																																						ENST00000422440.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23						c.(1876-1878)gCa>gTa		solute carrier family 25 (aspartate/glutamate carrier), member 12	L-Aspartic Acid(DB00128)						210.0	188.0	195.0					2																	172641944		2203	4300	6503	SO:0001583	missense	8604				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	g.chr2:172641944G>A	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.1877C>T	2.37:g.172641944G>A	ENSP00000388658:p.Ala626Val		Somatic				SLC25A12_ENST00000392592.4_Missense_Mutation_p.A519V	p.A626V	NM_003705.4	NP_003696.2	WXS	Illumina GAIIx	Phase_I	O75746	CMC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		18	1914	-			626					B3KR64|Q96AM8	Missense_Mutation	SNP	ENST00000422440.2	37	c.1877C>T	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801546	0.50315	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.78707	-1.2;-1.18	6.02	6.02	0.97574	.	0.353820	0.32473	N	0.006058	T	0.69806	0.3152	N	0.22421	0.69	0.39627	D	0.970121	B;B	0.16166	0.016;0.002	B;B	0.17098	0.017;0.004	T	0.62840	-0.6769	10	0.37606	T	0.19	-7.6827	20.547	0.99278	0.0:0.0:1.0:0.0	.	519;626	B3KR64;O75746	.;CMC1_HUMAN	V	626;519	ENSP00000388658:A626V;ENSP00000376371:A519V	ENSP00000376371:A519V	A	-	2	0	SLC25A12	172350190	0.939000	0.31865	1.000000	0.80357	0.998000	0.95712	2.370000	0.44240	2.850000	0.98022	0.650000	0.86243	GCA		0.498	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705		4	81	0	0	0	1	0	4	81				
PDS5A	23244	broad.mit.edu	37	4	39910035	39910035	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:39910035C>A	ENST00000303538.8	-	11	1752	c.1213G>T	c.(1213-1215)Gaa>Taa	p.E405*	PDS5A_ENST00000503396.1_Nonsense_Mutation_p.E405*	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						AGTGTTCTTTCCCTTACAAAG	0.363																																						ENST00000303538.8																			0				breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						c.(1213-1215)Gaa>Taa		PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)							207.0	203.0	204.0					4																	39910035		1841	4085	5926	SO:0001587	stop_gained	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39910035C>A	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.1213G>T	4.37:g.39910035C>A	ENSP00000303427:p.Glu405*		Somatic				PDS5A_ENST00000503396.1_Nonsense_Mutation_p.E405*	p.E405*	NM_001100399.1	NP_001093869.1	WXS	Illumina GAIIx	Phase_I	Q29RF7	PDS5A_HUMAN			11	1752	-			405						Nonsense_Mutation	SNP	ENST00000303538.8	37	c.1213G>T	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	C	43	10.477874	0.99412	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	.	.	.	4.89	4.89	0.63831	.	0.060068	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.7113	18.0427	0.89323	0.0:1.0:0.0:0.0	.	.	.	.	X	405	.	.	E	-	1	0	PDS5A	39586430	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.798000	0.85924	2.254000	0.74563	0.557000	0.71058	GAA		0.363	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		4	192	1	0	0.000602214	1	0.000670738	4	192				
MYO19	80179	broad.mit.edu	37	17	34861237	34861237	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:34861237G>T	ENST00000431794.3	-	19	2326	c.1804C>A	c.(1804-1806)Ctg>Atg	p.L602M	MYO19_ENST00000268852.9_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	602	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AGCTGCTCCAGTGAGGCCTGC	0.592																																						ENST00000431794.3																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20						c.(1804-1806)Ctg>Atg		myosin XIX							94.0	86.0	88.0					17																	34861237		1568	3582	5150	SO:0001583	missense	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34861237G>T	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.1804C>A	17.37:g.34861237G>T	ENSP00000409936:p.Leu602Met		Somatic				MYO19_ENST00000268852.9_Intron	p.L602M	NM_001163735.1	NP_001157207.1	WXS	Illumina GAIIx	Phase_I	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	19	2326	-		Breast(25;0.00957)|Ovarian(249;0.17)	602			Myosin head-like.		Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	c.1804C>A	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312029	0.81358	.	.	ENSG00000141140	ENST00000431794	D	0.89810	-2.57	5.53	4.56	0.56223	Myosin head, motor domain (2);	.	.	.	.	D	0.93618	0.7962	M	0.74389	2.26	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94157	0.7411	9	0.87932	D	0	.	13.1998	0.59761	0.0775:0.0:0.9224:0.0	.	602	Q96H55	MYO19_HUMAN	M	602	ENSP00000409936:L602M	ENSP00000409936:L602M	L	-	1	2	MYO19	31935350	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	5.742000	0.68646	1.462000	0.47948	0.563000	0.77884	CTG		0.592	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		3	20	1	0	0.00024832	1	0.000280255	3	20				
HSPG2	3339	broad.mit.edu	37	1	22203096	22203096	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:22203096T>G	ENST00000374695.3	-	22	2814	c.2735A>C	c.(2734-2736)cAc>cCc	p.H912P		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	912	Laminin EGF-like 4; truncated. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGTACTCAGGTGGAAAGAGCC	0.592																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(2734-2736)cAc>cCc		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						110.0	84.0	93.0					1																	22203096		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22203096T>G	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.2735A>C	1.37:g.22203096T>G	ENSP00000363827:p.His912Pro		Somatic					p.H912P	NM_005529.5	NP_005520.4	WXS	Illumina GAIIx	Phase_I	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	22	2814	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	912			Laminin EGF-like 4; truncated.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.2735A>C	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	T	15.68	2.904100	0.52333	.	.	ENSG00000142798	ENST00000374695	T	0.62639	0.01	5.01	5.01	0.66863	EGF-like, laminin (3);	0.000000	0.42053	D	0.000767	T	0.72542	0.3473	M	0.86268	2.805	0.50813	D	0.999892	P	0.47484	0.896	P	0.49192	0.602	T	0.78468	-0.2192	10	0.87932	D	0	.	12.6902	0.56970	0.0:0.0:0.0:1.0	.	912	P98160	PGBM_HUMAN	P	912	ENSP00000363827:H912P	ENSP00000363827:H912P	H	-	2	0	HSPG2	22075683	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	7.151000	0.77411	1.896000	0.54893	0.459000	0.35465	CAC		0.592	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		4	17	0	0	0	1	0	4	17				
OR11L1	391189	broad.mit.edu	37	1	248004813	248004813	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:248004813G>A	ENST00000355784.2	-	1	441	c.386C>T	c.(385-387)cCa>cTa	p.P129L		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	129						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTAGCGGAGTGGGCTGCAGAT	0.602																																						ENST00000355784.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(385-387)cCa>cTa		olfactory receptor, family 11, subfamily L, member 1							46.0	42.0	44.0					1																	248004813		2203	4300	6503	SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004813G>A	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.386C>T	1.37:g.248004813G>A	ENSP00000348033:p.Pro129Leu		Somatic					p.P129L	NM_001001959.1	NP_001001959.1	WXS	Illumina GAIIx	Phase_I	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	441	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		129						Missense_Mutation	SNP	ENST00000355784.2	37	c.386C>T	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163944	0.57476	.	.	ENSG00000197591	ENST00000355784	T	0.01902	4.57	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36268	U	0.002694	T	0.15955	0.0384	M	0.93550	3.43	0.58432	D	0.999996	P	0.47409	0.895	P	0.56916	0.809	T	0.03017	-1.1082	10	0.87932	D	0	.	17.1903	0.86877	0.0:0.0:1.0:0.0	.	129	Q8NGX0	O11L1_HUMAN	L	129	ENSP00000348033:P129L	ENSP00000348033:P129L	P	-	2	0	OR11L1	246071436	1.000000	0.71417	0.700000	0.30305	0.039000	0.13416	6.706000	0.74649	2.450000	0.82876	0.543000	0.68304	CCA		0.602	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		4	73	0	0	0	1	0	4	73				
TRIM31	11074	broad.mit.edu	37	6	30071491	30071491	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:30071491G>T	ENST00000376734.3	-	9	1225	c.1100C>A	c.(1099-1101)gCt>gAt	p.A367D	TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000485864.1_5'Flank|TRIM31_ENST00000540829.1_Missense_Mutation_p.A367D	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	367					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						GACTTTCCCAGCAGACGAGGC	0.532																																						ENST00000376734.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						c.(1099-1101)gCt>gAt		tripartite motif containing 31							125.0	133.0	130.0					6																	30071491		1510	2709	4219	SO:0001583	missense	11074					mitochondrion	ligase activity|zinc ion binding	g.chr6:30071491G>T	AF230386	CCDS34374.1	6p21.3	2013-01-09	2011-01-25		ENSG00000204616	ENSG00000204616		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16289	protein-coding gene	gene with protein product		609316	"""tripartite motif-containing 31"""			11331580	Standard	XM_006714977		Approved	RNF, HCGI, C6orf13, HCG1	uc003npg.1	Q9BZY9	OTTHUMG00000031064	ENST00000376734.3:c.1100C>A	6.37:g.30071491G>T	ENSP00000365924:p.Ala367Asp		Somatic				TRIM31_ENST00000540829.1_Missense_Mutation_p.A367D	p.A367D	NM_007028.3	NP_008959.3	WXS	Illumina GAIIx	Phase_I	Q9BZY9	TRI31_HUMAN			9	1225	-			367					A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	Missense_Mutation	SNP	ENST00000376734.3	37	c.1100C>A	CCDS34374.1	.	.	.	.	.	.	.	.	.	.	G	8.395	0.840583	0.16891	.	.	ENSG00000204616	ENST00000376734;ENST00000376728;ENST00000540829	T;T	0.68331	-0.32;-0.32	2.25	-1.1	0.09872	.	.	.	.	.	T	0.24122	0.0584	N	0.08118	0	0.09310	N	1	D	0.63046	0.992	P	0.48738	0.588	T	0.09729	-1.0661	9	0.30078	T	0.28	.	2.0528	0.03574	0.3696:0.0:0.3759:0.2545	.	367	Q9BZY9	TRI31_HUMAN	D	367	ENSP00000365924:A367D;ENSP00000444311:A367D	ENSP00000365918:A367D	A	-	2	0	TRIM31	30179470	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.164000	0.09983	-0.307000	0.08804	0.579000	0.79373	GCT		0.532	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076081.2			101	300	1	0	2.07075e-64	1	3.0201e-64	101	300				
AHNAK	79026	broad.mit.edu	37	11	62299309	62299309	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:62299309G>A	ENST00000378024.4	-	5	2854	c.2580C>T	c.(2578-2580)gaC>gaT	p.D860D	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	860					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGACATCAATGTCCATTTTGG	0.453																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(2578-2580)gaC>gaT		AHNAK nucleoprotein							211.0	220.0	217.0					11																	62299309		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62299309G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.2580C>T	11.37:g.62299309G>A			Somatic				AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.D860D	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	2854	-		Melanoma(852;0.155)	860					A1A586	Silent	SNP	ENST00000378024.4	37	c.2580C>T	CCDS31584.1																																																																																				0.453	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		5	502	0	0	0	1	0	5	502				
STYXL1	51657	broad.mit.edu	37	7	75633083	75633083	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:75633083G>T	ENST00000248600.1	-	7	1032	c.690C>A	c.(688-690)caC>caA	p.H230Q	STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000431581.1_Missense_Mutation_p.H230Q|STYXL1_ENST00000359697.3_Missense_Mutation_p.H230Q|STYXL1_ENST00000451157.1_Missense_Mutation_p.H230Q|STYXL1_ENST00000340062.5_Missense_Mutation_p.H134Q	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	230	Tyrosine-protein phosphatase.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						TACCAATGAAGTGACACATGT	0.547																																						ENST00000451157.1																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						c.(688-690)caC>caA		serine/threonine/tyrosine interacting-like 1							122.0	93.0	103.0					7																	75633083		2203	4300	6503	SO:0001583	missense	51657				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity	g.chr7:75633083G>T	AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	18165	protein-coding gene	gene with protein product			"""dual specificity phosphatase 24 (putative)"""	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.690C>A	7.37:g.75633083G>T	ENSP00000248600:p.His230Gln		Somatic				STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000248600.1_Missense_Mutation_p.H230Q|STYXL1_ENST00000431581.1_Missense_Mutation_p.H230Q|STYXL1_ENST00000340062.5_Missense_Mutation_p.H134Q|STYXL1_ENST00000359697.3_Missense_Mutation_p.H230Q	p.H230Q			WXS	Illumina GAIIx	Phase_I	Q9Y6J8	STYL1_HUMAN			7	859	-			230			Tyrosine-protein phosphatase.		Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Missense_Mutation	SNP	ENST00000248600.1	37	c.690C>A	CCDS5580.1	.	.	.	.	.	.	.	.	.	.	G	9.542	1.113540	0.20795	.	.	ENSG00000127952	ENST00000248600;ENST00000359697;ENST00000340062;ENST00000404050;ENST00000431581;ENST00000454618;ENST00000451157	T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26	3.74	0.876	0.19138	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.400007	0.29791	N	0.011184	T	0.54775	0.1879	L	0.27975	0.815	0.80722	D	1	D;B;D;D;B;B	0.89917	1.0;0.098;0.999;0.98;0.056;0.034	D;B;D;P;B;B	0.77004	0.984;0.076;0.989;0.773;0.071;0.063	T	0.48658	-0.9016	10	0.22109	T	0.4	-31.1127	6.0983	0.20033	0.3332:0.0:0.6668:0.0	.	230;230;230;134;230;134	Q9Y6J8-3;C9J4H0;Q9Y6J8-2;Q9Y6J8-4;Q9Y6J8;Q7Z3H6	.;.;.;.;STYL1_HUMAN;.	Q	230;230;134;230;230;185;230	ENSP00000248600:H230Q;ENSP00000352726:H230Q;ENSP00000343383:H134Q;ENSP00000392221:H230Q;ENSP00000406073:H185Q;ENSP00000411812:H230Q	ENSP00000248600:H230Q	H	-	3	2	STYXL1	75471019	1.000000	0.71417	0.982000	0.44146	0.699000	0.40488	1.574000	0.36482	0.180000	0.19960	0.563000	0.77884	CAC		0.547	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344825.1	NM_016086		7	108	1	0	5.4927e-09	1	6.92026e-09	7	108				
AGBL5	60509	broad.mit.edu	37	2	27276327	27276327	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:27276327C>T	ENST00000360131.4	+	3	432	c.273C>T	c.(271-273)aaC>aaT	p.N91N	AGBL5_ENST00000323064.8_Silent_p.N91N|RP11-503P10.1_ENST00000607407.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	91					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAAGATCAACATTATGAACA	0.542																																						ENST00000360131.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28						c.(271-273)aaC>aaT		ATP/GTP binding protein-like 5							116.0	108.0	111.0					2																	27276327		2203	4300	6503	SO:0001819	synonymous_variant	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27276327C>T	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.273C>T	2.37:g.27276327C>T			Somatic				AGBL5_ENST00000323064.8_Silent_p.N91N	p.N91N	NM_021831.5	NP_068603.4	WXS	Illumina GAIIx	Phase_I	Q8NDL9	CBPC5_HUMAN			3	432	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		91					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Silent	SNP	ENST00000360131.4	37	c.273C>T	CCDS1732.3																																																																																				0.542	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		3	71	0	0	0	1	0	3	71				
FAM222A	84915	broad.mit.edu	37	12	110205834	110205834	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:110205834G>A	ENST00000538780.1	+	3	816	c.100G>A	c.(100-102)Gcc>Acc	p.A34T	FAM222A-AS1_ENST00000541460.1_RNA|FAM222A-AS1_ENST00000541723.1_RNA|FAM222A_ENST00000358906.3_Missense_Mutation_p.A34T	NM_032829.2	NP_116218.2	Q5U5X8	F222A_HUMAN	family with sequence similarity 222, member A	34																	GGTGGCCAGCGCCATGCATTC	0.652																																						ENST00000538780.1																			0											c.(100-102)Gcc>Acc		family with sequence similarity 222, member A							59.0	54.0	56.0					12																	110205834		2203	4300	6503	SO:0001583	missense	84915							g.chr12:110205834G>A	AK027627	CCDS9133.1	12q24.11	2012-04-27	2012-04-27	2012-04-27	ENSG00000139438	ENSG00000139438			25915	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 34"""	C12orf34		12477932	Standard	NM_032829		Approved	FLJ14721	uc001tpd.2	Q5U5X8	OTTHUMG00000169260	ENST00000538780.1:c.100G>A	12.37:g.110205834G>A	ENSP00000443292:p.Ala34Thr		Somatic				FAM222A-AS1_ENST00000541460.1_RNA|FAM222A-AS1_ENST00000541723.1_RNA|FAM222A_ENST00000358906.3_Missense_Mutation_p.A34T	p.A34T	NM_032829.2	NP_116218.2	WXS	Illumina GAIIx	Phase_I	Q5U5X8	CL034_HUMAN			3	816	+			34					Q8NCD5|Q96SP6	Missense_Mutation	SNP	ENST00000538780.1	37	c.100G>A	CCDS9133.1	.	.	.	.	.	.	.	.	.	.	G	5.130	0.209566	0.09757	.	.	ENSG00000139438	ENST00000538780;ENST00000358906	T;T	0.29397	1.57;1.57	3.16	2.0	0.26442	.	0.218997	0.38326	N	0.001729	T	0.12050	0.0293	N	0.08118	0	0.24665	N	0.993447	B	0.23058	0.079	B	0.20767	0.031	T	0.14309	-1.0477	10	0.31617	T	0.26	-22.2481	2.8961	0.05691	0.0:0.2398:0.2649:0.4953	.	34	Q5U5X8	CL034_HUMAN	T	34	ENSP00000443292:A34T;ENSP00000351783:A34T	ENSP00000351783:A34T	A	+	1	0	C12orf34	108690217	0.997000	0.39634	1.000000	0.80357	0.757000	0.42996	0.557000	0.23454	0.322000	0.23283	0.305000	0.20034	GCC		0.652	FAM222A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403175.1	NM_032829		37	3004	0	0	0	1	0	37	3004				
HTR1A	3350	broad.mit.edu	37	5	63256443	63256443	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:63256443C>T	ENST00000323865.3	-	1	1337	c.1104G>A	c.(1102-1104)ctG>ctA	p.L368L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	368					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CGCAGAAGGGCAGAACAAGAG	0.572																																						ENST00000323865.3																			0				cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(1102-1104)ctG>ctA		5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						127.0	132.0	130.0					5																	63256443		2203	4300	6503	SO:0001819	synonymous_variant	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256443C>T	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.1104G>A	5.37:g.63256443C>T			Somatic				RP11-158J3.2_ENST00000502882.1_RNA	p.L368L	NM_000524.3	NP_000515.2	WXS	Illumina GAIIx	Phase_I	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	1337	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	368					Q6LAE7	Silent	SNP	ENST00000323865.3	37	c.1104G>A	CCDS34168.1																																																																																				0.572	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		7	567	0	0	0	1	0	7	567				
CDK4	1019	broad.mit.edu	37	12	58145072	58145072	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:58145072A>G	ENST00000257904.6	-	3	637	c.272T>C	c.(271-273)cTg>cCg	p.L91P	CDK4_ENST00000549606.1_Intron|CDK4_ENST00000312990.6_Intron|CDK4_ENST00000540325.1_Intron|CDK4_ENST00000551888.1_Intron	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	91	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)			CTCAAACACCAGGGTTACCTT	0.532			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.(271-273)cTg>cCg		cyclin-dependent kinase 4							181.0	153.0	162.0					12																	58145072		2203	4300	6503	SO:0001583	missense	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.chr12:58145072A>G	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.272T>C	12.37:g.58145072A>G	ENSP00000257904:p.Leu91Pro		Somatic				CDK4_ENST00000312990.6_Intron|CDK4_ENST00000551888.1_Intron|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000540325.1_Intron	p.L91P	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)		3	637	-	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)		91			Protein kinase.		B2R9A0|B4DNF9|O00576|Q6FG61	Missense_Mutation	SNP	ENST00000257904.6	37	c.272T>C	CCDS8953.1	.	.	.	.	.	.	.	.	.	.	A	19.21	3.784400	0.70222	.	.	ENSG00000135446	ENST00000257904;ENST00000546489;ENST00000547281;ENST00000551800;ENST00000552254;ENST00000552388;ENST00000552862	T;T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;1.58;1.58;1.58	4.92	4.92	0.64577	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000011	T	0.76506	0.3997	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80997	-0.1132	10	0.87932	D	0	.	8.6065	0.33775	0.9126:0.0:0.0874:0.0	.	91	P11802	CDK4_HUMAN	P	91;17;17;17;91;91;91	ENSP00000257904:L91P;ENSP00000447779:L17P;ENSP00000447274:L17P;ENSP00000449391:L17P;ENSP00000449179:L91P;ENSP00000448963:L91P;ENSP00000446763:L91P	ENSP00000257904:L91P	L	-	2	0	CDK4	56431339	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.078000	0.76821	2.196000	0.70406	0.460000	0.39030	CTG		0.532	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408790.2	NM_000075		5	460	0	0	0	1	0	5	460				
TMEM33	55161	broad.mit.edu	37	4	41956089	41956089	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:41956089C>A	ENST00000504986.1	+	7	982	c.617C>A	c.(616-618)aCc>aAc	p.T206N	TMEM33_ENST00000513702.1_Missense_Mutation_p.T206N|TMEM33_ENST00000325094.5_Missense_Mutation_p.T206N	NM_018126.2	NP_060596.2	P57088	TMM33_HUMAN	transmembrane protein 33	206						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						TCTTGCAGGACCTTATTTAAT	0.343																																						ENST00000504986.1																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						c.(616-618)aCc>aAc		transmembrane protein 33							140.0	139.0	139.0					4																	41956089		2203	4300	6503	SO:0001583	missense	55161					integral to membrane|melanosome	protein binding	g.chr4:41956089C>A	BC000948	CCDS3464.1	4p14	2008-02-05			ENSG00000109133	ENSG00000109133			25541	protein-coding gene	gene with protein product						12477932	Standard	NM_018126		Approved	FLJ10525	uc003gwi.2	P57088	OTTHUMG00000099381	ENST00000504986.1:c.617C>A	4.37:g.41956089C>A	ENSP00000422473:p.Thr206Asn		Somatic				TMEM33_ENST00000513702.1_Missense_Mutation_p.T206N|TMEM33_ENST00000325094.5_Missense_Mutation_p.T206N	p.T206N	NM_018126.2	NP_060596.2	WXS	Illumina GAIIx	Phase_I	P57088	TMM33_HUMAN			7	982	+			206					B3KSS8|Q9H953	Missense_Mutation	SNP	ENST00000504986.1	37	c.617C>A	CCDS3464.1	.	.	.	.	.	.	.	.	.	.	C	1.416	-0.574143	0.03882	.	.	ENSG00000109133	ENST00000504986;ENST00000508448;ENST00000513702;ENST00000325094	.	.	.	5.67	3.79	0.43588	.	0.137592	0.64402	N	0.000003	T	0.26702	0.0653	N	0.13198	0.31	0.49299	D	0.999776	B	0.29909	0.261	B	0.19666	0.026	T	0.08743	-1.0707	9	0.06625	T	0.88	-4.7095	8.5291	0.33324	0.1781:0.7378:0.0:0.0842	.	206	P57088	TMM33_HUMAN	N	206	.	ENSP00000441455:T206N	T	+	2	0	TMEM33	41650846	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	2.933000	0.48948	0.608000	0.30000	0.467000	0.42956	ACC		0.343	TMEM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216834.2	NM_018126		4	85	1	0	8.12818e-05	1	9.29718e-05	4	85				
SORBS2	8470	broad.mit.edu	37	4	186536215	186536215	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:186536215G>T	ENST00000284776.7	-	16	3247	c.2738C>A	c.(2737-2739)cCg>cAg	p.P913Q	SORBS2_ENST00000449407.2_Missense_Mutation_p.P457Q|SORBS2_ENST00000393528.3_Missense_Mutation_p.P479Q|SORBS2_ENST00000418609.1_Missense_Mutation_p.P817Q|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000431808.1_Missense_Mutation_p.P913Q|SORBS2_ENST00000448662.2_Missense_Mutation_p.P474Q|SORBS2_ENST00000437304.2_Missense_Mutation_p.P637Q|SORBS2_ENST00000355634.5_Missense_Mutation_p.P1013Q|SORBS2_ENST00000319471.9_Missense_Mutation_p.P544Q	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	913	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GTATGAGATCGGGAAGATGCC	0.443																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(2737-2739)cCg>cAg		sorbin and SH3 domain containing 2							144.0	135.0	138.0					4																	186536215		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186536215G>T		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2738C>A	4.37:g.186536215G>T	ENSP00000284776:p.Pro913Gln		Somatic				SORBS2_ENST00000418609.1_Missense_Mutation_p.P817Q|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000448662.2_Missense_Mutation_p.P474Q|SORBS2_ENST00000284776.7_Missense_Mutation_p.P913Q|SORBS2_ENST00000319471.9_Missense_Mutation_p.P544Q|SORBS2_ENST00000393528.3_Missense_Mutation_p.P479Q|SORBS2_ENST00000355634.5_Missense_Mutation_p.P1013Q|SORBS2_ENST00000437304.2_Missense_Mutation_p.P637Q|SORBS2_ENST00000449407.2_Missense_Mutation_p.P457Q	p.P913Q			WXS	Illumina GAIIx	Phase_I	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	17	3301	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	913			SH3 1.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.2738C>A	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750132	0.89753	.	.	ENSG00000154556	ENST00000284776;ENST00000448662;ENST00000431808;ENST00000418609;ENST00000437304;ENST00000319471;ENST00000449407;ENST00000355634;ENST00000393528;ENST00000319454;ENST00000451974	D;D;D;D;D;D;D;D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69;-2.69	6.16	6.16	0.99307	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	D	0.97942	0.9323	H	0.99391	4.545	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.99;1.0;1.0;1.0;0.999	D	0.98505	1.0616	10	0.87932	D	0	-23.7641	20.8598	0.99761	0.0:0.0:1.0:0.0	.	479;474;817;305;362;504;1013;913;457;637;474;504;458;479	G3XAI0;C9JKV9;B7Z3X6;B7Z997;B3KPU4;O94875-4;B3KPQ7;O94875;E9PAS5;E9PAW4;B7Z1G5;O94875-5;O94875-3;O94875-2	.;.;.;.;.;.;.;SRBS2_HUMAN;.;.;.;.;.;.	Q	913;474;913;817;637;544;457;1013;479;504;262	ENSP00000284776:P913Q;ENSP00000409158:P474Q;ENSP00000411764:P913Q;ENSP00000397482:P817Q;ENSP00000396008:P637Q;ENSP00000322182:P544Q;ENSP00000397262:P457Q;ENSP00000347852:P1013Q;ENSP00000377162:P479Q;ENSP00000321983:P504Q;ENSP00000401818:P262Q	ENSP00000284776:P913Q	P	-	2	0	SORBS2	186773209	1.000000	0.71417	0.309000	0.25155	0.706000	0.40770	9.848000	0.99507	2.937000	0.99478	0.650000	0.86243	CCG		0.443	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		5	120	1	0	3.59834e-05	1	4.14379e-05	5	120				
TRAV13-2	28670	broad.mit.edu	37	14	22386370	22386370	+	RNA	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:22386370G>T	ENST00000390439.2	+	0	8									T cell receptor alpha variable 13-2																		ACCCGATGATGGAAGTAGCTC	0.403																																						ENST00000390439.2																			0																				164.0	139.0	147.0					14																	22386370		692	1591	2283			28670							g.chr14:22386370G>T	AE000659		14q11.2	2012-02-07			ENSG00000211791	ENSG00000211791		"""T cell receptors / TRA locus"""	12109	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168997		14.37:g.22386370G>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	8	+									RNA	SNP	ENST00000390439.2	37																																																																																						0.403	TRAV13-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401895.1	NG_001332		5	76	1	0	7.03913e-09	1	8.8467e-09	5	76				
FER	2241	broad.mit.edu	37	5	108168555	108168555	+	Missense_Mutation	SNP	C	C	A	rs377413281		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:108168555C>A	ENST00000281092.4	+	4	676	c.292C>A	c.(292-294)Cac>Aac	p.H98N	FER_ENST00000438717.2_Intron|FER_ENST00000502752.1_3'UTR|FER_ENST00000536402.1_Missense_Mutation_p.H98N|CTD-2197I11.1_ENST00000510935.1_RNA	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	98	Important for interaction with membranes containing phosphoinositides.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TGGACCTTTACACAGGCTCAC	0.393																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4																			0				NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32						c.(292-294)Cac>Aac		fer (fps/fes related) tyrosine kinase							150.0	135.0	140.0					5																	108168555		2202	4300	6502	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108168555C>A	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.292C>A	5.37:g.108168555C>A	ENSP00000281092:p.His98Asn		Somatic				FER_ENST00000536402.1_Missense_Mutation_p.H98N|FER_ENST00000502752.1_3'UTR|FER_ENST00000438717.2_Intron	p.H98N	NM_005246.2	NP_005237.2	WXS	Illumina GAIIx	Phase_I	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	4	676	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	98			Important for interaction with membranes containing phosphoinositides.		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.292C>A	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997558	0.54147	.	.	ENSG00000151422	ENST00000281092;ENST00000536402	T;T	0.39997	1.05;1.05	6.0	5.13	0.70059	.	0.042513	0.85682	N	0.000000	T	0.53174	0.1780	L	0.38531	1.155	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.70227	0.968;0.968	T	0.46261	-0.9204	10	0.22109	T	0.4	-12.9564	16.7501	0.85483	0.1302:0.8698:0.0:0.0	.	98;98	Q6PEJ9;P16591	.;FER_HUMAN	N	98	ENSP00000281092:H98N;ENSP00000442627:H98N	ENSP00000281092:H98N	H	+	1	0	FER	108196454	1.000000	0.71417	0.996000	0.52242	0.944000	0.59088	7.054000	0.76649	1.535000	0.49220	-0.169000	0.13324	CAC		0.393	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		9	483	1	0	1.76689e-08	1	2.19353e-08	9	483				
OCA2	4948	broad.mit.edu	37	15	28230277	28230277	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:28230277C>T	ENST00000354638.3	-	13	1452	c.1297G>A	c.(1297-1299)Gcg>Acg	p.A433T	OCA2_ENST00000353809.5_Missense_Mutation_p.A409T|OCA2_ENST00000382996.2_Missense_Mutation_p.A433T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	433					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGGACGGCCGCGATGAGACAG	0.597									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(1297-1299)Gcg>Acg		oculocutaneous albinism II							152.0	106.0	122.0					15																	28230277		2203	4300	6503	SO:0001583	missense	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28230277C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1297G>A	15.37:g.28230277C>T	ENSP00000346659:p.Ala433Thr		Somatic				OCA2_ENST00000382996.2_Missense_Mutation_p.A433T|OCA2_ENST00000353809.5_Missense_Mutation_p.A409T	p.A433T	NM_000275.2	NP_000266.2	WXS	Illumina GAIIx	Phase_I	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	13	1452	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	433					Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.1297G>A	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797073	0.31777	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.90900	-2.75;-2.75;-2.75	5.2	5.2	0.72013	Divalent ion symporter (1);	0.000000	0.85682	D	0.000000	T	0.80121	0.4565	N	0.00815	-1.16	0.53688	D	0.999974	P;P	0.46277	0.525;0.875	B;P	0.52217	0.072;0.693	T	0.80197	-0.1482	10	0.02654	T	1	-11.1821	18.0938	0.89482	0.0:1.0:0.0:0.0	.	409;433	Q04671-2;Q04671	.;P_HUMAN	T	433;409;433	ENSP00000346659:A433T;ENSP00000261276:A409T;ENSP00000372457:A433T	ENSP00000261276:A409T	A	-	1	0	OCA2	25903872	1.000000	0.71417	0.749000	0.31150	0.460000	0.32559	7.083000	0.76859	2.576000	0.86940	0.655000	0.94253	GCG		0.597	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		87	226	0	0	0	1	0	87	226				
EOGT	285203	broad.mit.edu	37	3	69026898	69026898	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:69026898C>T	ENST00000383701.3	-	18	2197	c.1455G>A	c.(1453-1455)ctG>ctA	p.L485L	EOGT_ENST00000540955.1_Silent_p.L209L|EOGT_ENST00000540764.1_Silent_p.L384L|EOGT_ENST00000295571.5_Silent_p.L401L	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	485					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)										GGTGCTCCCCCAGGGTTGGAT	0.448																																						ENST00000383701.3																			0											c.(1453-1455)ctG>ctA		EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase							62.0	62.0	62.0					3																	69026898		2203	4300	6503	SO:0001819	synonymous_variant	285203							g.chr3:69026898C>T	AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"""AER61 glycosyltransferase"""	614789	"""chromosome 3 open reading frame 64"""	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.1455G>A	3.37:g.69026898C>T			Somatic				EOGT_ENST00000540764.1_Silent_p.L384L|EOGT_ENST00000540955.1_Silent_p.L209L|EOGT_ENST00000295571.5_Silent_p.L401L	p.L485L	NM_001278689.1	NP_001265618.1	WXS	Illumina GAIIx	Phase_I					18	2197	-								A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Silent	SNP	ENST00000383701.3	37	c.1455G>A																																																																																					0.448	EOGT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343722.1	NM_173654		3	35	0	0	0	1	0	3	35				
ELF4	2000	broad.mit.edu	37	X	129201223	129201223	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:129201223G>T	ENST00000308167.5	-	9	1844	c.1465C>A	c.(1465-1467)Ctt>Att	p.L489I	ELF4_ENST00000335997.7_Missense_Mutation_p.L489I	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCAGCCAGAAGTTGGGGGAGG	0.657			T	ERG	AML																																	ENST00000308167.5				Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1465-1467)Ctt>Att		E74-like factor 4 (ets domain transcription factor)							25.0	28.0	27.0					X																	129201223		2196	4295	6491	SO:0001583	missense	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129201223G>T	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.1465C>A	X.37:g.129201223G>T	ENSP00000311280:p.Leu489Ile		Somatic				ELF4_ENST00000335997.7_Missense_Mutation_p.L489I	p.L489I	NM_001421.3	NP_001412.1	WXS	Illumina GAIIx	Phase_I	Q99607	ELF4_HUMAN			9	1844	-			489						Missense_Mutation	SNP	ENST00000308167.5	37	c.1465C>A	CCDS14617.1	.	.	.	.	.	.	.	.	.	.	g	14.64	2.595437	0.46318	.	.	ENSG00000102034	ENST00000335997;ENST00000308167	T;T	0.20463	2.07;2.07	3.71	1.82	0.25136	.	0.274194	0.19658	N	0.109046	T	0.11793	0.0287	L	0.27053	0.805	0.25797	N	0.98456	B	0.13145	0.007	B	0.12837	0.008	T	0.34304	-0.9834	10	0.13853	T	0.58	.	7.61	0.28124	0.0:0.0:0.5385:0.4615	.	489	Q99607	ELF4_HUMAN	I	489	ENSP00000338608:L489I;ENSP00000311280:L489I	ENSP00000311280:L489I	L	-	1	0	ELF4	129028904	0.997000	0.39634	0.971000	0.41717	0.985000	0.73830	1.264000	0.33015	0.337000	0.23665	0.509000	0.49947	CTT		0.657	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		3	16	1	0	0.004672	1	0.00507046	3	16				
BCL9	607	broad.mit.edu	37	1	147095648	147095648	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:147095648G>A	ENST00000234739.3	+	10	3909	c.3169G>A	c.(3169-3171)Ggc>Agc	p.G1057S		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1057	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)					TCTAGGAATGGGCATTAATAC	0.383			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.(3169-3171)Ggc>Agc		B-cell CLL/lymphoma 9							105.0	116.0	113.0					1																	147095648		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147095648G>A	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.3169G>A	1.37:g.147095648G>A	ENSP00000234739:p.Gly1057Ser		Somatic					p.G1057S	NM_004326.2	NP_004317.2	WXS	Illumina GAIIx	Phase_I	O00512	BCL9_HUMAN			10	3909	+	all_hematologic(923;0.115)		1057			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.3169G>A	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668712	0.47677	.	.	ENSG00000116128	ENST00000234739	T	0.61392	0.11	4.61	3.67	0.42095	.	0.120396	0.56097	D	0.000037	T	0.29556	0.0737	L	0.36672	1.1	0.38154	D	0.938829	P	0.37781	0.608	B	0.27500	0.08	T	0.36504	-0.9745	10	0.62326	D	0.03	-1.0582	14.9119	0.70764	0.0:0.1441:0.8559:0.0	.	1057	O00512	BCL9_HUMAN	S	1057	ENSP00000234739:G1057S	ENSP00000234739:G1057S	G	+	1	0	BCL9	145562272	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.717000	0.91425	1.260000	0.44134	0.655000	0.94253	GGC		0.383	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		4	398	0	0	0	1	0	4	398				
KCNG4	93107	broad.mit.edu	37	16	84270906	84270906	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:84270906C>T	ENST00000308251.4	-	2	254	c.186G>A	c.(184-186)ctG>ctA	p.L62L	KCNG4_ENST00000568181.1_Silent_p.L62L	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	62					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CCACGTTGATCAGGATCTCCT	0.642																																						ENST00000568181.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						c.(184-186)ctG>ctA		potassium voltage-gated channel, subfamily G, member 4							43.0	43.0	43.0					16																	84270906		2200	4300	6500	SO:0001819	synonymous_variant	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84270906C>T	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.186G>A	16.37:g.84270906C>T			Somatic				KCNG4_ENST00000308251.4_Silent_p.L62L	p.L62L			WXS	Illumina GAIIx	Phase_I	Q8TDN1	KCNG4_HUMAN			2	306	-			62					Q96H24	Silent	SNP	ENST00000308251.4	37	c.186G>A	CCDS10945.1																																																																																				0.642	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		40	206	0	0	0	1	0	40	206				
TCOF1	6949	broad.mit.edu	37	5	149755343	149755343	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:149755343C>T	ENST00000504761.2	+	12	1764	c.1764C>T	c.(1762-1764)ccC>ccT	p.P588P	TCOF1_ENST00000451292.1_Silent_p.P588P|TCOF1_ENST00000439160.2_Silent_p.P588P|TCOF1_ENST00000377797.3_Silent_p.P588P|TCOF1_ENST00000445265.2_Silent_p.P511P|TCOF1_ENST00000513346.1_Silent_p.P588P|TCOF1_ENST00000323668.7_Silent_p.P511P|TCOF1_ENST00000394269.3_Silent_p.P588P			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	588					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAAGGGGCCCCCTCAGAAGG	0.612																																						ENST00000451292.1																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35						c.(1762-1764)ccC>ccT		Treacher Collins-Franceschetti syndrome 1							84.0	96.0	92.0					5																	149755343		2203	4300	6503	SO:0001819	synonymous_variant	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149755343C>T		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.1764C>T	5.37:g.149755343C>T			Somatic				TCOF1_ENST00000445265.2_Silent_p.P511P|TCOF1_ENST00000377797.3_Silent_p.P588P|TCOF1_ENST00000439160.2_Silent_p.P588P|TCOF1_ENST00000513346.1_Silent_p.P588P|TCOF1_ENST00000323668.7_Silent_p.P511P|TCOF1_ENST00000504761.2_Silent_p.P588P|TCOF1_ENST00000394269.3_Silent_p.P588P	p.P588P			WXS	Illumina GAIIx	Phase_I	Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		12	1872	+		all_hematologic(541;0.224)	588					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Silent	SNP	ENST00000504761.2	37	c.1764C>T	CCDS54936.1																																																																																				0.612	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		9	71	0	0	0	1	0	9	71				
DGKA	1606	broad.mit.edu	37	12	56347133	56347133	+	Splice_Site	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:56347133G>T	ENST00000331886.5	+	23	2517		c.e23-1		DGKA_ENST00000551156.1_Splice_Site|DGKA_ENST00000549079.2_Splice_Site|DGKA_ENST00000394147.1_Splice_Site	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa						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)	GCCTCCTATAGCACCACAAAA	0.458																																						ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.e23-1		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						273.0	268.0	270.0					12																	56347133		2203	4300	6503	SO:0001630	splice_region_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.chr12:56347133G>T	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.2064-1G>T	12.37:g.56347133G>T			Somatic				DGKA_ENST00000394147.1_Splice_Site|DGKA_ENST00000551156.1_Splice_Site|DGKA_ENST00000549079.2_Splice_Site		NM_001345.4	NP_001336.2	WXS	Illumina GAIIx	Phase_I	P23743	DGKA_HUMAN			23	2517	+								O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Splice_Site	SNP	ENST00000331886.5	37		CCDS8896.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.531893	0.64972	.	.	ENSG00000065357	ENST00000331886;ENST00000394147;ENST00000551156	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4006	0.87459	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DGKA	54633400	1.000000	0.71417	0.994000	0.49952	0.733000	0.41908	9.290000	0.96065	2.463000	0.83235	0.561000	0.74099	.		0.458	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1		Intron	6	838	1	0	0.000602214	1	0.000670738	6	838				
LMO1	4004	broad.mit.edu	37	11	8248620	8248620	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:8248620A>G	ENST00000335790.3	-	3	762	c.267T>C	c.(265-267)gcT>gcC	p.A89A	LMO1_ENST00000534484.1_Silent_p.A78A|LMO1_ENST00000428101.2_Silent_p.A88A	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN	LIM domain only 1 (rhombotin 1)	89	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		TGCTGCAAGCAGCACAGTTCC	0.617			"""T, A"""	TRD@	"""T-ALL, neuroblastoma"""	neuroblastoma																																ENST00000335790.3			yes	Dom	yes		11	11p15	4004	"""T, A"""	LIM domain only 1 (rhombotin 1) (RBTN1)			L	TRD@	neuroblastoma	"""T-ALL, neuroblastoma"""		0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5						c.(265-267)gcT>gcC		LIM domain only 1 (rhombotin 1)							61.0	68.0	66.0					11																	8248620		2102	4233	6335	SO:0001819	synonymous_variant	4004				cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:8248620A>G	M26682	CCDS44534.1, CCDS58118.1	11p15	2014-09-17			ENSG00000166407	ENSG00000166407			6641	protein-coding gene	gene with protein product		186921		RBTN1		2034676, 1703797	Standard	NM_002315		Approved	TTG1, RHOM1	uc001mgh.2	P25800	OTTHUMG00000165833	ENST00000335790.3:c.267T>C	11.37:g.8248620A>G			Somatic				LMO1_ENST00000534484.1_Silent_p.A78A|LMO1_ENST00000428101.2_Silent_p.A88A	p.A89A	NM_002315.2	NP_002306.1	WXS	Illumina GAIIx	Phase_I	P25800	RBTN1_HUMAN		Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)	3	762	-			89			LIM zinc-binding 2.		E9PSF5|Q4VBC5|Q8IXR0	Silent	SNP	ENST00000335790.3	37	c.267T>C	CCDS44534.1																																																																																				0.617	LMO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386503.2	NM_002315		10	1178	0	0	0	1	0	10	1178				
BAG6	7917	broad.mit.edu	37	6	31612763	31612763	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:31612763C>T	ENST00000375964.6	-	10	1660	c.1347G>A	c.(1345-1347)caG>caA	p.Q449Q	BAG6_ENST00000404765.2_Silent_p.Q443Q|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000362049.6_Silent_p.Q443Q|BAG6_ENST00000439687.2_Silent_p.Q443Q|BAG6_ENST00000375976.4_Silent_p.Q443Q|BAG6_ENST00000211379.5_Silent_p.Q443Q	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	449	4 X 29 AA approximate repeats.|Pro-rich.				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)	p.Q443Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						GTTCCACACTCTGGTGGGAAA	0.587																																						ENST00000404765.2																			1	Substitution - coding silent(1)	p.Q443Q(1)	lung(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(1327-1329)caG>caA		BCL2-associated athanogene 6							164.0	188.0	179.0					6																	31612763		1509	2709	4218	SO:0001819	synonymous_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.chr6:31612763C>T	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.1347G>A	6.37:g.31612763C>T			Somatic				BAG6_ENST00000211379.5_Silent_p.Q443Q|BAG6_ENST00000375976.4_Silent_p.Q443Q|BAG6_ENST00000362049.6_Silent_p.Q443Q|BAG6_ENST00000439687.2_Silent_p.Q443Q|BAG6_ENST00000375964.6_Silent_p.Q449Q	p.Q443Q			WXS	Illumina GAIIx	Phase_I	P46379	BAG6_HUMAN			10	1618	-			449			4 X 29 AA approximate repeats.|Pro-rich.		A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Silent	SNP	ENST00000375964.6	37	c.1329G>A	CCDS47403.1	.	.	.	.	.	.	.	.	.	.	c	9.316	1.056833	0.19907	.	.	ENSG00000204463	ENST00000453833	.	.	.	5.19	4.32	0.51571	.	.	.	.	.	T	0.57403	0.2051	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58584	-0.7611	4	.	.	.	.	12.8744	0.57982	0.0:0.9193:0.0:0.0807	.	.	.	.	K	104	.	.	E	-	1	0	BAG6	31720742	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.444000	0.73452	1.178000	0.42870	-0.161000	0.13427	GAG		0.587	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		5	322	0	0	0	1	0	5	322				
OR52K2	119774	broad.mit.edu	37	11	4471128	4471128	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:4471128G>A	ENST00000325719.4	+	1	604	c.559G>A	c.(559-561)Gtg>Atg	p.V187M		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATGGCTGTGGTGAGGCTGGC	0.522																																						ENST00000325719.4																			0				NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25						c.(559-561)Gtg>Atg		olfactory receptor, family 52, subfamily K, member 2							289.0	222.0	244.0					11																	4471128		2201	4298	6499	SO:0001583	missense	119774				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4471128G>A	AB065791	CCDS31351.1	11p15.4	2012-08-09			ENSG00000181963	ENSG00000181963		"""GPCR / Class A : Olfactory receptors"""	15223	protein-coding gene	gene with protein product							Standard	NM_001005172		Approved		uc001lyz.2	Q8NGK3	OTTHUMG00000165703	ENST00000325719.4:c.559G>A	11.37:g.4471128G>A	ENSP00000318956:p.Val187Met		Somatic					p.V187M	NM_001005172.2	NP_001005172.2	WXS	Illumina GAIIx	Phase_I	Q8NGK3	O52K2_HUMAN		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	604	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	187					A8MUY8|B2RP35|Q6IFK4	Missense_Mutation	SNP	ENST00000325719.4	37	c.559G>A	CCDS31351.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371677	0.42003	.	.	ENSG00000181963	ENST00000325719	T	0.00158	8.65	4.0	4.0	0.46444	GPCR, rhodopsin-like superfamily (1);	0.179749	0.26467	N	0.024201	T	0.00271	0.0008	L	0.38531	1.155	0.25736	N	0.98521	D	0.89917	1.0	D	0.91635	0.999	T	0.57271	-0.7840	10	0.87932	D	0	.	8.8232	0.35039	0.1068:0.0:0.8932:0.0	.	187	Q8NGK3	O52K2_HUMAN	M	187	ENSP00000318956:V187M	ENSP00000318956:V187M	V	+	1	0	OR52K2	4427704	0.002000	0.14202	0.998000	0.56505	0.913000	0.54294	-0.126000	0.10563	2.054000	0.61138	0.485000	0.47835	GTG		0.522	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385844.1	NM_001005172		5	400	0	0	0	1	0	5	400				
DYNC1H1	1778	broad.mit.edu	37	14	102496167	102496167	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:102496167G>A	ENST00000360184.4	+	50	9818	c.9654G>A	c.(9652-9654)ctG>ctA	p.L3218L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3218	Stalk. {ECO:0000250}.				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						TAGAAGAACTGCGTCGTGACT	0.483																																						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.(9652-9654)ctG>ctA		dynein, cytoplasmic 1, heavy chain 1							120.0	130.0	126.0					14																	102496167		2203	4300	6503	SO:0001819	synonymous_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.chr14:102496167G>A	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.9654G>A	14.37:g.102496167G>A			Somatic					p.L3218L	NM_001376.4	NP_001367.2	WXS	Illumina GAIIx	Phase_I	Q14204	DYHC1_HUMAN			50	9818	+			3218			Stalk (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.9654G>A	CCDS9966.1																																																																																				0.483	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		10	989	0	0	0	1	0	10	989				
SDHA	6389	broad.mit.edu	37	5	228396	228396	+	Missense_Mutation	SNP	G	G	C	rs1041946		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:228396G>C	ENST00000264932.6	+	6	833	c.718G>C	c.(718-720)Gag>Cag	p.E240Q	SDHA_ENST00000510361.1_Missense_Mutation_p.E192Q|SDHA_ENST00000504309.1_Missense_Mutation_p.E240Q	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	240			E -> Q (in dbSNP:rs1041946).		cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)	p.E240Q(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ACTGTGCATAGAGGACGGGTC	0.418									Familial Paragangliomas																													ENST00000264932.6																			2	Substitution - Missense(2)	p.E240Q(2)	lung(1)|prostate(1)	NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(718-720)Gag>Cag		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						100.0	92.0	95.0					5																	228396		2203	4300	6503	SO:0001583	missense	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:228396G>C	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.718G>C	5.37:g.228396G>C	ENSP00000264932:p.Glu240Gln		Somatic				SDHA_ENST00000504309.1_Missense_Mutation_p.E240Q|SDHA_ENST00000510361.1_Missense_Mutation_p.E192Q	p.E240Q	NM_004168.2	NP_004159.2	WXS	Illumina GAIIx	Phase_I	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		6	833	+			240		E -> Q (in dbSNP:rs1041946).			A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.718G>C	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	c	18.02	3.531241	0.64972	.	.	ENSG00000073578	ENST00000264932;ENST00000504309;ENST00000510361	T;T;T	0.70399	-0.48;-0.48;-0.48	5.23	5.23	0.72850	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.063690	0.64402	U	0.000008	T	0.81973	0.4936	M	0.67397	2.05	0.80722	D	1	P;P;D;P;P	0.69078	0.494;0.614;0.997;0.605;0.605	P;P;D;B;B	0.65874	0.457;0.493;0.939;0.2;0.315	D	0.83437	0.0041	10	0.66056	D	0.02	.	16.7213	0.85410	0.0:0.0:1.0:0.0	rs1041946;rs3181411;rs17410941	192;240;240;240;246	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	Q	240;240;192	ENSP00000264932:E240Q;ENSP00000426514:E240Q;ENSP00000427703:E192Q	ENSP00000264932:E240Q	E	+	1	0	SDHA	281396	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	7.579000	0.82511	2.633000	0.89246	0.644000	0.83932	GAG		0.418	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		4	98	0	0	0	1	0	4	98				
FOLR2	2350	broad.mit.edu	37	11	71929729	71929729	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:71929729C>T	ENST00000298223.6	+	2	288	c.101C>T	c.(100-102)gCc>gTc	p.A34V	FOLR2_ENST00000454954.2_Intron|FOLR2_ENST00000449475.2_Missense_Mutation_p.A51V	NM_000803.4|NM_001113534.1|NM_001113535.1|NM_001113536.1	NP_000794.3|NP_001107006.1|NP_001107007.1|NP_001107008.1	P14207	FOLR2_HUMAN	folate receptor 2 (fetal)	34					folic acid transport (GO:0015884)	anchored component of external side of plasma membrane (GO:0031362)|extracellular region (GO:0005576)|membrane (GO:0016020)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)			breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	TGTATGGATGCCAAGCACCAC	0.542																																						ENST00000449475.2																			0				breast(3)|large_intestine(3)|ovary(1)|skin(1)	8						c.(151-153)gCc>gTc		folate receptor 2 (fetal)	Folic Acid(DB00158)						123.0	79.0	94.0					11																	71929729		2200	4293	6493	SO:0001583	missense	2350				folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity	g.chr11:71929729C>T	AK222539	CCDS8212.1	11q13.3-q14.1	2010-04-08			ENSG00000165457	ENSG00000165457			3793	protein-coding gene	gene with protein product		136425				1133088, 7698003	Standard	NM_000803		Approved		uc009ytf.3	P14207	OTTHUMG00000150394	ENST00000298223.6:c.101C>T	11.37:g.71929729C>T	ENSP00000298223:p.Ala34Val		Somatic				FOLR2_ENST00000298223.6_Missense_Mutation_p.A34V|FOLR2_ENST00000454954.2_Intron	p.A51V			WXS	Illumina GAIIx	Phase_I	P14207	FOLR2_HUMAN			2	450	+			34					Q05CA5|Q6GTE8	Missense_Mutation	SNP	ENST00000298223.6	37	c.152C>T	CCDS8212.1	.	.	.	.	.	.	.	.	.	.	c	20.5	4.000077	0.74818	.	.	ENSG00000165457	ENST00000449475;ENST00000298223;ENST00000413873;ENST00000541003;ENST00000539412;ENST00000536778;ENST00000535625;ENST00000321324;ENST00000538353	T;T;T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	4.38	1.29	0.21616	Folate receptor-like (1);	0.154993	0.41396	U	0.000881	D	0.85860	0.5795	M	0.89478	3.035	0.80722	D	1	D	0.67145	0.996	D	0.68621	0.959	D	0.83367	0.0005	10	0.72032	D	0.01	.	5.21	0.15312	0.0:0.6392:0.1688:0.192	.	34	P14207	FOLR2_HUMAN	V	51;34;51;80;45;49;34;47;34	ENSP00000405638:A51V;ENSP00000298223:A34V;ENSP00000443307:A80V;ENSP00000441547:A45V;ENSP00000438568:A49V;ENSP00000444794:A34V;ENSP00000321957:A47V;ENSP00000440337:A34V	ENSP00000298223:A34V	A	+	2	0	FOLR2	71607377	0.998000	0.40836	0.935000	0.37517	0.997000	0.91878	0.716000	0.25836	0.475000	0.27415	0.655000	0.94253	GCC		0.542	FOLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317923.2	NM_000803		4	203	0	0	0	1	0	4	203				
ZNF75D	7626	broad.mit.edu	37	X	134427961	134427961	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:134427961A>T	ENST00000370766.3	-	3	2815	c.106T>A	c.(106-108)Tac>Aac	p.Y36N	ZNF75D_ENST00000370764.1_Missense_Mutation_p.Y36N|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	36					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TTTGTGCTGTATTTCTTACTC	0.507																																						ENST00000370766.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(106-108)Tac>Aac		zinc finger protein 75D							112.0	108.0	109.0					X																	134427961		2203	4300	6503	SO:0001583	missense	7626				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134427961A>T	S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.106T>A	X.37:g.134427961A>T	ENSP00000359802:p.Tyr36Asn		Somatic				ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.Y36N	p.Y36N	NM_007131.3	NP_009062.2	WXS	Illumina GAIIx	Phase_I	P51815	ZN75D_HUMAN			3	2815	-			36					A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	ENST00000370766.3	37	c.106T>A	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	A	8.097	0.775906	0.16051	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.05855	3.38;3.38	3.17	-2.57	0.06248	.	.	.	.	.	T	0.03011	0.0089	N	0.19112	0.55	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.04013	0.001;0.001	T	0.47535	-0.9110	9	0.15066	T	0.55	.	2.3189	0.04206	0.3615:0.0:0.2465:0.3919	.	36;36	P51815;A6NK62	ZN75D_HUMAN;.	N	36	ENSP00000359802:Y36N;ENSP00000359800:Y36N	ENSP00000359800:Y36N	Y	-	1	0	ZNF75D	134255627	0.383000	0.25156	0.000000	0.03702	0.047000	0.14425	0.749000	0.26320	-0.692000	0.05128	-0.502000	0.04539	TAC		0.507	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131		8	783	0	0	0	1	0	8	783				
USP31	57478	broad.mit.edu	37	16	23080103	23080103	+	Missense_Mutation	SNP	G	G	A	rs148627286		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:23080103G>A	ENST00000219689.7	-	16	3322	c.3323C>T	c.(3322-3324)tCa>tTa	p.S1108L	USP31_ENST00000567975.1_Missense_Mutation_p.S401L	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CGAAGGAGATGACACGGAGTC	0.582																																						ENST00000219689.7																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57						c.(3322-3324)tCa>tTa		ubiquitin specific peptidase 31		G	LEU/SER	0,4394		0,0,2197	95.0	102.0	100.0		3323	6.1	0.0	16	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense	USP31	NM_020718.3	145	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	1108/1353	23080103	1,12993	2197	4300	6497	SO:0001583	missense	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23080103G>A	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.3323C>T	16.37:g.23080103G>A	ENSP00000219689:p.Ser1108Leu		Somatic				USP31_ENST00000567975.1_Missense_Mutation_p.S401L	p.S1108L	NM_020718.3	NP_065769.3	WXS	Illumina GAIIx	Phase_I	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	16	3322	-			1108			Ser-rich.		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000219689.7	37	c.3323C>T	CCDS10607.1	.	.	.	.	.	.	.	.	.	.	G	3.013	-0.203383	0.06180	0.0	1.16E-4	ENSG00000103404	ENST00000219689	T	0.07216	3.21	6.06	6.06	0.98353	.	1.583080	0.04041	N	0.303157	T	0.08223	0.0205	N	0.24115	0.695	0.09310	N	1	B;B	0.24823	0.003;0.112	B;B	0.17722	0.002;0.019	T	0.18053	-1.0349	10	0.35671	T	0.21	-3.8281	8.9219	0.35617	0.1557:0.0:0.8443:0.0	.	1108;401	Q70CQ4;B3KS48	UBP31_HUMAN;.	L	1108	ENSP00000219689:S1108L	ENSP00000219689:S1108L	S	-	2	0	USP31	22987604	0.006000	0.16342	0.019000	0.16419	0.442000	0.32017	1.823000	0.39062	2.879000	0.98667	0.650000	0.86243	TCA		0.582	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		7	363	0	0	0	1	0	7	363				
SUSD5	26032	broad.mit.edu	37	3	33195040	33195040	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:33195040C>A	ENST00000309558.3	-	5	1501	c.1084G>T	c.(1084-1086)Gtg>Ttg	p.V362L		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	362					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTGCTCACCACTGGATCTCCT	0.552																																						ENST00000309558.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1084-1086)Gtg>Ttg		sushi domain containing 5							106.0	110.0	108.0					3																	33195040		2124	4248	6372	SO:0001583	missense	26032				cell adhesion	integral to membrane	hyaluronic acid binding	g.chr3:33195040C>A	AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.1084G>T	3.37:g.33195040C>A	ENSP00000308727:p.Val362Leu		Somatic					p.V362L	NM_015551.1	NP_056366.1	WXS	Illumina GAIIx	Phase_I	O60279	SUSD5_HUMAN			5	1501	-			362						Missense_Mutation	SNP	ENST00000309558.3	37	c.1084G>T	CCDS46787.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.768011	0.00645	.	.	ENSG00000173705	ENST00000309558	T	0.06528	3.29	5.31	1.94	0.25998	.	1.135350	0.06349	N	0.709584	T	0.04679	0.0127	N	0.22421	0.69	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.46569	-0.9182	10	0.09590	T	0.72	-5.6378	7.6367	0.28270	0.0:0.445:0.0:0.555	.	362	O60279	SUSD5_HUMAN	L	362	ENSP00000308727:V362L	ENSP00000308727:V362L	V	-	1	0	SUSD5	33170044	0.000000	0.05858	0.006000	0.13384	0.117000	0.20001	0.038000	0.13862	0.203000	0.20529	0.650000	0.86243	GTG		0.552	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054		12	384	1	0	9.31168e-06	1	1.10739e-05	12	384				
AKAP9	10142	broad.mit.edu	37	7	91735015	91735015	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:91735015G>A	ENST00000359028.2	+	47	11591	c.11366G>A	c.(11365-11367)tGg>tAg	p.W3789*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.W3735*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.W3785*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3789					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)			GTTCGACGGTGGCATCGAGTC	0.333			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.(11365-11367)tGg>tAg		A kinase (PRKA) anchor protein 9							138.0	134.0	136.0					7																	91735015		2203	4300	6503	SO:0001587	stop_gained	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91735015G>A	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.11366G>A	7.37:g.91735015G>A	ENSP00000351922:p.Trp3789*		Somatic				AKAP9_ENST00000358100.2_Nonsense_Mutation_p.W3735*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.W3785*	p.W3789*			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)		47	11591	+	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)		3789					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Nonsense_Mutation	SNP	ENST00000359028.2	37	c.11366G>A		.	.	.	.	.	.	.	.	.	.	G	54	22.582960	0.99949	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	.	.	.	5.55	5.55	0.83447	.	0.000000	0.35124	N	0.003438	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7069	0.96076	0.0:0.0:1.0:0.0	.	.	.	.	X	3785;3789;3735;3789;1631	.	ENSP00000348573:W3785X	W	+	2	0	AKAP9	91572951	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.343000	0.79319	2.894000	0.99253	0.591000	0.81541	TGG		0.333	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		64	86	0	0	0	1	0	64	86				
TRPM3	80036	broad.mit.edu	37	9	73150893	73150893	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:73150893T>C	ENST00000377110.3	-	25	5343	c.5100A>G	c.(5098-5100)caA>caG	p.Q1700Q	TRPM3_ENST00000357533.2_Silent_p.Q1704Q|TRPM3_ENST00000396285.1_Silent_p.Q1559Q|TRPM3_ENST00000358082.3_Silent_p.Q1562Q|TRPM3_ENST00000423814.3_Silent_p.Q1727Q|TRPM3_ENST00000396280.5_Silent_p.Q1549Q|TRPM3_ENST00000396292.4_Silent_p.Q1572Q|TRPM3_ENST00000377106.1_Silent_p.Q1572Q|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000360823.2_Silent_p.Q1562Q|TRPM3_ENST00000408909.2_Silent_p.Q1559Q|TRPM3_ENST00000377105.1_Silent_p.Q1559Q			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1725					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TTTCAAAGCTTTGGAAAGCCG	0.507																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(5098-5100)caA>caG		transient receptor potential cation channel, subfamily M, member 3							126.0	125.0	125.0					9																	73150893		2203	4300	6503	SO:0001819	synonymous_variant	80036					integral to membrane	calcium channel activity	g.chr9:73150893T>C	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.5100A>G	9.37:g.73150893T>C			Somatic				TRPM3_ENST00000396292.4_Silent_p.Q1572Q|TRPM3_ENST00000357533.2_Silent_p.Q1704Q|TRPM3_ENST00000360823.2_Silent_p.Q1562Q|TRPM3_ENST00000358082.3_Silent_p.Q1562Q|TRPM3_ENST00000396280.5_Silent_p.Q1549Q|TRPM3_ENST00000377105.1_Silent_p.Q1559Q|TRPM3_ENST00000377106.1_Silent_p.Q1572Q|TRPM3_ENST00000408909.2_Silent_p.Q1559Q|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000423814.3_Silent_p.Q1727Q|TRPM3_ENST00000396285.1_Silent_p.Q1559Q	p.Q1700Q	NM_001007471.2	NP_001007472.2	WXS	Illumina GAIIx	Phase_I	Q9HCF6	TRPM3_HUMAN			25	5343	-			1725					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377110.3	37	c.5100A>G	CCDS43835.1	.	.	.	.	.	.	.	.	.	.	T	0.022	-1.411637	0.01145	.	.	ENSG00000083067	ENST00000396280	.	.	.	5.72	1.37	0.22104	.	.	.	.	.	T	0.50905	0.1643	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36890	-0.9729	4	.	.	.	-3.8979	4.4559	0.11643	0.2233:0.0:0.3348:0.4419	.	.	.	.	E	1549	.	.	K	-	1	0	TRPM3	72340713	0.998000	0.40836	0.983000	0.44433	0.370000	0.29829	0.564000	0.23563	0.269000	0.21961	0.533000	0.62120	AAG		0.507	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	NM_206945		3	128	0	0	0	1	0	3	128				
SLC24A3	57419	broad.mit.edu	37	20	19665832	19665832	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:19665832G>A	ENST00000328041.6	+	12	1348	c.1151G>A	c.(1150-1152)gGg>gAg	p.G384E		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	384					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTGGAGAATGGGACAGGGCCC	0.522																																						ENST00000328041.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1150-1152)gGg>gAg		solute carrier family 24 (sodium/potassium/calcium exchanger), member 3							97.0	94.0	95.0					20																	19665832		2203	4300	6503	SO:0001583	missense	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19665832G>A	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1151G>A	20.37:g.19665832G>A	ENSP00000333519:p.Gly384Glu		Somatic					p.G384E	NM_020689.3	NP_065740.2	WXS	Illumina GAIIx	Phase_I	Q9HC58	NCKX3_HUMAN			12	1348	+			384					B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	37	c.1151G>A	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371877	0.82573	.	.	ENSG00000185052	ENST00000328041	T	0.62105	0.05	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000009	T	0.75598	0.3871	L	0.58969	1.84	0.80722	D	1	D	0.64830	0.994	D	0.63033	0.91	T	0.72656	-0.4227	9	.	.	.	.	19.7033	0.96063	0.0:0.0:1.0:0.0	.	384	Q9HC58	NCKX3_HUMAN	E	384	ENSP00000333519:G384E	.	G	+	2	0	SLC24A3	19613832	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.840000	0.99478	2.745000	0.94114	0.563000	0.77884	GGG		0.522	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689		4	161	0	0	0	1	0	4	161				
MSLNL	401827	broad.mit.edu	37	16	830490	830490	+	Intron	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:830490G>A	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Missense_Mutation_p.R171C			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R171S(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGATGCGTGCGGGCACGCATG	0.547																																						ENST00000293892.3																			1	Substitution - Missense(1)	p.R171S(1)	lung(1)	breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(511-513)Cgc>Tgc		mesothelin-like							263.0	230.0	241.0					16																	830490		2177	4262	6439	SO:0001627	intron_variant	401827				cell adhesion	integral to membrane		g.chr16:830490G>A			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-328C>T	16.37:g.830490G>A			Somatic				MSLNL_ENST00000442466.1_Intron	p.R171C			WXS	Illumina GAIIx	Phase_I	Q96KJ4	MSLNL_HUMAN			3	510	-			0						Missense_Mutation	SNP	ENST00000442466.1	37	c.511C>T		.	.	.	.	.	.	.	.	.	.	A	1.635	-0.518078	0.04171	.	.	ENSG00000162006	ENST00000293892	T	0.19394	2.15	1.02	-2.05	0.07321	.	.	.	.	.	T	0.12944	0.0314	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22277	-1.0221	5	.	.	.	.	4.7727	0.13164	0.2679:0.208:0.5241:0.0	.	.	.	.	C	171	ENSP00000293892:R171C	.	R	-	1	0	MSLNL	770491	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.299000	0.02754	-2.502000	0.00509	-1.668000	0.00747	CGC		0.547	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		19	5273	0	0	0	1	0	19	5273				
PTRHD1	391356	broad.mit.edu	37	2	25013321	25013321	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:25013321C>A	ENST00000328379.5	-	2	386	c.382G>T	c.(382-384)Gaa>Taa	p.E128*	CENPO_ENST00000473706.1_5'Flank|CENPO_ENST00000380834.2_5'Flank|PTRHD1_ENST00000487316.1_5'UTR	NM_001013663.1	NP_001013685.1	Q6GMV3	PTRD1_HUMAN	peptidyl-tRNA hydrolase domain containing 1	128						extracellular vesicular exosome (GO:0070062)	aminoacyl-tRNA hydrolase activity (GO:0004045)			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1)	6						TGGCCCACTTCTTCCTTGGGG	0.493																																						ENST00000328379.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1)	6						c.(382-384)Gaa>Taa		peptidyl-tRNA hydrolase domain containing 1							135.0	122.0	126.0					2																	25013321		2203	4300	6503	SO:0001587	stop_gained	391356				translation		aminoacyl-tRNA hydrolase activity|protein tyrosine phosphatase activity	g.chr2:25013321C>A		CCDS33156.1	2p23.3	2011-05-09	2011-05-09	2011-05-09	ENSG00000184924	ENSG00000184924			33782	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 79"""	C2orf79		12477932	Standard	NM_001013663		Approved	LOC391356	uc002rfm.3	Q6GMV3	OTTHUMG00000151978	ENST00000328379.5:c.382G>T	2.37:g.25013321C>A	ENSP00000330389:p.Glu128*		Somatic				PTRHD1_ENST00000487316.1_5'UTR	p.E128*	NM_001013663.1	NP_001013685.1	WXS	Illumina GAIIx	Phase_I	Q6GMV3	PTRD1_HUMAN			2	386	-			128						Nonsense_Mutation	SNP	ENST00000328379.5	37	c.382G>T	CCDS33156.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741106	0.69304	.	.	ENSG00000184924	ENST00000328379	.	.	.	5.08	5.08	0.68730	.	0.310445	0.34676	N	0.003773	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-5.6649	11.7965	0.52102	0.0:0.9159:0.0:0.0841	.	.	.	.	X	128	.	ENSP00000330389:E128X	E	-	1	0	PTRHD1	24866825	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.600000	0.36762	2.793000	0.96121	0.655000	0.94253	GAA		0.493	PTRHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324626.3	NM_001013663		14	147	1	0	1.5739e-10	1	2.04888e-10	14	147				
ATP6V0D1	9114	broad.mit.edu	37	16	67472930	67472930	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:67472930G>A	ENST00000290949.3	-	6	910	c.760C>T	c.(760-762)Cag>Tag	p.Q254*	ATP6V0D1_ENST00000602876.1_Nonsense_Mutation_p.Q177*|ATP6V0D1_ENST00000567694.1_5'UTR|ATP6V0D1_ENST00000540149.1_Nonsense_Mutation_p.Q295*	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	254					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CGAGCCAGCTGCGCCAGGCCC	0.587																																						ENST00000290949.3																			0				large_intestine(3)|lung(3)|urinary_tract(2)	8						c.(760-762)Cag>Tag		ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1							101.0	113.0	109.0					16																	67472930		2198	4300	6498	SO:0001587	stop_gained	9114				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex		g.chr16:67472930G>A	X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"""ATPases / V-type"""	13724	protein-coding gene	gene with protein product		607028	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"""	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.760C>T	16.37:g.67472930G>A	ENSP00000290949:p.Gln254*		Somatic				ATP6V0D1_ENST00000567694.1_5'UTR|ATP6V0D1_ENST00000540149.1_Nonsense_Mutation_p.Q295*|ATP6V0D1_ENST00000602876.1_Nonsense_Mutation_p.Q177*	p.Q254*	NM_004691.4	NP_004682.2	WXS	Illumina GAIIx	Phase_I	P61421	VA0D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)	6	910	-		Ovarian(137;0.0563)	254					P12953|Q02547	Nonsense_Mutation	SNP	ENST00000290949.3	37	c.760C>T	CCDS10838.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.209314	0.39003	.	.	ENSG00000159720	ENST00000290949;ENST00000426604;ENST00000540149	.	.	.	4.89	4.89	0.63831	.	0.058298	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-19.8434	16.8626	0.86021	0.0:0.0:1.0:0.0	.	.	.	.	X	254;177;295	.	ENSP00000290949:Q254X	Q	-	1	0	ATP6V0D1	66030431	1.000000	0.71417	0.993000	0.49108	0.054000	0.15201	7.856000	0.86956	2.555000	0.86185	0.650000	0.86243	CAG		0.587	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268835.1	NM_004691		6	309	0	0	0	1	0	6	309				
FOXN1	8456	broad.mit.edu	37	17	26856137	26856137	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:26856137C>G	ENST00000226247.2	+	4	754	c.725C>G	c.(724-726)cCc>cGc	p.P242R	FOXN1_ENST00000579795.1_Missense_Mutation_p.P242R	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	242					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GGCAGCTACCCCATACCCTAC	0.582																																						ENST00000226247.2																			0				endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(724-726)cCc>cGc		forkhead box N1							124.0	107.0	113.0					17																	26856137		2203	4300	6503	SO:0001583	missense	8456				defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:26856137C>G	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.725C>G	17.37:g.26856137C>G	ENSP00000226247:p.Pro242Arg		Somatic				FOXN1_ENST00000579795.1_Missense_Mutation_p.P242R	p.P242R	NM_003593.2	NP_003584.2	WXS	Illumina GAIIx	Phase_I	O15353	FOXN1_HUMAN			4	754	+	Lung NSC(42;0.00431)		242					B2R9Q7|O15352	Missense_Mutation	SNP	ENST00000226247.2	37	c.725C>G	CCDS11232.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.677140	0.47886	.	.	ENSG00000109101	ENST00000226247	D	0.93906	-3.31	5.94	5.94	0.96194	.	0.068271	0.64402	D	0.000008	D	0.90283	0.6961	L	0.32530	0.975	0.45172	D	0.998183	B	0.15719	0.014	B	0.15870	0.014	D	0.84357	0.0536	10	0.33141	T	0.24	.	20.3633	0.98874	0.0:1.0:0.0:0.0	.	242	O15353	FOXN1_HUMAN	R	242	ENSP00000226247:P242R	ENSP00000226247:P242R	P	+	2	0	FOXN1	23880264	0.843000	0.29541	0.998000	0.56505	0.808000	0.45660	3.062000	0.49971	2.826000	0.97356	0.561000	0.74099	CCC		0.582	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1			7	290	0	0	0	1	0	7	290				
GOLGA3	2802	broad.mit.edu	37	12	133372453	133372453	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:133372453A>G	ENST00000450791.2	-	10	2637	c.2454T>C	c.(2452-2454)gcT>gcC	p.A818A	GOLGA3_ENST00000204726.3_Silent_p.A818A|GOLGA3_ENST00000545875.1_Silent_p.A818A|GOLGA3_ENST00000456883.2_Silent_p.A818A|GOLGA3_ENST00000537452.1_Silent_p.A818A			Q08378	GOGA3_HUMAN	golgin A3	818					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CGGATTTGATAGCTAATTCTT	0.433																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2452-2454)gcT>gcC		golgin A3							122.0	123.0	123.0					12																	133372453		2203	4300	6503	SO:0001819	synonymous_variant	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133372453A>G	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.2454T>C	12.37:g.133372453A>G			Somatic				GOLGA3_ENST00000537452.1_Silent_p.A818A|GOLGA3_ENST00000456883.2_Silent_p.A818A|GOLGA3_ENST00000450791.2_Silent_p.A818A|GOLGA3_ENST00000545875.1_Silent_p.A818A	p.A818A	NM_005895.3	NP_005886.2	WXS	Illumina GAIIx	Phase_I	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	11	3012	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	818					A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Silent	SNP	ENST00000450791.2	37	c.2454T>C	CCDS9281.1																																																																																				0.433	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		4	263	0	0	0	1	0	4	263				
SLC4A11	83959	broad.mit.edu	37	20	3214646	3214646	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:3214646G>A	ENST00000380056.3	-	5	621	c.574C>T	c.(574-576)Cac>Tac	p.H192Y	SLC4A11_ENST00000380059.3_Missense_Mutation_p.H219Y|SLC4A11_ENST00000539553.2_Missense_Mutation_p.H176Y	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	192					bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GACAGCAGGTGGACTGAGGAA	0.652																																					NSCLC(190;922 2139 10266 10292 38692)	ENST00000380059.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						c.(655-657)Cac>Tac		solute carrier family 4, sodium borate transporter, member 11							95.0	95.0	95.0					20																	3214646		2203	4300	6503	SO:0001583	missense	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3214646G>A	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.574C>T	20.37:g.3214646G>A	ENSP00000369396:p.His192Tyr		Somatic				SLC4A11_ENST00000539553.1_Missense_Mutation_p.H176Y|SLC4A11_ENST00000380056.3_Missense_Mutation_p.H192Y|SLC4A11_ENST00000474451.1_5'UTR	p.H219Y	NM_001174090.1	NP_001167561.1	WXS	Illumina GAIIx	Phase_I	Q8NBS3	S4A11_HUMAN			6	756	-			192					B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	c.655C>T	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101071	0.76983	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553;ENST00000437836	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	5.07	5.07	0.68467	Phosphotransferase/anion transporter (1);	0.339170	0.31268	N	0.007953	D	0.84871	0.5568	M	0.68952	2.095	0.80722	D	1	D;D;D	0.65815	0.984;0.995;0.995	P;P;P	0.57846	0.828;0.821;0.677	D	0.86351	0.1711	10	0.59425	D	0.04	.	17.4431	0.87570	0.0:0.0:1.0:0.0	.	176;219;192	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	Y	219;192;176;176	ENSP00000369399:H219Y;ENSP00000369396:H192Y;ENSP00000441370:H176Y;ENSP00000404271:H176Y	ENSP00000369396:H192Y	H	-	1	0	SLC4A11	3162646	1.000000	0.71417	0.963000	0.40424	0.302000	0.27658	9.796000	0.99103	2.357000	0.79964	0.563000	0.77884	CAC		0.652	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			4	62	0	0	0	1	0	4	62				
SESTD1	91404	broad.mit.edu	37	2	179974674	179974674	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:179974674G>A	ENST00000428443.3	-	18	2359	c.2043C>T	c.(2041-2043)ctC>ctT	p.L681L		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	681							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GCTGCCTTTTGAGATTAACTA	0.418																																						ENST00000428443.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30						c.(2041-2043)ctC>ctT		SEC14 and spectrin domains 1							220.0	191.0	201.0					2																	179974674		2203	4300	6503	SO:0001819	synonymous_variant	91404				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	g.chr2:179974674G>A	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.2043C>T	2.37:g.179974674G>A			Somatic					p.L681L	NM_178123.4	NP_835224.3	WXS	Illumina GAIIx	Phase_I	Q86VW0	SESD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)		18	2359	-			681					Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Silent	SNP	ENST00000428443.3	37	c.2043C>T	CCDS33338.1																																																																																				0.418	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		4	127	0	0	0	1	0	4	127				
AKR1B10	57016	broad.mit.edu	37	7	134217801	134217801	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:134217801G>A	ENST00000359579.4	+	4	717	c.397G>A	c.(397-399)Ggt>Agt	p.G133S	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	133					cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						TAATGCCATCGGTGGAAAAGC	0.463																																						ENST00000359579.4																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						c.(397-399)Ggt>Agt		aldo-keto reductase family 1, member B10 (aldose reductase)							181.0	173.0	176.0					7																	134217801		2203	4300	6503	SO:0001583	missense	57016				cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	g.chr7:134217801G>A	AF052577	CCDS5832.1	7q33	2010-04-08			ENSG00000198074	ENSG00000198074		"""Aldo-keto reductases"""	382	protein-coding gene	gene with protein product	"""aldose reductase-like 1"", ""aldo-keto reductase family 1, member B11 (aldose reductase-like)"", ""aldose reductase-like peptide"", ""aldose reductase-related protein"", ""small intestine reductase"""	604707		AKR1B11		9765596, 9565553	Standard	NM_020299		Approved	AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn	uc003vrr.3	O60218	OTTHUMG00000155356	ENST00000359579.4:c.397G>A	7.37:g.134217801G>A	ENSP00000352584:p.Gly133Ser		Somatic				AKR1B10_ENST00000475559.1_3'UTR	p.G133S	NM_020299.4	NP_064695.3	WXS	Illumina GAIIx	Phase_I	O60218	AK1BA_HUMAN			4	717	+			133					A4D1P1|O75890|Q6FHF3|Q8IWZ1	Missense_Mutation	SNP	ENST00000359579.4	37	c.397G>A	CCDS5832.1	.	.	.	.	.	.	.	.	.	.	C	9.141	1.013867	0.19277	.	.	ENSG00000198074	ENST00000359579	T	0.16324	2.35	4.68	-9.37	0.00626	NADP-dependent oxidoreductase domain (3);	1.460050	0.03822	N	0.267675	T	0.06645	0.0170	N	0.11064	0.09	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23583	-1.0184	10	0.34782	T	0.22	.	2.637	0.04960	0.0982:0.4724:0.1531:0.2762	.	133	O60218	AK1BA_HUMAN	S	133	ENSP00000352584:G133S	ENSP00000352584:G133S	G	+	1	0	AKR1B10	133868341	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.518000	0.00953	-2.767000	0.00367	0.556000	0.70494	GGT		0.463	AKR1B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339615.1	NM_020299		8	1049	0	0	0	1	0	8	1049				
SLC20A1	6574	broad.mit.edu	37	2	113417337	113417337	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:113417337A>G	ENST00000272542.3	+	8	2144	c.1605A>G	c.(1603-1605)gtA>gtG	p.V535V		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	535					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GCAATGACGTAAGGTCAGTTG	0.458																																						ENST00000272542.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						c.(1603-1605)gtA>gtG		solute carrier family 20 (phosphate transporter), member 1							95.0	89.0	91.0					2																	113417337		2203	4300	6503	SO:0001819	synonymous_variant	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113417337A>G		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317	ENST00000272542.3:c.1605A>G	2.37:g.113417337A>G			Somatic					p.V535V	NM_005415.4	NP_005406.3	WXS	Illumina GAIIx	Phase_I	Q8WUM9	S20A1_HUMAN			8	2144	+			535					Q08344|Q6DHX8|Q9UQ82	Silent	SNP	ENST00000272542.3	37	c.1605A>G	CCDS2099.1																																																																																				0.458	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2	NM_005415		3	172	0	0	0	1	0	3	172				
SERINC1	57515	broad.mit.edu	37	6	122774917	122774917	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:122774917G>T	ENST00000339697.4	-	5	671	c.587C>A	c.(586-588)gCa>gAa	p.A196E		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	196					L-serine transport (GO:0015825)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		AAGCTTACCTGCATACCAACA	0.368																																						ENST00000368454.1																			0				endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13						c.(586-588)gCa>gAa		serine incorporator 1							146.0	128.0	134.0					6																	122774917		2203	4300	6503	SO:0001583	missense	57515				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding	g.chr6:122774917G>T	AF087902	CCDS5125.1	6q22.32	2006-02-09	2005-10-14	2005-10-14	ENSG00000111897	ENSG00000111897			13464	protein-coding gene	gene with protein product		614548	"""tumor differentially expressed 2"""	TDE2		10637174	Standard	NM_020755		Approved	TMS-2, TDE1L, KIAA1253	uc003pyy.1	Q9NRX5	OTTHUMG00000015487	ENST00000339697.4:c.587C>A	6.37:g.122774917G>T	ENSP00000342962:p.Ala196Glu		Somatic				SERINC1_ENST00000339697.3_Missense_Mutation_p.A196E	p.A196E			WXS	Illumina GAIIx	Phase_I	Q9NRX5	SERC1_HUMAN		GBM - Glioblastoma multiforme(226;0.126)	7	916	-			196					B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Missense_Mutation	SNP	ENST00000339697.4	37	c.587C>A	CCDS5125.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785147	0.90282	.	.	ENSG00000111897	ENST00000339697;ENST00000368454	T;T	0.15256	2.44;2.44	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.31199	0.0789	M	0.89715	3.055	0.80722	D	1	B	0.23058	0.079	B	0.39935	0.314	T	0.21143	-1.0254	10	0.62326	D	0.03	-13.1617	19.2537	0.93935	0.0:0.0:1.0:0.0	.	196	Q9NRX5	SERC1_HUMAN	E	196	ENSP00000342962:A196E;ENSP00000357439:A196E	ENSP00000342962:A196E	A	-	2	0	SERINC1	122816616	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.968000	0.87980	2.565000	0.86533	0.655000	0.94253	GCA		0.368	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042031.2	NM_020755		33	231	1	0	3.93418e-24	1	5.47131e-24	33	231				
ASIC1	41	broad.mit.edu	37	12	50472314	50472314	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:50472314G>A	ENST00000447966.2	+	6	1177	c.948G>A	c.(946-948)acG>acA	p.T316T	ASIC1_ENST00000228468.4_Silent_p.T316T|ASIC1_ENST00000552438.1_Silent_p.T350T	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	316					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	ACTGTGAGACGCGCTACCTGG	0.612																																						ENST00000228468.4																			0											c.(946-948)acG>acA		acid-sensing (proton-gated) ion channel 1	Amiloride(DB00594)						158.0	157.0	157.0					12																	50472314		2203	4300	6503	SO:0001819	synonymous_variant	41				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50472314G>A	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.948G>A	12.37:g.50472314G>A			Somatic				ASIC1_ENST00000552438.1_Silent_p.T350T|ASIC1_ENST00000447966.2_Silent_p.T316T	p.T316T	NM_020039.3	NP_064423.2	WXS	Illumina GAIIx	Phase_I	P78348	ACCN2_HUMAN			6	1333	+			316					A3KN86|E5KBL7|P78349|Q96CV2	Silent	SNP	ENST00000447966.2	37	c.948G>A	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	G	6.774	0.511730	0.12944	.	.	ENSG00000110881	ENST00000453327	.	.	.	4.35	-8.71	0.00848	.	.	.	.	.	T	0.44030	0.1274	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64639	-0.6360	4	.	.	.	-17.4443	5.1696	0.15103	0.2739:0.4571:0.0875:0.1815	.	.	.	.	H	184	.	.	R	+	2	0	ACCN2	48758581	0.000000	0.05858	0.016000	0.15963	0.963000	0.63663	-5.657000	0.00106	-5.729000	0.00010	-1.773000	0.00660	CGC		0.612	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		13	920	0	0	0	1	0	13	920				
ZNF740	283337	broad.mit.edu	37	12	53580224	53580224	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:53580224G>T	ENST00000416904.3	+	6	868	c.423G>T	c.(421-423)aaG>aaT	p.K141N		NM_001004304.3	NP_001004304.1	Q8NDX6	ZN740_HUMAN	zinc finger protein 740	141					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)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)	3						TCATCCAGAAGTACCACCTGG	0.502																																						ENST00000416904.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)	3						c.(421-423)aaG>aaT		zinc finger protein 740							75.0	79.0	78.0					12																	53580224		2052	4186	6238	SO:0001583	missense	283337				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr12:53580224G>T	BC053557	CCDS44896.1	12q13.13	2013-01-08				ENSG00000139651		"""Zinc fingers, C2H2-type"""	27465	protein-coding gene	gene with protein product							Standard	NM_001004304		Approved	Zfp740	uc001scb.4	Q8NDX6		ENST00000416904.3:c.423G>T	12.37:g.53580224G>T	ENSP00000409463:p.Lys141Asn		Somatic					p.K141N	NM_001004304.3	NP_001004304.1	WXS	Illumina GAIIx	Phase_I	Q8NDX6	ZN740_HUMAN			6	868	+			141					A8K9M9	Missense_Mutation	SNP	ENST00000416904.3	37	c.423G>T	CCDS44896.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030085	0.75504	.	.	ENSG00000139651	ENST00000416904	T	0.61627	0.09	5.75	3.93	0.45458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000003	T	0.55257	0.1909	L	0.41632	1.29	0.47737	D	0.999508	D	0.65815	0.995	P	0.51193	0.662	T	0.50415	-0.8831	10	0.30854	T	0.27	-12.223	11.8272	0.52273	0.1451:0.0:0.8549:0.0	.	141	Q8NDX6	ZN740_HUMAN	N	141	ENSP00000409463:K141N	ENSP00000409463:K141N	K	+	3	2	ZNF740	51866491	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.329000	0.33770	0.900000	0.36469	0.655000	0.94253	AAG		0.502	ZNF740-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406890.2	NM_001004304		19	52	1	0	1.96292e-10	1	2.54231e-10	19	52				
ANO4	121601	broad.mit.edu	37	12	101295457	101295457	+	5'UTR	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:101295457G>A	ENST00000392977.3	+	0	104				ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000551148.1_3'UTR|ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000538618.1_Missense_Mutation_p.R131H			Q32M45	ANO4_HUMAN	anoctamin 4						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GCTGAAAAGCGTTTGCAAATC	0.507										HNSCC(74;0.22)																												ENST00000538618.1																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(391-393)cGt>cAt		anoctamin 4																																				SO:0001623	5_prime_UTR_variant	121601					chloride channel complex	chloride channel activity	g.chr12:101295457G>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.-107G>A	12.37:g.101295457G>A		HNSCC(74;0.22)	Somatic				ANO4_ENST00000392977.3_5'UTR|ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000551148.1_3'UTR|ANO4_ENST00000299222.9_5'UTR	p.R131H			WXS	Illumina GAIIx	Phase_I	Q32M45	ANO4_HUMAN			4	392	+			0					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.392G>A		.	.	.	.	.	.	.	.	.	.	G	21.5	4.162303	0.78226	.	.	ENSG00000151572	ENST00000538618	T	0.74526	-0.85	5.45	2.64	0.31445	.	.	.	.	.	T	0.73257	0.3564	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69939	-0.5009	6	0.52906	T	0.07	.	4.5118	0.11915	0.299:0.0:0.5553:0.1457	.	.	.	.	H	131	ENSP00000443751:R131H	ENSP00000443751:R131H	R	+	2	0	ANO4	99819588	0.813000	0.29090	0.999000	0.59377	0.980000	0.70556	0.649000	0.24843	0.674000	0.31244	0.655000	0.94253	CGT		0.507	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		20	184	0	0	0	1	0	20	184				
CUX2	23316	broad.mit.edu	37	12	111776090	111776090	+	Splice_Site	SNP	G	G	A	rs574082050		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:111776090G>A	ENST00000261726.6	+	20	3351	c.3197G>A	c.(3196-3198)gGg>gAg	p.G1066E	RNA5SP373_ENST00000517271.1_RNA	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1066					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CTATCCCCAGGGCAGCGGCTG	0.622																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.e20-1		cut-like homeobox 2							43.0	48.0	46.0					12																	111776090		1946	4139	6085	SO:0001630	splice_region_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111776090G>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3197-1G>A	12.37:g.111776090G>A			Somatic					p.G1066_splice	NM_015267.3	NP_056082.2	WXS	Illumina GAIIx	Phase_I	O14529	CUX2_HUMAN			20	3351	+			1066					A7E2Y4	Splice_Site	SNP	ENST00000261726.6	37	c.3196_splice	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813647	0.90790	.	.	ENSG00000111249	ENST00000261726	T	0.58358	0.34	5.32	5.32	0.75619	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.74703	0.3751	M	0.81497	2.545	0.80722	D	1	D	0.67145	0.996	D	0.72982	0.979	T	0.76340	-0.2995	9	.	.	.	.	19.0362	0.92980	0.0:0.0:1.0:0.0	.	1066	O14529	CUX2_HUMAN	E	1066	ENSP00000261726:G1066E	.	G	+	2	0	CUX2	110260473	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	9.813000	0.99286	2.495000	0.84180	0.655000	0.94253	GGG		0.622	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267	Missense_Mutation	13	28	0	0	0	1	0	13	28				
DNAH2	146754	broad.mit.edu	37	17	7691473	7691473	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:7691473A>G	ENST00000572933.1	+	44	8271	c.6811A>G	c.(6811-6813)Aac>Gac	p.N2271D	DNAH2_ENST00000389173.2_Missense_Mutation_p.N2271D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2271	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TAAGAAGGACAACTGCAAGGA	0.557																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(6811-6813)Aac>Gac		dynein, axonemal, heavy chain 2							63.0	53.0	56.0					17																	7691473		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7691473A>G	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6811A>G	17.37:g.7691473A>G	ENSP00000458355:p.Asn2271Asp		Somatic				DNAH2_ENST00000389173.2_Missense_Mutation_p.N2271D	p.N2271D			WXS	Illumina GAIIx	Phase_I	Q9P225	DYH2_HUMAN			44	8271	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2271			AAA 2 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.6811A>G	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	12.85	2.061299	0.36373	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.25579	1.79	4.84	3.75	0.43078	.	0.127745	0.49916	D	0.000131	T	0.24084	0.0583	L	0.58969	1.84	0.80722	D	1	B	0.25850	0.136	B	0.28553	0.091	T	0.03630	-1.1018	10	0.25106	T	0.35	.	8.8512	0.35201	0.8329:0.0:0.0:0.1671	.	2271	Q9P225	DYH2_HUMAN	D	2271	ENSP00000373825:N2271D	ENSP00000353818:N2271D	N	+	1	0	DNAH2	7632198	0.535000	0.26370	0.614000	0.29051	0.920000	0.55202	1.113000	0.31184	0.853000	0.35312	0.459000	0.35465	AAC		0.557	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		10	327	0	0	0	1	0	10	327				
ZNF461	92283	broad.mit.edu	37	19	37130712	37130712	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:37130712T>A	ENST00000588268.1	-	6	762	c.535A>T	c.(535-537)Act>Tct	p.T179S	ZNF461_ENST00000360357.4_Missense_Mutation_p.T156S|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	179					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)			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTGAGTAAAGTATGTTGGCTA	0.333																																						ENST00000588268.1																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29						c.(535-537)Act>Tct		zinc finger protein 461							183.0	178.0	180.0					19																	37130712		1826	4085	5911	SO:0001583	missense	92283				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37130712T>A	BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.535A>T	19.37:g.37130712T>A	ENSP00000467931:p.Thr179Ser		Somatic				ZNF461_ENST00000360357.4_Missense_Mutation_p.T156S|ZNF461_ENST00000540605.2_5'UTR	p.T179S	NM_153257.2	NP_694989.2	WXS	Illumina GAIIx	Phase_I	Q8TAF7	ZN461_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	762	-	Esophageal squamous(110;0.198)		179					A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	ENST00000588268.1	37	c.535A>T	CCDS54257.1	.	.	.	.	.	.	.	.	.	.	T	2.758	-0.258575	0.05791	.	.	ENSG00000197808	ENST00000396893;ENST00000360357;ENST00000540605;ENST00000396892	T	0.05580	3.42	3.87	0.253	0.15551	.	.	.	.	.	T	0.03305	0.0096	L	0.29908	0.895	0.09310	N	1	B;B;B	0.14438	0.003;0.01;0.01	B;B;B	0.06405	0.002;0.002;0.002	T	0.46735	-0.9170	9	0.05525	T	0.97	.	2.5386	0.04720	0.2011:0.2342:0.0:0.5647	.	156;101;179	B4DRP8;Q59G30;Q8TAF7	.;.;ZN461_HUMAN	S	179;156;52;114	ENSP00000353515:T156S	ENSP00000353515:T156S	T	-	1	0	ZNF461	41822552	0.015000	0.18098	0.018000	0.16275	0.864000	0.49448	0.458000	0.21892	0.171000	0.19730	0.533000	0.62120	ACT		0.333	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257		5	252	0	0	0	1	0	5	252				
ANKRD52	283373	broad.mit.edu	37	12	56638938	56638938	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:56638938C>G	ENST00000267116.7	-	22	2562	c.2441G>C	c.(2440-2442)aGc>aCc	p.S814T	ANKRD52_ENST00000548241.1_5'Flank	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	814										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CGAAAACGGGCTGTGTTCAAG	0.522																																						ENST00000267116.7																			0				endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						c.(2440-2442)aGc>aCc		ankyrin repeat domain 52							182.0	164.0	170.0					12																	56638938		2011	4189	6200	SO:0001583	missense	283373						protein binding	g.chr12:56638938C>G	AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.2441G>C	12.37:g.56638938C>G	ENSP00000267116:p.Ser814Thr		Somatic					p.S814T	NM_173595.3	NP_775866.2	WXS	Illumina GAIIx	Phase_I	Q8NB46	ANR52_HUMAN			22	2562	-			814					A6NE79|B1Q2K2	Missense_Mutation	SNP	ENST00000267116.7	37	c.2441G>C	CCDS44920.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214481	0.39102	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.15834	2.39	4.12	4.12	0.48240	Ankyrin repeat-containing domain (4);	0.113287	0.64402	D	0.000012	T	0.13030	0.0316	L	0.38692	1.165	0.32276	N	0.568235	B	0.16802	0.019	B	0.19946	0.027	T	0.04537	-1.0944	10	0.72032	D	0.01	.	6.4057	0.21662	0.0:0.7963:0.0:0.2037	.	814	Q8NB46	ANR52_HUMAN	T	814	ENSP00000267116:S814T	ENSP00000267116:S814T	S	-	2	0	ANKRD52	54925205	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.216000	0.51176	2.317000	0.78254	0.462000	0.41574	AGC		0.522	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408539.1	NM_173595		12	920	0	0	0	1	0	12	920				
TP53BP1	7158	broad.mit.edu	37	15	43707823	43707823	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:43707823C>T	ENST00000263801.3	-	23	5295	c.5043G>A	c.(5041-5043)aaG>aaA	p.K1681K	TP53BP1_ENST00000382039.3_Silent_p.K1636K|TP53BP1_ENST00000382044.4_Silent_p.K1686K|TP53BP1_ENST00000450115.2_Silent_p.K1686K	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1681					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGCGACCTCGCTTGGCAGGGG	0.507								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(5041-5043)aaG>aaA	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							129.0	113.0	119.0					15																	43707823		2201	4298	6499	SO:0001819	synonymous_variant	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43707823C>T	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.5043G>A	15.37:g.43707823C>T			Somatic				TP53BP1_ENST00000450115.2_Silent_p.K1686K|TP53BP1_ENST00000382039.3_Silent_p.K1636K|TP53BP1_ENST00000382044.4_Silent_p.K1686K	p.K1681K	NM_005657.2	NP_005648.1	WXS	Illumina GAIIx	Phase_I	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	23	5295	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1681					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Silent	SNP	ENST00000263801.3	37	c.5043G>A	CCDS10096.1																																																																																				0.507	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			4	435	0	0	0	1	0	4	435				
MGST1	4257	broad.mit.edu	37	12	16516801	16516801	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:16516801C>T	ENST00000396209.1	+	4	437	c.294C>T	c.(292-294)ccC>ccT	p.P98P	MGST1_ENST00000535309.1_Intron|MGST1_ENST00000396207.1_Silent_p.P98P|MGST1_ENST00000010404.2_Silent_p.P98P|MGST1_ENST00000396210.3_Silent_p.P98P|MGST1_ENST00000540056.1_3'UTR	NM_145791.2	NP_665734.1	P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1	98					cellular response to lipid hydroperoxide (GO:0071449)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|Leydig cell differentiation (GO:0033327)|oxidation-reduction process (GO:0055114)|protein homotrimerization (GO:0070207)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	apical part of cell (GO:0045177)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	glutathione binding (GO:0043295)|glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)	p.P98P(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9		Hepatocellular(102;0.121)			Glutathione(DB00143)	TGAGTGGTCCCGACCCCTCTA	0.453																																						ENST00000396209.1																			1	Substitution - coding silent(1)	p.P98P(1)	lung(1)	endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						c.(292-294)ccC>ccT		microsomal glutathione S-transferase 1	Glutathione(DB00143)						167.0	154.0	158.0					12																	16516801		2203	4300	6503	SO:0001819	synonymous_variant	4257				protein homotrimerization|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	glutathione transferase activity	g.chr12:16516801C>T	U46494	CCDS8677.1, CCDS58209.1	12p12.3-p12.1	2012-06-21			ENSG00000008394	ENSG00000008394	2.5.1.18	"""Glutathione S-transferases / Microsomal"""	7061	protein-coding gene	gene with protein product		138330		GST12			Standard	NM_145792		Approved	MGST-I	uc031qgl.1	P10620	OTTHUMG00000168816	ENST00000396209.1:c.294C>T	12.37:g.16516801C>T			Somatic				MGST1_ENST00000396210.3_Silent_p.P98P|MGST1_ENST00000010404.2_Silent_p.P98P|MGST1_ENST00000540056.1_3'UTR|MGST1_ENST00000535309.1_Intron|MGST1_ENST00000396207.1_Silent_p.P98P	p.P98P	NM_145791.2	NP_665734.1	WXS	Illumina GAIIx	Phase_I	P10620	MGST1_HUMAN			4	437	+		Hepatocellular(102;0.121)	98					A8K533|G5EA53	Silent	SNP	ENST00000396209.1	37	c.294C>T	CCDS8677.1																																																																																				0.453	MGST1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401189.1	NM_145791		4	246	0	0	0	1	0	4	246				
KIAA1551	55196	broad.mit.edu	37	12	32145408	32145408	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:32145408C>A	ENST00000312561.4	+	6	5597	c.5183C>A	c.(5182-5184)aCc>aAc	p.T1728N	KIAA1551_ENST00000535596.1_3'UTR	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1728																	ATGTTTCAAACCTACAAACAG	0.368																																						ENST00000312561.4																			0											c.(5182-5184)aCc>aAc		KIAA1551							142.0	157.0	152.0					12																	32145408		2203	4300	6503	SO:0001583	missense	55196							g.chr12:32145408C>A	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.5183C>A	12.37:g.32145408C>A	ENSP00000310338:p.Thr1728Asn		Somatic				KIAA1551_ENST00000535596.1_3'UTR	p.T1728N	NM_018169.3	NP_060639.3	WXS	Illumina GAIIx	Phase_I					6	5597	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.5183C>A	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	C	15.72	2.916037	0.52546	.	.	ENSG00000174718	ENST00000312561	T	0.32515	1.45	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000017	T	0.56262	0.1973	M	0.67953	2.075	0.44927	D	0.997941	D	0.89917	1.0	D	0.97110	1.0	T	0.57406	-0.7817	10	0.87932	D	0	.	17.9462	0.89039	0.0:1.0:0.0:0.0	.	1728	Q9HCM1	CL035_HUMAN	N	1728	ENSP00000310338:T1728N	ENSP00000310338:T1728N	T	+	2	0	C12orf35	32036675	1.000000	0.71417	0.984000	0.44739	0.007000	0.05969	2.088000	0.41663	2.649000	0.89929	0.655000	0.94253	ACC		0.368	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		20	204	1	0	0.014323	1	0.0153482	20	204				
FCHSD1	89848	broad.mit.edu	37	5	141026213	141026213	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:141026213C>T	ENST00000435817.2	-	11	1051	c.1001G>A	c.(1000-1002)aGc>aAc	p.S334N	FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Missense_Mutation_p.S332N|FCHSD1_ENST00000522126.1_Missense_Mutation_p.S258N	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	334								p.S334I(1)	FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAGCTCGGCTGGTCAAGCG	0.602																																						ENST00000435817.2																		FCHSD1/BRAF(2)	1	Substitution - Missense(1)	p.S334I(1)	lung(1)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1000-1002)aGc>aAc		FCH and double SH3 domains 1							35.0	39.0	38.0					5																	141026213		2008	4153	6161	SO:0001583	missense	89848							g.chr5:141026213C>T	AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.1001G>A	5.37:g.141026213C>T	ENSP00000399259:p.Ser334Asn		Somatic				FCHSD1_ENST00000522126.1_Missense_Mutation_p.S258N|FCHSD1_ENST00000522783.1_Missense_Mutation_p.S332N|FCHSD1_ENST00000523856.1_5'UTR	p.S334N	NM_033449.2	NP_258260.1	WXS	Illumina GAIIx	Phase_I	Q86WN1	FCSD1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	1051	-			334					Q6UX75|Q86Y77|Q9NXX8	Missense_Mutation	SNP	ENST00000435817.2	37	c.1001G>A	CCDS47295.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.734958	0.48939	.	.	ENSG00000197948	ENST00000435817;ENST00000522126;ENST00000522783	T;T;T	0.44482	1.67;0.92;1.32	5.17	2.36	0.29203	.	0.140580	0.43260	D	0.000590	T	0.24586	0.0596	L	0.29908	0.895	0.34320	D	0.686515	B	0.11235	0.004	B	0.12837	0.008	T	0.14117	-1.0484	10	0.42905	T	0.14	-15.0758	2.031	0.03529	0.1205:0.427:0.217:0.2355	.	334	Q86WN1	FCSD1_HUMAN	N	334;258;332	ENSP00000399259:S334N;ENSP00000427796:S258N;ENSP00000428677:S332N	ENSP00000399259:S334N	S	-	2	0	FCHSD1	141006397	0.998000	0.40836	0.753000	0.31225	0.982000	0.71751	0.611000	0.24268	0.686000	0.31488	0.462000	0.41574	AGC		0.602	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2	NM_033449		5	16	0	0	0	1	0	5	16				
SCMH1	22955	broad.mit.edu	37	1	41579133	41579133	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:41579133C>A	ENST00000326197.7	-	7	836	c.537G>T	c.(535-537)aaG>aaT	p.K179N	SCMH1_ENST00000361191.5_Missense_Mutation_p.K118N|SCMH1_ENST00000337495.5_Missense_Mutation_p.K189N|SCMH1_ENST00000372595.1_Missense_Mutation_p.K118N|SCMH1_ENST00000402904.2_Missense_Mutation_p.K179N|SCMH1_ENST00000397174.2_Missense_Mutation_p.K159N|SCMH1_ENST00000372597.1_Missense_Mutation_p.K132N|SCMH1_ENST00000397171.2_Missense_Mutation_p.K118N|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000361705.3_Missense_Mutation_p.K132N|SCMH1_ENST00000372596.1_Missense_Mutation_p.K118N					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				AATGAGGGTTCTTCCTGTCCA	0.512																																						ENST00000402904.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15						c.(535-537)aaG>aaT		sex comb on midleg homolog 1 (Drosophila)							81.0	81.0	81.0					1																	41579133		2203	4300	6503	SO:0001583	missense	22955				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:41579133C>A	AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.537G>T	1.37:g.41579133C>A	ENSP00000318094:p.Lys179Asn		Somatic				SCMH1_ENST00000361191.5_Missense_Mutation_p.K118N|SCMH1_ENST00000397171.2_Missense_Mutation_p.K118N|SCMH1_ENST00000361705.3_Missense_Mutation_p.K132N|SCMH1_ENST00000397174.2_Missense_Mutation_p.K159N|SCMH1_ENST00000372597.1_Missense_Mutation_p.K132N|SCMH1_ENST00000337495.5_Missense_Mutation_p.K189N|SCMH1_ENST00000326197.7_Missense_Mutation_p.K179N|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000372595.1_Missense_Mutation_p.K118N|SCMH1_ENST00000372596.1_Missense_Mutation_p.K118N	p.K179N	NM_001031694.2	NP_001026864.1	WXS	Illumina GAIIx	Phase_I	Q96GD3	SCMH1_HUMAN			8	905	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)	179						Missense_Mutation	SNP	ENST00000326197.7	37	c.537G>T	CCDS30688.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216261	0.79352	.	.	ENSG00000010803	ENST00000361705;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	T;T;T;T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.58906	0.2155	M	0.79693	2.465	0.80722	D	1	D;D;P	0.89917	0.999;1.0;0.796	D;D;B	0.76575	0.987;0.988;0.351	T	0.55515	-0.8129	10	0.33940	T	0.23	.	18.4399	0.90662	0.0:1.0:0.0:0.0	.	189;132;179	Q96GD3-2;Q96GD3-4;Q96GD3	.;.;SCMH1_HUMAN	N	132;179;159;118;118;132;118;189;118;179	ENSP00000354996:K132N;ENSP00000386079:K179N;ENSP00000380359:K159N;ENSP00000380356:K118N;ENSP00000354656:K118N;ENSP00000361678:K132N;ENSP00000361677:K118N;ENSP00000337352:K189N;ENSP00000361676:K118N;ENSP00000318094:K179N	ENSP00000318094:K179N	K	-	3	2	SCMH1	41351720	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.636000	0.61339	2.704000	0.92352	0.557000	0.71058	AAG		0.512	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1			6	62	1	0	0.0215528	1	0.022713	6	62				
SHROOM3	57619	broad.mit.edu	37	4	77652058	77652058	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:77652058G>A	ENST00000296043.6	+	4	1510	c.557G>A	c.(556-558)gGc>gAc	p.G186D	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	186					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGTATGATCGGCCCTCCTTGG	0.498																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(556-558)gGc>gAc		shroom family member 3							193.0	176.0	181.0					4																	77652058		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77652058G>A	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.557G>A	4.37:g.77652058G>A	ENSP00000296043:p.Gly186Asp		Somatic				SHROOM3_ENST00000473602.1_3'UTR	p.G186D	NM_020859.3	NP_065910.3	WXS	Illumina GAIIx	Phase_I	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		4	1510	+			186					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.557G>A	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686714	0.88639	.	.	ENSG00000138771	ENST00000296043;ENST00000380735	T	0.43294	0.95	5.73	5.73	0.89815	.	0.167420	0.42682	D	0.000665	T	0.66015	0.2747	M	0.72894	2.215	0.45914	D	0.99875	D;D	0.89917	1.0;0.995	D;P	0.70227	0.968;0.904	T	0.67585	-0.5633	10	0.87932	D	0	-24.2273	19.8928	0.96935	0.0:0.0:1.0:0.0	.	10;186	B4E244;Q8TF72	.;SHRM3_HUMAN	D	186;61	ENSP00000296043:G186D	ENSP00000296043:G186D	G	+	2	0	SHROOM3	77871082	1.000000	0.71417	0.999000	0.59377	0.826000	0.46750	8.241000	0.89816	2.713000	0.92767	0.591000	0.81541	GGC		0.498	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		6	441	0	0	0	1	0	6	441				
AXIN1	8312	broad.mit.edu	37	16	347159	347159	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:347159C>A	ENST00000262320.3	-	7	2223	c.1852G>T	c.(1852-1854)Gag>Tag	p.E618*	AXIN1_ENST00000354866.3_Nonsense_Mutation_p.E618*|AXIN1_ENST00000481769.1_5'Flank	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	618	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CCTGGCACCTCGGTGCTGGCG	0.612																																						ENST00000262320.3																			0				biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221						c.(1852-1854)Gag>Tag		axin 1							219.0	210.0	213.0					16																	347159		2203	4300	6503	SO:0001587	stop_gained	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:347159C>A	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1852G>T	16.37:g.347159C>A	ENSP00000262320:p.Glu618*		Somatic				AXIN1_ENST00000354866.3_Nonsense_Mutation_p.E618*	p.E618*	NM_003502.3	NP_003493.1	WXS	Illumina GAIIx	Phase_I	O15169	AXIN1_HUMAN			7	2223	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	618			Interaction with PPP2CA.|Interaction with RNF111.		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Nonsense_Mutation	SNP	ENST00000262320.3	37	c.1852G>T	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	C	39	7.568380	0.98365	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	.	.	.	4.98	4.02	0.46733	.	0.156231	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-1.1885	13.1589	0.59533	0.0:0.9217:0.0:0.0782	.	.	.	.	X	618	.	ENSP00000262320:E618X	E	-	1	0	AXIN1	287160	0.510000	0.26171	0.287000	0.24848	0.008000	0.06430	1.583000	0.36579	1.088000	0.41272	0.478000	0.44815	GAG		0.612	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			4	112	1	0	1	1	1	4	112				
WBP11P1	441818	broad.mit.edu	37	18	30092540	30092540	+	RNA	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr18:30092540G>A	ENST00000567636.1	+	0	915					NR_003558.1				WW domain binding protein 11 pseudogene 1																		GCCCAGCGAGGTCATGATGAT	0.488																																						ENST00000567636.1																			0																																																			441818							g.chr18:30092540G>A	BC059403		18q12.1	2007-05-15				ENSG00000260389			26250	pseudogene	pseudogene							Standard	NR_003558		Approved	HsT3017	uc010dmc.3				18.37:g.30092540G>A			Somatic						NR_003558.1		WXS	Illumina GAIIx	Phase_I					0	915	+									RNA	SNP	ENST00000567636.1	37																																																																																						0.488	WBP11P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435119.1			12	500	0	0	0	1	0	12	500				
OR9G4	283189	broad.mit.edu	37	11	56510859	56510859	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:56510859G>A	ENST00000302957.3	-	1	428	c.429C>T	c.(427-429)aaC>aaT	p.N143N		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	143						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AAAGCAATGGGTTACAAATTG	0.498																																						ENST00000302957.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(427-429)aaC>aaT		olfactory receptor, family 9, subfamily G, member 4							116.0	119.0	118.0					11																	56510859		2201	4296	6497	SO:0001819	synonymous_variant	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56510859G>A	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.429C>T	11.37:g.56510859G>A			Somatic					p.N143N	NM_001005284.1	NP_001005284.1	WXS	Illumina GAIIx	Phase_I	Q8NGQ1	OR9G4_HUMAN			1	428	-			143					Q6IF62|Q96RA9	Silent	SNP	ENST00000302957.3	37	c.429C>T	CCDS31537.1																																																																																				0.498	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		40	217	0	0	0	1	0	40	217				
CPXM2	119587	broad.mit.edu	37	10	125514252	125514252	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:125514252C>A	ENST00000241305.3	-	13	2098	c.1944G>T	c.(1942-1944)gtG>gtT	p.V648V	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	648					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GTGAATCTCTCACCAAGCCTT	0.498																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1942-1944)gtG>gtT		carboxypeptidase X (M14 family), member 2							295.0	252.0	267.0					10																	125514252		2203	4300	6503	SO:0001819	synonymous_variant	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125514252C>A	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1944G>T	10.37:g.125514252C>A			Somatic				CPXM2_ENST00000368854.3_5'UTR	p.V648V	NM_198148.2	NP_937791.2	WXS	Illumina GAIIx	Phase_I	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	13	2098	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	648					B4E3Q2	Silent	SNP	ENST00000241305.3	37	c.1944G>T	CCDS7637.1																																																																																				0.498	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		8	223	1	0	0.00621372	1	0.00672932	8	223				
PGLYRP4	57115	broad.mit.edu	37	1	153314103	153314103	+	Splice_Site	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:153314103C>A	ENST00000359650.5	-	6	689	c.625G>T	c.(625-627)Gct>Tct	p.A209S	PGLYRP4_ENST00000368739.3_Splice_Site_p.A205S	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	209					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAGGTCTTACCCTTCTTCAGG	0.542																																						ENST00000368739.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.e6+1		peptidoglycan recognition protein 4							100.0	96.0	98.0					1																	153314103		2203	4300	6503	SO:0001630	splice_region_variant	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153314103C>A	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.625+1G>T	1.37:g.153314103C>A			Somatic				PGLYRP4_ENST00000359650.5_Splice_Site_p.A209_splice	p.A205_splice			WXS	Illumina GAIIx	Phase_I	Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	971	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		209					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Splice_Site	SNP	ENST00000359650.5	37	c.613_splice	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.335061	0.41398	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.12984	2.63;2.63	4.2	4.2	0.49525	N-acetylmuramoyl-L-alanine amidase domain (4);	0.402704	0.20520	N	0.090713	T	0.14614	0.0353	L	0.58669	1.825	0.26219	N	0.979181	P;P	0.46512	0.695;0.879	P;P	0.55345	0.665;0.774	T	0.01853	-1.1260	9	.	.	.	-50.8354	11.8891	0.52618	0.0:1.0:0.0:0.0	.	205;209	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	S	205;209	ENSP00000357728:A205S;ENSP00000352672:A209S	.	A	-	1	0	PGLYRP4	151580727	0.998000	0.40836	0.995000	0.50966	0.328000	0.28507	3.004000	0.49513	2.148000	0.66965	0.591000	0.81541	GCT		0.542	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393	Missense_Mutation	6	287	1	0	3.59834e-05	1	4.14379e-05	6	287				
RBM19	9904	broad.mit.edu	37	12	114385216	114385216	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:114385216C>A	ENST00000545145.2	-	11	1408	c.1330G>T	c.(1330-1332)Ggt>Tgt	p.G444C	RBM19_ENST00000261741.5_Missense_Mutation_p.G444C|RBM19_ENST00000392561.3_Missense_Mutation_p.G444C	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	444	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					AATGCAAAACCCTTGGGTTTC	0.602																																						ENST00000545145.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.(1330-1332)Ggt>Tgt		RNA binding motif protein 19							137.0	117.0	124.0					12																	114385216		2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114385216C>A	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1330G>T	12.37:g.114385216C>A	ENSP00000442053:p.Gly444Cys		Somatic				RBM19_ENST00000392561.3_Missense_Mutation_p.G444C|RBM19_ENST00000261741.5_Missense_Mutation_p.G444C	p.G444C	NM_001146699.1	NP_001140171.1	WXS	Illumina GAIIx	Phase_I	Q9Y4C8	RBM19_HUMAN			11	1408	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		444			RRM 3.		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.1330G>T	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222027	0.79464	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.15372	2.43;2.43;2.43	5.15	4.26	0.50523	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.48589	0.1508	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59542	-0.7435	10	0.87932	D	0	-27.6028	13.464	0.61243	0.0:0.924:0.0:0.076	.	444	Q9Y4C8	RBM19_HUMAN	C	444	ENSP00000442053:G444C;ENSP00000376344:G444C;ENSP00000261741:G444C	ENSP00000261741:G444C	G	-	1	0	RBM19	112869599	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.375000	0.79646	1.177000	0.42855	0.655000	0.94253	GGT		0.602	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		19	99	1	0	4.35082e-09	1	5.52261e-09	19	99				
C2orf42	54980	broad.mit.edu	37	2	70396783	70396783	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:70396783C>A	ENST00000264434.2	-	6	1429	c.1050G>T	c.(1048-1050)caG>caT	p.Q350H	C2orf42_ENST00000420306.1_Missense_Mutation_p.Q350H	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	350										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CATCTAACAGCTGACCACAGG	0.388																																						ENST00000264434.2																			0				endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(1048-1050)caG>caT		chromosome 2 open reading frame 42							102.0	88.0	93.0					2																	70396783		2203	4300	6503	SO:0001583	missense	54980							g.chr2:70396783C>A	AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.1050G>T	2.37:g.70396783C>A	ENSP00000264434:p.Gln350His		Somatic				C2orf42_ENST00000420306.1_Missense_Mutation_p.Q350H	p.Q350H	NM_017880.1	NP_060350.1	WXS	Illumina GAIIx	Phase_I	Q9NWW7	CB042_HUMAN			6	1429	-			350					D6W5G3|Q9H629	Missense_Mutation	SNP	ENST00000264434.2	37	c.1050G>T	CCDS1899.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.391122	0.42410	.	.	ENSG00000115998	ENST00000264434;ENST00000420306	D;D	0.94000	-3.33;-3.33	5.09	2.3	0.28687	.	0.317958	0.30890	N	0.008668	D	0.90535	0.7034	L	0.46157	1.445	0.28537	N	0.912271	D	0.54207	0.965	P	0.47981	0.563	D	0.85442	0.1155	10	0.72032	D	0.01	-21.4169	7.2	0.25874	0.0:0.5929:0.0:0.4071	.	350	Q9NWW7	CB042_HUMAN	H	350	ENSP00000264434:Q350H;ENSP00000404515:Q350H	ENSP00000264434:Q350H	Q	-	3	2	C2orf42	70250287	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	0.814000	0.27239	0.746000	0.32786	-0.142000	0.14014	CAG		0.388	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251840.1	NM_017880		3	39	1	0	0.115264	1	0.119247	3	39				
C6	729	broad.mit.edu	37	5	41149560	41149560	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:41149560C>T	ENST00000263413.3	-	17	2670	c.2406G>A	c.(2404-2406)gtG>gtA	p.V802V	C6_ENST00000337836.5_Silent_p.V802V	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	802	C5b-binding domain.|Factor I module (FIM) 1.|Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGTGTCAAACACACAGAGAT	0.398																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(2404-2406)gtG>gtA		complement component 6							121.0	129.0	127.0					5																	41149560		2203	4300	6503	SO:0001819	synonymous_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41149560C>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2406G>A	5.37:g.41149560C>T			Somatic				C6_ENST00000337836.5_Silent_p.V802V	p.V802V	NM_001115131.1	NP_001108603.2	WXS	Illumina GAIIx	Phase_I	P13671	CO6_HUMAN			17	2670	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	802			C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.			Silent	SNP	ENST00000263413.3	37	c.2406G>A	CCDS3936.1																																																																																				0.398	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			6	317	0	0	0	1	0	6	317				
LPHN2	23266	broad.mit.edu	37	1	82416143	82416143	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:82416143G>T	ENST00000370728.1	+	9	2114	c.1469G>T	c.(1468-1470)cGa>cTa	p.R490L	LPHN2_ENST00000370727.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370717.2_Missense_Mutation_p.R490L|LPHN2_ENST00000370725.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370730.1_Missense_Mutation_p.R490L|LPHN2_ENST00000394879.1_Missense_Mutation_p.R490L|LPHN2_ENST00000271029.4_Missense_Mutation_p.R490L|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000359929.3_Missense_Mutation_p.R490L|LPHN2_ENST00000319517.6_Missense_Mutation_p.R490L|LPHN2_ENST00000370723.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370715.1_Missense_Mutation_p.R490L|LPHN2_ENST00000335786.5_Missense_Mutation_p.R490L|LPHN2_ENST00000370721.1_Missense_Mutation_p.R428L|LPHN2_ENST00000370713.1_Missense_Mutation_p.R490L			O95490	LPHN2_HUMAN	latrophilin 2	490					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATGGTTGAACGACCATGCCCT	0.383																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(1468-1470)cGa>cTa		latrophilin 2							85.0	86.0	85.0					1																	82416143		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82416143G>T	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1469G>T	1.37:g.82416143G>T	ENSP00000359763:p.Arg490Leu		Somatic				LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370727.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370721.1_Missense_Mutation_p.R428L|LPHN2_ENST00000271029.4_Missense_Mutation_p.R490L|LPHN2_ENST00000370717.2_Missense_Mutation_p.R490L|LPHN2_ENST00000319517.6_Missense_Mutation_p.R490L|LPHN2_ENST00000335786.5_Missense_Mutation_p.R490L|LPHN2_ENST00000370730.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370725.1_Missense_Mutation_p.R490L|LPHN2_ENST00000359929.3_Missense_Mutation_p.R490L|LPHN2_ENST00000394879.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370715.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370713.1_Missense_Mutation_p.R490L	p.R490L			WXS	Illumina GAIIx	Phase_I	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	9	2114	+			490					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.1469G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.67|16.67	3.188503|3.188503	0.57909|0.57909	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.62639	.|0.01;0.01;0.01;0.01;0.01;0.01;0.01;0.01;0.01;0.01;0.01;0.01;0.01;0.01	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.77935|0.77935	0.4205|0.4205	M|M	0.83483|0.83483	2.645|2.645	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.998;1.0	.|D;D;D	.|0.77557	.|0.99;0.951;0.99	T|T	0.73827|0.73827	-0.3860|-0.3860	5|10	.|0.31617	.|T	.|0.26	.|.	20.2422|20.2422	0.98381|0.98381	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|490;490;490	.|O95490-3;O95490-4;O95490-2	.|.;.;.	Y|L	358|428;490;490;490;490;490;490;490;490;490;490;490;490;490	.|ENSP00000359756:R428L;ENSP00000359763:R490L;ENSP00000359765:R490L;ENSP00000359762:R490L;ENSP00000359760:R490L;ENSP00000359758:R490L;ENSP00000353006:R490L;ENSP00000359750:R490L;ENSP00000359748:R490L;ENSP00000322270:R490L;ENSP00000359752:R490L;ENSP00000378344:R490L;ENSP00000271029:R490L;ENSP00000337306:R490L	.|ENSP00000271029:R490L	D|R	+|+	1|2	0|0	LPHN2|LPHN2	82188731|82188731	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.981000|0.981000	0.71138|0.71138	7.733000|7.733000	0.84916|0.84916	2.782000|2.782000	0.95742|0.95742	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.383	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		21	136	1	0	6.12954e-19	1	8.38692e-19	21	136				
MYZAP	100820829	broad.mit.edu	37	15	57921931	57921931	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:57921931G>A	ENST00000267853.5	+	6	651	c.557G>A	c.(556-558)aGc>aAc	p.S186N	GCOM1_ENST00000380560.2_Missense_Mutation_p.S117N|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380568.3_Missense_Mutation_p.S186N|MYZAP_ENST00000380565.4_Missense_Mutation_p.S186N|GCOM1_ENST00000587652.1_Missense_Mutation_p.S186N|GCOM1_ENST00000380569.2_Missense_Mutation_p.S186N|GCOM1_ENST00000396180.1_Missense_Mutation_p.S155N|GCOM1_ENST00000572390.1_Missense_Mutation_p.S186N|GCOM1_ENST00000574161.1_Missense_Mutation_p.S186N|GCOM1_ENST00000380561.2_Missense_Mutation_p.S155N			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	186					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											TTGGAAAACAGCAACATTAAG	0.458																																						ENST00000574161.1																			0				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						c.(556-558)aGc>aAc									97.0	90.0	92.0					15																	57921931		2192	4292	6484	SO:0001583	missense	145781				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band		g.chr15:57921931G>A	FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"""myocardium-enriched zonula adherens protein"""	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.557G>A	15.37:g.57921931G>A	ENSP00000267853:p.Ser186Asn		Somatic				GCOM1_ENST00000380568.3_Missense_Mutation_p.S186N|GCOM1_ENST00000380569.2_Missense_Mutation_p.S186N|GCOM1_ENST00000572390.1_Missense_Mutation_p.S186N|GCOM1_ENST00000587652.1_Missense_Mutation_p.S186N|GCOM1_ENST00000396180.1_Missense_Mutation_p.S155N|MYZAP_ENST00000380565.4_Missense_Mutation_p.S186N|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380560.2_Missense_Mutation_p.S117N|GCOM1_ENST00000380561.2_Missense_Mutation_p.S155N|MYZAP_ENST00000267853.5_Missense_Mutation_p.S186N	p.S186N	NM_001018100.3	NP_001018110.1	WXS	Illumina GAIIx	Phase_I	P0CAP1	GCOM1_HUMAN			6	676	+			186					D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Missense_Mutation	SNP	ENST00000267853.5	37	c.557G>A	CCDS10162.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.152670	0.57259	.	.	ENSG00000137878	ENST00000380569;ENST00000380561;ENST00000396180;ENST00000380560;ENST00000267853;ENST00000380565;ENST00000380568	T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.43	5.43	0.79202	.	0.256935	0.45606	D	0.000351	T	0.42154	0.1190	L	0.54323	1.7	0.80722	D	1	P;P;D;P	0.58268	0.95;0.95;0.982;0.865	P;P;P;P	0.54889	0.648;0.648;0.763;0.604	T	0.13953	-1.0490	10	0.41790	T	0.15	-15.6238	12.9634	0.58472	0.0:0.2753:0.7247:0.0	.	186;186;186;186	P0CAP1-2;P0CAP1-11;P0CAP1-4;P0CAP1	.;.;.;GCOM1_HUMAN	N	186;155;155;117;186;186;186	ENSP00000369943:S186N;ENSP00000369935:S155N;ENSP00000379483:S155N;ENSP00000369933:S117N;ENSP00000267853:S186N;ENSP00000369939:S186N;ENSP00000369942:S186N	ENSP00000267853:S186N	S	+	2	0	GCOM1	55709223	0.969000	0.33509	0.997000	0.53966	0.429000	0.31625	1.997000	0.40786	2.540000	0.85666	0.650000	0.86243	AGC		0.458	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2	NM_001018100		7	697	0	0	0	1	0	7	697				
REV3L	5980	broad.mit.edu	37	6	111697676	111697676	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:111697676G>T	ENST00000358835.3	-	14	2336	c.1882C>A	c.(1882-1884)Cct>Act	p.P628T	REV3L_ENST00000368805.1_Missense_Mutation_p.P628T|REV3L_ENST00000435970.1_Missense_Mutation_p.P550T|REV3L_ENST00000368802.3_Missense_Mutation_p.P628T			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	628					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAAGATCCAGGGTATTTCATA	0.323								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(1648-1650)Cct>Act	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							56.0	61.0	59.0					6																	111697676		2197	4295	6492	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111697676G>T	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.1882C>A	6.37:g.111697676G>T	ENSP00000351697:p.Pro628Thr		Somatic				REV3L_ENST00000368802.3_Missense_Mutation_p.P628T|REV3L_ENST00000358835.3_Missense_Mutation_p.P628T|REV3L_ENST00000368805.1_Missense_Mutation_p.P628T	p.P550T			WXS	Illumina GAIIx	Phase_I	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	2464	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	628					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.1648C>A	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	10.49	1.363862	0.24684	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01647	4.81;4.81;4.81;4.71	5.31	2.55	0.30701	Ribonuclease H-like (1);	7739.210000	0.00166	N	0.000001	T	0.00998	0.0033	L	0.29908	0.895	0.31297	N	0.688707	P	0.48589	0.912	B	0.43754	0.43	T	0.49214	-0.8963	10	0.72032	D	0.01	-20.6465	9.8151	0.40846	0.225:0.0:0.775:0.0	.	628	O60673	DPOLZ_HUMAN	T	628;628;628;550	ENSP00000357792:P628T;ENSP00000357795:P628T;ENSP00000351697:P628T;ENSP00000402003:P550T	ENSP00000351697:P628T	P	-	1	0	REV3L	111804369	1.000000	0.71417	0.996000	0.52242	0.844000	0.47949	4.506000	0.60428	0.240000	0.21263	0.563000	0.77884	CCT		0.323	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		4	50	1	0	0.217242	1	0.220711	4	50				
MUC16	94025	broad.mit.edu	37	19	9088165	9088165	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:9088165A>T	ENST00000397910.4	-	1	3853	c.3650T>A	c.(3649-3651)cTg>cAg	p.L1217Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1217	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						CAAGGGAACCAGGGTGCTTTT	0.502																																						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.(3649-3651)cTg>cAg		mucin 16, cell surface associated							241.0	233.0	236.0					19																	9088165		2052	4211	6263	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088165A>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.3650T>A	19.37:g.9088165A>T	ENSP00000381008:p.Leu1217Gln		Somatic					p.L1217Q	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			1	3853	-			1217			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.3650T>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	2.180	-0.387813	0.04932	.	.	ENSG00000181143	ENST00000397910	T	0.03242	4.0	1.38	-1.54	0.08584	.	.	.	.	.	T	0.01800	0.0057	N	0.08118	0	.	.	.	D	0.58268	0.982	B	0.41332	0.354	T	0.43426	-0.9392	8	0.87932	D	0	.	2.4292	0.04467	0.2583:0.3215:0.4202:0.0	.	1217	B5ME49	.	Q	1217	ENSP00000381008:L1217Q	ENSP00000381008:L1217Q	L	-	2	0	MUC16	8949165	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.400000	0.07241	-0.338000	0.08413	0.254000	0.18369	CTG		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	874	0	0	0	1	0	7	874				
ZBTB22	9278	broad.mit.edu	37	6	33283506	33283506	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:33283506A>G	ENST00000431845.2	-	2	1339	c.1188T>C	c.(1186-1188)ctT>ctC	p.L396L	TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000426633.2_5'Flank|ZBTB22_ENST00000418724.1_Silent_p.L396L|TAPBP_ENST00000456592.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	396					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CTGAGTCATCAAGACCTGCCA	0.612																																						ENST00000431845.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(1186-1188)ctT>ctC		zinc finger and BTB domain containing 22							125.0	138.0	133.0					6																	33283506		2203	4300	6503	SO:0001819	synonymous_variant	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33283506A>G	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1188T>C	6.37:g.33283506A>G			Somatic				ZBTB22_ENST00000418724.1_Silent_p.L396L	p.L396L	NM_005453.4	NP_005444.4	WXS	Illumina GAIIx	Phase_I	O15209	ZBT22_HUMAN			2	1339	-			396					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Silent	SNP	ENST00000431845.2	37	c.1188T>C	CCDS4775.1																																																																																				0.612	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			8	424	0	0	0	1	0	8	424				
APOL6	80830	broad.mit.edu	37	22	36054744	36054744	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr22:36054744G>T	ENST00000409652.4	+	3	409	c.133G>T	c.(133-135)Gaa>Taa	p.E45*		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	45					lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						ATTTTTGAGAGAATTTCCCAG	0.443																																						ENST00000409652.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						c.(133-135)Gaa>Taa		apolipoprotein L, 6							62.0	67.0	65.0					22																	36054744		2203	4300	6503	SO:0001587	stop_gained	80830				lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity	g.chr22:36054744G>T	AY014879	CCDS13919.1	22q12.3	2013-01-24			ENSG00000221963	ENSG00000221963		"""Apolipoproteins"""	14870	protein-coding gene	gene with protein product		607256				11374903, 15671246	Standard	NM_030641		Approved	APOL-VI, APOLVI	uc003aoe.3	Q9BWW8	OTTHUMG00000150615	ENST00000409652.4:c.133G>T	22.37:g.36054744G>T	ENSP00000386280:p.Glu45*		Somatic					p.E45*	NM_030641.3	NP_085144.1	WXS	Illumina GAIIx	Phase_I	Q9BWW8	APOL6_HUMAN			3	409	+			45					Q5R3S1|Q658J1|Q8IXX6|Q9UGG1	Nonsense_Mutation	SNP	ENST00000409652.4	37	c.133G>T	CCDS13919.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846690	0.91277	.	.	ENSG00000221963	ENST00000409652	.	.	.	4.16	-0.742	0.11108	.	0.138374	0.46145	D	0.000305	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-0.5527	5.4059	0.16320	0.1859:0.3129:0.5012:0.0	.	.	.	.	X	45	.	ENSP00000386280:E45X	E	+	1	0	APOL6	34384690	0.527000	0.26306	0.003000	0.11579	0.159000	0.22180	0.809000	0.27168	-0.110000	0.12022	-0.150000	0.13652	GAA		0.443	APOL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319081.2	NM_030641		9	49	1	0	1.12685e-05	1	1.33699e-05	9	49				
OR7G3	390883	broad.mit.edu	37	19	9237454	9237454	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:9237454G>A	ENST00000305444.2	-	1	172	c.173C>T	c.(172-174)cCc>cTc	p.P58L		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GAAGTACATGGGGGTGTGGAG	0.557																																						ENST00000305444.2																			0				NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(172-174)cCc>cTc		olfactory receptor, family 7, subfamily G, member 3							117.0	95.0	102.0					19																	9237454		2203	4300	6503	SO:0001583	missense	390883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9237454G>A		CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"""GPCR / Class A : Olfactory receptors"""	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.173C>T	19.37:g.9237454G>A	ENSP00000302867:p.Pro58Leu		Somatic					p.P58L	NM_001001958.1	NP_001001958.1	WXS	Illumina GAIIx	Phase_I	Q8NG95	OR7G3_HUMAN			1	172	-			58					Q6IFJ6|Q96R99	Missense_Mutation	SNP	ENST00000305444.2	37	c.173C>T	CCDS32899.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414622	0.83449	.	.	ENSG00000170920	ENST00000305444	T	0.02032	4.49	4.02	4.02	0.46733	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41605	U	0.000847	T	0.22781	0.0550	H	0.98111	4.15	0.58432	D	0.999998	D	0.89917	1.0	D	0.78314	0.991	T	0.46762	-0.9168	10	0.87932	D	0	.	15.3092	0.74016	0.0:0.0:1.0:0.0	.	58	Q8NG95	OR7G3_HUMAN	L	58	ENSP00000302867:P58L	ENSP00000302867:P58L	P	-	2	0	OR7G3	9098454	1.000000	0.71417	0.993000	0.49108	0.835000	0.47333	8.104000	0.89551	2.255000	0.74692	0.558000	0.71614	CCC		0.557	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1			4	356	0	0	0	1	0	4	356				
DALRD3	55152	broad.mit.edu	37	3	49054074	49054074	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:49054074G>A	ENST00000341949.4	-	7	1040	c.1034C>T	c.(1033-1035)gCa>gTa	p.A345V	DALRD3_ENST00000395462.4_Missense_Mutation_p.A178V|DALRD3_ENST00000496568.1_5'Flank|DALRD3_ENST00000440857.1_Missense_Mutation_p.A178V|DALRD3_ENST00000313778.5_Missense_Mutation_p.A178V|DALRD3_ENST00000441576.2_Missense_Mutation_p.A345V	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	345					arginyl-tRNA aminoacylation (GO:0006420)		arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATGCTTCAGTGCTGAGGCCTT	0.587																																						ENST00000440857.1																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12						c.(532-534)gCa>gTa		DALR anticodon binding domain containing 3							94.0	86.0	89.0					3																	49054074		2203	4300	6503	SO:0001583	missense	55152				arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding	g.chr3:49054074G>A	BC014099	CCDS2783.1, CCDS33754.1, CCDS63632.1	3p21.31	2005-01-10			ENSG00000178149	ENSG00000178149			25536	protein-coding gene	gene with protein product						12477932	Standard	NM_001009996		Approved	FLJ10496	uc003cvk.2	Q5D0E6	OTTHUMG00000156748	ENST00000341949.4:c.1034C>T	3.37:g.49054074G>A	ENSP00000344989:p.Ala345Val		Somatic				DALRD3_ENST00000441576.2_Missense_Mutation_p.A345V|DALRD3_ENST00000395462.4_Missense_Mutation_p.A178V|DALRD3_ENST00000313778.5_Missense_Mutation_p.A178V|DALRD3_ENST00000341949.4_Missense_Mutation_p.A345V	p.A178V			WXS	Illumina GAIIx	Phase_I	Q5D0E6	DALD3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	8	1235	-			345					Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8	Missense_Mutation	SNP	ENST00000341949.4	37	c.533C>T	CCDS33754.1	.	.	.	.	.	.	.	.	.	.	G	7.891	0.732338	0.15507	.	.	ENSG00000178149	ENST00000441576;ENST00000341949;ENST00000395462;ENST00000440857;ENST00000313778	T;T;T;T;T	0.43688	1.01;1.0;0.99;0.94;0.99	4.81	3.85	0.44370	.	0.341776	0.30020	N	0.010605	T	0.27629	0.0679	L	0.27053	0.805	0.23542	N	0.997455	B;B;B;B	0.26845	0.129;0.161;0.129;0.002	B;B;B;B	0.27715	0.082;0.021;0.082;0.002	T	0.09930	-1.0652	10	0.25106	T	0.35	-4.8146	9.7989	0.40753	0.1098:0.0:0.8902:0.0	.	345;178;345;345	B7Z727;C9JJG6;Q5D0E6-2;Q5D0E6	.;.;.;DALD3_HUMAN	V	345;345;178;178;178	ENSP00000410623:A345V;ENSP00000344989:A345V;ENSP00000378846:A178V;ENSP00000403770:A178V;ENSP00000323265:A178V	ENSP00000323265:A178V	A	-	2	0	DALRD3	49029078	0.035000	0.19736	0.514000	0.27761	0.814000	0.46013	2.302000	0.43637	2.495000	0.84180	0.561000	0.74099	GCA		0.587	DALRD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345581.1	NM_018114		7	100	0	0	0	1	0	7	100				
ITCH	83737	broad.mit.edu	37	20	33000357	33000357	+	Silent	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:33000357G>T	ENST00000262650.6	+	5	385	c.249G>T	c.(247-249)gtG>gtT	p.V83V	ITCH_ENST00000374864.4_Silent_p.V83V|ITCH_ENST00000535650.1_5'UTR			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	83	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						ATTTTCGTGTGTGGAGTCACC	0.303																																						ENST00000374864.4																			0				NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						c.(247-249)gtG>gtT		itchy E3 ubiquitin protein ligase							84.0	78.0	80.0					20																	33000357		2202	4299	6501	SO:0001819	synonymous_variant	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33000357G>T	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.249G>T	20.37:g.33000357G>T			Somatic				ITCH_ENST00000535650.1_5'UTR|ITCH_ENST00000262650.6_Silent_p.V83V	p.V83V	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	WXS	Illumina GAIIx	Phase_I	Q96J02	ITCH_HUMAN			5	462	+			83			C2.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Silent	SNP	ENST00000262650.6	37	c.249G>T	CCDS58768.1																																																																																				0.303	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			8	59	1	0	9.05144e-12	1	1.19049e-11	8	59				
L1TD1	54596	broad.mit.edu	37	1	62675572	62675572	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:62675572A>T	ENST00000498273.1	+	4	1421	c.1126A>T	c.(1126-1128)Act>Tct	p.T376S	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	376	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						AAACTTAGAGACTCAAGAGGA	0.463																																						ENST00000498273.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(1126-1128)Act>Tct		LINE-1 type transposase domain containing 1							81.0	92.0	88.0					1																	62675572		2203	4300	6503	SO:0001583	missense	54596							g.chr1:62675572A>T	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.1126A>T	1.37:g.62675572A>T	ENSP00000419901:p.Thr376Ser		Somatic					p.T376S	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	WXS	Illumina GAIIx	Phase_I	Q5T7N2	LITD1_HUMAN			4	1421	+			376			Glu-rich.		Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	c.1126A>T	CCDS619.1	.	.	.	.	.	.	.	.	.	.	A	12.20	1.866503	0.32977	.	.	ENSG00000240563	ENST00000498273	T	0.11277	2.79	3.42	-2.07	0.07276	.	.	.	.	.	T	0.05960	0.0155	N	0.24115	0.695	0.09310	N	1	B	0.19073	0.033	B	0.12156	0.007	T	0.38286	-0.9668	9	0.62326	D	0.03	.	2.3467	0.04273	0.3972:0.0:0.2304:0.3724	.	376	Q5T7N2	LITD1_HUMAN	S	376	ENSP00000419901:T376S	ENSP00000419901:T376S	T	+	1	0	L1TD1	62448160	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-0.644000	0.05415	-0.393000	0.07739	0.379000	0.24179	ACT		0.463	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079		3	63	0	0	0	1	0	3	63				
ST3GAL2	6483	broad.mit.edu	37	16	70422317	70422317	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:70422317C>T	ENST00000393640.4	-	3	2773	c.666G>A	c.(664-666)ctG>ctA	p.L222L	ST3GAL2_ENST00000342907.2_Silent_p.L222L|RP11-529K1.4_ENST00000566960.1_RNA			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	222					amino sugar metabolic process (GO:0006040)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				ACAGAAGGTCCAGGACCTTGA	0.582																																						ENST00000393640.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11						c.(664-666)ctG>ctA		ST3 beta-galactoside alpha-2,3-sialyltransferase 2							151.0	136.0	141.0					16																	70422317		2198	4300	6498	SO:0001819	synonymous_variant	6483				amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr16:70422317C>T	U63090	CCDS10890.1	16q22.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000157350	ENSG00000157350	2.4.99.4	"""Sialyltransferases"""	10863	protein-coding gene	gene with protein product		607188	"""sialyltransferase 4B (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4B		9266697, 8920913	Standard	NM_006927		Approved	ST3GALII, ST3GalA.2	uc002eyx.2	Q16842	OTTHUMG00000137580	ENST00000393640.4:c.666G>A	16.37:g.70422317C>T			Somatic				RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Silent_p.L222L	p.L222L			WXS	Illumina GAIIx	Phase_I	Q16842	SIA4B_HUMAN			3	2773	-		Ovarian(137;0.0694)	222					O00654	Silent	SNP	ENST00000393640.4	37	c.666G>A	CCDS10890.1																																																																																				0.582	ST3GAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268968.1	NM_006927		4	300	0	0	0	1	0	4	300				
DNAH9	1770	broad.mit.edu	37	17	11726270	11726270	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:11726270G>A	ENST00000262442.4	+	48	9233	c.9165G>A	c.(9163-9165)ttG>ttA	p.L3055L	DNAH9_ENST00000454412.2_Silent_p.L3055L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3055	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGAGCTTGTTGCACAGGCACA	0.512																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(9163-9165)ttG>ttA		dynein, axonemal, heavy chain 9							91.0	79.0	83.0					17																	11726270		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11726270G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9165G>A	17.37:g.11726270G>A			Somatic				DNAH9_ENST00000454412.2_Silent_p.L3055L	p.L3055L	NM_001372.3	NP_001363.2	WXS	Illumina GAIIx	Phase_I	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	48	9233	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3055			Stalk (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.9165G>A	CCDS11160.1																																																																																				0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		4	107	0	0	0	1	0	4	107				
GPRC5B	51704	broad.mit.edu	37	16	19884089	19884089	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:19884089C>G	ENST00000300571.2	-	2	270	c.79G>C	c.(79-81)Gcc>Ccc	p.A27P	GPRC5B_ENST00000569847.1_Missense_Mutation_p.A27P|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A27P|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A53P|GPRC5B_ENST00000569479.1_Missense_Mutation_p.A27P	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	27					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TTTTCAGAGGCCACCGAGGTG	0.577																																						ENST00000300571.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(79-81)Gcc>Ccc		G protein-coupled receptor, family C, group 5, member B							53.0	53.0	53.0					16																	19884089		2197	4300	6497	SO:0001583	missense	51704							g.chr16:19884089C>G	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.79G>C	16.37:g.19884089C>G	ENSP00000300571:p.Ala27Pro		Somatic				GPRC5B_ENST00000535671.1_Missense_Mutation_p.A27P|GPRC5B_ENST00000569479.1_Missense_Mutation_p.A27P|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A53P|GPRC5B_ENST00000569847.1_Missense_Mutation_p.A27P	p.A27P	NM_016235.1	NP_057319.1	WXS	Illumina GAIIx	Phase_I	Q9NZH0	GPC5B_HUMAN			2	270	-			27					D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	37	c.79G>C	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975814	0.53720	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	T;T;T	0.27402	1.68;1.67;1.69	5.8	4.8	0.61643	.	0.294658	0.34178	N	0.004184	T	0.36248	0.0960	L	0.40543	1.245	0.36915	D	0.891091	D;P	0.57899	0.981;0.877	P;B	0.55161	0.77;0.296	T	0.16305	-1.0407	9	.	.	.	.	11.1641	0.48533	0.351:0.649:0.0:0.0	.	53;27	B7Z831;Q9NZH0	.;GPC5B_HUMAN	P	27;27;27;53	ENSP00000300571:A27P;ENSP00000442858:A27P;ENSP00000441775:A53P	.	A	-	1	0	GPRC5B	19791590	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	3.481000	0.53179	2.755000	0.94549	0.655000	0.94253	GCC		0.577	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			3	78	0	0	0	1	0	3	78				
SMC1B	27127	broad.mit.edu	37	22	45749891	45749891	+	Silent	SNP	G	G	A	rs71313004		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr22:45749891G>A	ENST00000357450.4	-	21	3239	c.3240C>T	c.(3238-3240)atC>atT	p.I1080I	SMC1B_ENST00000404354.3_Silent_p.I1080I	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	1080					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCTTCTTGTAGATTTGATCAA	0.398																																						ENST00000357450.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(3238-3240)atC>atT		structural maintenance of chromosomes 1B							136.0	122.0	127.0					22																	45749891		1861	4096	5957	SO:0001819	synonymous_variant	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45749891G>A	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.3240C>T	22.37:g.45749891G>A			Somatic				SMC1B_ENST00000404354.3_Silent_p.I1080I	p.I1080I	NM_148674.3	NP_683515.3	WXS	Illumina GAIIx	Phase_I	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	21	3239	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1080					A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Silent	SNP	ENST00000357450.4	37	c.3240C>T	CCDS43027.1																																																																																				0.398	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		14	146	0	0	0	1	0	14	146				
CCDC113	29070	broad.mit.edu	37	16	58301427	58301427	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:58301427G>T	ENST00000219299.4	+	7	907	c.828G>T	c.(826-828)aaG>aaT	p.K276N	CCDC113_ENST00000443128.2_Missense_Mutation_p.K222N	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	276						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						ATCTGGACAAGGAGATCTTGC	0.398																																						ENST00000219299.4																			0				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						c.(826-828)aaG>aaT		coiled-coil domain containing 113							101.0	96.0	97.0					16																	58301427		2198	4300	6498	SO:0001583	missense	29070					protein complex		g.chr16:58301427G>T	AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.828G>T	16.37:g.58301427G>T	ENSP00000219299:p.Lys276Asn		Somatic				CCDC113_ENST00000443128.2_Missense_Mutation_p.K222N	p.K276N	NM_014157.3	NP_054876.2	WXS	Illumina GAIIx	Phase_I	Q9H0I3	CC113_HUMAN			7	907	+			276					B2RAQ7|B4DR20|Q9NZX2	Missense_Mutation	SNP	ENST00000219299.4	37	c.828G>T	CCDS10795.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499697	0.64298	.	.	ENSG00000103021	ENST00000443128;ENST00000219299	T;T	0.35421	1.36;1.31	5.41	0.562	0.17290	.	0.327090	0.35555	N	0.003126	T	0.55497	0.1924	M	0.83953	2.67	0.39569	D	0.969257	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.54497	-0.8285	10	0.40728	T	0.16	-21.2825	7.9419	0.29963	0.4677:0.0:0.5323:0.0	.	222;276	B4DR20;Q9H0I3	.;CC113_HUMAN	N	222;276	ENSP00000402588:K222N;ENSP00000219299:K276N	ENSP00000219299:K276N	K	+	3	2	CCDC113	56858928	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	0.463000	0.21972	0.215000	0.20761	0.650000	0.86243	AAG		0.398	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257387.2	NM_014157		9	136	1	0	3.86212e-05	1	4.42752e-05	9	136				
TLR4	7099	broad.mit.edu	37	9	120470993	120470993	+	Silent	SNP	G	G	A	rs78293159		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:120470993G>A	ENST00000355622.6	+	2	347	c.246G>A	c.(244-246)gtG>gtA	p.V82V	RNU6-1082P_ENST00000364574.1_RNA|TLR4_ENST00000472304.1_Intron|TLR4_ENST00000394487.4_Silent_p.V42V	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	82					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	AACTGCAGGTGCTGGATTTAT	0.458																																						ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(244-246)gtG>gtA		toll-like receptor 4							128.0	131.0	130.0					9																	120470993		2203	4300	6503	SO:0001819	synonymous_variant	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120470993G>A	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.246G>A	9.37:g.120470993G>A			Somatic				TLR4_ENST00000472304.1_Intron|TLR4_ENST00000394487.4_Silent_p.V42V	p.V82V	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	WXS	Illumina GAIIx	Phase_I	O00206	TLR4_HUMAN			2	347	+			82					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	c.246G>A	CCDS6818.1																																																																																				0.458	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		55	361	0	0	0	1	0	55	361				
ETV7	51513	broad.mit.edu	37	6	36353326	36353326	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:36353326G>A	ENST00000340181.4	-	2	368	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L	ETV7_ENST00000339796.5_Silent_p.L43L|RP1-50J22.4_ENST00000411643.1_RNA|ETV7_ENST00000538992.1_Intron|ETV7_ENST00000373737.4_Silent_p.L43L|ETV7_ENST00000373738.1_Silent_p.L43L	NM_001207037.1|NM_001207040.1|NM_016135.3	NP_001193966.1|NP_001193969.1|NP_057219.1	Q9Y603	ETV7_HUMAN	ets variant 7	43	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						CTTCCTGGCAGCTTGCAGATC	0.483																																						ENST00000373738.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						c.(127-129)Ctg>Ttg		ets variant 7							98.0	101.0	100.0					6																	36353326		2203	4300	6503	SO:0001819	synonymous_variant	51513				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:36353326G>A	AF116508	CCDS4819.1, CCDS56422.1, CCDS56423.1, CCDS56424.1, CCDS56425.1, CCDS75440.1, CCDS75441.1	6p21	2008-09-12	2008-09-12		ENSG00000010030	ENSG00000010030			18160	protein-coding gene	gene with protein product	"""TEL2 oncogene"""	605255	"""ets variant gene 7 (TEL2 oncogene)"""			10828014, 11108721	Standard	NM_016135		Approved	TEL2, TEL-2	uc003omb.3	Q9Y603	OTTHUMG00000014594	ENST00000340181.4:c.127C>T	6.37:g.36353326G>A			Somatic				ETV7_ENST00000340181.4_Silent_p.L43L|ETV7_ENST00000538992.1_Intron|ETV7_ENST00000373737.4_Silent_p.L43L|ETV7_ENST00000339796.5_Silent_p.L43L	p.L43L	NM_001207036.1	NP_001193965.1	WXS	Illumina GAIIx	Phase_I	Q9Y603	ETV7_HUMAN			2	972	-			43			PNT.		B3KVC2|B4DVB6|B4E1G4|Q5R3L3|Q5R3L4|Q9NZ65|Q9NZ66|Q9NZ68|Q9NZR8|Q9UNJ7|Q9Y5K4|Q9Y604	Silent	SNP	ENST00000340181.4	37	c.127C>T	CCDS4819.1																																																																																				0.483	ETV7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040341.1	NM_016135		4	382	0	0	0	1	0	4	382				
SETX	23064	broad.mit.edu	37	9	135153480	135153480	+	Nonsense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:135153480A>T	ENST00000224140.5	-	21	7001	c.6819T>A	c.(6817-6819)taT>taA	p.Y2273*	SETX_ENST00000372169.2_Nonsense_Mutation_p.Y2273*|SETX_ENST00000477049.1_5'Flank|SETX_ENST00000393220.1_Nonsense_Mutation_p.Y2273*	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2273					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AGTTTCTGTTATAAACATAAT	0.368																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(6817-6819)taT>taA		senataxin							101.0	100.0	100.0					9																	135153480		2203	4300	6503	SO:0001587	stop_gained	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135153480A>T	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.6819T>A	9.37:g.135153480A>T	ENSP00000224140:p.Tyr2273*		Somatic				SETX_ENST00000393220.1_Nonsense_Mutation_p.Y2273*|SETX_ENST00000224140.5_Nonsense_Mutation_p.Y2273*	p.Y2273*			WXS	Illumina GAIIx	Phase_I	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	21	7001	-		Myeloproliferative disorder(178;0.204)	2273					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Nonsense_Mutation	SNP	ENST00000224140.5	37	c.6819T>A	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	A	46	12.858584	0.99701	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	.	.	.	5.77	-3.89	0.04193	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2654	0.73657	0.4603:0.0:0.5397:0.0	.	.	.	.	X	2273;515;2273;2273	.	ENSP00000224140:Y2273X	Y	-	3	2	SETX	134143301	0.934000	0.31675	0.001000	0.08648	0.184000	0.23303	-0.034000	0.12225	-1.503000	0.01812	-1.964000	0.00472	TAT		0.368	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		5	145	0	0	0	1	0	5	145				
ARAP2	116984	broad.mit.edu	37	4	36069652	36069652	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:36069652A>G	ENST00000303965.4	-	33	5481	c.4992T>C	c.(4990-4992)aaT>aaC	p.N1664N		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1664					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TAGCTTTGCTATTCCTGTCCT	0.448																																						ENST00000303965.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						c.(4990-4992)aaT>aaC		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2							155.0	153.0	154.0					4																	36069652		2203	4300	6503	SO:0001819	synonymous_variant	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36069652A>G	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.4992T>C	4.37:g.36069652A>G			Somatic					p.N1664N	NM_015230.3	NP_056045.2	WXS	Illumina GAIIx	Phase_I	Q8WZ64	ARAP2_HUMAN			33	5481	-			1664					Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Silent	SNP	ENST00000303965.4	37	c.4992T>C	CCDS3441.1																																																																																				0.448	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		8	372	0	0	0	1	0	8	372				
AP5M1	55745	broad.mit.edu	37	14	57741171	57741171	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:57741171C>T	ENST00000261558.3	+	2	690	c.284C>T	c.(283-285)cCa>cTa	p.P95L	AP5M1_ENST00000431972.2_Missense_Mutation_p.P109L	NM_018229.3	NP_060699.3	Q9H0R1	AP5M1_HUMAN	adaptor-related protein complex 5, mu 1 subunit	95					endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytosol (GO:0005829)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)											GAACTCTGGCCAGTTGTTGCT	0.423																																						ENST00000261558.3																			0											c.(283-285)cCa>cTa		adaptor-related protein complex 5, mu 1 subunit							92.0	85.0	87.0					14																	57741171		2203	4300	6503	SO:0001583	missense	55745				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex		g.chr14:57741171C>T	AF094583	CCDS9729.1	14q22.2	2012-03-20	2012-03-20	2012-03-20	ENSG00000053770	ENSG00000053770			20192	protein-coding gene	gene with protein product	"""Mu-2 related death-inducing gene"""	614368	"""chromosome 14 open reading frame 108"", ""MU-2/AP1M2 domain containing, death-inducing"""	C14orf108, MUDENG		18395520	Standard	NM_018229		Approved	FLJ10813, MuD, mu5	uc001xcv.3	Q9H0R1	OTTHUMG00000140318	ENST00000261558.3:c.284C>T	14.37:g.57741171C>T	ENSP00000261558:p.Pro95Leu		Somatic				AP5M1_ENST00000431972.2_Missense_Mutation_p.P109L	p.P95L	NM_018229.3	NP_060699.3	WXS	Illumina GAIIx	Phase_I	Q9H0R1	MUDEN_HUMAN			2	690	+			95					O95354|Q6ZMD7|Q96DX3|Q9NVC5	Missense_Mutation	SNP	ENST00000261558.3	37	c.284C>T	CCDS9729.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995790	0.93167	.	.	ENSG00000053770	ENST00000261558;ENST00000431972	T;T	0.74106	-0.68;-0.81	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.86957	0.6058	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87276	0.2289	10	0.87932	D	0	.	20.14	0.98056	0.0:1.0:0.0:0.0	.	95;95	Q9H0R1;Q9H0R1-2	MUDEN_HUMAN;.	L	95;109	ENSP00000261558:P95L;ENSP00000390531:P109L	ENSP00000261558:P95L	P	+	2	0	MUDENG	56810924	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.414000	0.80117	2.837000	0.97791	0.591000	0.81541	CCA		0.423	AP5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276922.1	NM_018229		3	74	0	0	0	1	0	3	74				
TRMT12	55039	broad.mit.edu	37	8	125463612	125463612	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:125463612C>G	ENST00000328599.3	+	1	565	c.444C>G	c.(442-444)ttC>ttG	p.F148L	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	148					tRNA processing (GO:0008033)		transferase activity (GO:0016740)			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AAGACTGTTTCCAAGCCAAGC	0.567																																						ENST00000328599.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(442-444)ttC>ttG		tRNA methyltransferase 12 homolog (S. cerevisiae)							77.0	78.0	77.0					8																	125463612		2203	4300	6503	SO:0001583	missense	55039				tRNA processing		methyltransferase activity	g.chr8:125463612C>G	AF313041	CCDS6349.1	8q24.13	2011-05-09	2006-11-16		ENSG00000183665	ENSG00000183665			26091	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 2"""	611244	"""tRNA methyltranferase 12 homolog (S. cerevisiae)"""			16005430, 17150819	Standard	NM_017956		Approved	FLJ20772, Trm12, TYW2	uc003yra.4	Q53H54	OTTHUMG00000165022	ENST00000328599.3:c.444C>G	8.37:g.125463612C>G	ENSP00000329858:p.Phe148Leu		Somatic				TRMT12_ENST00000521443.1_Intron	p.F148L	NM_017956.3	NP_060426.2	WXS	Illumina GAIIx	Phase_I	Q53H54	TYW2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		1	565	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		148					Q6PKB9|Q96F21|Q9NWK6	Missense_Mutation	SNP	ENST00000328599.3	37	c.444C>G	CCDS6349.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143626	0.57044	.	.	ENSG00000183665	ENST00000328599	T	0.22134	1.97	4.55	2.59	0.31030	.	0.000000	0.85682	D	0.000000	T	0.27697	0.0681	L	0.49256	1.55	0.52099	D	0.999948	P	0.52061	0.95	P	0.61328	0.887	T	0.30357	-0.9981	10	0.02654	T	1	-14.9229	9.0902	0.36605	0.0:0.7984:0.0:0.2016	.	148	Q53H54	TYW2_HUMAN	L	148	ENSP00000329858:F148L	ENSP00000329858:F148L	F	+	3	2	TRMT12	125532793	0.999000	0.42202	1.000000	0.80357	0.788000	0.44548	1.637000	0.37155	0.515000	0.28320	-0.367000	0.07326	TTC		0.567	TRMT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381465.1	NM_017956		6	72	0	0	0	1	0	6	72				
FGD4	121512	broad.mit.edu	37	12	32777354	32777354	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:32777354A>T	ENST00000427716.2	+	12	1935		c.e12-1		FGD4_ENST00000381025.3_Splice_Site|FGD4_ENST00000531134.1_Splice_Site|FGD4_ENST00000266482.3_Splice_Site|FGD4_ENST00000525053.1_Splice_Site|FGD4_ENST00000546442.1_Splice_Site|FGD4_ENST00000534526.2_Splice_Site	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4						actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GTTTTATTTTAGTTCTGCGCA	0.333																																						ENST00000427716.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27						c.e12-1		FYVE, RhoGEF and PH domain containing 4							63.0	66.0	65.0					12																	32777354		2203	4300	6503	SO:0001630	splice_region_variant	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32777354A>T	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.1512-1A>T	12.37:g.32777354A>T			Somatic				FGD4_ENST00000381025.3_Splice_Site|FGD4_ENST00000266482.3_Splice_Site|FGD4_ENST00000546442.1_Splice_Site|FGD4_ENST00000531134.1_Splice_Site|FGD4_ENST00000525053.1_Splice_Site|FGD4_ENST00000534526.2_Splice_Site		NM_139241.2	NP_640334.2	WXS	Illumina GAIIx	Phase_I	Q96M96	FGD4_HUMAN			12	1935	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)							Q6ULS2|Q8TCP6	Splice_Site	SNP	ENST00000427716.2	37		CCDS8727.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.363354	0.82353	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053;ENST00000381025	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.708	0.77602	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FGD4	32668621	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.845000	0.86875	2.163000	0.67991	0.533000	0.62120	.		0.333	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241	Intron	4	82	0	0	0	1	0	4	82				
PCDH12	51294	broad.mit.edu	37	5	141336357	141336357	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:141336357C>T	ENST00000231484.3	-	1	2270	c.1060G>A	c.(1060-1062)Gtc>Atc	p.V354I	PCDH12_ENST00000512221.1_5'Flank	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	354					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)			GCCCATGTGACGTGGATGCTT	0.507																																						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.(1060-1062)Gtc>Atc		protocadherin 12							134.0	119.0	124.0					5																	141336357		2203	4300	6503	SO:0001583	missense	51294				neuron recognition	integral to plasma membrane	calcium ion binding	g.chr5:141336357C>T	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.1060G>A	5.37:g.141336357C>T	ENSP00000231484:p.Val354Ile		Somatic					p.V354I	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	2270	-		all_hematologic(541;0.0999)	354					Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Missense_Mutation	SNP	ENST00000231484.3	37	c.1060G>A	CCDS4269.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.396490	0.01175	.	.	ENSG00000113555	ENST00000231484	T	0.61040	0.14	5.32	-0.362	0.12560	Cadherin-like (1);	0.624229	0.17547	N	0.170310	T	0.22820	0.0551	N	0.02345	-0.59	0.27666	N	0.94692	B	0.06786	0.001	B	0.01281	0.0	T	0.32587	-0.9901	10	0.02654	T	1	.	8.8161	0.34996	0.0:0.418:0.0:0.582	.	354	Q9NPG4	PCD12_HUMAN	I	354	ENSP00000231484:V354I	ENSP00000231484:V354I	V	-	1	0	PCDH12	141316541	0.554000	0.26522	0.938000	0.37757	0.656000	0.38851	0.221000	0.17680	-0.179000	0.10654	-0.345000	0.07892	GTC		0.507	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251858.1	NM_016580		5	350	0	0	0	1	0	5	350				
DHX30	22907	broad.mit.edu	37	3	47887919	47887919	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:47887919G>T	ENST00000445061.1	+	11	1764	c.1357G>T	c.(1357-1359)Gtg>Ttg	p.V453L	DHX30_ENST00000446256.2_Missense_Mutation_p.V414L|DHX30_ENST00000457607.1_Missense_Mutation_p.V481L|DHX30_ENST00000348968.4_Missense_Mutation_p.V425L	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	453	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GCACCCGGTGGTGGTCATCTC	0.672																																						ENST00000446256.2																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37						c.(1240-1242)Gtg>Ttg		DEAH (Asp-Glu-Ala-His) box helicase 30							66.0	68.0	68.0					3																	47887919		2203	4300	6503	SO:0001583	missense	22907					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr3:47887919G>T	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.1357G>T	3.37:g.47887919G>T	ENSP00000405620:p.Val453Leu		Somatic				DHX30_ENST00000457607.1_Missense_Mutation_p.V481L|DHX30_ENST00000348968.4_Missense_Mutation_p.V425L|DHX30_ENST00000445061.1_Missense_Mutation_p.V453L	p.V414L	NM_014966.3	NP_055781.2	WXS	Illumina GAIIx	Phase_I	Q7L2E3	DHX30_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	12	1812	+			453					A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	c.1240G>T	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.692578	0.48202	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03152	4.03;4.03;4.03;4.03	5.23	4.34	0.51931	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.05273	0.0140	L	0.39326	1.205	0.58432	D	0.999992	P;B	0.45126	0.851;0.278	B;B	0.43838	0.433;0.178	T	0.53954	-0.8365	10	0.21540	T	0.41	.	14.8763	0.70496	0.0:0.1441:0.8559:0.0	.	453;414	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	L	414;453;425;481	ENSP00000392601:V414L;ENSP00000405620:V453L;ENSP00000343442:V425L;ENSP00000394682:V481L	ENSP00000343442:V425L	V	+	1	0	DHX30	47862923	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.437000	0.66544	1.170000	0.42753	0.655000	0.94253	GTG		0.672	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257495.2	NM_138615		4	128	1	0	0.184627	1	0.188705	4	128				
PLXNB3	5365	broad.mit.edu	37	X	153036318	153036318	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:153036318C>A	ENST00000361971.5	+	11	2230	c.2116C>A	c.(2116-2118)Cgg>Agg	p.R706R	PLXNB3_ENST00000538966.1_Silent_p.R729R|PLXNB3_ENST00000538282.1_Silent_p.R316R|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538776.1_Silent_p.R359R	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	706					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTACGCGTGCGGAACCTTCA	0.642																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(2185-2187)Cgg>Agg		plexin B3							80.0	72.0	75.0					X																	153036318		2201	4299	6500	SO:0001819	synonymous_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153036318C>A	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.2116C>A	X.37:g.153036318C>A			Somatic				PLXNB3_ENST00000538776.1_Silent_p.R359R|PLXNB3_ENST00000538282.1_Silent_p.R316R|PLXNB3_ENST00000361971.5_Silent_p.R706R|PLXNB3_ENST00000538543.1_Intron	p.R729R	NM_001163257.1	NP_001156729.1	WXS	Illumina GAIIx	Phase_I	Q9ULL4	PLXB3_HUMAN			12	2456	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		706					B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	c.2185C>A	CCDS14729.1																																																																																				0.642	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			4	7	1	0	0.184627	1	0.188705	4	7				
C14orf93	60686	broad.mit.edu	37	14	23468012	23468012	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:23468012C>T	ENST00000299088.6	-	2	650	c.221G>A	c.(220-222)gGt>gAt	p.G74D	RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000397377.1_Intron|C14orf93_ENST00000557513.1_5'Flank|C14orf93_ENST00000397382.4_Missense_Mutation_p.G74D|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000406429.2_Missense_Mutation_p.G74D|C14orf93_ENST00000397379.3_Missense_Mutation_p.G74D|C14orf93_ENST00000341470.4_Missense_Mutation_p.G74D	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	74						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		TTCAGCCAAACCCACTGCCTT	0.557																																						ENST00000299088.6																			0				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(220-222)gGt>gAt		chromosome 14 open reading frame 93							54.0	48.0	50.0					14																	23468012		2203	4300	6503	SO:0001583	missense	60686					extracellular region		g.chr14:23468012C>T	AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.221G>A	14.37:g.23468012C>T	ENSP00000299088:p.Gly74Asp		Somatic				C14orf93_ENST00000397379.3_Missense_Mutation_p.G74D|C14orf93_ENST00000341470.4_Missense_Mutation_p.G74D|C14orf93_ENST00000397382.4_Missense_Mutation_p.G74D|C14orf93_ENST00000397377.1_Intron|C14orf93_ENST00000406429.2_Missense_Mutation_p.G74D|RP11-298I3.4_ENST00000556503.1_RNA	p.G74D	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	WXS	Illumina GAIIx	Phase_I	Q9H972	CN093_HUMAN		GBM - Glioblastoma multiforme(265;0.0127)	2	650	-	all_cancers(95;3.3e-05)		74					B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Missense_Mutation	SNP	ENST00000299088.6	37	c.221G>A	CCDS9583.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775112	0.90108	.	.	ENSG00000100802	ENST00000299088;ENST00000341470;ENST00000397379;ENST00000397382;ENST00000406429;ENST00000397380;ENST00000553675;ENST00000553931;ENST00000555575;ENST00000553958;ENST00000555098	T;T;T;T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000001	T	0.57388	0.2050	L	0.29908	0.895	0.47949	D	0.999552	D;D	0.63046	0.992;0.992	P;P	0.62740	0.906;0.906	T	0.59473	-0.7448	10	0.72032	D	0.01	-30.008	18.6051	0.91263	0.0:1.0:0.0:0.0	.	74;74	Q9H972;Q9H972-2	CN093_HUMAN;.	D	74	ENSP00000299088:G74D;ENSP00000341353:G74D;ENSP00000380535:G74D;ENSP00000380538:G74D;ENSP00000384768:G74D;ENSP00000380536:G74D;ENSP00000450771:G74D;ENSP00000452036:G74D;ENSP00000451111:G74D;ENSP00000451456:G74D;ENSP00000450866:G74D	ENSP00000299088:G74D	G	-	2	0	C14orf93	22537852	0.998000	0.40836	0.982000	0.44146	0.966000	0.64601	4.527000	0.60573	2.701000	0.92244	0.561000	0.74099	GGT		0.557	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071688.5	NM_021944		157	57	0	0	0	1	0	157	57				
ABCC1	4363	broad.mit.edu	37	16	16173246	16173246	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:16173246G>T	ENST00000399410.3	+	16	2201	c.2026G>T	c.(2026-2028)Gtg>Ttg	p.V676L	ABCC1_ENST00000345148.5_Missense_Mutation_p.V676L|ABCC1_ENST00000351154.5_Missense_Mutation_p.V676L|ABCC1_ENST00000346370.5_Missense_Mutation_p.V676L|ABCC1_ENST00000399408.2_Missense_Mutation_p.V676L|ABCC1_ENST00000349029.5_Missense_Mutation_p.V676L	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	676	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)	TTTGGTGGCCGTGGTGGGCCA	0.602																																						ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(2026-2028)Gtg>Ttg		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						80.0	83.0	82.0					16																	16173246		2093	4222	6315	SO:0001583	missense	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.chr16:16173246G>T	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.2026G>T	16.37:g.16173246G>T	ENSP00000382342:p.Val676Leu		Somatic				ABCC1_ENST00000349029.5_Missense_Mutation_p.V676L|ABCC1_ENST00000346370.5_Missense_Mutation_p.V676L|ABCC1_ENST00000399410.3_Missense_Mutation_p.V676L|ABCC1_ENST00000351154.5_Missense_Mutation_p.V676L|ABCC1_ENST00000345148.5_Missense_Mutation_p.V676L	p.V676L			WXS	Illumina GAIIx	Phase_I	P33527	MRP1_HUMAN			16	2201	+			676			ABC transporter 1.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.2026G>T	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	G	19.90	3.913024	0.72983	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82;-2.82	4.77	4.77	0.60923	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.92648	0.7664	L	0.37850	1.14	0.54753	D	0.999989	D;D;D;D;P;D	0.89917	0.999;1.0;0.997;0.998;0.927;1.0	D;D;D;D;P;D	0.87578	0.995;0.998;0.995;0.972;0.595;0.997	D	0.92746	0.6212	10	0.45353	T	0.12	-24.7728	16.7985	0.85608	0.0:0.0:1.0:0.0	.	676;676;676;676;676;676	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	L	676;676;676;676;676;676;350	ENSP00000382342:V676L;ENSP00000382340:V676L;ENSP00000263019:V676L;ENSP00000263017:V676L;ENSP00000263014:V676L;ENSP00000263016:V676L	ENSP00000263014:V676L	V	+	1	0	ABCC1	16080747	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.689000	0.61723	2.207000	0.71202	0.563000	0.77884	GTG		0.602	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		17	572	1	0	9.95505e-16	1	1.33697e-15	17	572				
WHSC1	7468	broad.mit.edu	37	4	1902443	1902443	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:1902443T>A	ENST00000382895.3	+	4	493	c.62T>A	c.(61-63)aTg>aAg	p.M21K	WHSC1_ENST00000382892.2_Missense_Mutation_p.M21K|WHSC1_ENST00000508803.1_Missense_Mutation_p.M21K|WHSC1_ENST00000398261.1_Missense_Mutation_p.M21K|WHSC1_ENST00000436793.1_Missense_Mutation_p.M21K|WHSC1_ENST00000503128.1_Missense_Mutation_p.M21K|WHSC1_ENST00000420906.2_Missense_Mutation_p.M21K|WHSC1_ENST00000514045.1_Missense_Mutation_p.M21K|WHSC1_ENST00000382891.5_Missense_Mutation_p.M21K	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	21					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGCATAAAGATGAAGCAGGCA	0.507			T	IGH@	MM																																	ENST00000503128.1				Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48						c.(61-63)aTg>aAg		Wolf-Hirschhorn syndrome candidate 1							123.0	135.0	131.0					4																	1902443		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1902443T>A	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.62T>A	4.37:g.1902443T>A	ENSP00000372351:p.Met21Lys		Somatic				WHSC1_ENST00000382891.5_Missense_Mutation_p.M21K|WHSC1_ENST00000436793.1_Missense_Mutation_p.M21K|WHSC1_ENST00000382892.2_Missense_Mutation_p.M21K|WHSC1_ENST00000382895.3_Missense_Mutation_p.M21K|WHSC1_ENST00000508803.1_Missense_Mutation_p.M21K|WHSC1_ENST00000420906.2_Missense_Mutation_p.M21K|WHSC1_ENST00000514045.1_Missense_Mutation_p.M21K|WHSC1_ENST00000398261.1_Missense_Mutation_p.M21K	p.M21K			WXS	Illumina GAIIx	Phase_I	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	2	269	+		all_epithelial(65;1.34e-05)	21					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.62T>A	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.347324	0.82022	.	.	ENSG00000109685	ENST00000508803;ENST00000507820;ENST00000514045;ENST00000515806;ENST00000382891;ENST00000382892;ENST00000436793;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	D;T;T;D;D;T;T;D;T;T;T	0.95980	-3.87;0.38;0.31;-3.87;-3.87;0.37;0.38;-3.87;0.34;0.58;0.34	5.59	5.59	0.84812	.	0.000000	0.64402	D	0.000001	D	0.96454	0.8843	L	0.44542	1.39	0.48901	D	0.999728	D;D;D;D;D	0.64830	0.994;0.984;0.99;0.994;0.992	D;D;D;D;D	0.73708	0.981;0.964;0.961;0.981;0.974	D	0.97134	0.9820	10	0.72032	D	0.01	.	15.7616	0.78087	0.0:0.0:0.0:1.0	.	21;21;21;21;21	O96028-3;O96028-7;O96028;O96028-5;O96028-6	.;.;NSD2_HUMAN;.;.	K	21	ENSP00000423972:M21K;ENSP00000421681:M21K;ENSP00000427434:M21K;ENSP00000372347:M21K;ENSP00000372348:M21K;ENSP00000416725:M21K;ENSP00000399251:M21K;ENSP00000372351:M21K;ENSP00000425761:M21K;ENSP00000422878:M21K;ENSP00000381311:M21K	ENSP00000308780:M21K	M	+	2	0	WHSC1	1872241	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	6.098000	0.71458	2.118000	0.64928	0.533000	0.62120	ATG		0.507	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		6	176	0	0	0	1	0	6	176				
ADCY3	109	broad.mit.edu	37	2	25050925	25050925	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:25050925G>T	ENST00000260600.5	-	13	3129	c.2278C>A	c.(2278-2280)Ctg>Atg	p.L760M	ADCY3_ENST00000405392.1_Intron|RP11-443B20.1_ENST00000606114.1_RNA|ADCY3_ENST00000450524.1_5'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	760					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					ATGAGGGACAGCACGGCCACA	0.592											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(2278-2280)Ctg>Atg		adenylate cyclase 3							115.0	88.0	97.0					2																	25050925		2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25050925G>T	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2278C>A	2.37:g.25050925G>T	ENSP00000260600:p.Leu760Met		Somatic	OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	776	ADCY3_ENST00000405392.1_Intron|ADCY3_ENST00000450524.1_5'UTR	p.L760M	NM_004036.3	NP_004027.2	WXS	Illumina GAIIx	Phase_I	O60266	ADCY3_HUMAN			13	3129	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		760					B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.2278C>A	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036663	0.75617	.	.	ENSG00000138031	ENST00000260600;ENST00000415879;ENST00000455323;ENST00000450524	T;T;T	0.74842	-0.88;-0.88;-0.88	5.24	3.42	0.39159	.	0.074556	0.56097	D	0.000031	T	0.77942	0.4206	M	0.73217	2.22	0.80722	D	1	D;D	0.61080	0.989;0.989	P;P	0.51324	0.666;0.666	T	0.80101	-0.1523	10	0.56958	D	0.05	.	11.4928	0.50391	0.1484:0.0:0.8516:0.0	.	760;760	B7ZLX9;O60266	.;ADCY3_HUMAN	M	760;735;99;103	ENSP00000260600:L760M;ENSP00000402008:L99M;ENSP00000410972:L103M	ENSP00000260600:L760M	L	-	1	2	ADCY3	24904429	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	3.184000	0.50926	1.445000	0.47624	0.561000	0.74099	CTG		0.592	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			15	77	1	0	5.3912e-06	1	6.45676e-06	15	77				
MYO1E	4643	broad.mit.edu	37	15	59519787	59519787	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:59519787T>C	ENST00000288235.4	-	7	912	c.513A>G	c.(511-513)ggA>ggG	p.G171G	MYO1E_ENST00000558814.1_5'UTR	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	171	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CAAAGTATTTTCCCTGCAAGA	0.408																																						ENST00000288235.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33						c.(511-513)ggA>ggG		myosin IE							95.0	94.0	95.0					15																	59519787		2190	4290	6480	SO:0001819	synonymous_variant	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59519787T>C	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.513A>G	15.37:g.59519787T>C			Somatic				MYO1E_ENST00000558814.1_5'UTR	p.G171G	NM_004998.3	NP_004989.2	WXS	Illumina GAIIx	Phase_I	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	7	912	-			171			Myosin head-like.		Q14778	Silent	SNP	ENST00000288235.4	37	c.513A>G	CCDS32254.1																																																																																				0.408	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		8	766	0	0	0	1	0	8	766				
SPOCD1	90853	broad.mit.edu	37	1	32262283	32262283	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:32262283G>A	ENST00000360482.2	-	10	2308	c.2179C>T	c.(2179-2181)Ccg>Tcg	p.P727S	SPOCD1_ENST00000257100.3_Missense_Mutation_p.P220S|SPOCD1_ENST00000533231.1_Missense_Mutation_p.P727S|SPOCD1_ENST00000373648.2_3'UTR	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	727	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AGTCTGCACGGCTCCTTCTGT	0.562																																						ENST00000360482.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37						c.(2179-2181)Ccg>Tcg		SPOC domain containing 1							151.0	142.0	145.0					1																	32262283		2203	4300	6503	SO:0001583	missense	90853				transcription, DNA-dependent			g.chr1:32262283G>A	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.2179C>T	1.37:g.32262283G>A	ENSP00000353670:p.Pro727Ser		Somatic				SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.P220S|SPOCD1_ENST00000533231.1_Missense_Mutation_p.P727S	p.P727S	NM_144569.4	NP_653170.3	WXS	Illumina GAIIx	Phase_I	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	10	2308	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	727			TFIIS central.		Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	c.2179C>T	CCDS347.1	.	.	.	.	.	.	.	.	.	.	G	7.063	0.566848	0.13560	.	.	ENSG00000134668	ENST00000257100;ENST00000360482;ENST00000294514;ENST00000452755;ENST00000533231	T;T;T;T	0.41758	0.99;1.98;1.0;1.98	4.34	3.34	0.38264	Transcription elongation factor S-II, central domain (1);	.	.	.	.	T	0.40015	0.1100	L	0.51422	1.61	0.80722	D	1	P;D;P;D	0.59767	0.879;0.986;0.93;0.976	B;P;B;P	0.51516	0.301;0.672;0.304;0.472	T	0.21177	-1.0253	9	0.08381	T	0.77	-1.2455	9.2428	0.37506	0.0:0.2909:0.7091:0.0	.	71;727;164;727	Q6ZMY3-4;Q6ZMY3-2;E9PPM7;Q6ZMY3	.;.;.;SPOC1_HUMAN	S	220;727;125;164;727	ENSP00000257100:P220S;ENSP00000353670:P727S;ENSP00000399778:P164S;ENSP00000435851:P727S	ENSP00000257100:P220S	P	-	1	0	SPOCD1	32034870	0.197000	0.23362	0.895000	0.35142	0.874000	0.50279	0.932000	0.28884	2.140000	0.66376	0.462000	0.41574	CCG		0.562	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		29	46	0	0	0	1	0	29	46				
C1orf50	79078	broad.mit.edu	37	1	43240464	43240464	+	Silent	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:43240464G>T	ENST00000372525.5	+	4	382	c.339G>T	c.(337-339)gtG>gtT	p.V113V	C1orf50_ENST00000536543.1_5'UTR|RP5-994D16.9_ENST00000447572.1_RNA|C1orf50_ENST00000468913.2_3'UTR	NM_024097.3	NP_077002.2	Q9BV19	CA050_HUMAN	chromosome 1 open reading frame 50	113										large_intestine(2)|ovary(1)|pancreas(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTAATATAGTGAAAAAACCTG	0.378																																						ENST00000372525.5																			0				large_intestine(2)|ovary(1)|pancreas(1)	4						c.(337-339)gtG>gtT		chromosome 1 open reading frame 50							129.0	129.0	129.0					1																	43240464		2203	4300	6503	SO:0001819	synonymous_variant	79078							g.chr1:43240464G>T	BC001711	CCDS473.1	1p34.2	2012-06-25			ENSG00000164008	ENSG00000164008			28795	protein-coding gene	gene with protein product						12477932	Standard	NM_024097		Approved	MGC955	uc001cia.4	Q9BV19	OTTHUMG00000007568	ENST00000372525.5:c.339G>T	1.37:g.43240464G>T			Somatic				C1orf50_ENST00000536543.1_5'UTR|C1orf50_ENST00000468913.2_3'UTR	p.V113V	NM_024097.3	NP_077002.2	WXS	Illumina GAIIx	Phase_I	Q9BV19	CA050_HUMAN			4	382	+	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	113						Silent	SNP	ENST00000372525.5	37	c.339G>T	CCDS473.1																																																																																				0.378	C1orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020001.2	NM_024097		4	148	1	0	2.56e-06	1	3.07321e-06	4	148				
MTMR11	10903	broad.mit.edu	37	1	149907008	149907008	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:149907008G>A	ENST00000439741.2	-	5	589	c.339C>T	c.(337-339)tcC>tcT	p.S113S	MTMR11_ENST00000361405.6_Silent_p.S113S|MTMR11_ENST00000369140.3_Silent_p.S41S|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_Silent_p.S85S	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	113							phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GCTGGACTCGGGACAAGCCGC	0.547																																						ENST00000439741.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34						c.(337-339)tcC>tcT		myotubularin related protein 11							58.0	64.0	62.0					1																	149907008		2203	4300	6503	SO:0001819	synonymous_variant	10903						phosphatase activity	g.chr1:149907008G>A	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.339C>T	1.37:g.149907008G>A			Somatic				MTMR11_ENST00000406732.3_Silent_p.S85S|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Silent_p.S113S|MTMR11_ENST00000369140.3_Silent_p.S41S	p.S113S	NM_001145862.1	NP_001139334.1	WXS	Illumina GAIIx	Phase_I	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		5	589	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		113					B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Silent	SNP	ENST00000439741.2	37	c.339C>T	CCDS53360.1																																																																																				0.547	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		4	117	0	0	0	1	0	4	117				
SYNE1	23345	broad.mit.edu	37	6	152708494	152708494	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:152708494G>T	ENST00000367255.5	-	54	8801	c.8200C>A	c.(8200-8202)Caa>Aaa	p.Q2734K	SYNE1_ENST00000423061.1_Missense_Mutation_p.Q2741K|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q2741K|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q2773K|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q2734K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2734					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCATTCCATTGGCTAATCACA	0.368										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(8200-8202)Caa>Aaa		spectrin repeat containing, nuclear envelope 1							141.0	130.0	134.0					6																	152708494		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152708494G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8200C>A	6.37:g.152708494G>T	ENSP00000356224:p.Gln2734Lys	HNSCC(10;0.0054)	Somatic				SYNE1_ENST00000448038.1_Missense_Mutation_p.Q2741K|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q2734K|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q2741K|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q2773K	p.Q2734K	NM_182961.3	NP_892006.3	WXS	Illumina GAIIx	Phase_I	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	54	8801	-		Ovarian(120;0.0955)	2734					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.8200C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	14.43	2.531759	0.45073	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	5.85	4.97	0.65823	.	0.206032	0.33813	N	0.004540	T	0.20780	0.0500	M	0.69823	2.125	0.80722	D	1	B;B;B;B	0.18461	0.001;0.009;0.009;0.028	B;B;B;B	0.21546	0.005;0.009;0.009;0.035	T	0.24154	-1.0168	10	0.08179	T	0.78	.	16.1027	0.81194	0.0:0.0:0.8585:0.1415	.	2717;2734;2734;2741	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	2734;2741;2734;2741;2773	ENSP00000356224:Q2734K;ENSP00000396024:Q2741K;ENSP00000265368:Q2734K;ENSP00000390975:Q2741K;ENSP00000341887:Q2773K	ENSP00000265368:Q2734K	Q	-	1	0	SYNE1	152750187	1.000000	0.71417	0.971000	0.41717	0.982000	0.71751	5.236000	0.65354	1.439000	0.47511	0.655000	0.94253	CAA		0.368	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		5	219	1	0	0.00116845	1	0.00129573	5	219				
ATP10B	23120	broad.mit.edu	37	5	160061536	160061536	+	Silent	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:160061536A>G	ENST00000327245.5	-	12	2052	c.1206T>C	c.(1204-1206)ctT>ctC	p.L402L	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	402					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATACAGGTCAAGGTCATTGC	0.478																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(1204-1206)ctT>ctC		ATPase, class V, type 10B							140.0	135.0	137.0					5																	160061536		1979	4158	6137	SO:0001819	synonymous_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160061536A>G	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1206T>C	5.37:g.160061536A>G			Somatic				CTC-348L5.1_ENST00000523598.1_RNA	p.L402L	NM_025153.2	NP_079429.2	WXS	Illumina GAIIx	Phase_I	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		12	2052	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	402					Q9H725	Silent	SNP	ENST00000327245.5	37	c.1206T>C	CCDS43394.1																																																																																				0.478	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		5	502	0	0	0	1	0	5	502				
LRP1	4035	broad.mit.edu	37	12	57567703	57567703	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:57567703G>A	ENST00000243077.3	+	22	3953	c.3487G>A	c.(3487-3489)Gac>Aac	p.D1163N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1163	LDL-receptor class A 10. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)	CCTGCCCCCTGACAAGCTGTG	0.632																																						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.(3487-3489)Gac>Aac		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						132.0	94.0	107.0					12																	57567703		2203	4300	6503	SO:0001583	missense	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.chr12:57567703G>A	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.3487G>A	12.37:g.57567703G>A	ENSP00000243077:p.Asp1163Asn		Somatic					p.D1163N	NM_002332.2	NP_002323.2	WXS	Illumina GAIIx	Phase_I	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	22	3953	+			1163			LDL-receptor class A 10.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.3487G>A	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174212	0.78452	.	.	ENSG00000123384	ENST00000243077	D	0.95482	-3.72	5.03	5.03	0.67393	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.146942	0.43110	D	0.000606	D	0.89914	0.6853	N	0.11427	0.14	0.80722	D	1	B	0.27625	0.183	B	0.30943	0.122	D	0.86740	0.1954	10	0.22109	T	0.4	.	17.2939	0.87164	0.0:0.0:1.0:0.0	.	1163	Q07954	LRP1_HUMAN	N	1163	ENSP00000243077:D1163N	ENSP00000243077:D1163N	D	+	1	0	LRP1	55853970	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.860000	0.86993	2.619000	0.88677	0.491000	0.48974	GAC		0.632	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		4	89	0	0	0	1	0	4	89				
RCSD1	92241	broad.mit.edu	37	1	167653164	167653164	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:167653164G>T	ENST00000367854.3	+	2	365	c.34G>T	c.(34-36)Gtg>Ttg	p.V12L	RCSD1_ENST00000537350.1_Missense_Mutation_p.V12L	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	12					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CAATGCCAATGTGGACAACTC	0.587																																						ENST00000367854.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24						c.(34-36)Gtg>Ttg		RCSD domain containing 1							150.0	162.0	158.0					1																	167653164		2203	4300	6503	SO:0001583	missense	92241							g.chr1:167653164G>T	BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.34G>T	1.37:g.167653164G>T	ENSP00000356828:p.Val12Leu		Somatic				RCSD1_ENST00000537350.1_Missense_Mutation_p.V12L	p.V12L	NM_052862.3	NP_443094.3	WXS	Illumina GAIIx	Phase_I	Q6JBY9	CPZIP_HUMAN			2	365	+	all_hematologic(923;0.215)		12					B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Missense_Mutation	SNP	ENST00000367854.3	37	c.34G>T	CCDS1263.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891743	0.52014	.	.	ENSG00000198771	ENST00000367854;ENST00000361496;ENST00000537350	T;T	0.58210	0.35;0.54	5.25	5.25	0.73442	.	0.363121	0.24713	N	0.036218	T	0.58821	0.2149	L	0.57536	1.79	0.29738	N	0.837351	D;D	0.76494	0.994;0.999	D;D	0.76071	0.978;0.987	T	0.64829	-0.6315	9	0.62326	D	0.03	-23.15	11.1679	0.48554	0.0857:0.0:0.9143:0.0	.	12;12	B7ZKW8;Q6JBY9	.;CPZIP_HUMAN	L	12	ENSP00000356828:V12L;ENSP00000439409:V12L	ENSP00000355291:V12L	V	+	1	0	RCSD1	165919788	0.999000	0.42202	0.934000	0.37439	0.098000	0.18820	3.780000	0.55386	2.429000	0.82318	0.655000	0.94253	GTG		0.587	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1	NM_052862		130	820	1	0	1.6318e-82	1	2.40054e-82	130	820				
NUP85	79902	broad.mit.edu	37	17	73221470	73221470	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:73221470C>A	ENST00000245544.4	+	9	837	c.766C>A	c.(766-768)Ctg>Atg	p.L256M	NUP85_ENST00000541827.1_Missense_Mutation_p.L210M|NUP85_ENST00000447371.2_Missense_Mutation_p.L88M|NUP85_ENST00000540768.1_5'Flank|NUP85_ENST00000579298.1_Missense_Mutation_p.L211M|NUP85_ENST00000579324.1_Missense_Mutation_p.L144M|NUP85_ENST00000449421.2_3'UTR	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	256					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			AGAGCTGGAGCTGAAGTGGCA	0.562																																						ENST00000447371.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16						c.(262-264)Ctg>Atg		nucleoporin 85kDa							70.0	61.0	64.0					17																	73221470		2203	4300	6503	SO:0001583	missense	79902				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	g.chr17:73221470C>A	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.766C>A	17.37:g.73221470C>A	ENSP00000245544:p.Leu256Met		Somatic				NUP85_ENST00000579324.1_Missense_Mutation_p.L144M|NUP85_ENST00000579298.1_Missense_Mutation_p.L211M|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000541827.1_Missense_Mutation_p.L210M|NUP85_ENST00000245544.4_Missense_Mutation_p.L256M	p.L88M			WXS	Illumina GAIIx	Phase_I	Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		8	686	+	all_lung(278;0.14)|Lung NSC(278;0.168)		256					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	ENST00000245544.4	37	c.262C>A	CCDS32730.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180997	0.38511	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000449421;ENST00000447371	.	.	.	5.4	5.4	0.78164	.	0.070434	0.64402	D	0.000019	T	0.42562	0.1208	L	0.31664	0.95	0.48087	D	0.99958	P;P	0.40000	0.698;0.698	B;B	0.40702	0.338;0.338	T	0.27839	-1.0062	9	0.31617	T	0.26	-13.1633	12.5637	0.56297	0.0:0.9242:0.0:0.0758	.	210;256	B4DMQ3;Q9BW27	.;NUP85_HUMAN	M	256;210;210;88	.	ENSP00000245544:L256M	L	+	1	2	NUP85	70733065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.097000	0.57741	2.551000	0.86045	0.644000	0.83932	CTG		0.562	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844		6	59	1	0	0.0809354	1	0.0844182	6	59				
BRF2	55290	broad.mit.edu	37	8	37704631	37704631	+	Missense_Mutation	SNP	C	C	T	rs142395337		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:37704631C>T	ENST00000220659.6	-	3	397	c.277G>A	c.(277-279)Gcg>Acg	p.A93T	BRF2_ENST00000520601.1_Missense_Mutation_p.A93T|BRF2_ENST00000521170.1_3'UTR	NM_018310.3	NP_060780.2	P47974	TISD_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	0					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			TAGGCAACCGCGGTATCCTCA	0.547																																						ENST00000220659.6																			0				breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12						c.(277-279)Gcg>Acg		BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	135.0	124.0	128.0		277	5.7	1.0	8	dbSNP_134	128	0,8600		0,0,4300	no	missense	BRF2	NM_018310.3	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	93/420	37704631	1,13005	2203	4300	6503	SO:0001583	missense	55290				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding	g.chr8:37704631C>T	AF298153	CCDS6098.1	8p11.23	2013-05-29	2013-05-29		ENSG00000104221	ENSG00000104221			17298	protein-coding gene	gene with protein product		607013	"""BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like"""			11483580, 11564744	Standard	NM_018310		Approved	FLJ11052, BRFU, TFIIIB50	uc003xkk.3	Q9HAW0	OTTHUMG00000164025	ENST00000220659.6:c.277G>A	8.37:g.37704631C>T	ENSP00000220659:p.Ala93Thr		Somatic				BRF2_ENST00000520601.1_Missense_Mutation_p.A93T|BRF2_ENST00000521170.1_3'UTR	p.A93T	NM_018310.3	NP_060780.2	WXS	Illumina GAIIx	Phase_I	Q9HAW0	BRF2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)		3	397	-		Lung NSC(58;0.118)|all_lung(54;0.195)	93					Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000220659.6	37	c.277G>A	CCDS6098.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725708	0.89298	2.27E-4	0.0	ENSG00000104221	ENST00000220659;ENST00000545765;ENST00000520601	.	.	.	5.68	5.68	0.88126	Cyclin-like (3);	0.116455	0.64402	D	0.000012	T	0.76933	0.4057	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	T	0.77222	-0.2667	9	0.62326	D	0.03	.	19.7987	0.96497	0.0:1.0:0.0:0.0	.	93	Q9HAW0	BRF2_HUMAN	T	93;70;93	.	ENSP00000220659:A93T	A	-	1	0	BRF2	37823789	0.992000	0.36948	0.972000	0.41901	0.943000	0.58893	3.042000	0.49815	2.696000	0.92011	0.555000	0.69702	GCG		0.547	BRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376811.2	NM_018310		7	787	0	0	0	1	0	7	787				
CXorf58	254158	broad.mit.edu	37	X	23933821	23933821	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:23933821T>C	ENST00000379211.3	+	4	770	c.221T>C	c.(220-222)tTc>tCc	p.F74S		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	74										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						TTTCAGGAATTCTATGTAACA	0.378																																						ENST00000379211.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						c.(220-222)tTc>tCc		chromosome X open reading frame 58							71.0	58.0	62.0					X																	23933821		2203	4299	6502	SO:0001583	missense	254158							g.chrX:23933821T>C	AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.221T>C	X.37:g.23933821T>C	ENSP00000368511:p.Phe74Ser		Somatic					p.F74S	NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	WXS	Illumina GAIIx	Phase_I	Q96LI9	CX058_HUMAN			4	770	+			74						Missense_Mutation	SNP	ENST00000379211.3	37	c.221T>C	CCDS14209.1	.	.	.	.	.	.	.	.	.	.	t	9.252	1.040960	0.19669	.	.	ENSG00000165182	ENST00000379211	T	0.28255	1.62	5.85	-1.38	0.09027	.	1.673390	0.03232	N	0.179161	T	0.15349	0.0370	N	0.14661	0.345	0.09310	N	1	B;B	0.30973	0.302;0.302	B;B	0.27380	0.079;0.079	T	0.06232	-1.0838	10	0.25106	T	0.35	0.0307	2.1404	0.03774	0.4005:0.1273:0.0749:0.3972	.	74;74	B7ZLS7;Q96LI9	.;CX058_HUMAN	S	74	ENSP00000368511:F74S	ENSP00000368511:F74S	F	+	2	0	CXorf58	23843742	0.000000	0.05858	0.000000	0.03702	0.182000	0.23217	0.054000	0.14205	-0.663000	0.05331	-0.688000	0.03733	TTC		0.378	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056071.1	NM_152761		4	15	0	0	0	1	0	4	15				
FKBP9	11328	broad.mit.edu	37	7	33020118	33020118	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:33020118G>A	ENST00000242209.4	+	5	1015	c.846G>A	c.(844-846)agG>agA	p.R282R	FKBP9_ENST00000490776.2_Silent_p.R50R|FKBP9_ENST00000538336.1_Silent_p.R335R|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Silent_p.R144R|FKBP9_ENST00000489038.1_3'UTR	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	282	PPIase FKBP-type 3. {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)			ACTTTCTCAGGTATCATTACA	0.413																																						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.(844-846)agG>agA		FK506 binding protein 9, 63 kDa							132.0	123.0	126.0					7																	33020118		2203	4300	6503	SO:0001819	synonymous_variant	11328				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:33020118G>A	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.846G>A	7.37:g.33020118G>A			Somatic				FKBP9_ENST00000489038.1_3'UTR|FKBP9_ENST00000538443.1_Silent_p.R144R|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000490776.2_Silent_p.R50R|FKBP9_ENST00000538336.1_Silent_p.R335R	p.R282R	NM_007270.3	NP_009201.2	WXS	Illumina GAIIx	Phase_I	O95302	FKBP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0156)		5	1015	+			282			PPIase FKBP-type 3.		B3KY35|B7Z1G9|B7Z6H3|Q2M2A1|Q3MIR7|Q6IN76|Q6P2N1|Q96EX5|Q96IJ9	Silent	SNP	ENST00000242209.4	37	c.846G>A	CCDS5439.1																																																																																				0.413	FKBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215137.1	NM_007270		4	321	0	0	0	1	0	4	321				
TP53BP1	7158	broad.mit.edu	37	15	43748606	43748606	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:43748606G>A	ENST00000263801.3	-	12	2437	c.2185C>T	c.(2185-2187)Caa>Taa	p.Q729*	TP53BP1_ENST00000605155.1_5'Flank|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.Q734*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.Q734*|TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.Q734*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	729					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GCCAACTTTTGAGGGGAATCA	0.408								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(2185-2187)Caa>Taa	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							100.0	102.0	101.0					15																	43748606		2201	4298	6499	SO:0001587	stop_gained	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43748606G>A	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2185C>T	15.37:g.43748606G>A	ENSP00000263801:p.Gln729*		Somatic				TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.Q734*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.Q734*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.Q734*	p.Q729*	NM_005657.2	NP_005648.1	WXS	Illumina GAIIx	Phase_I	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	12	2437	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	729					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Nonsense_Mutation	SNP	ENST00000263801.3	37	c.2185C>T	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	36	5.821680	0.96989	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	.	.	.	5.03	3.03	0.35002	.	0.508972	0.19487	N	0.113091	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	0.1646	9.2853	0.37753	0.0:0.1271:0.6632:0.2097	.	.	.	.	X	729;734;734;734;734	.	ENSP00000263801:Q729X	Q	-	1	0	TP53BP1	41535898	0.002000	0.14202	0.287000	0.24848	0.314000	0.28054	1.122000	0.31295	2.487000	0.83934	0.563000	0.77884	CAA		0.408	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			6	250	0	0	0	1	0	6	250				
NFYC	4802	broad.mit.edu	37	1	41204585	41204585	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:41204585C>A	ENST00000308733.5	+	1	76	c.70C>A	c.(70-72)Cct>Act	p.P24T	NFYC_ENST00000372653.1_Missense_Mutation_p.P24T|NFYC_ENST00000440226.3_Missense_Mutation_p.P24T|NFYC_ENST00000372652.1_Missense_Mutation_p.P24T|NFYC_ENST00000425457.2_Missense_Mutation_p.P24T|NFYC_ENST00000447388.3_Missense_Mutation_p.P24T|NFYC_ENST00000456393.2_Missense_Mutation_p.P24T|NFYC_ENST00000372654.1_Missense_Mutation_p.P24T|NFYC_ENST00000427410.2_Missense_Mutation_p.P24T|NFYC_ENST00000372651.1_Missense_Mutation_p.P24T			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	24					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			GTCGTTCTGGCCTCGGGTCAT	0.408																																						ENST00000372652.1																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15						c.(70-72)Cct>Act		nuclear transcription factor Y, gamma							101.0	103.0	102.0					1																	41204585		2203	4300	6503	SO:0001583	missense	4802				protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:41204585C>A	U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.70C>A	1.37:g.41204585C>A	ENSP00000312617:p.Pro24Thr		Somatic				NFYC_ENST00000425457.2_Missense_Mutation_p.P24T|NFYC_ENST00000372653.1_Missense_Mutation_p.P24T|NFYC_ENST00000447388.3_Missense_Mutation_p.P24T|NFYC_ENST00000427410.2_Missense_Mutation_p.P24T|NFYC_ENST00000456393.2_Missense_Mutation_p.P24T|NFYC_ENST00000440226.3_Missense_Mutation_p.P24T|NFYC_ENST00000372651.1_Missense_Mutation_p.P24T|NFYC_ENST00000308733.5_Missense_Mutation_p.P24T|NFYC_ENST00000372654.1_Missense_Mutation_p.P24T	p.P24T			WXS	Illumina GAIIx	Phase_I	Q13952	NFYC_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)		2	338	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	24					B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Missense_Mutation	SNP	ENST00000308733.5	37	c.70C>A		.	.	.	.	.	.	.	.	.	.	C	22.6	4.310543	0.81358	.	.	ENSG00000066136	ENST00000427410;ENST00000447388;ENST00000425457;ENST00000453631;ENST00000456393;ENST00000372654;ENST00000534399;ENST00000372653;ENST00000372669;ENST00000372652;ENST00000372651;ENST00000531464;ENST00000440226;ENST00000525290;ENST00000530965;ENST00000416859;ENST00000308733	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.44083	0.93;1.5;1.49;1.0;1.5;1.5;1.54;2.52;1.53;1.5;1.5;0.99;1.0;1.48	5.93	5.02	0.67125	Histone-fold (1);	0.000000	0.85682	D	0.000000	T	0.54303	0.1850	L	0.61218	1.895	0.80722	D	1	P;P;D;P;D;P;P;D	0.60575	0.939;0.939;0.976;0.9;0.965;0.939;0.939;0.988	P;P;P;B;P;P;P;P	0.55785	0.535;0.703;0.7;0.262;0.784;0.448;0.448;0.637	T	0.58272	-0.7665	10	0.62326	D	0.03	.	13.1109	0.59273	0.0:0.9228:0.0:0.0772	.	24;24;24;24;24;24;24;24	B4DW63;B4DVS8;Q13952;Q5T6K9;Q13952-3;F8VWM3;Q13952-2;B4DUS6	.;.;NFYC_HUMAN;.;.;.;.;.	T	24	ENSP00000408315:P24T;ENSP00000404427:P24T;ENSP00000396620:P24T;ENSP00000397647:P24T;ENSP00000408867:P24T;ENSP00000361738:P24T;ENSP00000361737:P24T;ENSP00000361754:P24T;ENSP00000361736:P24T;ENSP00000361734:P24T;ENSP00000414299:P24T;ENSP00000436710:P24T;ENSP00000409219:P24T;ENSP00000312617:P24T	ENSP00000312617:P24T	P	+	1	0	NFYC	40977172	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.691000	0.74573	1.528000	0.49103	0.655000	0.94253	CCT		0.408	NFYC-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000020802.1	NM_014223		3	31	1	0	0.115264	1	0.119247	3	31				
IGHV3-16	28447	broad.mit.edu	37	14	106622120	106622120	+	RNA	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:106622120G>A	ENST00000390604.2	-	0	198									immunoglobulin heavy variable 3-16 (non-functional)																		TCCAGAGGCTGCACAGGAGAG	0.587																																						ENST00000390604.2																			0																				112.0	104.0	107.0					14																	106622120		1846	4083	5929			28447							g.chr14:106622120G>A	M99655		14q32.33	2012-02-08	2008-08-22		ENSG00000211944	ENSG00000211944		"""Immunoglobulins / IGH locus"""	5583	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-16"""				Standard	NG_001019		Approved				OTTHUMG00000152273		14.37:g.106622120G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	198	-									RNA	SNP	ENST00000390604.2	37																																																																																						0.587	IGHV3-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325661.1	NG_001019		5	355	0	0	0	1	0	5	355				
DDX31	64794	broad.mit.edu	37	9	135522302	135522302	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:135522302C>A	ENST00000372159.3	-	12	1577	c.1426G>T	c.(1426-1428)Gca>Tca	p.A476S	DDX31_ENST00000372153.1_Missense_Mutation_p.A476S|DDX31_ENST00000310532.2_Missense_Mutation_p.A476S|DDX31_ENST00000438527.3_Missense_Mutation_p.A347S	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	476						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TCTGGTATTGCAAAGCTGTCC	0.532																																						ENST00000372159.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(1426-1428)Gca>Tca		DEAD (Asp-Glu-Ala-Asp) box polypeptide 31							123.0	108.0	113.0					9																	135522302		2203	4300	6503	SO:0001583	missense	64794					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr9:135522302C>A	AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"""DEAD-boxes"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16715	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 25"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"""				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.1426G>T	9.37:g.135522302C>A	ENSP00000361232:p.Ala476Ser		Somatic				DDX31_ENST00000372153.1_Missense_Mutation_p.A476S|DDX31_ENST00000310532.2_Missense_Mutation_p.A476S|DDX31_ENST00000438527.3_Missense_Mutation_p.A347S	p.A476S	NM_022779.7	NP_073616.6	WXS	Illumina GAIIx	Phase_I	Q9H8H2	DDX31_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)	12	1577	-			476					Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	ENST00000372159.3	37	c.1426G>T	CCDS6951.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.358564	0.41801	.	.	ENSG00000125485	ENST00000372159;ENST00000372155;ENST00000372153;ENST00000438527;ENST00000310532	T;T;T;T	0.04603	4.42;3.99;4.37;3.59	5.46	5.46	0.80206	.	0.200116	0.52532	D	0.000076	T	0.06645	0.0170	L	0.42581	1.335	0.80722	D	1	P;P	0.39352	0.669;0.539	B;B	0.40534	0.332;0.135	T	0.38607	-0.9653	10	0.07990	T	0.79	-18.2621	18.288	0.90120	0.0:1.0:0.0:0.0	.	476;476	Q9H8H2-2;Q9H8H2	.;DDX31_HUMAN	S	476;476;476;347;476	ENSP00000361232:A476S;ENSP00000361226:A476S;ENSP00000387730:A347S;ENSP00000310539:A476S	ENSP00000310539:A476S	A	-	1	0	DDX31	134512123	1.000000	0.71417	0.744000	0.31058	0.157000	0.22087	5.249000	0.65427	2.549000	0.85964	0.655000	0.94253	GCA		0.532	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054794.1	NM_138620		5	94	1	0	0.000602214	1	0.000670738	5	94				
PLXND1	23129	broad.mit.edu	37	3	129275241	129275241	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:129275241C>T	ENST00000324093.4	-	36	5870	c.5692G>A	c.(5692-5694)Gcc>Acc	p.A1898T	PLXND1_ENST00000393239.1_3'UTR|PLXND1_ENST00000504689.1_Intron	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1898					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GTCCTCCGGGCCGTGGGGTTG	0.612																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000324093.4																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(5692-5694)Gcc>Acc		plexin D1							140.0	134.0	136.0					3																	129275241		2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129275241C>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.5692G>A	3.37:g.129275241C>T	ENSP00000317128:p.Ala1898Thr		Somatic				PLXND1_ENST00000504689.1_Intron|PLXND1_ENST00000393239.1_3'UTR	p.A1898T	NM_015103.2	NP_055918.2	WXS	Illumina GAIIx	Phase_I	Q9Y4D7	PLXD1_HUMAN			36	5870	-			1898					A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.5692G>A	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165179	0.57476	.	.	ENSG00000004399	ENST00000324093	T	0.36520	1.25	4.72	3.7	0.42460	.	0.119969	0.56097	D	0.000034	T	0.19805	0.0476	N	0.21617	0.685	0.80722	D	1	B;B	0.09022	0.0;0.002	B;B	0.06405	0.0;0.002	T	0.13710	-1.0499	10	0.41790	T	0.15	.	3.1382	0.06446	0.0:0.5598:0.0:0.4402	.	494;1898	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	T	1898	ENSP00000317128:A1898T	ENSP00000317128:A1898T	A	-	1	0	PLXND1	130757931	1.000000	0.71417	0.935000	0.37517	0.995000	0.86356	4.026000	0.57232	2.158000	0.67659	0.462000	0.41574	GCC		0.612	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		5	64	0	0	0	1	0	5	64				
ZNF57	126295	broad.mit.edu	37	19	2917734	2917734	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:2917734C>G	ENST00000306908.5	+	4	1263	c.1115C>G	c.(1114-1116)gCc>gGc	p.A372G	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.A340G	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	372					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGGGAAAGCCTTCACTTGG	0.443																																					NSCLC(150;910 1964 4303 10464 26498)	ENST00000306908.5																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1114-1116)gCc>gGc		zinc finger protein 57							89.0	80.0	83.0					19																	2917734		2203	4300	6503	SO:0001583	missense	126295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2917734C>G	M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"""Zinc fingers, C2H2-type"", ""-"""	13125	protein-coding gene	gene with protein product			"""zinc finger protein 424"""	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.1115C>G	19.37:g.2917734C>G	ENSP00000303696:p.Ala372Gly		Somatic				ZNF57_ENST00000523428.1_Missense_Mutation_p.A340G|AC006277.2_ENST00000520090.2_RNA	p.A372G	NM_173480.2	NP_775751.1	WXS	Illumina GAIIx	Phase_I	Q68EA5	ZNF57_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1263	+			372					Q8N6R9	Missense_Mutation	SNP	ENST00000306908.5	37	c.1115C>G	CCDS12098.1	.	.	.	.	.	.	.	.	.	.	C	7.440	0.640412	0.14386	.	.	ENSG00000171970	ENST00000306908;ENST00000395204;ENST00000523428	T;T	0.13901	2.55;2.55	2.15	1.07	0.20283	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12220	0.0297	L	0.55017	1.72	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.31779	-0.9931	9	0.72032	D	0.01	.	3.3774	0.07242	0.0:0.5523:0.2741:0.1737	.	372	Q68EA5	ZNF57_HUMAN	G	372;374;340	ENSP00000303696:A372G;ENSP00000430223:A340G	ENSP00000303696:A372G	A	+	2	0	ZNF57	2868734	0.000000	0.05858	0.008000	0.14137	0.002000	0.02628	-0.037000	0.12164	0.232000	0.21100	0.511000	0.50034	GCC		0.443	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1	NM_173480		48	139	0	0	0	1	0	48	139				
KLHL6	89857	broad.mit.edu	37	3	183209922	183209922	+	Silent	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:183209922G>T	ENST00000341319.3	-	7	1694	c.1659C>A	c.(1657-1659)atC>atA	p.I553I		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	553					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TGCAGGGCGCGATACCGCAGC	0.662																																						ENST00000341319.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1657-1659)atC>atA		kelch-like family member 6							53.0	52.0	53.0					3																	183209922		2202	4299	6501	SO:0001819	synonymous_variant	89857							g.chr3:183209922G>T	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1659C>A	3.37:g.183209922G>T			Somatic					p.I553I	NM_130446.2	NP_569713.2	WXS	Illumina GAIIx	Phase_I	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		7	1694	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		553					B2RB31|D3DNS8|Q8N5I1|Q8N892	Silent	SNP	ENST00000341319.3	37	c.1659C>A	CCDS3245.2																																																																																				0.662	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		12	110	1	0	2.12542e-12	1	2.82464e-12	12	110				
DYNC1H1	1778	broad.mit.edu	37	14	102496024	102496024	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:102496024G>T	ENST00000360184.4	+	49	9781	c.9617G>T	c.(9616-9618)aGg>aTg	p.R3206M		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3206	Stalk. {ECO:0000250}.				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						GTGGGGCTCAGGAAGATCAAA	0.532																																						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.(9616-9618)aGg>aTg		dynein, cytoplasmic 1, heavy chain 1							92.0	82.0	85.0					14																	102496024		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102496024G>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.9617G>T	14.37:g.102496024G>T	ENSP00000348965:p.Arg3206Met		Somatic					p.R3206M	NM_001376.4	NP_001367.2	WXS	Illumina GAIIx	Phase_I	Q14204	DYHC1_HUMAN			49	9781	+			3206			Stalk (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.9617G>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700554	0.68501	.	.	ENSG00000197102	ENST00000360184	T	0.73258	-0.73	5.54	5.54	0.83059	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	T	0.71108	0.3301	L	0.29908	0.895	0.33970	D	0.646671	P	0.49253	0.921	P	0.51229	0.663	T	0.77490	-0.2568	10	0.46703	T	0.11	.	19.4734	0.94973	0.0:0.0:1.0:0.0	.	3206	Q14204	DYHC1_HUMAN	M	3206	ENSP00000348965:R3206M	ENSP00000348965:R3206M	R	+	2	0	DYNC1H1	101565777	1.000000	0.71417	0.089000	0.20774	0.975000	0.68041	9.807000	0.99171	2.606000	0.88127	0.585000	0.79938	AGG		0.532	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		95	315	1	0	1.44766e-59	1	2.10532e-59	95	315				
MSH4	4438	broad.mit.edu	37	1	76276447	76276447	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:76276447G>A	ENST00000263187.3	+	4	758	c.654G>A	c.(652-654)gtG>gtA	p.V218V		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	218					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CTTGTGCTGTGGGGAATTCCA	0.284								Mismatch excision repair (MMR)																														ENST00000263187.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(652-654)gtG>gtA	Mismatch excision repair (MMR)	mutS homolog 4							73.0	75.0	74.0					1																	76276447		2203	4298	6501	SO:0001819	synonymous_variant	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76276447G>A	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.654G>A	1.37:g.76276447G>A			Somatic					p.V218V	NM_002440.3	NP_002431.2	WXS	Illumina GAIIx	Phase_I	O15457	MSH4_HUMAN			4	758	+			218					Q5T4U6|Q8NEB3|Q9UNP8	Silent	SNP	ENST00000263187.3	37	c.654G>A	CCDS670.1																																																																																				0.284	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		3	52	0	0	0	1	0	3	52				
BRDT	676	broad.mit.edu	37	1	92446676	92446676	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:92446676T>A	ENST00000362005.3	+	11	2109	c.1691T>A	c.(1690-1692)cTa>cAa	p.L564Q	BRDT_ENST00000394530.3_Missense_Mutation_p.L518Q|BRDT_ENST00000370389.2_Missense_Mutation_p.L491Q|BRDT_ENST00000399546.2_Missense_Mutation_p.L564Q|BRDT_ENST00000402388.1_Missense_Mutation_p.L564Q	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	564	NET. {ECO:0000255|PROSITE- ProRule:PRU00857}.				cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GCATCAACACTAAGAGAATTA	0.358																																						ENST00000370389.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(1471-1473)cTa>cAa		bromodomain, testis-specific							72.0	76.0	74.0					1																	92446676		2203	4299	6502	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92446676T>A	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1691T>A	1.37:g.92446676T>A	ENSP00000354568:p.Leu564Gln		Somatic				BRDT_ENST00000394530.3_Missense_Mutation_p.L518Q|BRDT_ENST00000402388.1_Missense_Mutation_p.L564Q|BRDT_ENST00000362005.3_Missense_Mutation_p.L564Q|BRDT_ENST00000399546.2_Missense_Mutation_p.L564Q	p.L491Q	NM_001242810.1	NP_001229739.1	WXS	Illumina GAIIx	Phase_I	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	10	2396	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	564					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.1472T>A	CCDS735.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.591832	0.86953	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000394530;ENST00000402388	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.67	5.67	0.87782	.	0.000000	0.45126	D	0.000393	T	0.59715	0.2214	M	0.92604	3.325	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.996;0.999	T	0.71368	-0.4614	10	0.87932	D	0	-13.2105	16.2076	0.82138	0.0:0.0:0.0:1.0	.	518;518;568;564	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	Q	564;491;564;518;564	ENSP00000354568:L564Q;ENSP00000359416:L491Q;ENSP00000387822:L564Q;ENSP00000378038:L518Q;ENSP00000384051:L564Q	ENSP00000354568:L564Q	L	+	2	0	BRDT	92219264	0.987000	0.35691	0.987000	0.45799	0.988000	0.76386	7.862000	0.87013	2.285000	0.76669	0.477000	0.44152	CTA		0.358	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		4	70	0	0	0	1	0	4	70				
FAM228A	653140	broad.mit.edu	37	2	24406229	24406229	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:24406229C>T	ENST00000295150.3	+	4	324	c.238C>T	c.(238-240)Cag>Tag	p.Q80*	RP11-507M3.1_ENST00000584973.1_3'UTR	NM_001040710.1	NP_001035800.1	Q86W67	F228A_HUMAN	family with sequence similarity 228, member A	80																	AACTGGTCTTCAGTGTGAGAC	0.438																																						ENST00000295150.3																			0											c.(238-240)Cag>Tag		family with sequence similarity 228, member A							179.0	168.0	171.0					2																	24406229		1940	4137	6077	SO:0001587	stop_gained	653140							g.chr2:24406229C>T		CCDS42659.1	2p23.3	2012-07-04	2012-07-04	2012-07-04	ENSG00000186453	ENSG00000186453			34418	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 84"""	C2orf84			Standard	NM_001040710		Approved	FLJ30851	uc002rfc.3	Q86W67	OTTHUMG00000151903	ENST00000295150.3:c.238C>T	2.37:g.24406229C>T	ENSP00000295150:p.Gln80*		Somatic				RP11-507M3.1_ENST00000584973.1_3'UTR	p.Q80*	NM_001040710.1	NP_001035800.1	WXS	Illumina GAIIx	Phase_I					4	324	+									Nonsense_Mutation	SNP	ENST00000295150.3	37	c.238C>T	CCDS42659.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514100	0.64522	.	.	ENSG00000186453	ENST00000295150	.	.	.	4.71	2.86	0.33363	.	0.553838	0.17825	N	0.160737	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-0.0882	7.2916	0.26370	0.0:0.7339:0.1702:0.096	.	.	.	.	X	80	.	ENSP00000295150:Q80X	Q	+	1	0	C2orf84	24259733	0.001000	0.12720	0.000000	0.03702	0.057000	0.15508	0.875000	0.28079	0.640000	0.30582	0.563000	0.77884	CAG		0.438	FAM228A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324342.1	NM_001040710		6	81	0	0	0	1	0	6	81				
DDX60	55601	broad.mit.edu	37	4	169212948	169212948	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:169212948C>A	ENST00000393743.3	-	8	1283	c.992G>T	c.(991-993)aGa>aTa	p.R331I		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	331					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AGTGATGACTCTAGCACAAGC	0.373																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(991-993)aGa>aTa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							94.0	94.0	94.0					4																	169212948		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169212948C>A	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.992G>T	4.37:g.169212948C>A	ENSP00000377344:p.Arg331Ile		Somatic					p.R331I	NM_017631.5	NP_060101.3	WXS	Illumina GAIIx	Phase_I	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	8	1283	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	331					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.992G>T	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368623	0.42003	.	.	ENSG00000137628	ENST00000393743	T	0.34667	1.35	4.79	4.79	0.61399	.	0.000000	0.64402	D	0.000009	T	0.61590	0.2359	M	0.77103	2.36	0.34633	D	0.719858	D	0.89917	1.0	D	0.91635	0.999	T	0.74234	-0.3731	10	0.72032	D	0.01	.	15.7864	0.78306	0.0:1.0:0.0:0.0	.	331	Q8IY21	DDX60_HUMAN	I	331	ENSP00000377344:R331I	ENSP00000377344:R331I	R	-	2	0	DDX60	169449523	0.933000	0.31639	0.169000	0.22859	0.015000	0.08874	3.850000	0.55918	2.510000	0.84645	0.563000	0.77884	AGA		0.373	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		11	123	1	0	0.000219431	1	0.000249309	11	123				
KBTBD7	84078	broad.mit.edu	37	13	41767222	41767222	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr13:41767222G>A	ENST00000379483.3	-	1	1480	c.1172C>T	c.(1171-1173)cCa>cTa	p.P391L		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	391										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GTCATGGTCTGGGGACACACA	0.507																																						ENST00000379483.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1171-1173)cCa>cTa		kelch repeat and BTB (POZ) domain containing 7							92.0	84.0	87.0					13																	41767222		2203	4300	6503	SO:0001583	missense	84078						protein binding	g.chr13:41767222G>A	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1172C>T	13.37:g.41767222G>A	ENSP00000368797:p.Pro391Leu		Somatic					p.P391L	NM_032138.4	NP_115514.2	WXS	Illumina GAIIx	Phase_I	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	1480	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	391					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.1172C>T	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306620	0.40795	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.61980	0.06	4.9	4.9	0.64082	Kelch-type beta propeller (1);	0.000000	0.85682	U	0.000000	T	0.76198	0.3954	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76817	-0.2819	10	0.46703	T	0.11	.	15.5897	0.76517	0.0:0.0:1.0:0.0	.	391	Q8WVZ9	KBTB7_HUMAN	L	391;293	ENSP00000368797:P391L	ENSP00000368797:P391L	P	-	2	0	KBTBD7	40665222	1.000000	0.71417	1.000000	0.80357	0.260000	0.26232	6.389000	0.73199	2.246000	0.74042	0.557000	0.71058	CCA		0.507	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		29	52	0	0	0	1	0	29	52				
CARS2	79587	broad.mit.edu	37	13	111340073	111340073	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr13:111340073G>A	ENST00000257347.4	-	5	629	c.566C>T	c.(565-567)gCa>gTa	p.A189V	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	189				RGNAYSTAKGNVYFDLKSRGD -> SWERLFNGKRQCLLRS ESLEET (in Ref. 4; BAB93499). {ECO:0000305}.	cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	CCTACCTTTTGCCGTTGAATA	0.408																																						ENST00000257347.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13						c.(565-567)gCa>gTa		cysteinyl-tRNA synthetase 2, mitochondrial (putative)	L-Cysteine(DB00151)						156.0	167.0	163.0					13																	111340073		2203	4300	6503	SO:0001583	missense	79587				cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding	g.chr13:111340073G>A	BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	25695	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 2, mitochondrial (putative)"""	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.566C>T	13.37:g.111340073G>A	ENSP00000257347:p.Ala189Val		Somatic				CARS2_ENST00000535398.1_5'UTR	p.A189V	NM_024537.2	NP_078813.1	WXS	Illumina GAIIx	Phase_I	Q9HA77	SYCM_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.163)		5	629	-	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		189	RGNAYSTAKGNVYFDLKSRGD -> SWERLFNGKRQCLLRS ESLEET (in Ref. 4; BAB93499).				Q8NI84|Q96IV4	Missense_Mutation	SNP	ENST00000257347.4	37	c.566C>T	CCDS9514.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.794041	0.50102	.	.	ENSG00000134905	ENST00000257347;ENST00000542709	T	0.33216	1.42	4.47	0.387	0.16259	Rossmann-like alpha/beta/alpha sandwich fold (1);	1.097250	0.06908	N	0.807174	T	0.24812	0.0602	L	0.31926	0.97	0.09310	N	1	B	0.25235	0.121	B	0.32022	0.139	T	0.40365	-0.9567	10	0.48119	T	0.1	.	5.6433	0.17577	0.1658:0.0:0.5574:0.2767	.	189	Q9HA77	SYCM_HUMAN	V	189;180	ENSP00000257347:A189V	ENSP00000257347:A189V	A	-	2	0	CARS2	110138074	0.000000	0.05858	0.000000	0.03702	0.139000	0.21198	-0.476000	0.06591	0.423000	0.26033	0.557000	0.71058	GCA		0.408	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045772.3	NM_024537		11	1947	0	0	0	1	0	11	1947				
NFIB	4781	broad.mit.edu	37	9	14307284	14307284	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:14307284C>A	ENST00000380959.3	-	2	739	c.266G>T	c.(265-267)cGa>cTa	p.R89L	NFIB_ENST00000380953.1_Missense_Mutation_p.R89L|NFIB_ENST00000380934.4_Missense_Mutation_p.R115L|NFIB_ENST00000397575.3_Missense_Mutation_p.R89L|NFIB_ENST00000397579.2_Missense_Mutation_p.R89L|NFIB_ENST00000397581.2_Missense_Mutation_p.R89L|NFIB_ENST00000380921.3_Missense_Mutation_p.R89L	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	89					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|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 corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		AAAGTCCTCTCGATACTCCTG	0.507			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)	ENST00000380959.3				Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	"""MYB, HGMA2"""		"""adenoid cystic carcinoma, lipoma"""		0				central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17						c.(265-267)cGa>cTa		nuclear factor I/B							159.0	149.0	153.0					9																	14307284		2203	4300	6503	SO:0001583	missense	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14307284C>A	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.266G>T	9.37:g.14307284C>A	ENSP00000370346:p.Arg89Leu		Somatic				NFIB_ENST00000380953.1_Missense_Mutation_p.R89L|NFIB_ENST00000397575.3_Missense_Mutation_p.R89L|NFIB_ENST00000380921.3_Missense_Mutation_p.R89L|NFIB_ENST00000397581.2_Missense_Mutation_p.R89L|NFIB_ENST00000380934.4_Missense_Mutation_p.R115L|NFIB_ENST00000397579.2_Missense_Mutation_p.R89L	p.R89L	NM_005596.3	NP_005587.2	WXS	Illumina GAIIx	Phase_I	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	2	739	-			89					G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Missense_Mutation	SNP	ENST00000380959.3	37	c.266G>T	CCDS6474.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525719	0.85600	.	.	ENSG00000147862	ENST00000380934;ENST00000380959;ENST00000380953;ENST00000397575;ENST00000397581;ENST00000397579;ENST00000380921	T;T;T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82	5.71	5.71	0.89125	MAD homology 1, Dwarfin-type (2);CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.87253	0.6131	M	0.78049	2.395	0.80722	D	1	D;D;D	0.64830	0.994;0.994;0.994	D;D;D	0.76575	0.982;0.988;0.982	D	0.87925	0.2706	10	0.87932	D	0	.	19.8773	0.96884	0.0:1.0:0.0:0.0	.	89;89;89	Q5VW27;Q5VW29;O00712	.;.;NFIB_HUMAN	L	115;89;89;89;89;89;89	ENSP00000370321:R115L;ENSP00000370346:R89L;ENSP00000370340:R89L;ENSP00000380705:R89L;ENSP00000380711:R89L;ENSP00000380709:R89L;ENSP00000370308:R89L	ENSP00000370308:R89L	R	-	2	0	NFIB	14297284	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.686000	0.91538	0.650000	0.86243	CGA		0.507	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	NM_005596		33	620	1	0	2.32173e-10	1	2.9994e-10	33	620				
LPL	4023	broad.mit.edu	37	8	19809320	19809320	+	Missense_Mutation	SNP	C	C	T	rs201946950		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:19809320C>T	ENST00000311322.8	+	3	760	c.290C>T	c.(289-291)gCc>gTc	p.A97V	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	97					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	AAACTTGTGGCCGCCCTGTAC	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		16494	0.0		0.0	False		,,,				2504	0.001					ENST00000311322.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36	GRCh37	CX962381	LPL	X		c.(289-291)gCc>gTc		lipoprotein lipase	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)						229.0	215.0	220.0					8																	19809320		2203	4300	6503	SO:0001583	missense	4023				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	g.chr8:19809320C>T		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.290C>T	8.37:g.19809320C>T	ENSP00000309757:p.Ala97Val		Somatic				LPL_ENST00000521994.1_3'UTR	p.A97V	NM_000237.2	NP_000228.1	WXS	Illumina GAIIx	Phase_I	P06858	LIPL_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	3	760	+			97					B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	ENST00000311322.8	37	c.290C>T	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415344	0.62511	.	.	ENSG00000175445	ENST00000520959;ENST00000524029;ENST00000522701;ENST00000311322;ENST00000538071;ENST00000535763	D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84	5.76	3.9	0.45041	Lipase, N-terminal (1);	0.405038	0.29444	N	0.012138	D	0.89012	0.6594	M	0.63428	1.95	0.25706	N	0.98554	B	0.29341	0.242	B	0.39935	0.314	D	0.87707	0.2564	8	.	.	.	-11.2206	7.601	0.28075	0.2798:0.558:0.1622:0.0	.	97	P06858	LIPL_HUMAN	V	21;97;97;97;21;83	ENSP00000428496:A21V;ENSP00000428237:A97V;ENSP00000428557:A97V;ENSP00000309757:A97V	.	A	+	2	0	LPL	19853600	0.923000	0.31300	0.977000	0.42913	0.969000	0.65631	1.926000	0.40084	2.725000	0.93324	0.460000	0.39030	GCC		0.493	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			7	603	0	0	0	1	0	7	603				
PDXK	8566	broad.mit.edu	37	21	45165995	45165995	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr21:45165995G>A	ENST00000291565.4	+	5	550	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	PDXK_ENST00000468090.1_Missense_Mutation_p.E95K|PDXK_ENST00000467908.1_Missense_Mutation_p.E83K	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	123					cell proliferation (GO:0008283)|pyridoxal 5'-phosphate salvage (GO:0009443)|pyridoxal phosphate biosynthetic process (GO:0042823)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|protein homodimerization activity (GO:0042803)|pyridoxal kinase activity (GO:0008478)|pyridoxal phosphate binding (GO:0030170)|sodium ion binding (GO:0031402)|zinc ion binding (GO:0008270)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	GTGGGACGGCGAAGGCTCGAT	0.502																																						ENST00000291565.4																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(367-369)Gaa>Aaa		pyridoxal (pyridoxine, vitamin B6) kinase	Pyridoxal(DB00147)|Pyridoxine(DB00165)						302.0	236.0	258.0					21																	45165995		2203	4300	6503	SO:0001583	missense	8566				cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding	g.chr21:45165995G>A	U89606	CCDS13699.1	21q22.3	2007-05-10			ENSG00000160209	ENSG00000160209	2.7.1.35		8819	protein-coding gene	gene with protein product		179020	"""chromosome 21 open reading frame 97"", ""chromosome 21 open reading frame 124"""	C21orf97, C21orf124		9099727	Standard	NM_003681		Approved	PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873	uc002zdm.4	O00764	OTTHUMG00000086870	ENST00000291565.4:c.367G>A	21.37:g.45165995G>A	ENSP00000291565:p.Glu123Lys		Somatic				PDXK_ENST00000467908.1_Missense_Mutation_p.E83K|PDXK_ENST00000468090.1_Missense_Mutation_p.E95K	p.E123K	NM_003681.4	NP_003672.1	WXS	Illumina GAIIx	Phase_I	O00764	PDXK_HUMAN		Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	5	550	+			123					Q7Z2Y0|Q9BS02	Missense_Mutation	SNP	ENST00000291565.4	37	c.367G>A	CCDS13699.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542949	0.45280	.	.	ENSG00000160209	ENST00000468090;ENST00000291565;ENST00000463355;ENST00000467908	T;T;T	0.75938	-0.98;-0.98;-0.98	4.36	4.36	0.52297	Carbohydrate/purine kinase (1);	0.000000	0.64402	D	0.000010	T	0.63212	0.2492	N	0.22421	0.69	0.50171	D	0.999857	B;B;B	0.23442	0.007;0.085;0.014	B;B;B	0.20577	0.008;0.03;0.01	T	0.62872	-0.6762	10	0.51188	T	0.08	-22.6314	16.5078	0.84277	0.0:0.0:1.0:0.0	.	123;95;123	F2Z3F8;O00764-2;O00764	.;.;PDXK_HUMAN	K	95;123;123;83	ENSP00000418359:E95K;ENSP00000291565:E123K;ENSP00000420708:E83K	ENSP00000291565:E123K	E	+	1	0	PDXK	43990423	1.000000	0.71417	0.404000	0.26397	0.057000	0.15508	5.218000	0.65257	1.950000	0.56595	0.551000	0.68910	GAA		0.502	PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195636.1	NM_003681		12	285	0	0	0	1	0	12	285				
ZNF132	7691	broad.mit.edu	37	19	58945900	58945900	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:58945900G>T	ENST00000254166.3	-	3	1311	c.911C>A	c.(910-912)tCt>tAt	p.S304Y		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	304					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)			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CCTCAGCTTAGATGAGTGACT	0.388																																						ENST00000254166.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(910-912)tCt>tAt		zinc finger protein 132							75.0	79.0	78.0					19																	58945900		2203	4300	6503	SO:0001583	missense	7691					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58945900G>T	U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"""Zinc fingers, C2H2-type"", ""-"""	12916	protein-coding gene	gene with protein product		604074	"""zinc finger protein 132 (clone pHZ-12)"""			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.911C>A	19.37:g.58945900G>T	ENSP00000254166:p.Ser304Tyr		Somatic					p.S304Y	NM_003433.3	NP_003424.3	WXS	Illumina GAIIx	Phase_I	P52740	ZN132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)	3	1311	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	304					Q32MI9	Missense_Mutation	SNP	ENST00000254166.3	37	c.911C>A	CCDS12980.1	.	.	.	.	.	.	.	.	.	.	G	1.697	-0.502588	0.04261	.	.	ENSG00000131849	ENST00000254166;ENST00000391695	T	0.18502	2.21	3.57	-0.779	0.10973	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15132	0.0365	L	0.61218	1.895	0.09310	N	1	B	0.15141	0.012	B	0.12156	0.007	T	0.31558	-0.9939	9	0.46703	T	0.11	.	3.3805	0.07252	0.289:0.0:0.5245:0.1865	.	304	P52740	ZN132_HUMAN	Y	304;215	ENSP00000254166:S304Y	ENSP00000254166:S304Y	S	-	2	0	ZNF132	63637712	0.000000	0.05858	0.000000	0.03702	0.262000	0.26303	-0.120000	0.10660	-0.160000	0.11002	0.655000	0.94253	TCT		0.388	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	NM_003433		6	57	1	0	0.0293803	1	0.0307708	6	57				
RAF1	5894	broad.mit.edu	37	3	12632448	12632448	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:12632448G>C	ENST00000251849.4	-	12	1658	c.1219C>G	c.(1219-1221)Ctt>Gtt	p.L407V	RAF1_ENST00000442415.2_Missense_Mutation_p.L427V|RAF1_ENST00000542177.1_Missense_Mutation_p.L326V|RAF1_ENST00000534997.1_Missense_Mutation_p.L192V	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	407	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCCATGAAAAGCAGAATGTTC	0.547			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																													ENST00000251849.4				Dom	yes		3	3p25	5894	T	v-raf-1 murine leukemia viral oncogene homolog 1			M	SRGAP3		pilocytic astrocytoma	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32						c.(1219-1221)Ctt>Gtt		v-raf-1 murine leukemia viral oncogene homolog 1	Sorafenib(DB00398)						119.0	113.0	115.0					3																	12632448		2203	4300	6503	SO:0001583	missense	5894	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr3:12632448G>C	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"""C-Raf proto-oncogene, serine/threonine kinase"""	164760	"""v-raf-1 murine leukemia viral oncogene homolog 1"""			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.1219C>G	3.37:g.12632448G>C	ENSP00000251849:p.Leu407Val		Somatic				RAF1_ENST00000534997.1_Missense_Mutation_p.L192V|RAF1_ENST00000542177.1_Missense_Mutation_p.L326V|RAF1_ENST00000442415.2_Missense_Mutation_p.L427V	p.L407V	NM_002880.3	NP_002871.1	WXS	Illumina GAIIx	Phase_I	P04049	RAF1_HUMAN			12	1658	-			407			Protein kinase.		B0LPH8|B2R5N3|Q15278|Q9UC20	Missense_Mutation	SNP	ENST00000251849.4	37	c.1219C>G	CCDS2612.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771702	0.69992	.	.	ENSG00000132155	ENST00000251849;ENST00000442415;ENST00000432427;ENST00000534997;ENST00000542177	D;D;D;D;D	0.98914	-5.23;-5.23;-5.23;-5.23;-5.23	4.75	3.87	0.44632	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98912	0.9631	M	0.77616	2.38	0.58432	D	0.999997	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.97110	0.998;0.994;1.0	D	0.98570	1.0645	10	0.87932	D	0	.	13.8445	0.63459	0.0781:0.0:0.9219:0.0	.	326;192;407	B4E0X2;B4E1N6;P04049	.;.;RAF1_HUMAN	V	407;427;286;192;326	ENSP00000251849:L407V;ENSP00000401888:L427V;ENSP00000398591:L286V;ENSP00000441186:L192V;ENSP00000443567:L326V	ENSP00000251849:L407V	L	-	1	0	RAF1	12607448	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.755000	0.47540	2.617000	0.88574	0.563000	0.77884	CTT		0.547	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880		8	759	0	0	0	1	0	8	759				
YLPM1	56252	broad.mit.edu	37	14	75264606	75264606	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:75264606C>A	ENST00000325680.7	+	5	2730	c.2606C>A	c.(2605-2607)aCc>aAc	p.T869N	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.T674N	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	674	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TTAGCAGACACCAGTAGTAAC	0.443																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(2605-2607)aCc>aAc		YLP motif containing 1							88.0	86.0	87.0					14																	75264606		1937	4129	6066	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75264606C>A	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.2606C>A	14.37:g.75264606C>A	ENSP00000324463:p.Thr869Asn		Somatic				YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.T674N	p.T869N	NM_019589.2	NP_062535.2	WXS	Illumina GAIIx	Phase_I	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	5	2730	+			674			Arg-rich.		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000325680.7	37	c.2606C>A	CCDS45135.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904810	0.33628	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.66	4.75	0.60458	.	0.376626	0.26220	N	0.025637	T	0.26991	0.0661	N	0.22421	0.69	0.26154	N	0.980097	B	0.09022	0.002	B	0.08055	0.003	T	0.12941	-1.0528	9	0.41790	T	0.15	-6.527	7.5182	0.27612	0.1488:0.731:0.0:0.1203	.	869	P49750-4	.	N	869;674;582	.	ENSP00000238571:T674N	T	+	2	0	YLPM1	74334359	0.057000	0.20700	1.000000	0.80357	0.999000	0.98932	0.539000	0.23175	1.465000	0.48006	0.643000	0.83706	ACC		0.443	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		8	527	1	0	0.00307968	1	0.00337835	8	527				
PCLO	27445	broad.mit.edu	37	7	82581468	82581468	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:82581468G>A	ENST00000333891.9	-	5	9138	c.8801C>T	c.(8800-8802)gCa>gTa	p.A2934V	PCLO_ENST00000423517.2_Missense_Mutation_p.A2934V|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTTCTCCCTGCGGTTAAATC	0.428																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(8800-8802)gCa>gTa		piccolo presynaptic cytomatrix protein							107.0	108.0	108.0					7																	82581468		1908	4127	6035	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82581468G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.8801C>T	7.37:g.82581468G>A	ENSP00000334319:p.Ala2934Val		Somatic				PCLO_ENST00000333891.8_Missense_Mutation_p.A2934V	p.A2934V	NM_014510.2	NP_055325.2	WXS	Illumina GAIIx	Phase_I	Q9Y6V0	PCLO_HUMAN			5	9138	-			2865						Missense_Mutation	SNP	ENST00000333891.9	37	c.8801C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779138	0.31502	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.21191	2.02;2.04	5.67	5.67	0.87782	.	.	.	.	.	T	0.45955	0.1368	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	T	0.33854	-0.9852	9	0.87932	D	0	.	19.7661	0.96342	0.0:0.0:1.0:0.0	.	2934;2934	Q9Y6V0-5;Q9Y6V0-6	.;.	V	2865;2934;2934	ENSP00000334319:A2934V;ENSP00000388393:A2934V	ENSP00000334319:A2934V	A	-	2	0	PCLO	82419404	1.000000	0.71417	1.000000	0.80357	0.412000	0.31113	9.830000	0.99415	2.660000	0.90430	0.557000	0.71058	GCA		0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		6	495	0	0	0	1	0	6	495				
SDHA	6389	broad.mit.edu	37	5	228381	228381	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:228381A>T	ENST00000264932.6	+	6	818	c.703A>T	c.(703-705)Atc>Ttc	p.I235F	SDHA_ENST00000510361.1_Missense_Mutation_p.I187F|SDHA_ENST00000504309.1_Missense_Mutation_p.I235F	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	235					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CCGTGGTGTCATCGCACTGTG	0.428									Familial Paragangliomas																													ENST00000264932.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(703-705)Atc>Ttc		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						99.0	91.0	94.0					5																	228381		2203	4300	6503	SO:0001583	missense	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:228381A>T	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.703A>T	5.37:g.228381A>T	ENSP00000264932:p.Ile235Phe		Somatic				SDHA_ENST00000504309.1_Missense_Mutation_p.I235F|SDHA_ENST00000510361.1_Missense_Mutation_p.I187F	p.I235F	NM_004168.2	NP_004159.2	WXS	Illumina GAIIx	Phase_I	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		6	818	+			235					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.703A>T	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	a	19.19	3.779259	0.70107	.	.	ENSG00000073578	ENST00000264932;ENST00000504309;ENST00000510361	T;T;T	0.70869	-0.52;-0.52;-0.52	5.23	5.23	0.72850	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.136916	0.47455	U	0.000240	D	0.82774	0.5110	M	0.81942	2.565	0.80722	D	1	D;D;D;D;D	0.69078	0.98;0.993;0.997;0.997;0.997	P;D;P;D;D	0.63703	0.883;0.917;0.88;0.917;0.917	D	0.85499	0.1190	10	0.87932	D	0	.	13.4155	0.60966	1.0:0.0:0.0:0.0	.	187;235;235;235;241	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	F	235;235;187	ENSP00000264932:I235F;ENSP00000426514:I235F;ENSP00000427703:I187F	ENSP00000264932:I235F	I	+	1	0	SDHA	281381	1.000000	0.71417	0.042000	0.18584	0.341000	0.28922	8.895000	0.92512	2.127000	0.65507	0.524000	0.50904	ATC		0.428	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		5	87	0	0	0	1	0	5	87				
DNAH3	55567	broad.mit.edu	37	16	21071661	21071661	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:21071661C>A	ENST00000261383.3	-	26	3736	c.3737G>T	c.(3736-3738)tGg>tTg	p.W1246L	DNAH3_ENST00000415178.1_Missense_Mutation_p.W1246L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1246	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTGCTGGAGCCACTTTTCCAC	0.527																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(3736-3738)tGg>tTg		dynein, axonemal, heavy chain 3							164.0	156.0	159.0					16																	21071661		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21071661C>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3737G>T	16.37:g.21071661C>A	ENSP00000261383:p.Trp1246Leu		Somatic				DNAH3_ENST00000415178.1_Missense_Mutation_p.W1246L	p.W1246L	NM_017539.1	NP_060009.1	WXS	Illumina GAIIx	Phase_I	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	26	3736	-			1246			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.3737G>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.043389	0.93685	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.71341	-0.56;-0.56	5.47	5.47	0.80525	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	D	0.91036	0.7180	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94308	0.7543	10	0.87932	D	0	.	19.3379	0.94326	0.0:1.0:0.0:0.0	.	1246	Q8TD57	DYH3_HUMAN	L	1246	ENSP00000261383:W1246L;ENSP00000394245:W1246L	ENSP00000261383:W1246L	W	-	2	0	DNAH3	20979162	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.751000	0.85126	2.583000	0.87209	0.637000	0.83480	TGG		0.527	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		24	339	1	0	1.42536e-11	1	1.86505e-11	24	339				
PCDHB7	56129	broad.mit.edu	37	5	140553263	140553263	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:140553263T>C	ENST00000231137.3	+	1	1021	c.847T>C	c.(847-849)Tac>Cac	p.Y283H		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	283	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCATTTTCTTACGCCACTGA	0.438																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(847-849)Tac>Cac									81.0	86.0	84.0					5																	140553263		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553263T>C	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.847T>C	5.37:g.140553263T>C	ENSP00000231137:p.Tyr283His		Somatic					p.Y283H	NM_018940.2	NP_061763.1	WXS	Illumina GAIIx	Phase_I	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1021	+			283			Cadherin 3.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.847T>C	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	T	0.691	-0.794632	0.02862	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.51325	0.71	4.61	1.91	0.25777	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.13286	0.0322	N	0.00630	-1.315	0.21652	N	0.999603	B	0.06786	0.001	B	0.11329	0.006	T	0.28332	-1.0047	9	0.14252	T	0.57	.	2.2093	0.03944	0.2427:0.3597:0.0:0.3976	.	283	Q9Y5E2	PCDB7_HUMAN	H	283;66	ENSP00000231137:Y283H	ENSP00000231137:Y283H	Y	+	1	0	PCDHB7	140533447	0.000000	0.05858	0.953000	0.39169	0.789000	0.44602	-0.259000	0.08721	0.719000	0.32188	0.533000	0.62120	TAC		0.438	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		4	413	0	0	0	1	0	4	413				
DNAJC2	27000	broad.mit.edu	37	7	102953051	102953051	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:102953051C>A	ENST00000379263.3	-	17	2081	c.1831G>T	c.(1831-1833)Gaa>Taa	p.E611*	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Nonsense_Mutation_p.E558*|PMPCB_ENST00000249269.4_3'UTR	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	611					'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						AGCACTTGTTCTTGAGCAGCT	0.328																																						ENST00000379263.3																			0				endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						c.(1831-1833)Gaa>Taa		DnaJ (Hsp40) homolog, subfamily C, member 2							177.0	158.0	164.0					7																	102953051		1858	4102	5960	SO:0001587	stop_gained	27000				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding	g.chr7:102953051C>A	X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"""Heat shock proteins / DNAJ (HSP40)"""	13192	protein-coding gene	gene with protein product		605502	"""zuotin related factor 1"""	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.1831G>T	7.37:g.102953051C>A	ENSP00000368565:p.Glu611*		Somatic				PMPCB_ENST00000249269.4_3'UTR|DNAJC2_ENST00000249270.7_Nonsense_Mutation_p.E558*|PMPCB_ENST00000420236.2_Intron	p.E611*	NM_014377.1	NP_055192.1	WXS	Illumina GAIIx	Phase_I	Q99543	DNJC2_HUMAN			17	2081	-			611					A4VCI0|Q9BVX1	Nonsense_Mutation	SNP	ENST00000379263.3	37	c.1831G>T	CCDS43628.1	.	.	.	.	.	.	.	.	.	.	C	37	6.076131	0.97262	.	.	ENSG00000105821	ENST00000249270;ENST00000379263	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-14.4074	19.664	0.95886	0.0:1.0:0.0:0.0	.	.	.	.	X	558;611	.	ENSP00000249270:E558X	E	-	1	0	DNAJC2	102740287	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.410000	0.66381	2.656000	0.90262	0.655000	0.94253	GAA		0.328	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1			5	182	1	0	0.0293803	1	0.0307708	5	182				
ZNF236	7776	broad.mit.edu	37	18	74624255	74624255	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr18:74624255G>A	ENST00000253159.8	+	17	3053	c.2855G>A	c.(2854-2856)gGt>gAt	p.G952D	ZNF236_ENST00000320610.9_Missense_Mutation_p.G954D	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	952					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CAGGCACAAGGTTCCCAGTTT	0.488																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(2854-2856)gGt>gAt		zinc finger protein 236							67.0	68.0	68.0					18																	74624255		1949	4153	6102	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74624255G>A	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2855G>A	18.37:g.74624255G>A	ENSP00000253159:p.Gly952Asp		Somatic				ZNF236_ENST00000320610.9_Missense_Mutation_p.G954D	p.G952D	NM_007345.3	NP_031371.3	WXS	Illumina GAIIx	Phase_I	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	17	3053	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	952					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.2855G>A	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	1.165	-0.642757	0.03531	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.11495	2.77;2.9	5.63	4.74	0.60224	.	0.465056	0.21005	N	0.081786	T	0.06416	0.0165	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32981	-0.9886	10	0.13470	T	0.59	.	16.3683	0.83344	0.0:0.1319:0.8681:0.0	.	952	Q9UL36	ZN236_HUMAN	D	952	ENSP00000253159:G952D;ENSP00000444524:G952D	ENSP00000253159:G952D	G	+	2	0	ZNF236	72753243	0.090000	0.21635	0.000000	0.03702	0.020000	0.10135	2.873000	0.48475	1.340000	0.45581	0.655000	0.94253	GGT		0.488	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			12	93	0	0	0	1	0	12	93				
WFDC11	259239	broad.mit.edu	37	20	44279177	44279177	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:44279177C>T	ENST00000356562.2	-	3	284	c.63G>A	c.(61-63)ctG>ctA	p.L21L	WFDC11_ENST00000324384.3_Silent_p.L21L			Q8NEX6	WFD11_HUMAN	WAP four-disulfide core domain 11	21						extracellular region (GO:0005576)				endometrium(1)|lung(4)	5		Myeloproliferative disorder(115;0.0122)				CCAGCACAGACAGTAGCACCG	0.468																																						ENST00000356562.2																			0				endometrium(1)|lung(4)	5						c.(61-63)ctG>ctA		WAP four-disulfide core domain 11							237.0	200.0	213.0					20																	44279177		2203	4300	6503	SO:0001819	synonymous_variant	259239					extracellular region		g.chr20:44279177C>T	AY047609	CCDS13364.1	20q13.12	2013-01-21			ENSG00000180083	ENSG00000180083		"""WAP four-disulfide core domain containing"""	20478	protein-coding gene	gene with protein product						12206714	Standard	NM_147197		Approved	WAP11	uc002xpa.3	Q8NEX6	OTTHUMG00000046330	ENST00000356562.2:c.63G>A	20.37:g.44279177C>T			Somatic				WFDC11_ENST00000324384.3_Silent_p.L21L	p.L21L			WXS	Illumina GAIIx	Phase_I	Q8NEX6	WFD11_HUMAN			3	284	-		Myeloproliferative disorder(115;0.0122)	21					E1P624|Q5TGZ6	Silent	SNP	ENST00000356562.2	37	c.63G>A	CCDS13364.1																																																																																				0.468	WFDC11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106943.1			6	520	0	0	0	1	0	6	520				
NSD1	64324	broad.mit.edu	37	5	176638432	176638432	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:176638432G>C	ENST00000439151.2	+	5	3077	c.3032G>C	c.(3031-3033)aGt>aCt	p.S1011T	NSD1_ENST00000361032.4_Missense_Mutation_p.S908T|NSD1_ENST00000347982.4_Missense_Mutation_p.S742T|NSD1_ENST00000354179.4_Missense_Mutation_p.S742T	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1011					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCTGGTAAAAGTCGTTCAGAC	0.498			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(3031-3033)aGt>aCt		nuclear receptor binding SET domain protein 1							131.0	125.0	127.0					5																	176638432		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176638432G>C	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3032G>C	5.37:g.176638432G>C	ENSP00000395929:p.Ser1011Thr	HNSCC(47;0.14)	Somatic				NSD1_ENST00000347982.4_Missense_Mutation_p.S742T|NSD1_ENST00000354179.4_Missense_Mutation_p.S742T|NSD1_ENST00000361032.4_Missense_Mutation_p.S908T	p.S1011T	NM_022455.4	NP_071900.2	WXS	Illumina GAIIx	Phase_I	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	3077	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1011					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.3032G>C	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	7.175	0.588514	0.13812	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93076	-3.06;-3.06;-3.06;-3.16	4.7	-0.71	0.11234	.	0.846380	0.10568	N	0.659475	D	0.82287	0.5004	N	0.14661	0.345	0.09310	N	1	B;B;B	0.26547	0.136;0.152;0.044	B;B;B	0.28011	0.053;0.085;0.024	T	0.69587	-0.5105	9	.	.	.	.	0.932	0.01337	0.3814:0.1482:0.3083:0.1621	.	742;908;1011	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	T	742;1011;742;908	ENSP00000346111:S742T;ENSP00000395929:S1011T;ENSP00000343209:S742T;ENSP00000354310:S908T	.	S	+	2	0	NSD1	176571038	0.953000	0.32496	0.788000	0.31933	0.878000	0.50629	0.147000	0.16202	-0.252000	0.09528	0.563000	0.77884	AGT		0.498	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		10	736	0	0	0	1	0	10	736				
ACIN1	22985	broad.mit.edu	37	14	23532750	23532750	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:23532750C>A	ENST00000262710.1	-	13	3133	c.2806G>T	c.(2806-2808)Gaa>Taa	p.E936*	ACIN1_ENST00000555053.1_Nonsense_Mutation_p.E923*|ACIN1_ENST00000357481.2_Nonsense_Mutation_p.E178*|ACIN1_ENST00000397341.3_Nonsense_Mutation_p.E178*|ACIN1_ENST00000457657.1_Nonsense_Mutation_p.E896*|ACIN1_ENST00000557515.1_Nonsense_Mutation_p.E177*|ACIN1_ENST00000605057.1_Nonsense_Mutation_p.E878*|ACIN1_ENST00000338631.6_Nonsense_Mutation_p.E209*	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	936					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCCTCTTCTTCCCTCTGCCCA	0.517																																						ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(2806-2808)Gaa>Taa		apoptotic chromatin condensation inducer 1							93.0	84.0	87.0					14																	23532750		2203	4300	6503	SO:0001587	stop_gained	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23532750C>A	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.2806G>T	14.37:g.23532750C>A	ENSP00000262710:p.Glu936*		Somatic				ACIN1_ENST00000397341.3_Nonsense_Mutation_p.E178*|ACIN1_ENST00000605057.1_Nonsense_Mutation_p.E878*|ACIN1_ENST00000555053.1_Nonsense_Mutation_p.E923*|ACIN1_ENST00000557515.1_Nonsense_Mutation_p.E177*|ACIN1_ENST00000357481.2_Nonsense_Mutation_p.E178*|ACIN1_ENST00000338631.6_Nonsense_Mutation_p.E209*|ACIN1_ENST00000457657.1_Nonsense_Mutation_p.E896*	p.E936*	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	WXS	Illumina GAIIx	Phase_I	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	13	3133	-	all_cancers(95;1.36e-05)		936					B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Nonsense_Mutation	SNP	ENST00000262710.1	37	c.2806G>T	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	C	35	5.546447	0.96488	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053;ENST00000555566	.	.	.	5.16	5.16	0.70880	.	0.215770	0.23498	N	0.047535	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-4.5859	17.5916	0.87998	0.0:1.0:0.0:0.0	.	.	.	.	X	177;209;178;936;896;178;923;166	.	ENSP00000262710:E936X	E	-	1	0	ACIN1	22602590	1.000000	0.71417	0.997000	0.53966	0.927000	0.56198	5.764000	0.68826	2.683000	0.91414	0.655000	0.94253	GAA		0.517	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		97	810	1	0	9.84052e-24	1	1.3648e-23	97	810				
AMOTL2	51421	broad.mit.edu	37	3	134077468	134077468	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:134077468C>G	ENST00000422605.2	-	9	2361	c.2195G>C	c.(2194-2196)gGc>gCc	p.G732A	AMOTL2_ENST00000514516.1_Missense_Mutation_p.G790A|AMOTL2_ENST00000513145.1_Missense_Mutation_p.G730A|RPL39P5_ENST00000273411.2_RNA|AMOTL2_ENST00000249883.5_Missense_Mutation_p.G733A			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	732					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GTCTGGGGGGCCCTCAGTCTG	0.637											OREG0015814	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000514516.1																			0				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(2368-2370)gGc>gCc		angiomotin like 2							55.0	49.0	51.0					3																	134077468		2203	4300	6503	SO:0001583	missense	51421							g.chr3:134077468C>G	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.2195G>C	3.37:g.134077468C>G	ENSP00000409999:p.Gly732Ala		Somatic	OREG0015814	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1607	AMOTL2_ENST00000249883.5_Missense_Mutation_p.G733A|AMOTL2_ENST00000422605.2_Missense_Mutation_p.G732A|AMOTL2_ENST00000513145.1_Missense_Mutation_p.G730A	p.G790A	NM_001278683.1	NP_001265612.1	WXS	Illumina GAIIx	Phase_I	Q9Y2J4	AMOL2_HUMAN			9	2547	-			732					A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Missense_Mutation	SNP	ENST00000422605.2	37	c.2369G>C		.	.	.	.	.	.	.	.	.	.	C	13.57	2.275573	0.40294	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	T;T;T;T	0.17213	2.31;2.3;2.29;2.3	5.48	5.48	0.80851	.	0.592892	0.18301	N	0.145418	T	0.18341	0.0440	L	0.50333	1.59	0.09310	N	0.999995	P;P;P	0.41393	0.668;0.454;0.748	B;B;B	0.39738	0.308;0.176;0.162	T	0.24941	-1.0146	10	0.10377	T	0.69	-8.5974	17.1753	0.86840	0.0:1.0:0.0:0.0	.	730;733;790	Q9Y2J4-3;Q9Y2J4-2;E9PHW3	.;.;.	A	733;732;790;730	ENSP00000249883:G733A;ENSP00000409999:G732A;ENSP00000424765:G790A;ENSP00000425475:G730A	ENSP00000249883:G733A	G	-	2	0	AMOTL2	135560158	0.000000	0.05858	0.010000	0.14722	0.056000	0.15407	-0.167000	0.09940	2.572000	0.86782	0.655000	0.94253	GGC		0.637	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	NM_016201		4	54	0	0	0	1	0	4	54				
MTMR11	10903	broad.mit.edu	37	1	149905312	149905312	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:149905312G>A	ENST00000439741.2	-	10	1222	c.972C>T	c.(970-972)gcC>gcT	p.A324A	MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000369140.3_Silent_p.A252A|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_Silent_p.A296A	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	324	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GCAGGCAGAGGGCCCTCAGCC	0.557																																						ENST00000439741.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34						c.(970-972)gcC>gcT		myotubularin related protein 11							114.0	112.0	113.0					1																	149905312		2203	4300	6503	SO:0001819	synonymous_variant	10903						phosphatase activity	g.chr1:149905312G>A	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.972C>T	1.37:g.149905312G>A			Somatic				MTMR11_ENST00000406732.3_Silent_p.A296A|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000369140.3_Silent_p.A252A	p.A324A	NM_001145862.1	NP_001139334.1	WXS	Illumina GAIIx	Phase_I	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		10	1222	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		324			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Silent	SNP	ENST00000439741.2	37	c.972C>T	CCDS53360.1																																																																																				0.557	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		6	282	0	0	0	1	0	6	282				
HLA-DPB1	3115	broad.mit.edu	37	6	33053608	33053608	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:33053608C>A	ENST00000418931.2	+	4	815	c.699C>A	c.(697-699)ttC>ttA	p.F233L		NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	233					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	peptide antigen binding (GO:0042605)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						CTGGGGGCTTCGTGCTGGGGC	0.582																																						ENST00000418931.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						c.(697-699)ttC>ttA		major histocompatibility complex, class II, DP beta 1							109.0	96.0	100.0					6																	33053608		2203	4300	6503	SO:0001583	missense	3115				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex		g.chr6:33053608C>A		CCDS4765.1	6p21.3	2013-01-11			ENSG00000223865	ENSG00000223865		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4940	protein-coding gene	gene with protein product		142858		HLA-DP1B			Standard	NM_002121		Approved		uc003ocu.2	P04440	OTTHUMG00000031076	ENST00000418931.2:c.699C>A	6.37:g.33053608C>A	ENSP00000408146:p.Phe233Leu		Somatic					p.F233L	NM_002121.5	NP_002112.3	WXS	Illumina GAIIx	Phase_I	P04440	DPB1_HUMAN			4	815	+			233					A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12	Missense_Mutation	SNP	ENST00000418931.2	37	c.699C>A	CCDS4765.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	5.587|5.587|5.587	0.293019|0.293019|0.293019	0.10567|0.10567|0.10567	.|.|.	.|.|.	ENSG00000223865|ENSG00000223865|ENSG00000223865	ENST00000418931;ENST00000411942;ENST00000428835|ENST00000422592|ENST00000416804	T;T|.|.	0.00611|.|.	6.37;6.23|.|.	4.03|4.03|4.03	-5.38|-5.38|-5.38	0.02673|0.02673|0.02673	Immunoglobulin-like fold (1);|.|.	0.233893|.|.	0.35805|.|.	N|.|.	0.002964|.|.	T|T|.	0.03695|0.03695|.	0.0105|0.0105|.	N|N|N	0.11023|0.11023|0.11023	0.085|0.085|0.085	0.29679|0.29679|0.29679	N|N|N	0.841837|0.841837|0.841837	B;B;B|.|.	0.17038|.|.	0.011;0.02;0.02|.|.	B;B;B|.|.	0.20184|.|.	0.028;0.028;0.028|.|.	T|T|.	0.26985|0.26985|.	-1.0087|-1.0087|.	10|6|.	0.66056|0.87932|.	D|D|.	0.02|0|.	.|.|.	1.1904|1.1904|1.1904	0.01864|0.01864|0.01864	0.1314:0.2705:0.2801:0.318|0.1314:0.2705:0.2801:0.318|0.1314:0.2705:0.2801:0.318	.|.|.	199;243;233|.|.	A2ALJ6;Q59GY1;P04440|.|.	.;.;DPB1_HUMAN|.|.	L|S|X	233;203;210|44|200	ENSP00000408146:F233L;ENSP00000412654:F210L|.|.	ENSP00000389210:F203L|ENSP00000413559:R44S|.	F|R|S	+|+|+	3|1|2	2|0|0	HLA-DPB1|HLA-DPB1|HLA-DPB1	33161586|33161586|33161586	0.385000|0.385000|0.385000	0.25172|0.25172|0.25172	0.040000|0.040000|0.040000	0.18447|0.18447|0.18447	0.135000|0.135000|0.135000	0.20990|0.20990|0.20990	-0.612000|-0.612000|-0.612000	0.05616|0.05616|0.05616	-1.229000|-1.229000|-1.229000	0.02564|0.02564|0.02564	-0.366000|-0.366000|-0.366000	0.07423|0.07423|0.07423	TTC|CGT|TCG		0.582	HLA-DPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076106.2	NM_002121		43	236	1	0	2.01807e-28	1	2.83756e-28	43	236				
TSHZ1	10194	broad.mit.edu	37	18	72999908	72999908	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr18:72999908G>A	ENST00000580243.1	+	2	2894	c.2546G>A	c.(2545-2547)gGc>gAc	p.G849D	TSHZ1_ENST00000322038.5_Missense_Mutation_p.G804D			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	849					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AACCTCACAGGCCGCCTGACG	0.597																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(2410-2412)gGc>gAc		teashirt zinc finger homeobox 1							71.0	65.0	67.0					18																	72999908		2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72999908G>A	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2546G>A	18.37:g.72999908G>A	ENSP00000464391:p.Gly849Asp		Somatic				TSHZ1_ENST00000580243.1_Missense_Mutation_p.G849D	p.G804D	NM_005786.5	NP_005777.3	WXS	Illumina GAIIx	Phase_I	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	2995	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	849					O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.2411G>A		.	.	.	.	.	.	.	.	.	.	G	7.201	0.593468	0.13875	.	.	ENSG00000179981	ENST00000322038	T	0.11385	2.78	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.22360	0.0539	L	0.57536	1.79	0.38996	D	0.959251	D	0.71674	0.998	P	0.58820	0.846	T	0.02053	-1.1222	10	0.21014	T	0.42	-45.3327	12.0142	0.53305	0.08:0.0:0.92:0.0	.	849	Q6ZSZ6	TSH1_HUMAN	D	804	ENSP00000323584:G804D	ENSP00000323584:G804D	G	+	2	0	TSHZ1	71128896	1.000000	0.71417	1.000000	0.80357	0.565000	0.35776	9.420000	0.97426	0.174000	0.19809	0.561000	0.74099	GGC		0.597	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		3	61	0	0	0	1	0	3	61				
RASAL3	64926	broad.mit.edu	37	19	15566947	15566947	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:15566947C>A	ENST00000343625.7	-	11	1774	c.1689G>T	c.(1687-1689)gaG>gaT	p.E563D	RASAL3_ENST00000608577.1_5'Flank	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	563	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CGAAGACCTCCTCGCAGCTGT	0.577																																						ENST00000343625.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						c.(1687-1689)gaG>gaT		RAS protein activator like 3							80.0	84.0	83.0					19																	15566947		2010	4172	6182	SO:0001583	missense	64926				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr19:15566947C>A		CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.1689G>T	19.37:g.15566947C>A	ENSP00000341905:p.Glu563Asp		Somatic					p.E563D	NM_022904.1	NP_075055.1	WXS	Illumina GAIIx	Phase_I	Q86YV0	RASL3_HUMAN			11	1769	-			563			Ras-GAP.		Q8N2T9|Q9H735	Missense_Mutation	SNP	ENST00000343625.7	37	c.1689G>T	CCDS46006.1	.	.	.	.	.	.	.	.	.	.	c	16.92	3.256742	0.59321	.	.	ENSG00000105122	ENST00000343625	D	0.81659	-1.52	4.98	2.83	0.33086	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.225048	0.21152	U	0.079316	T	0.77485	0.4137	L	0.41824	1.3	0.39859	D	0.973353	P;P	0.49783	0.911;0.928	P;P	0.52066	0.562;0.689	T	0.77986	-0.2381	10	0.87932	D	0	.	6.4613	0.21958	0.0:0.7154:0.0:0.2846	.	563;563	Q86YV0-2;Q86YV0	.;RASL3_HUMAN	D	563	ENSP00000341905:E563D	ENSP00000341905:E563D	E	-	3	2	RASAL3	15427947	0.636000	0.27207	1.000000	0.80357	0.834000	0.47266	1.335000	0.33839	1.242000	0.43836	0.457000	0.33378	GAG		0.577	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461331.3	NM_022904		5	112	1	0	0.014758	1	0.0156823	5	112				
MRPL15	29088	broad.mit.edu	37	8	55049839	55049839	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:55049839A>G	ENST00000260102.4	+	3	349	c.275A>G	c.(274-276)cAg>cGg	p.Q92R		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	92					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.Q92P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			TTCAGACGCCAGTATAAGCCT	0.398																																						ENST00000260102.4																			1	Substitution - Missense(1)	p.Q92P(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10						c.(274-276)cAg>cGg		mitochondrial ribosomal protein L15							122.0	119.0	120.0					8																	55049839		2203	4300	6503	SO:0001583	missense	29088				translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	g.chr8:55049839A>G	AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547		"""Mitochondrial ribosomal proteins / large subunits"""	14054	protein-coding gene	gene with protein product		611828				11543634	Standard	NM_014175		Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.275A>G	8.37:g.55049839A>G	ENSP00000260102:p.Gln92Arg		Somatic					p.Q92R	NM_014175.3	NP_054894.1	WXS	Illumina GAIIx	Phase_I	Q9P015	RM15_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)		3	349	+		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	92					Q96Q54|Q9H0Y1	Missense_Mutation	SNP	ENST00000260102.4	37	c.275A>G	CCDS6158.1	.	.	.	.	.	.	.	.	.	.	A	19.75	3.886344	0.72410	.	.	ENSG00000137547	ENST00000260102;ENST00000519831	.	.	.	4.97	4.97	0.65823	Ribosomal protein L18e/L15P (2);	0.000000	0.85682	D	0.000000	T	0.64821	0.2633	L	0.38175	1.15	0.80722	D	1	B	0.30727	0.292	P	0.45794	0.493	T	0.66610	-0.5880	9	0.51188	T	0.08	-26.6787	14.9604	0.71153	1.0:0.0:0.0:0.0	.	92	Q9P015	RM15_HUMAN	R	92	.	ENSP00000260102:Q92R	Q	+	2	0	MRPL15	55212392	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.287000	0.95975	1.985000	0.57927	0.533000	0.62120	CAG		0.398	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378254.1	NM_014175		5	692	0	0	0	1	0	5	692				
TAGAP	117289	broad.mit.edu	37	6	159457058	159457058	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:159457058C>T	ENST00000367066.3	-	10	2328	c.1997G>A	c.(1996-1998)cGa>cAa	p.R666Q	RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.R488Q|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	666					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTGTTTCCATCGCTCAGGCAG	0.627																																						ENST00000367066.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23						c.(1996-1998)cGa>cAa		T-cell activation RhoGTPase activating protein							92.0	83.0	86.0					6																	159457058		2203	4300	6503	SO:0001583	missense	117289				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr6:159457058C>T	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.1997G>A	6.37:g.159457058C>T	ENSP00000356033:p.Arg666Gln		Somatic				RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.R488Q|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA	p.R666Q	NM_054114.3	NP_473455.2	WXS	Illumina GAIIx	Phase_I	Q8N103	TAGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	10	2328	-		Breast(66;0.000776)|Ovarian(120;0.0303)	666					Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	ENST00000367066.3	37	c.1997G>A	CCDS5261.1	.	.	.	.	.	.	.	.	.	.	C	7.585	0.669509	0.14776	.	.	ENSG00000164691	ENST00000367066;ENST00000326965	T;T	0.16897	2.31;2.57	5.09	-4.46	0.03536	.	1.404360	0.04014	N	0.298740	T	0.01320	0.0043	N	0.02011	-0.69	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.40213	-0.9575	10	0.18710	T	0.47	-0.6235	4.7259	0.12941	0.0855:0.548:0.2739:0.0926	.	666	Q8N103	TAGAP_HUMAN	Q	666;488	ENSP00000356033:R666Q;ENSP00000322650:R488Q	ENSP00000322650:R488Q	R	-	2	0	TAGAP	159377046	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.299000	0.08254	-0.621000	0.05633	-1.012000	0.02466	CGA		0.627	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		30	37	0	0	0	1	0	30	37				
PRUNE2	158471	broad.mit.edu	37	9	79259751	79259751	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:79259751C>A	ENST00000376718.3	-	12	8755	c.8632G>T	c.(8632-8634)Gac>Tac	p.D2878Y	PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000443509.2_Missense_Mutation_p.D127Y|PRUNE2_ENST00000223609.6_Missense_Mutation_p.D143Y|PRUNE2_ENST00000428286.1_Missense_Mutation_p.D2520Y	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2878					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGCCGGTTGTCCTCCCGTTCC	0.507																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(7558-7560)Gac>Tac		prune homolog 2 (Drosophila)							149.0	126.0	133.0					9																	79259751		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79259751C>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.8632G>T	9.37:g.79259751C>A	ENSP00000365908:p.Asp2878Tyr		Somatic				PRUNE2_ENST00000376718.3_Missense_Mutation_p.D2878Y|PRUNE2_ENST00000443509.2_Missense_Mutation_p.D127Y|PRUNE2_ENST00000223609.6_Missense_Mutation_p.D143Y|PRUNE2_ENST00000466266.2_5'UTR	p.D2520Y			WXS	Illumina GAIIx	Phase_I	Q8WUY3	PRUN2_HUMAN			12	8758	-			2878					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.7558G>T	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.2|29.2	4.983334|4.983334	0.93044|0.93044	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376717;ENST00000376718;ENST00000428286;ENST00000441554;ENST00000443509;ENST00000424866;ENST00000223609;ENST00000422033|ENST00000426088	T;T;T;T;T;T|.	0.58060|.	0.67;0.53;0.58;0.65;0.36;0.69|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81931|0.81931	0.4927|0.4927	M|M	0.79123|0.79123	2.44|2.44	0.80722|0.80722	D|D	1|1	D;P;D;D;D|.	0.89917|.	0.997;0.877;1.0;0.971;1.0|.	D;B;D;P;D|.	0.97110|.	0.974;0.43;0.993;0.832;1.0|.	T|T	0.80211|0.80211	-0.1476|-0.1476	10|5	0.62326|.	D|.	0.03|.	-25.9945|-25.9945	20.6244|20.6244	0.99512|0.99512	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	143;142;127;2879;2878|.	B4DSQ3;Q8WUY3-5;B4DJW7;Q8WUY3-3;Q8WUY3|.	.;.;.;.;PRUN2_HUMAN|.	Y|V	143;2878;2520;96;127;48;143;2878|2199	ENSP00000365907:D143Y;ENSP00000365908:D2878Y;ENSP00000397425:D2520Y;ENSP00000393843:D127Y;ENSP00000393657:D48Y;ENSP00000223609:D143Y|.	ENSP00000223609:D143Y|.	D|G	-|-	1|2	0|0	PRUNE2|PRUNE2	78449571|78449571	0.439000|0.439000	0.25610|0.25610	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	1.867000|1.867000	0.39499|0.39499	2.879000|2.879000	0.98667|0.98667	0.650000|0.650000	0.86243|0.86243	GAC|GGA		0.507	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		11	129	1	0	3.86212e-05	1	4.42752e-05	11	129				
ITGAE	3682	broad.mit.edu	37	17	3664715	3664715	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:3664715C>A	ENST00000263087.4	-	5	513	c.415G>T	c.(415-417)Gcc>Tcc	p.A139S		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	139					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AAGAAGTTGGCCTGAGCCTGG	0.567																																					NSCLC(182;635 2928 8995 38788)	ENST00000263087.4																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(415-417)Gcc>Tcc		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)							69.0	69.0	69.0					17																	3664715		2203	4300	6503	SO:0001583	missense	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3664715C>A	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.415G>T	17.37:g.3664715C>A	ENSP00000263087:p.Ala139Ser		Somatic					p.A139S	NM_002208.4	NP_002199.3	WXS	Illumina GAIIx	Phase_I	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	5	513	-			139					Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	c.415G>T	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.586597	0.28268	.	.	ENSG00000083457	ENST00000263087	D	0.93189	-3.18	3.69	3.69	0.42338	.	.	.	.	.	D	0.86318	0.5904	L	0.34521	1.04	0.09310	N	1	P	0.42827	0.791	B	0.29785	0.107	T	0.79344	-0.1842	9	0.41790	T	0.15	.	11.2127	0.48808	0.0:1.0:0.0:0.0	.	139	P38570	ITAE_HUMAN	S	139	ENSP00000263087:A139S	ENSP00000263087:A139S	A	-	1	0	ITGAE	3611464	0.000000	0.05858	0.015000	0.15790	0.080000	0.17528	0.271000	0.18626	2.358000	0.79984	0.407000	0.27541	GCC		0.567	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		4	62	1	0	0.000602214	1	0.000670738	4	62				
FRMD4A	55691	broad.mit.edu	37	10	13702551	13702551	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:13702551C>A	ENST00000357447.2	-	20	2031	c.1663G>T	c.(1663-1665)Gac>Tac	p.D555Y	FRMD4A_ENST00000358621.4_Missense_Mutation_p.D540Y|FRMD4A_ENST00000378503.1_Missense_Mutation_p.D555Y	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	555					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						ACCTGAGAGTCTTCTGCACAA	0.597											OREG0020030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(1663-1665)Gac>Tac		FERM domain containing 4A							75.0	76.0	76.0					10																	13702551		2203	4300	6503	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13702551C>A	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.1663G>T	10.37:g.13702551C>A	ENSP00000350032:p.Asp555Tyr		Somatic	OREG0020030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	689	FRMD4A_ENST00000378503.1_Missense_Mutation_p.D555Y|FRMD4A_ENST00000358621.4_Missense_Mutation_p.D540Y	p.D555Y	NM_018027.3	NP_060497.3	WXS	Illumina GAIIx	Phase_I	Q9P2Q2	FRM4A_HUMAN			20	2031	-			555					A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.1663G>T	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646771	0.87958	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	D;D;D	0.84223	-1.82;-1.82;-1.82	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.85708	0.5759	L	0.46157	1.445	0.80722	D	1	D	0.54397	0.966	P	0.47430	0.547	D	0.86846	0.2020	10	0.62326	D	0.03	-18.2771	19.6212	0.95656	0.0:1.0:0.0:0.0	.	555	Q9P2Q2	FRM4A_HUMAN	Y	540;555;555	ENSP00000351438:D540Y;ENSP00000350032:D555Y;ENSP00000367764:D555Y	ENSP00000350032:D555Y	D	-	1	0	FRMD4A	13742557	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.440000	0.80464	2.648000	0.89879	0.462000	0.41574	GAC		0.597	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		4	52	1	0	0.00909568	1	0.0097673	4	52				
TRIB2	28951	broad.mit.edu	37	2	12880890	12880890	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:12880890G>A	ENST00000155926.4	+	3	2421	c.1002G>A	c.(1000-1002)atG>atA	p.M334I	TRIB2_ENST00000381465.2_Missense_Mutation_p.M198I	NM_021643.3	NP_067675.1			tribbles pseudokinase 2									p.M334N(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACGTCAACATGGAAGAGAACT	0.512																																						ENST00000155926.4																			2	Substitution - Missense(2)	p.M334N(2)	lung(2)	breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19						c.(1000-1002)atG>atA		tribbles pseudokinase 2							78.0	72.0	74.0					2																	12880890		2203	4300	6503	SO:0001583	missense	28951				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr2:12880890G>A	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000155926.4:c.1002G>A	2.37:g.12880890G>A	ENSP00000155926:p.Met334Ile		Somatic				TRIB2_ENST00000381465.2_Missense_Mutation_p.M198I	p.M334I	NM_021643.3	NP_067675.1	WXS	Illumina GAIIx	Phase_I	Q92519	TRIB2_HUMAN			3	2421	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		334						Missense_Mutation	SNP	ENST00000155926.4	37	c.1002G>A	CCDS1683.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658277	0.47467	.	.	ENSG00000071575	ENST00000155926;ENST00000381465	T;T	0.43688	0.99;0.94	5.94	5.94	0.96194	Protein kinase-like domain (1);	0.034920	0.85682	D	0.000000	T	0.36220	0.0959	L	0.29908	0.895	0.80722	D	1	B	0.14438	0.01	B	0.12837	0.008	T	0.04930	-1.0917	10	0.35671	T	0.21	-38.0385	19.354	0.94404	0.0:0.0:1.0:0.0	.	334	Q92519	TRIB2_HUMAN	I	334;198	ENSP00000155926:M334I;ENSP00000370874:M198I	ENSP00000155926:M334I	M	+	3	0	TRIB2	12798341	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.912000	0.87465	2.820000	0.97059	0.650000	0.86243	ATG		0.512	TRIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207114.2	NM_021643		3	91	0	0	0	1	0	3	91				
C9orf153	389766	broad.mit.edu	37	9	88842305	88842305	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:88842305A>T	ENST00000376001.3	-	4	329	c.249T>A	c.(247-249)aaT>aaA	p.N83K	C9orf153_ENST00000339137.3_Intron|C9orf153_ENST00000469914.1_Intron	NM_001276366.1	NP_001263295.1	Q5TBE3	CI153_HUMAN	chromosome 9 open reading frame 153	83										breast(1)|lung(1)	2						tgtTCATTTTATTGACACTGT	0.323																																						ENST00000376001.3																			0				breast(1)|lung(1)	2						c.(247-249)aaT>aaA		chromosome 9 open reading frame 153							74.0	73.0	74.0					9																	88842305		2203	4299	6502	SO:0001583	missense	389766							g.chr9:88842305A>T		CCDS35055.1, CCDS35055.2	9q22.1	2012-04-03			ENSG00000187753	ENSG00000187753			31456	protein-coding gene	gene with protein product							Standard	NM_001276366		Approved	bA507D14.1	uc031teh.1	Q5TBE3	OTTHUMG00000020134	ENST00000376001.3:c.249T>A	9.37:g.88842305A>T	ENSP00000365169:p.Asn83Lys		Somatic				C9orf153_ENST00000339137.3_Intron|C9orf153_ENST00000469914.1_Intron	p.N83K	NM_001276366.1	NP_001263295.1	WXS	Illumina GAIIx	Phase_I	Q5TBE3	CI153_HUMAN			4	329	-			83					Q5TBE4	Missense_Mutation	SNP	ENST00000376001.3	37	c.249T>A	CCDS35055.1	.	.	.	.	.	.	.	.	.	.	A	3.058	-0.193944	0.06259	.	.	ENSG00000187753	ENST00000376001	.	.	.	1.27	-0.107	0.13592	.	.	.	.	.	T	0.07503	0.0189	N	0.01576	-0.805	0.09310	N	1	D	0.57899	0.981	P	0.45138	0.471	T	0.06516	-1.0822	8	0.07990	T	0.79	-4.8083	3.4106	0.07357	0.7438:0.0:0.2562:0.0	.	83	Q5TBE3	CI153_HUMAN	K	83	.	ENSP00000365169:N83K	N	-	3	2	C9orf153	88032125	.	.	0.007000	0.13788	0.366000	0.29705	.	.	-0.027000	0.13873	0.172000	0.16884	AAT		0.323	C9orf153-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052913.1	NM_001010907		4	81	0	0	0	1	0	4	81				
CST5	1473	broad.mit.edu	37	20	23860131	23860131	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:23860131C>A	ENST00000304710.4	-	1	256	c.183G>T	c.(181-183)aaG>aaT	p.K61N		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	61					negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						AGTACTCATCCTTATTAATGA	0.567																																						ENST00000304710.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						c.(181-183)aaG>aaT		cystatin D							233.0	216.0	222.0					20																	23860131		2203	4300	6503	SO:0001583	missense	1473					extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr20:23860131C>A		CCDS13162.1	20p11.21	2008-04-15			ENSG00000170367	ENSG00000170367			2477	protein-coding gene	gene with protein product		123858				1939105	Standard	NM_001900		Approved		uc002wtr.1	P28325	OTTHUMG00000032089	ENST00000304710.4:c.183G>T	20.37:g.23860131C>A	ENSP00000307132:p.Lys61Asn		Somatic					p.K61N	NM_001900.4	NP_001891.2	WXS	Illumina GAIIx	Phase_I	P28325	CYTD_HUMAN			1	256	-			61					Q5JRF5|Q9UCA0	Missense_Mutation	SNP	ENST00000304710.4	37	c.183G>T	CCDS13162.1	.	.	.	.	.	.	.	.	.	.	c	1.859	-0.463036	0.04476	.	.	ENSG00000170367	ENST00000304710	T	0.09350	2.99	1.87	-3.74	0.04385	Proteinase inhibitor I25, cystatin (2);	0.111914	0.64402	D	0.000015	T	0.02230	0.0069	N	0.01289	-0.905	0.09310	N	1	B	0.11235	0.004	B	0.19946	0.027	T	0.30031	-0.9992	10	0.28530	T	0.3	.	0.7548	0.00997	0.151:0.2041:0.2708:0.374	.	61	P28325	CYTD_HUMAN	N	61	ENSP00000307132:K61N	ENSP00000307132:K61N	K	-	3	2	CST5	23808131	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.466000	0.00994	-1.198000	0.02669	-1.602000	0.00811	AAG		0.567	CST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078355.2	NM_001900		196	1491	1	0	3.06722e-38	1	4.4227e-38	196	1491				
FRAS1	80144	broad.mit.edu	37	4	79293949	79293949	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:79293949C>A	ENST00000325942.6	+	24	3387	c.2947C>A	c.(2947-2949)Cag>Aag	p.Q983K	FRAS1_ENST00000264895.6_Missense_Mutation_p.Q983K	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	983					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTATGTTCTCCAGGATGGGGC	0.527																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(2947-2949)Cag>Aag		Fraser syndrome 1							132.0	135.0	134.0					4																	79293949		2010	4175	6185	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79293949C>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.2947C>A	4.37:g.79293949C>A	ENSP00000326330:p.Gln983Lys		Somatic				FRAS1_ENST00000325942.6_Missense_Mutation_p.Q983K	p.Q983K	NM_025074.6	NP_079350.5	WXS	Illumina GAIIx	Phase_I	Q86XX4	FRAS1_HUMAN			24	3387	+			983					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.2947C>A	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.913821	0.52439	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	T;T	0.75477	-0.94;-0.94	5.82	5.82	0.92795	.	0.061203	0.64402	D	0.000002	T	0.73071	0.3540	L	0.41124	1.26	0.80722	D	1	P;P	0.43885	0.749;0.82	B;B	0.43867	0.434;0.4	T	0.74460	-0.3658	10	0.54805	T	0.06	.	20.0801	0.97769	0.0:1.0:0.0:0.0	.	983;983	E9PHH6;A2RRR8	.;.	K	983	ENSP00000326330:Q983K;ENSP00000264895:Q983K	ENSP00000264895:Q983K	Q	+	1	0	FRAS1	79512973	1.000000	0.71417	0.992000	0.48379	0.043000	0.13939	7.237000	0.78164	2.733000	0.93635	0.655000	0.94253	CAG		0.527	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			130	1125	1	0	1.90545e-35	1	2.73976e-35	130	1125				
CLDN2	9075	broad.mit.edu	37	X	106146393	106146393	+	Intron	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:106146393G>A	ENST00000541806.1	+	1	341				RIPPLY1_ENST00000276173.4_Missense_Mutation_p.S42F|RIPPLY1_ENST00000411805.1_Missense_Mutation_p.S42F	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2						calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TTGTCCAGAGGAGAGAAGGCA	0.537																																						ENST00000276173.4																			0				lung(1)|urinary_tract(1)	2						c.(124-126)tCc>tTc		ripply transcriptional repressor 1							44.0	47.0	46.0					X																	106146393		2013	4161	6174	SO:0001627	intron_variant	92129				negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent	nucleus		g.chrX:106146393G>A	AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"""Claudins"""	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.-179+2659G>A	X.37:g.106146393G>A			Somatic				RIPPLY1_ENST00000411805.1_Missense_Mutation_p.S42F|CLDN2_ENST00000541806.1_Intron	p.S42F	NM_138382.2	NP_612391.1	WXS	Illumina GAIIx	Phase_I	Q0D2K3	RIPP1_HUMAN			1	154	-			42					B2R6B9	Missense_Mutation	SNP	ENST00000541806.1	37	c.125C>T	CCDS14524.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.744778	0.30865	.	.	ENSG00000147223	ENST00000276173;ENST00000411805	.	.	.	4.28	0.222	0.15288	.	2.739850	0.01374	N	0.012666	T	0.36635	0.0974	L	0.47716	1.5	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.003	T	0.22312	-1.0220	9	0.59425	D	0.04	.	3.3028	0.06989	0.4257:0.2099:0.3644:0.0	.	42;42	Q0D2K3-2;Q0D2K3	.;RIPP1_HUMAN	F	42	.	ENSP00000276173:S42F	S	-	2	0	RIPPLY1	106033049	0.067000	0.21026	0.001000	0.08648	0.413000	0.31143	0.427000	0.21379	-0.086000	0.12550	0.600000	0.82982	TCC		0.537	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057815.1			6	55	0	0	0	1	0	6	55				
CSNK1A1	1452	broad.mit.edu	37	5	148904736	148904736	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:148904736T>A	ENST00000377843.2	-	3	710		c.e3-2		CSNK1A1_ENST00000261798.5_Splice_Site|CSNK1A1_ENST00000515435.1_Splice_Site|CSNK1A1_ENST00000515768.1_Splice_Site|CSNK1A1_ENST00000504676.1_Splice_Site	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1						cell surface receptor signaling pathway (GO:0007166)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		CCATACCACCTAACGAAACAA	0.353																																					Colon(5;64 69 1309 10383)	ENST00000261798.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14						c.e3-2		casein kinase 1, alpha 1							52.0	50.0	51.0					5																	148904736		2133	4270	6403	SO:0001630	splice_region_variant	1452				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr5:148904736T>A	AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712			2451	protein-coding gene	gene with protein product	"""clock regulator kinase"""	600505				8050587	Standard	NM_001025105		Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000377843.2:c.231-2A>T	5.37:g.148904736T>A			Somatic				CSNK1A1_ENST00000504676.1_Splice_Site|CSNK1A1_ENST00000515768.1_Splice_Site|CSNK1A1_ENST00000515435.1_Splice_Site|CSNK1A1_ENST00000377843.2_Splice_Site		NM_001271741.1	NP_001258670.1	WXS	Illumina GAIIx	Phase_I	P48729	KC1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	3	663	-								D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q71TU5|Q96HD2|Q9UDK3	Splice_Site	SNP	ENST00000377843.2	37		CCDS47303.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.622349	0.87460	.	.	ENSG00000113712	ENST00000261798;ENST00000377843;ENST00000322237;ENST00000515768	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9698	0.80004	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSNK1A1	148884929	1.000000	0.71417	0.995000	0.50966	0.931000	0.56810	8.040000	0.89188	2.183000	0.69458	0.533000	0.62120	.		0.353	CSNK1A1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001892	Intron	3	34	0	0	0	1	0	3	34				
NOL6	65083	broad.mit.edu	37	9	33463388	33463388	+	Missense_Mutation	SNP	G	G	T	rs533529372		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:33463388G>T	ENST00000455041.2	-	23	2949	c.2890C>A	c.(2890-2892)Cct>Act	p.P964T	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000379471.2_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	1016					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ATATGGCGAGGAGACAGGCGA	0.652													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17248	0.0		0.0	False		,,,				2504	0.0					ENST00000455041.2																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(2890-2892)Cct>Act		nucleolar protein 6 (RNA-associated)							51.0	50.0	50.0					9																	33463388		2203	4300	6503	SO:0001583	missense	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33463388G>T	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000455041.2:c.2890C>A	9.37:g.33463388G>T	ENSP00000395915:p.Pro964Thr		Somatic				NOL6_ENST00000464829.1_Intron|NOL6_ENST00000379471.2_Intron	p.P964T			WXS	Illumina GAIIx	Phase_I	Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	23	2949	-			1016					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000455041.2	37	c.2890C>A		.	.	.	.	.	.	.	.	.	.	G	14.34	2.506260	0.44558	.	.	ENSG00000165271	ENST00000379470;ENST00000297990;ENST00000541373;ENST00000455041	T;T;T	0.42513	0.97;0.97;0.97	5.67	1.41	0.22369	.	0.164072	0.53938	D	0.000045	T	0.33059	0.0850	L	0.35854	1.095	0.80722	D	1	P;P;P	0.42010	0.768;0.51;0.565	B;B;B	0.42882	0.401;0.279;0.401	T	0.05835	-1.0861	10	0.30854	T	0.27	.	11.0489	0.47876	0.0676:0.3615:0.5709:0.0	.	964;1013;1016	B4DF80;Q9H6R4-4;Q9H6R4	.;.;NOL6_HUMAN	T	70;1016;572;964	ENSP00000368783:P70T;ENSP00000297990:P1016T;ENSP00000395915:P964T	ENSP00000297990:P1016T	P	-	1	0	NOL6	33453388	1.000000	0.71417	1.000000	0.80357	0.236000	0.25371	2.145000	0.42207	0.681000	0.31386	0.561000	0.74099	CCT		0.652	NOL6-201	KNOWN	basic	protein_coding	protein_coding		NM_022917		7	82	1	0	7.48243e-07	1	9.08963e-07	7	82				
OR2L2	26246	broad.mit.edu	37	1	248201694	248201694	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:248201694T>C	ENST00000366479.2	+	1	221	c.125T>C	c.(124-126)cTa>cCa	p.L42P	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATTGGAAATCTATCCATGATT	0.393																																						ENST00000366479.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(124-126)cTa>cCa		olfactory receptor, family 2, subfamily L, member 2							246.0	233.0	237.0					1																	248201694		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248201694T>C	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.125T>C	1.37:g.248201694T>C	ENSP00000355435:p.Leu42Pro		Somatic				OR2L13_ENST00000366478.2_Intron	p.L42P	NM_001004686.2	NP_001004686.1	WXS	Illumina GAIIx	Phase_I	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	221	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		42					Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.125T>C	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	12.22	1.872718	0.33069	.	.	ENSG00000203663	ENST00000366479	T	0.03035	4.07	2.09	0.815	0.18763	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.07593	0.0191	M	0.74389	2.26	0.20307	N	0.999916	P	0.46859	0.885	P	0.48901	0.594	T	0.26121	-1.0112	9	0.56958	D	0.05	.	2.7328	0.05232	0.2226:0.1493:0.0:0.6282	.	42	Q8NH16	OR2L2_HUMAN	P	42	ENSP00000355435:L42P	ENSP00000355435:L42P	L	+	2	0	OR2L2	246268317	0.000000	0.05858	0.081000	0.20488	0.313000	0.28021	0.709000	0.25734	0.842000	0.35045	0.163000	0.16589	CTA		0.393	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		6	606	0	0	0	1	0	6	606				
PTPRJ	5795	broad.mit.edu	37	11	48145387	48145387	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:48145387C>T	ENST00000418331.2	+	5	1191	c.839C>T	c.(838-840)aCa>aTa	p.T280I	PTPRJ_ENST00000440289.2_Missense_Mutation_p.T280I	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	280	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TCAAATAAGACAAAGGGAGAC	0.458																																						ENST00000418331.2																			0				breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(838-840)aCa>aTa		protein tyrosine phosphatase, receptor type, J							68.0	65.0	66.0					11																	48145387		2201	4298	6499	SO:0001583	missense	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48145387C>T	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.839C>T	11.37:g.48145387C>T	ENSP00000400010:p.Thr280Ile		Somatic				PTPRJ_ENST00000440289.2_Missense_Mutation_p.T280I	p.T280I	NM_002843.3	NP_002834.3	WXS	Illumina GAIIx	Phase_I	Q12913	PTPRJ_HUMAN			5	1191	+			280			Fibronectin type-III 2.|Fibronectin type-III 3.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	c.839C>T	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.518127	0.64634	.	.	ENSG00000149177	ENST00000278456;ENST00000418331;ENST00000440289	T;T	0.38401	2.42;1.14	5.84	4.92	0.64577	Fibronectin, type III (2);	.	.	.	.	T	0.43875	0.1267	L	0.29908	0.895	0.09310	N	1	P;D	0.65815	0.948;0.995	P;P	0.59487	0.467;0.858	T	0.30031	-0.9992	9	0.59425	D	0.04	.	12.4351	0.55595	0.1782:0.8218:0.0:0.0	.	280;280	Q12913;Q6P4H4	PTPRJ_HUMAN;.	I	280	ENSP00000400010:T280I;ENSP00000409733:T280I	ENSP00000278456:T280I	T	+	2	0	PTPRJ	48101963	0.001000	0.12720	0.010000	0.14722	0.004000	0.04260	1.105000	0.31086	1.579000	0.49836	0.650000	0.86243	ACA		0.458	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			14	229	0	0	0	1	0	14	229				
ZNF780B	163131	broad.mit.edu	37	19	40540772	40540772	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:40540772C>T	ENST00000434248.1	-	5	2059	c.1994G>A	c.(1993-1995)gGt>gAt	p.G665D	ZNF780B_ENST00000221355.6_Missense_Mutation_p.G517D	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	665					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)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGGTTTTACACCAGCATGAAT	0.388																																						ENST00000434248.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(1993-1995)gGt>gAt		zinc finger protein 780B							151.0	164.0	159.0					19																	40540772		2199	4297	6496	SO:0001583	missense	163131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40540772C>T	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.1994G>A	19.37:g.40540772C>T	ENSP00000391641:p.Gly665Asp		Somatic				ZNF780B_ENST00000221355.6_Missense_Mutation_p.G517D	p.G665D	NM_001005851.2	NP_001005851.1	WXS	Illumina GAIIx	Phase_I	Q9Y6R6	Z780B_HUMAN			5	2059	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		665					B9EH00	Missense_Mutation	SNP	ENST00000434248.1	37	c.1994G>A	CCDS46077.1	.	.	.	.	.	.	.	.	.	.	c	22.1	4.250269	0.80024	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.20463	2.07;2.07	2.56	1.45	0.22620	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41442	0.1159	M	0.73753	2.245	0.32045	N	0.59775	D	0.89917	1.0	D	0.97110	1.0	T	0.48068	-0.9067	9	0.72032	D	0.01	.	7.3141	0.26491	0.0:0.8534:0.0:0.1466	.	665	Q9Y6R6	Z780B_HUMAN	D	665;517	ENSP00000391641:G665D;ENSP00000221355:G517D	ENSP00000221355:G517D	G	-	2	0	ZNF780B	45232612	0.000000	0.05858	0.017000	0.16124	0.973000	0.67179	-0.113000	0.10774	0.245000	0.21373	0.462000	0.41574	GGT		0.388	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		6	378	0	0	0	1	0	6	378				
SALL4	57167	broad.mit.edu	37	20	50405564	50405564	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:50405564C>A	ENST00000217086.4	-	3	2689	c.2578G>T	c.(2578-2580)Gca>Tca	p.A860S	SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Missense_Mutation_p.A83S|SALL4_ENST00000395997.3_Missense_Mutation_p.A423S	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	860					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						GGCTGGGCTGCTAACAAAGGG	0.577																																						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.(2578-2580)Gca>Tca		spalt-like transcription factor 4							55.0	50.0	51.0					20																	50405564		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50405564C>A	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.2578G>T	20.37:g.50405564C>A	ENSP00000217086:p.Ala860Ser		Somatic				SALL4_ENST00000395997.3_Missense_Mutation_p.A423S|SALL4_ENST00000371539.3_Missense_Mutation_p.A83S	p.A860S	NM_020436.3	NP_065169.1	WXS	Illumina GAIIx	Phase_I	Q9UJQ4	SALL4_HUMAN			3	2689	-			860					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.2578G>T	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	C	8.982	0.975622	0.18736	.	.	ENSG00000101115	ENST00000217086;ENST00000395997;ENST00000371539	T;T;T	0.09538	2.97;3.24;3.25	5.73	2.71	0.32032	.	0.528859	0.15949	N	0.236835	T	0.08447	0.0210	L	0.42686	1.345	0.09310	N	0.999999	B;B;B	0.33964	0.008;0.278;0.434	B;B;B	0.26202	0.002;0.057;0.067	T	0.26018	-1.0115	10	0.33940	T	0.23	-5.23	8.4011	0.32586	0.127:0.7393:0.0:0.1337	.	423;83;860	A2A2D8;Q6Y8G5;Q9UJQ4	.;.;SALL4_HUMAN	S	860;423;83	ENSP00000217086:A860S;ENSP00000379319:A423S;ENSP00000360594:A83S	ENSP00000217086:A860S	A	-	1	0	SALL4	49838971	0.000000	0.05858	0.000000	0.03702	0.498000	0.33706	0.500000	0.22562	0.333000	0.23563	0.655000	0.94253	GCA		0.577	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			11	304	1	0	3.32936e-07	1	4.07366e-07	11	304				
PNPLA7	375775	broad.mit.edu	37	9	140357192	140357192	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:140357192A>T	ENST00000277531.4	-	29	3548	c.3362T>A	c.(3361-3363)cTg>cAg	p.L1121Q	PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000406427.1_Missense_Mutation_p.L1146Q|PNPLA7_ENST00000371457.1_Missense_Mutation_p.L727Q	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1121					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CCACCCAGACAGCGCATCCCC	0.637																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(3436-3438)cTg>cAg		patatin-like phospholipase domain containing 7							171.0	123.0	139.0					9																	140357192		2203	4300	6503	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140357192A>T	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.3362T>A	9.37:g.140357192A>T	ENSP00000277531:p.Leu1121Gln		Somatic				PNPLA7_ENST00000277531.4_Missense_Mutation_p.L1121Q|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Missense_Mutation_p.L727Q	p.L1146Q	NM_001098537.1	NP_001092007.1	WXS	Illumina GAIIx	Phase_I	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	30	3773	-	all_cancers(76;0.126)		1121					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.3437T>A	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.175429	0.57692	.	.	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34	4.54	4.54	0.55810	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.000000	0.64402	D	0.000002	D	0.91395	0.7285	M	0.93062	3.375	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.992;1.0;0.999;0.98	D	0.93270	0.6651	10	0.87932	D	0	-17.8996	13.3519	0.60607	1.0:0.0:0.0:0.0	.	529;1146;1121;387	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	Q	727;529;1121;1146;1121;1112	ENSP00000360512:L727Q;ENSP00000360501:L529Q;ENSP00000277531:L1121Q;ENSP00000384610:L1146Q;ENSP00000400582:L1112Q	ENSP00000277531:L1121Q	L	-	2	0	PNPLA7	139477013	1.000000	0.71417	0.671000	0.29857	0.099000	0.18886	7.302000	0.78861	1.815000	0.52974	0.448000	0.29417	CTG		0.637	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		2	4	0	0	0	1	0	2	4				
NAV2	89797	broad.mit.edu	37	11	20089905	20089905	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:20089905G>A	ENST00000396087.3	+	24	5211	c.5112G>A	c.(5110-5112)caG>caA	p.Q1704Q	NAV2_ENST00000360655.4_Silent_p.Q1584Q|NAV2_ENST00000349880.4_Silent_p.Q1648Q|NAV2_ENST00000540292.1_Silent_p.Q1635Q|NAV2_ENST00000396085.1_Silent_p.Q1648Q|NAV2_ENST00000533917.1_Silent_p.Q712Q|NAV2_ENST00000311043.8_Silent_p.Q712Q|NAV2_ENST00000527559.2_Silent_p.Q1633Q	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1704					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ATGCCTCCCAGGAGAAAGTTT	0.517																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(4942-4944)caG>caA		neuron navigator 2							103.0	102.0	102.0					11																	20089905		2203	4300	6503	SO:0001819	synonymous_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:20089905G>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5112G>A	11.37:g.20089905G>A			Somatic				NAV2_ENST00000540292.1_Silent_p.Q1635Q|NAV2_ENST00000311043.8_Silent_p.Q712Q|NAV2_ENST00000349880.4_Silent_p.Q1648Q|NAV2_ENST00000533917.1_Silent_p.Q712Q|NAV2_ENST00000527559.2_Silent_p.Q1633Q|NAV2_ENST00000360655.4_Silent_p.Q1584Q|NAV2_ENST00000396087.3_Silent_p.Q1704Q	p.Q1648Q	NM_182964.5	NP_892009.3	WXS	Illumina GAIIx	Phase_I	Q8IVL1	NAV2_HUMAN			22	5305	+			1704			Ser-rich.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	c.4944G>A	CCDS58126.1																																																																																				0.517	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		29	87	0	0	0	1	0	29	87				
CCDC18	343099	broad.mit.edu	37	1	93691888	93691888	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:93691888A>T	ENST00000343253.7	+	17	2674		c.e17-1		CCDC18_ENST00000338949.4_Splice_Site|CCDC18_ENST00000557479.1_Splice_Site|CCDC18_ENST00000421014.2_Splice_Site|CCDC18_ENST00000334652.5_Splice_Site|CCDC18_ENST00000401026.3_Splice_Site			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18											breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TTTCCTGCTTAGGTTAGGCAA	0.299																																						ENST00000343253.7																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.e17-1		coiled-coil domain containing 18							48.0	45.0	46.0					1																	93691888		1792	4044	5836	SO:0001630	splice_region_variant	343099							g.chr1:93691888A>T			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.2173-1A>T	1.37:g.93691888A>T			Somatic				CCDC18_ENST00000421014.2_Splice_Site|CCDC18_ENST00000334652.5_Splice_Site|CCDC18_ENST00000557479.1_Splice_Site|CCDC18_ENST00000338949.4_Splice_Site|CCDC18_ENST00000401026.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	17	2674	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)						Q6ZU17	Splice_Site	SNP	ENST00000343253.7	37			.	.	.	.	.	.	.	.	.	.	A	15.47	2.842033	0.51057	.	.	ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000334652;ENST00000370276;ENST00000455267	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4215	0.75015	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC18	93464476	1.000000	0.71417	0.993000	0.49108	0.569000	0.35902	6.579000	0.74036	2.086000	0.62901	0.528000	0.53228	.		0.299	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886	Intron	4	74	0	0	0	1	0	4	74				
RASAL2	9462	broad.mit.edu	37	1	178426848	178426848	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:178426848G>A	ENST00000462775.1	+	12	2123	c.1998G>A	c.(1996-1998)caG>caA	p.Q666Q	RASAL2_ENST00000367649.3_Silent_p.Q807Q|RASAL2_ENST00000448150.3_Silent_p.Q796Q	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	666					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CTCCAAGCCAGGACAACACAG	0.408																																						ENST00000448150.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2386-2388)caG>caA		RAS protein activator like 2							86.0	79.0	81.0					1																	178426848		2203	4300	6503	SO:0001819	synonymous_variant	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178426848G>A	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.1998G>A	1.37:g.178426848G>A			Somatic				RASAL2_ENST00000462775.1_Silent_p.Q666Q|RASAL2_ENST00000367649.3_Silent_p.Q807Q	p.Q796Q	NM_170692.2	NP_733793.2	WXS	Illumina GAIIx	Phase_I	Q9UJF2	NGAP_HUMAN			14	3206	+			666					F8W755|O95174|Q2TB22|Q5TFU9	Silent	SNP	ENST00000462775.1	37	c.2388G>A	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	G	3.827	-0.036648	0.07497	.	.	ENSG00000075391	ENST00000433130	.	.	.	5.4	2.51	0.30379	.	.	.	.	.	T	0.51890	0.1701	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42965	-0.9420	4	.	.	.	.	4.7851	0.13222	0.2893:0.0:0.5685:0.1422	.	.	.	.	R	217	.	.	G	+	1	0	RASAL2	176693471	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.513000	0.22770	0.770000	0.33336	-0.137000	0.14449	GGA		0.408	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		6	91	0	0	0	1	0	6	91				
RET	5979	broad.mit.edu	37	10	43604483	43604483	+	Silent	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:43604483G>T	ENST00000355710.3	+	6	1300	c.1068G>T	c.(1066-1068)ctG>ctT	p.L356L	RET_ENST00000340058.5_Silent_p.L356L	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	356					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CTGCAGGGCTGGTTCTCAACC	0.602		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(1066-1068)ctG>ctT		ret proto-oncogene	Sunitinib(DB01268)						83.0	70.0	74.0					10																	43604483		2203	4300	6503	SO:0001819	synonymous_variant	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43604483G>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1068G>T	10.37:g.43604483G>T			Somatic				RET_ENST00000340058.5_Silent_p.L356L	p.L356L	NM_020975.4	NP_066124.1	WXS	Illumina GAIIx	Phase_I	P07949	RET_HUMAN			6	1300	+		Ovarian(717;0.0423)	356					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	c.1068G>T	CCDS7200.1																																																																																				0.602	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		13	73	1	0	4.93089e-13	1	6.58746e-13	13	73				
KCNMA1	3778	broad.mit.edu	37	10	78674724	78674724	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:78674724C>T	ENST00000286628.8	-	24	2985	c.2986G>A	c.(2986-2988)Ggg>Agg	p.G996R	RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.G938R|KCNMA1_ENST00000406533.3_Missense_Mutation_p.G1000R|KCNMA1_ENST00000286627.5_Missense_Mutation_p.G938R|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.G938R|KCNMA1_ENST00000404857.1_Missense_Mutation_p.G979R|KCNMA1_ENST00000354353.5_Missense_Mutation_p.G999R|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.G996R	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	996					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	ATGTTGACCCCAGTTGTGATG	0.488																																						ENST00000286627.5																			0				breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(2812-2814)Ggg>Agg		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						301.0	270.0	281.0					10																	78674724		2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78674724C>T	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.2986G>A	10.37:g.78674724C>T	ENSP00000286628:p.Gly996Arg		Somatic				KCNMA1_ENST00000404857.1_Missense_Mutation_p.G979R|KCNMA1_ENST00000404771.3_Missense_Mutation_p.G996R|KCNMA1_ENST00000354353.5_Missense_Mutation_p.G999R|KCNMA1_ENST00000372440.1_Missense_Mutation_p.G938R|KCNMA1_ENST00000406533.3_Missense_Mutation_p.G1000R|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000286628.8_Missense_Mutation_p.G996R|RP11-443A13.5_ENST00000426234.1_RNA|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.G938R	p.G938R	NM_002247.3	NP_002238.2	WXS	Illumina GAIIx	Phase_I	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		23	3764	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		996					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.2812G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.239779|5.239779	0.95240|0.95240	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372421;ENST00000434208	T;T;T;T;T;T;T;T;T|.	0.62941|.	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01|.	6.02|6.02	6.02|6.02	0.97574|0.97574	NAD(P)-binding domain (1);|.	0.045665|.	0.85682|.	D|.	0.000000|.	T|.	0.78317|.	0.4264|.	M|M	0.74647|0.74647	2.275|2.275	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;0.999;1.0;1.0;1.0;0.999;1.0;0.999|.	D;D;D;D;D;D;D;D|.	0.97110|.	1.0;0.99;0.996;1.0;0.996;0.99;0.993;0.969|.	T|.	0.75731|.	-0.3215|.	10|.	0.87932|.	D|.	0|.	-11.7933|-11.7933	20.5269|20.5269	0.99230|0.99230	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	967;941;979;996;938;749;999;938|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.	R|X	938;875;931;970;933;938;938;970;1000;999;979;749|926;645	ENSP00000361517:G938R;ENSP00000361485:G875R;ENSP00000361514:G931R;ENSP00000396608:G970R;ENSP00000361520:G938R;ENSP00000286627:G938R;ENSP00000385552:G1000R;ENSP00000346321:G999R;ENSP00000385806:G979R|.	ENSP00000286627:G938R|.	G|W	-|-	1|2	0|0	KCNMA1|KCNMA1	78344730|78344730	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.975000|0.975000	0.68041|0.68041	7.442000|7.442000	0.80503|0.80503	2.859000|2.859000	0.98148|0.98148	0.591000|0.591000	0.81541|0.81541	GGG|TGG		0.488	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		15	936	0	0	0	1	0	15	936				
PKD2L1	9033	broad.mit.edu	37	10	102058505	102058505	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:102058505T>C	ENST00000318222.3	-	4	927	c.545A>G	c.(544-546)cAt>cGt	p.H182R	PKD2L1_ENST00000338519.3_Missense_Mutation_p.H182R|PKD2L1_ENST00000353274.3_Missense_Mutation_p.H182R	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	182					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GTGGGAGCCATGGCCCAGGCT	0.547																																						ENST00000318222.3																			0				NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(544-546)cAt>cGt		polycystic kidney disease 2-like 1							78.0	79.0	79.0					10																	102058505		2203	4300	6503	SO:0001583	missense	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102058505T>C	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.545A>G	10.37:g.102058505T>C	ENSP00000325296:p.His182Arg		Somatic				PKD2L1_ENST00000338519.3_Missense_Mutation_p.H182R|PKD2L1_ENST00000353274.3_Missense_Mutation_p.H182R	p.H182R	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	WXS	Illumina GAIIx	Phase_I	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	4	927	-		Colorectal(252;0.117)	182					O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	c.545A>G	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	T	8.843	0.942698	0.18281	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.68624	-0.34;-0.34;-0.34	5.43	0.427	0.16489	Polycystin cation channel, PKD1/PKD2 (1);	0.820455	0.11455	N	0.562419	T	0.51736	0.1692	L	0.40543	1.245	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.12837	0.003;0.008	T	0.34229	-0.9837	10	0.10902	T	0.67	0.0385	9.4619	0.38789	0.0:0.253:0.0:0.747	.	135;182	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	R	182	ENSP00000345068:H182R;ENSP00000266049:H182R;ENSP00000325296:H182R	ENSP00000325296:H182R	H	-	2	0	PKD2L1	102048495	0.000000	0.05858	0.014000	0.15608	0.953000	0.61014	-0.229000	0.09098	-0.159000	0.11021	0.459000	0.35465	CAT		0.547	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		9	164	0	0	0	1	0	9	164				
ABCC1	4363	broad.mit.edu	37	16	16162137	16162137	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:16162137T>C	ENST00000399410.3	+	13	1977	c.1802T>C	c.(1801-1803)aTg>aCg	p.M601T	ABCC1_ENST00000345148.5_Missense_Mutation_p.M601T|ABCC1_ENST00000351154.5_Missense_Mutation_p.M601T|ABCC1_ENST00000346370.5_Missense_Mutation_p.M601T|ABCC1_ENST00000399408.2_Missense_Mutation_p.M601T|ABCC1_ENST00000349029.5_Missense_Mutation_p.M601T	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	601	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)	ATTCTCCCCATGGTCATCAGC	0.577																																						ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(1801-1803)aTg>aCg		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						186.0	171.0	175.0					16																	16162137		2054	4195	6249	SO:0001583	missense	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.chr16:16162137T>C	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.1802T>C	16.37:g.16162137T>C	ENSP00000382342:p.Met601Thr		Somatic				ABCC1_ENST00000349029.5_Missense_Mutation_p.M601T|ABCC1_ENST00000346370.5_Missense_Mutation_p.M601T|ABCC1_ENST00000399410.3_Missense_Mutation_p.M601T|ABCC1_ENST00000351154.5_Missense_Mutation_p.M601T|ABCC1_ENST00000345148.5_Missense_Mutation_p.M601T	p.M601T			WXS	Illumina GAIIx	Phase_I	P33527	MRP1_HUMAN			13	1977	+			601			ABC transmembrane type-1 1.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.1802T>C	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	T	19.81	3.897479	0.72639	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23	4.61	4.61	0.57282	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.078123	0.85682	D	0.000000	T	0.29423	0.0733	L	0.31926	0.97	0.58432	D	0.999993	D;B;B;D;B;B	0.63046	0.992;0.409;0.38;0.983;0.159;0.246	D;B;B;P;B;B	0.71656	0.974;0.139;0.197;0.79;0.14;0.272	T	0.03325	-1.1048	10	0.72032	D	0.01	-38.181	12.8427	0.57813	0.0:0.0:0.0:1.0	.	601;601;601;601;601;601	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	T	601;601;601;601;601;601;275	ENSP00000382342:M601T;ENSP00000382340:M601T;ENSP00000263019:M601T;ENSP00000263017:M601T;ENSP00000263014:M601T;ENSP00000263016:M601T	ENSP00000263014:M601T	M	+	2	0	ABCC1	16069638	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.790000	0.62453	1.714000	0.51371	0.379000	0.24179	ATG		0.577	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		7	499	0	0	0	1	0	7	499				
RAB2B	84932	broad.mit.edu	37	14	21931904	21931904	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:21931904C>T	ENST00000397762.1	-	6	485	c.385G>A	c.(385-387)Gtg>Atg	p.V129M	RAB2B_ENST00000461909.1_5'UTR	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family	129					positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		TCTCTCTTCACATCCCTGCGG	0.398																																					Melanoma(131;1007 1750 28652 34486 42672)	ENST00000397762.1																			0				NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6						c.(385-387)Gtg>Atg		RAB2B, member RAS oncogene family							121.0	111.0	114.0					14																	21931904		2203	4300	6503	SO:0001583	missense	84932				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|plasma membrane	GTP binding	g.chr14:21931904C>T	AK027730	CCDS9570.1	14q11.1	2006-12-18			ENSG00000129472	ENSG00000129472		"""RAB, member RAS oncogene"""	20246	protein-coding gene	gene with protein product		607466				12376746	Standard	NM_032846		Approved	FLJ14824	uc010tlt.2	Q8WUD1	OTTHUMG00000029693	ENST00000397762.1:c.385G>A	14.37:g.21931904C>T	ENSP00000380869:p.Val129Met		Somatic				RAB2B_ENST00000461909.1_5'UTR	p.V129M	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	WXS	Illumina GAIIx	Phase_I	Q8WUD1	RAB2B_HUMAN	Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)	6	485	-	all_cancers(95;0.000858)		129					B2RD03|D3DS24|Q6NZ33	Missense_Mutation	SNP	ENST00000397762.1	37	c.385G>A	CCDS9570.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619799	0.87460	.	.	ENSG00000129472	ENST00000397762;ENST00000304034	D	0.83914	-1.78	5.86	4.98	0.66077	Small GTP-binding protein domain (1);	0.104741	0.41001	D	0.000969	D	0.93494	0.7924	H	0.95574	3.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.95069	0.8202	10	0.87932	D	0	.	14.0368	0.64649	0.0:0.9262:0.0:0.0738	.	129;83;64	Q8WUD1;B4DUD4;Q6NZ33	RAB2B_HUMAN;.;.	M	129	ENSP00000380869:V129M	ENSP00000302005:V129M	V	-	1	0	RAB2B	21001744	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.549000	0.67261	1.483000	0.48342	0.655000	0.94253	GTG		0.398	RAB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074053.4			4	112	0	0	0	1	0	4	112				
ASTN1	460	broad.mit.edu	37	1	176983950	176983950	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:176983950C>T	ENST00000367654.3	-	8	1735	c.1524G>A	c.(1522-1524)cgG>cgA	p.R508R	ASTN1_ENST00000367657.3_Silent_p.R500R|ASTN1_ENST00000361833.2_Silent_p.R500R|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.R500R	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	508					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.R500R(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCCATTCGTTCCGAATGCAAA	0.488																																						ENST00000367654.2																			1	Substitution - coding silent(1)	p.R500R(1)	breast(1)	NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(1522-1524)cgG>cgA		astrotactin 1							484.0	416.0	439.0					1																	176983950		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176983950C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1524G>A	1.37:g.176983950C>T			Somatic				ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.R500R|ASTN1_ENST00000424564.2_Silent_p.R500R|ASTN1_ENST00000361833.2_Silent_p.R500R	p.R508R			WXS	Illumina GAIIx	Phase_I	O14525	ASTN1_HUMAN			8	1537	-			508					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.1524G>A																																																																																					0.488	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		19	2169	0	0	0	1	0	19	2169				
CCNA1	8900	broad.mit.edu	37	13	37015253	37015253	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr13:37015253A>T	ENST00000255465.4	+	7	1362		c.e7-1		CCNA1_ENST00000449823.1_Splice_Site|CCNA1_ENST00000418263.1_Splice_Site|CCNA1_ENST00000440264.1_Splice_Site			P78396	CCNA1_HUMAN	cyclin A1						G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TCTTGTGCTTAGTACGTAGCA	0.393																																						ENST00000418263.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35						c.e7-1		cyclin A1							126.0	105.0	112.0					13																	37015253		2203	4300	6503	SO:0001630	splice_region_variant	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37015253A>T	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.1099-1A>T	13.37:g.37015253A>T			Somatic				CCNA1_ENST00000255465.4_Splice_Site|CCNA1_ENST00000440264.1_Splice_Site|CCNA1_ENST00000449823.1_Splice_Site		NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	WXS	Illumina GAIIx	Phase_I	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	7	1445	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)						B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Splice_Site	SNP	ENST00000255465.4	37		CCDS9357.1	.	.	.	.	.	.	.	.	.	.	A	19.75	3.886322	0.72410	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3319	0.74219	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCNA1	35913253	1.000000	0.71417	0.988000	0.46212	0.833000	0.47200	8.941000	0.92964	2.076000	0.62316	0.460000	0.39030	.		0.393	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914	Intron	4	129	0	0	0	1	0	4	129				
KRT84	3890	broad.mit.edu	37	12	52779044	52779044	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:52779044G>T	ENST00000257951.3	-	1	392	c.326C>A	c.(325-327)gCt>gAt	p.A109D	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	109	Head.				hair follicle development (GO:0001942)|nail development (GO:0035878)|regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of epidermis (GO:0030280)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCACTGCCAGCTCCAAAGCC	0.587																																						ENST00000257951.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27						c.(325-327)gCt>gAt		keratin 84							184.0	172.0	176.0					12																	52779044		2203	4300	6503	SO:0001583	missense	3890					keratin filament	structural constituent of epidermis	g.chr12:52779044G>T	Y19209	CCDS8825.1	12q13	2013-06-25	2006-07-17	2006-07-17	ENSG00000161849	ENSG00000161849		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6461	protein-coding gene	gene with protein product	"""hard keratin type II 4"""	602766	"""keratin, hair, basic, 4"""	KRTHB4		2431943, 16831889	Standard	NM_033045		Approved	Hb-4	uc001sah.1	Q9NSB2	OTTHUMG00000169634	ENST00000257951.3:c.326C>A	12.37:g.52779044G>T	ENSP00000257951:p.Ala109Asp		Somatic				RP3-416H24.4_ENST00000547174.1_RNA	p.A109D	NM_033045.3	NP_149034.2	WXS	Illumina GAIIx	Phase_I	Q9NSB2	KRT84_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	392	-	all_hematologic(5;0.12)		109			Head.		B2RA43|Q6ISB0|Q701L6	Missense_Mutation	SNP	ENST00000257951.3	37	c.326C>A	CCDS8825.1	.	.	.	.	.	.	.	.	.	.	G	9.533	1.111236	0.20714	.	.	ENSG00000161849	ENST00000257951	T	0.80994	-1.44	5.01	0.819	0.18785	.	0.424250	0.20257	N	0.095955	T	0.62950	0.2470	L	0.27053	0.805	0.09310	N	1	B	0.31125	0.309	B	0.24541	0.054	T	0.55860	-0.8074	10	0.66056	D	0.02	.	5.5603	0.17140	0.3159:0.3465:0.3376:0.0	.	109	Q9NSB2	KRT84_HUMAN	D	109	ENSP00000257951:A109D	ENSP00000257951:A109D	A	-	2	0	KRT84	51065311	0.033000	0.19621	0.005000	0.12908	0.092000	0.18411	0.489000	0.22387	0.366000	0.24427	0.609000	0.83330	GCT		0.587	KRT84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405187.1	NM_033045		3	63	1	0	0.004672	1	0.00507046	3	63				
ZNF234	10780	broad.mit.edu	37	19	44660861	44660861	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:44660861C>A	ENST00000426739.2	+	6	950	c.692C>A	c.(691-693)cCa>cAa	p.P231Q	ZNF234_ENST00000592437.1_Missense_Mutation_p.P231Q	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GTAGAGAAACCATTCAAATGT	0.413																																						ENST00000426739.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23						c.(691-693)cCa>cAa		zinc finger protein 234							140.0	142.0	142.0					19																	44660861		2203	4300	6503	SO:0001583	missense	10780				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44660861C>A	X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.692C>A	19.37:g.44660861C>A	ENSP00000400878:p.Pro231Gln		Somatic				ZNF234_ENST00000592437.1_Missense_Mutation_p.P231Q	p.P231Q	NM_006630.2	NP_006621.1	WXS	Illumina GAIIx	Phase_I	Q14588	ZN234_HUMAN			6	950	+		Prostate(69;0.0435)	231					A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	ENST00000426739.2	37	c.692C>A	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084797	0.55861	.	.	ENSG00000167380	ENST00000426739;ENST00000542402	T	0.17213	2.29	3.8	1.3	0.21679	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36468	0.0968	M	0.62088	1.915	0.22940	N	0.998531	D	0.89917	1.0	D	0.91635	0.999	T	0.09773	-1.0659	9	0.87932	D	0	.	11.1666	0.48547	0.3257:0.6742:0.0:0.0	.	231	Q14588	ZN234_HUMAN	Q	231;60	ENSP00000400878:P231Q	ENSP00000400878:P231Q	P	+	2	0	ZNF226	49352701	0.001000	0.12720	0.228000	0.23943	0.998000	0.95712	0.868000	0.27982	0.864000	0.35578	0.586000	0.80456	CCA		0.413	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			5	486	1	0	0.184627	1	0.188705	5	486				
TEX264	51368	broad.mit.edu	37	3	51708285	51708285	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:51708285A>T	ENST00000415259.1	+	2	1047		c.e2-1		TEX264_ENST00000416589.1_Splice_Site|TEX264_ENST00000395057.1_Splice_Site|TEX264_ENST00000341333.5_Splice_Site|TEX264_ENST00000457573.1_Splice_Site			Q9Y6I9	TX264_HUMAN	testis expressed 264							extracellular vesicular exosome (GO:0070062)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		TCTCCTTTGCAGCTGCCTTGA	0.587																																						ENST00000415259.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7						c.e2-1		testis expressed 264							50.0	53.0	52.0					3																	51708285		2202	4300	6502	SO:0001630	splice_region_variant	51368					extracellular region		g.chr3:51708285A>T	AF072733	CCDS2833.1, CCDS74945.1	3p21	2007-03-13	2007-03-13		ENSG00000164081	ENSG00000164081			30247	protein-coding gene	gene with protein product			"""testis expressed gene 264"", ""testis expressed sequence 264"""			12975309	Standard	NM_001243725		Approved	ZSIG11, FLJ13935	uc003dbm.4	Q9Y6I9	OTTHUMG00000156901	ENST00000415259.1:c.-34-1A>T	3.37:g.51708285A>T			Somatic				TEX264_ENST00000341333.5_Splice_Site|TEX264_ENST00000457573.1_Splice_Site|TEX264_ENST00000395057.1_Splice_Site|TEX264_ENST00000416589.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9Y6I9	TX264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)	2	1047	+								B3KN87|Q9UKD7	Splice_Site	SNP	ENST00000415259.1	37		CCDS2833.1																																																																																				0.587	TEX264-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346530.1	NM_015926	Intron	5	49	0	0	0	1	0	5	49				
MBD6	114785	broad.mit.edu	37	12	57920900	57920900	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:57920900G>T	ENST00000355673.3	+	7	2328	c.1972G>T	c.(1972-1974)Gac>Tac	p.D658Y	MBD6_ENST00000431731.2_Missense_Mutation_p.D658Y	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	658	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						AGGCTTGGGAGACCTGTCCCC	0.637																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(1972-1974)Gac>Tac		methyl-CpG binding domain protein 6							41.0	42.0	42.0					12																	57920900		2203	4300	6503	SO:0001583	missense	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57920900G>T	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.1972G>T	12.37:g.57920900G>T	ENSP00000347896:p.Asp658Tyr		Somatic				MBD6_ENST00000431731.2_Missense_Mutation_p.D658Y	p.D658Y	NM_052897.3	NP_443129.3	WXS	Illumina GAIIx	Phase_I	Q96DN6	MBD6_HUMAN			7	2328	+			658			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	c.1972G>T	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689875	0.29962	.	.	ENSG00000166987	ENST00000355673;ENST00000431731;ENST00000300263	.	.	.	4.76	4.76	0.60689	.	0.335552	0.25532	N	0.030040	T	0.45577	0.1349	N	0.08118	0	0.35920	D	0.831743	D;D	0.69078	0.997;0.997	D;D	0.68353	0.957;0.937	T	0.59451	-0.7452	9	0.66056	D	0.02	-5.9226	10.8837	0.46955	0.0:0.0:0.8123:0.1877	.	658;658	Q6P0P0;Q96DN6	.;MBD6_HUMAN	Y	658;658;122	.	ENSP00000300263:D122Y	D	+	1	0	MBD6	56207167	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.744000	0.62118	2.375000	0.81037	0.561000	0.74099	GAC		0.637	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			7	15	1	0	6.5536e-12	1	8.64192e-12	7	15				
FCGBP	8857	broad.mit.edu	37	19	40433988	40433988	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:40433988G>A	ENST00000221347.6	-	2	288	c.281C>T	c.(280-282)gCc>gTc	p.A94V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	94	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTCAGCCTTGGCACTGATGTT	0.547																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(280-282)gCc>gTc		Fc fragment of IgG binding protein							146.0	117.0	127.0					19																	40433988		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40433988G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.281C>T	19.37:g.40433988G>A	ENSP00000221347:p.Ala94Val		Somatic					p.A94V	NM_003890.2	NP_003881.2	WXS	Illumina GAIIx	Phase_I	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	288	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		94			IgGFc-binding.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.281C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	5.682	0.310402	0.10733	.	.	ENSG00000090920	ENST00000221347	T	0.19250	2.16	4.7	2.43	0.29744	.	1.165440	0.06575	N	0.749335	T	0.11410	0.0278	N	0.12182	0.205	0.09310	N	1	P	0.35077	0.483	B	0.25140	0.058	T	0.25641	-1.0126	10	0.49607	T	0.09	.	8.18	0.31305	0.084:0.3057:0.6103:0.0	.	94	Q9Y6R7	FCGBP_HUMAN	V	94	ENSP00000221347:A94V	ENSP00000221347:A94V	A	-	2	0	FCGBP	45125828	0.000000	0.05858	0.165000	0.22776	0.038000	0.13279	0.785000	0.26830	0.610000	0.30035	-0.176000	0.13171	GCC		0.547	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		8	347	0	0	0	1	0	8	347				
MTX2	10651	broad.mit.edu	37	2	177202251	177202251	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:177202251C>T	ENST00000249442.6	+	10	862	c.651C>T	c.(649-651)ggC>ggT	p.G217G	MTX2_ENST00000443241.1_Silent_p.G161G|MTX2_ENST00000392529.2_Silent_p.G207G	NM_006554.4	NP_006545.1	O75431	MTX2_HUMAN	metaxin 2	217					cellular protein metabolic process (GO:0044267)|mitochondrial transport (GO:0006839)|protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane (GO:0005741)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			TGGTATTTGGCCATCTATACA	0.378																																						ENST00000392529.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(619-621)ggC>ggT		metaxin 2							195.0	182.0	187.0					2																	177202251		2203	4300	6503	SO:0001819	synonymous_variant	10651				protein targeting to mitochondrion	mitochondrial outer membrane		g.chr2:177202251C>T	AF053551	CCDS2272.1	2q31.1	2012-02-07			ENSG00000128654	ENSG00000128654			7506	protein-coding gene	gene with protein product		608555				10381257, 17624330	Standard	NM_006554		Approved		uc002ukx.3	O75431	OTTHUMG00000132514	ENST00000249442.6:c.651C>T	2.37:g.177202251C>T			Somatic				MTX2_ENST00000443241.1_Silent_p.G161G|MTX2_ENST00000249442.6_Silent_p.G217G	p.G207G			WXS	Illumina GAIIx	Phase_I	O75431	MTX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)		11	1026	+			217					A8JZZ4|Q53S50|Q53SQ2|Q5M7Z6|Q8IZ68	Silent	SNP	ENST00000249442.6	37	c.621C>T	CCDS2272.1																																																																																				0.378	MTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255695.4	NM_006554		5	189	0	0	0	1	0	5	189				
PRCP	5547	broad.mit.edu	37	11	82611312	82611312	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:82611312C>T	ENST00000313010.3	-	1	327	c.133G>A	c.(133-135)Gcc>Acc	p.A45T	C11orf82_ENST00000525361.1_5'Flank|C11orf82_ENST00000533655.1_5'Flank|C11orf82_ENST00000525388.1_5'Flank|PRCP_ENST00000393399.2_Missense_Mutation_p.A45T|PRCP_ENST00000535099.1_Intron|C11orf82_ENST00000528759.1_5'Flank|C11orf82_ENST00000430323.2_5'Flank|C11orf82_ENST00000524921.1_5'Flank	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	45					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TAGTTCTTGGCTACAGCCGGG	0.647																																						ENST00000313010.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(133-135)Gcc>Acc		prolylcarboxypeptidase (angiotensinase C)							72.0	82.0	79.0					11																	82611312		2203	4300	6503	SO:0001583	missense	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82611312C>T	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.133G>A	11.37:g.82611312C>T	ENSP00000317362:p.Ala45Thr		Somatic				PRCP_ENST00000393399.2_Missense_Mutation_p.A45T|PRCP_ENST00000535099.1_Intron	p.A45T	NM_005040.2	NP_005031.1	WXS	Illumina GAIIx	Phase_I	P42785	PCP_HUMAN			1	327	-			45					A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	ENST00000313010.3	37	c.133G>A	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019441	0.35606	.	.	ENSG00000137509	ENST00000313010;ENST00000393399	T;T	0.16196	2.49;2.36	3.91	-1.69	0.08186	.	1.585210	0.03687	N	0.246492	T	0.08358	0.0208	N	0.08118	0	0.09310	N	0.999996	B;B	0.14438	0.01;0.004	B;B	0.10450	0.005;0.001	T	0.30765	-0.9967	9	.	.	.	6.9787	5.8696	0.18797	0.0:0.3274:0.4756:0.1971	.	45;45	P42785;A8MU24	PCP_HUMAN;.	T	45	ENSP00000317362:A45T;ENSP00000377055:A45T	.	A	-	1	0	PRCP	82288960	0.000000	0.05858	0.000000	0.03702	0.239000	0.25481	-0.297000	0.08276	-0.295000	0.08960	0.557000	0.71058	GCC		0.647	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040		3	145	0	0	0	1	0	3	145				
DPP8	54878	broad.mit.edu	37	15	65790316	65790316	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:65790316C>T	ENST00000341861.5	-	5	2229	c.649G>A	c.(649-651)Gat>Aat	p.D217N	DPP8_ENST00000559233.1_Missense_Mutation_p.D217N|DPP8_ENST00000321118.7_Missense_Mutation_p.D217N|DPP8_ENST00000300141.6_Missense_Mutation_p.D201N|DPP8_ENST00000358939.4_Missense_Mutation_p.D201N|DPP8_ENST00000321147.6_Missense_Mutation_p.D217N|DPP8_ENST00000339244.5_Missense_Mutation_p.D217N	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	217					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AATTTTGGATCCATCCGTATG	0.388																																						ENST00000341861.5																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(649-651)Gat>Aat		dipeptidyl-peptidase 8							160.0	130.0	141.0					15																	65790316		2201	4299	6500	SO:0001583	missense	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65790316C>T	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.649G>A	15.37:g.65790316C>T	ENSP00000339208:p.Asp217Asn		Somatic				DPP8_ENST00000559233.1_Missense_Mutation_p.D217N|DPP8_ENST00000321118.7_Missense_Mutation_p.D217N|DPP8_ENST00000358939.4_Missense_Mutation_p.D201N|DPP8_ENST00000339244.5_Missense_Mutation_p.D217N|DPP8_ENST00000321147.6_Missense_Mutation_p.D217N|DPP8_ENST00000300141.6_Missense_Mutation_p.D201N	p.D217N	NM_197960.2	NP_932064.1	WXS	Illumina GAIIx	Phase_I	Q6V1X1	DPP8_HUMAN			5	2229	-			217					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	ENST00000341861.5	37	c.649G>A	CCDS10207.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965026	0.92855	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244;ENST00000395652	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.39	5.39	0.77823	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.52885	0.1762	L	0.53617	1.68	0.32201	N	0.577756	P;D;P;P	0.67145	0.815;0.996;0.815;0.938	P;D;P;P	0.79784	0.55;0.993;0.55;0.679	T	0.58364	-0.7649	10	0.49607	T	0.09	-13.9913	19.1645	0.93548	0.0:1.0:0.0:0.0	.	201;201;217;217	Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;DPP8_HUMAN	N	217;201;201;217;217;217;217	ENSP00000339208:D217N;ENSP00000351817:D201N;ENSP00000300141:D201N;ENSP00000318111:D217N;ENSP00000316373:D217N;ENSP00000341230:D217N;ENSP00000379013:D217N	ENSP00000300141:D201N	D	-	1	0	DPP8	63577369	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.925000	0.75829	2.506000	0.84524	0.655000	0.94253	GAT		0.388	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		3	96	0	0	0	1	0	3	96				
DPP6	1804	broad.mit.edu	37	7	154379606	154379606	+	Intron	SNP	G	G	T	rs147606989		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:154379606G>T	ENST00000377770.3	+	6	768				DPP6_ENST00000427557.1_Intron|DPP6_ENST00000406326.1_Missense_Mutation_p.D292Y|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000404039.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6						cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTGGCTGGAGGATTGCAGGAG	0.562													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20460	0.0		0.0	False		,,,				2504	0.0				NSCLC(125;1384 1783 2490 7422 34254)	ENST00000406326.1																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(874-876)Gat>Tat		dipeptidyl-peptidase 6							145.0	131.0	135.0					7																	154379606		876	1991	2867	SO:0001627	intron_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154379606G>T	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.628-49925G>T	7.37:g.154379606G>T			Somatic				DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron	p.D292Y			WXS	Illumina GAIIx	Phase_I	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		6	1277	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	0						Missense_Mutation	SNP	ENST00000377770.3	37	c.874G>T		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	2.972	-0.212304	0.06140	.	.	ENSG00000130226	ENST00000406326	.	.	.	2.47	-0.517	0.11947	.	.	.	.	.	T	0.29321	0.0730	.	.	.	0.09310	N	1	B	0.22800	0.075	B	0.27500	0.08	T	0.35425	-0.9789	7	0.87932	D	0	.	2.9502	0.05859	0.3004:0.2402:0.4594:0.0	.	292	Q8IYG9	.	Y	292	.	ENSP00000384393:D292Y	D	+	1	0	DPP6	154010539	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.038000	0.12144	-0.145000	0.11294	0.313000	0.20887	GAT		0.562	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		32	1050	1	0	1.32181e-22	1	1.82826e-22	32	1050				
ZADH2	284273	broad.mit.edu	37	18	72914297	72914297	+	Splice_Site	SNP	T	T	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr18:72914297T>A	ENST00000322342.3	-	2	499		c.e2-2		ZADH2_ENST00000537114.2_Splice_Site	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2							mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		CCAACAAATCTAAAAGAAAAC	0.428																																						ENST00000322342.3																			0				endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15						c.e2-2		zinc binding alcohol dehydrogenase domain containing 2							47.0	46.0	46.0					18																	72914297		2203	4300	6503	SO:0001630	splice_region_variant	284273					peroxisome	oxidoreductase activity|zinc ion binding	g.chr18:72914297T>A	BC033780	CCDS12008.1	18q22.3	2008-05-29	2008-05-29		ENSG00000180011	ENSG00000180011			28697	protein-coding gene	gene with protein product						12477932	Standard	NM_175907		Approved	MGC45594	uc002llx.3	Q8N4Q0	OTTHUMG00000132858	ENST00000322342.3:c.210-2A>T	18.37:g.72914297T>A			Somatic				ZADH2_ENST00000537114.2_Splice_Site		NM_175907.4	NP_787103.1	WXS	Illumina GAIIx	Phase_I	Q8N4Q0	ZADH2_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)	2	499	-		Esophageal squamous(42;0.131)|Prostate(75;0.155)						A8KA15|B4DZ91	Splice_Site	SNP	ENST00000322342.3	37		CCDS12008.1	.	.	.	.	.	.	.	.	.	.	T	18.04	3.533999	0.64972	.	.	ENSG00000180011	ENST00000322342	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0442	0.64695	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZADH2	71043285	1.000000	0.71417	0.975000	0.42487	0.877000	0.50540	7.817000	0.86213	0.893000	0.36288	0.529000	0.55759	.		0.428	ZADH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256332.1	NM_175907	Intron	10	324	0	0	0	1	0	10	324				
CADM4	199731	broad.mit.edu	37	19	44131001	44131001	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:44131001C>T	ENST00000222374.2	-	4	482	c.434G>A	c.(433-435)tGc>tAc	p.C145Y	CADM4_ENST00000593506.1_5'Flank	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	145	Ig-like C2-type 1.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				CGGAACGAGGCAGCTGAGCTC	0.672																																						ENST00000222374.2																			0				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12						c.(433-435)tGc>tAc		cell adhesion molecule 4							41.0	46.0	44.0					19																	44131001		2201	4299	6500	SO:0001583	missense	199731				cell adhesion	integral to membrane		g.chr19:44131001C>T	AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30825	protein-coding gene	gene with protein product	"""nectin-like 4"""	609744	"""immunoglobulin superfamily, member 4C"""	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.434G>A	19.37:g.44131001C>T	ENSP00000222374:p.Cys145Tyr		Somatic					p.C145Y	NM_145296.1	NP_660339.1	WXS	Illumina GAIIx	Phase_I	Q8NFZ8	CADM4_HUMAN			4	482	-		Prostate(69;0.0199)	145			Ig-like C2-type 1.		B2R7L5|Q9Y4A4	Missense_Mutation	SNP	ENST00000222374.2	37	c.434G>A	CCDS12627.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480204	0.84747	.	.	ENSG00000105767	ENST00000222374	D	0.99445	-5.91	5.48	5.48	0.80851	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99597	0.9854	M	0.90759	3.145	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.98066	1.0396	10	0.87932	D	0	.	16.8373	0.85960	0.0:1.0:0.0:0.0	.	145	Q8NFZ8	CADM4_HUMAN	Y	145	ENSP00000222374:C145Y	ENSP00000222374:C145Y	C	-	2	0	CADM4	48822841	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	4.564000	0.60830	2.560000	0.86352	0.591000	0.81541	TGC		0.672	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463352.1	NM_145296		3	41	0	0	0	1	0	3	41				
EPPK1	83481	broad.mit.edu	37	8	144940615	144940615	+	Silent	SNP	G	G	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:144940615G>A	ENST00000525985.1	-	2	6878	c.6807C>T	c.(6805-6807)acC>acT	p.T2269T				P58107	EPIPL_HUMAN	epiplakin 1	2269						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGACGAAGCCGGTGGCCGCCT	0.716																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6805-6807)acC>acT		epiplakin 1							36.0	36.0	36.0					8																	144940615		2150	4233	6383	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940615G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6807C>T	8.37:g.144940615G>A			Somatic					p.T2269T			WXS	Illumina GAIIx	Phase_I	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6878	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2269					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6807C>T																																																																																					0.716	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		3	22	0	0	0	0.001168	0	3	22				
RP11-423O2.5	0	broad.mit.edu	37	1	142803629	142803629	+	lincRNA	SNP	G	G	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:142803629G>A	ENST00000423385.1	-	0	1336																											actaatatctgttgagtgttg	0.308																																						ENST00000423385.1																			0																																																			0							g.chr1:142803629G>A																													1.37:g.142803629G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	1336	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.308	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			7	143	0	0	0	0.013537	0	7	143				
SETX	23064	broad.mit.edu	37	9	135158714	135158714	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:135158714T>C	ENST00000224140.5	-	19	6665	c.6483A>G	c.(6481-6483)ttA>ttG	p.L2161L	SETX_ENST00000372169.2_Silent_p.L2161L|SETX_ENST00000393220.1_Silent_p.L2161L	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2161					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACTCAAGTAGTAAACCACCAC	0.478																																						ENST00000372169.2																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(6481-6483)ttA>ttG		senataxin							206.0	159.0	175.0					9																	135158714		2203	4300	6503	SO:0001819	synonymous_variant	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135158714T>C	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.6483A>G	9.37:g.135158714T>C			Somatic				SETX_ENST00000224140.5_Silent_p.L2161L|SETX_ENST00000393220.1_Silent_p.L2161L	p.L2161L			WXS	Illumina GAIIx	Phase_I	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	19	6665	-		Myeloproliferative disorder(178;0.204)	2161					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	ENST00000224140.5	37	c.6483A>G	CCDS6947.1																																																																																				0.478	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		59	200	0	0	0	0.014410	0	59	200				
HERC6	55008	broad.mit.edu	37	4	89334236	89334236	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:89334236C>T	ENST00000264346.7	+	12	1435	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	HERC6_ENST00000380265.5_Missense_Mutation_p.T459M	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	459					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.T459M(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CAGATAACTACGTGTCTCGAG	0.443																																						ENST00000380265.5																			1	Substitution - Missense(1)	p.T459M(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11						c.(1375-1377)aCg>aTg		HECT and RLD domain containing E3 ubiquitin protein ligase family member 6							215.0	206.0	209.0					4																	89334236		1920	4150	6070	SO:0001583	missense	55008				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity	g.chr4:89334236C>T	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.1376C>T	4.37:g.89334236C>T	ENSP00000264346:p.Thr459Met		Somatic				HERC6_ENST00000264346.7_Missense_Mutation_p.T459M	p.T459M	NM_001165136.1	NP_001158608.1	WXS	Illumina GAIIx	Phase_I	Q8IVU3	HERC6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000222)	12	1559	+		Hepatocellular(203;0.114)	459					B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	c.1376C>T	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474851	0.26511	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.39997	1.05;1.08	4.76	-1.71	0.08133	.	1.440270	0.04266	N	0.341279	T	0.51991	0.1707	M	0.66939	2.045	0.09310	N	1	D;D	0.76494	0.999;0.999	P;P	0.59703	0.862;0.732	T	0.39921	-0.9590	10	0.54805	T	0.06	.	1.1796	0.01842	0.3773:0.2162:0.2472:0.1593	.	459;459	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	M	459	ENSP00000369617:T459M;ENSP00000264346:T459M	ENSP00000264346:T459M	T	+	2	0	HERC6	89553259	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.630000	0.05502	-0.683000	0.05190	-0.302000	0.09304	ACG		0.443	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2			15	677	0	0	0	0.004990	0	15	677				
SPATA31D1	389763	broad.mit.edu	37	9	84607291	84607291	+	Missense_Mutation	SNP	T	T	G	rs201182137	byFrequency	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:84607291T>G	ENST00000344803.2	+	4	1953	c.1906T>G	c.(1906-1908)Ttg>Gtg	p.L636V		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	636					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCAGGAAAGTTTGTGGGGCTT	0.478													G|||	3	0.000599042	0.0008	0.0	5008	,	,		19868	0.0		0.001	False		,,,				2504	0.001					ENST00000344803.2																			0											c.(1906-1908)Ttg>Gtg		SPATA31 subfamily D, member 1		G	VAL/LEU	0,3730		0,0,1865	101.0	98.0	99.0		1906	-3.7	0.0	9		99	1,8223		0,1,4111	no	missense	FAM75D1	NM_001001670.2	32	0,1,5976	GG,GT,TT		0.0122,0.0,0.0084	benign	636/1577	84607291	1,11953	1865	4112	5977	SO:0001583	missense	389763							g.chr9:84607291T>G		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1906T>G	9.37:g.84607291T>G	ENSP00000341988:p.Leu636Val		Somatic					p.L636V	NM_001001670.2	NP_001001670.1	WXS	Illumina GAIIx	Phase_I					4	1953	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.1906T>G	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	4.363	0.066840	0.08388	0.0	1.22E-4	ENSG00000214929	ENST00000344803	T	0.05786	3.39	3.83	-3.67	0.04476	.	1.454400	0.04584	N	0.395509	T	0.02970	0.0088	N	0.11023	0.085	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.43261	-0.9402	10	0.16420	T	0.52	0.4754	3.7406	0.08528	0.108:0.096:0.4463:0.3497	.	636	Q6ZQQ2	F75D1_HUMAN	V	636	ENSP00000341988:L636V	ENSP00000341988:L636V	L	+	1	2	FAM75D1	83797111	0.011000	0.17503	0.002000	0.10522	0.000000	0.00434	-0.756000	0.04777	-1.293000	0.02362	-0.729000	0.03580	TTG		0.478	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		6	158	0	0	0	0.003080	0	6	158				
BLK	640	broad.mit.edu	37	8	11412980	11412980	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:11412980C>A	ENST00000259089.4	+	8	1351	c.759C>A	c.(757-759)ggC>ggA	p.G253G	RP11-148O21.2_ENST00000533322.1_RNA|RP11-148O21.4_ENST00000528629.1_RNA|RP11-148O21.3_ENST00000527922.1_RNA|BLK_ENST00000529894.1_Silent_p.G182G|RP11-148O21.6_ENST00000602626.1_lincRNA	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		GACAATTCGGCGAAGTCTGGA	0.607																																						ENST00000259089.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27						c.(757-759)ggC>ggA		B lymphoid tyrosine kinase							108.0	109.0	109.0					8																	11412980		2203	4300	6503	SO:0001819	synonymous_variant	640				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:11412980C>A	BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"""SH2 domain containing"""	1057	protein-coding gene	gene with protein product		191305	"""B lymphoid tyrosine kinase"""			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.759C>A	8.37:g.11412980C>A			Somatic				BLK_ENST00000529894.1_Silent_p.G182G	p.G253G	NM_001715.2	NP_001706.2	WXS	Illumina GAIIx	Phase_I	P51451	BLK_HUMAN	STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)	8	1351	+			253			Protein kinase.		Q16291|Q96IN1	Silent	SNP	ENST00000259089.4	37	c.759C>A	CCDS5982.1																																																																																				0.607	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207460.1			34	87	1	0	1.22384e-17	0.013726	2.02566e-17	34	87				
DHX37	57647	broad.mit.edu	37	12	125465134	125465134	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:125465134T>C	ENST00000308736.2	-	4	738	c.640A>G	c.(640-642)Atg>Gtg	p.M214V	DHX37_ENST00000544745.1_Start_Codon_SNP_p.M1V	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	214							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.M214V(1)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GGAACAGTCATCCCAGCCGGC	0.692																																						ENST00000308736.2																			1	Substitution - Missense(1)	p.M214V(1)	kidney(1)	breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.(640-642)Atg>Gtg		DEAH (Asp-Glu-Ala-His) box polypeptide 37							39.0	41.0	40.0					12																	125465134		2203	4300	6503	SO:0001583	missense	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125465134T>C	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.640A>G	12.37:g.125465134T>C	ENSP00000311135:p.Met214Val		Somatic				DHX37_ENST00000544745.1_Start_Codon_SNP_p.M1V	p.M214V	NM_032656.3	NP_116045.2	WXS	Illumina GAIIx	Phase_I	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	4	738	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		214					Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	c.640A>G	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	T	6.602	0.479534	0.12581	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.02787	4.23;4.16	5.05	-0.815	0.10843	.	2.365320	0.01212	N	0.007872	T	0.01800	0.0057	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43393	-0.9394	10	0.29301	T	0.29	-16.1152	2.3355	0.04246	0.1426:0.0855:0.2939:0.4779	.	214	Q8IY37	DHX37_HUMAN	V	214;1	ENSP00000311135:M214V;ENSP00000439009:M1V	ENSP00000311135:M214V	M	-	1	0	DHX37	124031087	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.554000	0.06006	0.200000	0.20447	0.528000	0.53228	ATG		0.692	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		6	43	0	0	0	0.012213	0	6	43				
WHAMMP3	339005	broad.mit.edu	37	15	23205183	23205183	+	RNA	SNP	G	G	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:23205183G>C	ENST00000400153.2	-	0	671					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		TTGGCTTTTCGGTGTCCTTGA	0.403																																						ENST00000400153.2																			0																																																			339005							g.chr15:23205183G>C	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205183G>C			Somatic						NR_003521.1		WXS	Illumina GAIIx	Phase_I					0	671	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.403	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		3	28	0	0	0	0.000602	0	3	28				
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	60										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(178-180)Cat>Tat																																						SO:0001583	missense	284802							g.chr20:29625934C>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.178C>T	20.37:g.29625934C>T	ENSP00000278882:p.His60Tyr		Somatic				FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y	p.H60Y			WXS	Illumina GAIIx	Phase_I					5	558	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.178C>T		.	.	.	.	.	.	.	.	.	.	c	3.585	-0.084798	0.07097	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.42131	0.98	1.68	1.68	0.24146	.	0.109676	0.64402	D	0.000005	T	0.32615	0.0835	.	.	.	0.23210	N	0.998115	B	0.26363	0.147	B	0.35859	0.212	T	0.27905	-1.0060	9	0.34782	T	0.22	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	65	F5H5R5	.	Y	60;65;60	ENSP00000408863:H65Y	ENSP00000278882:H60Y	H	+	1	0	FRG1B	28239595	1.000000	0.71417	0.997000	0.53966	0.021000	0.10359	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAT		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		8	124	0	0	0	0.003163	0	8	124				
TUSC5	286753	broad.mit.edu	37	17	1183365	1183365	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:1183365C>T	ENST00000333813.3	+	1	409	c.70C>T	c.(70-72)Ccg>Tcg	p.P24S		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	24					response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCTGGACCTGCCGGAGATGGA	0.627																																						ENST00000333813.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15						c.(70-72)Ccg>Tcg		tumor suppressor candidate 5							54.0	59.0	57.0					17																	1183365		1974	4151	6125	SO:0001583	missense	286753				response to biotic stimulus	integral to membrane		g.chr17:1183365C>T	AB090231	CCDS42225.1	17p13.3	2009-10-16			ENSG00000184811	ENSG00000184811			29592	protein-coding gene	gene with protein product	"""located at seventeen p thirteen point three 1"", ""interferon induced transmembrane protein domain containing 3"""	612211				12660825	Standard	NM_172367		Approved	LOST1, IFITMD3	uc002fsi.1	Q8IXB3	OTTHUMG00000132196	ENST00000333813.3:c.70C>T	17.37:g.1183365C>T	ENSP00000329548:p.Pro24Ser		Somatic					p.P24S	NM_172367.2	NP_758955.2	WXS	Illumina GAIIx	Phase_I	Q8IXB3	TUSC5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	1	409	+			24					A6NMK4	Missense_Mutation	SNP	ENST00000333813.3	37	c.70C>T	CCDS42225.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154862	0.57259	.	.	ENSG00000184811	ENST00000333813	T	0.70282	-0.47	5.38	5.38	0.77491	.	0.305967	0.31290	U	0.007912	T	0.62307	0.2417	L	0.57536	1.79	0.44927	D	0.997944	P	0.38922	0.651	B	0.28139	0.086	T	0.62751	-0.6788	10	0.12766	T	0.61	-15.8795	17.7493	0.88429	0.0:1.0:0.0:0.0	.	24	Q8IXB3	TUSC5_HUMAN	S	24	ENSP00000329548:P24S	ENSP00000329548:P24S	P	+	1	0	TUSC5	1130115	0.953000	0.32496	0.980000	0.43619	0.602000	0.36980	2.963000	0.49184	2.558000	0.86282	0.537000	0.68136	CCG		0.627	TUSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255249.1	NM_172367		4	117	0	0	0	0.009096	0	4	117				
RP11-556N21.1	0	broad.mit.edu	37	13	25144704	25144704	+	RNA	SNP	T	T	C	rs71218558|rs9551120	byFrequency	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr13:25144704T>C	ENST00000453498.1	+	0	245																											TACATAGATGTGTTTAACACA	0.388													t|||	2419	0.483027	0.4924	0.4856	5008	,	,		16250	0.4276		0.3996	False		,,,				2504	0.6115					ENST00000453498.1																			0																																																			374491							g.chr13:25144704T>C																													13.37:g.25144704T>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	245	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.388	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			3	7	0	0	0	0.001984	0	3	7				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			643955							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C			Somatic						NR_003952.1		WXS	Illumina GAIIx	Phase_I					0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			6	75	0	0	0	0.003080	0	6	75				
CAPN2	824	broad.mit.edu	37	1	223954130	223954130	+	Silent	SNP	A	A	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:223954130A>C	ENST00000295006.5	+	16	2061	c.1752A>C	c.(1750-1752)ctA>ctC	p.L584L	CAPN2_ENST00000474026.1_3'UTR|CAPN2_ENST00000433674.2_Silent_p.L506L	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	584	Domain IV.|EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TTGACATGCTAGATGTATCCT	0.403																																						ENST00000295006.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29						c.(1750-1752)ctA>ctC		calpain 2, (m/II) large subunit							136.0	119.0	125.0					1																	223954130		2203	4300	6503	SO:0001819	synonymous_variant	824				proteolysis	cytoplasm|plasma membrane		g.chr1:223954130A>C	J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1752A>C	1.37:g.223954130A>C			Somatic				CAPN2_ENST00000474026.1_3'UTR|CAPN2_ENST00000433674.2_Silent_p.L506L	p.L584L	NM_001748.4	NP_001739.2	WXS	Illumina GAIIx	Phase_I	P17655	CAN2_HUMAN		GBM - Glioblastoma multiforme(131;0.109)	16	2061	+			584			Domain IV.|EF-hand 1.		A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Silent	SNP	ENST00000295006.5	37	c.1752A>C	CCDS31035.1																																																																																				0.403	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748		9	65	0	0	0	0.008291	0	9	65				
TRMT12	55039	broad.mit.edu	37	8	125463612	125463612	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:125463612C>G	ENST00000328599.3	+	1	565	c.444C>G	c.(442-444)ttC>ttG	p.F148L	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	148					tRNA processing (GO:0008033)		transferase activity (GO:0016740)			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AAGACTGTTTCCAAGCCAAGC	0.567																																						ENST00000328599.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(442-444)ttC>ttG		tRNA methyltransferase 12 homolog (S. cerevisiae)							77.0	78.0	77.0					8																	125463612		2203	4300	6503	SO:0001583	missense	55039				tRNA processing		methyltransferase activity	g.chr8:125463612C>G	AF313041	CCDS6349.1	8q24.13	2011-05-09	2006-11-16		ENSG00000183665	ENSG00000183665			26091	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 2"""	611244	"""tRNA methyltranferase 12 homolog (S. cerevisiae)"""			16005430, 17150819	Standard	NM_017956		Approved	FLJ20772, Trm12, TYW2	uc003yra.4	Q53H54	OTTHUMG00000165022	ENST00000328599.3:c.444C>G	8.37:g.125463612C>G	ENSP00000329858:p.Phe148Leu		Somatic				TRMT12_ENST00000521443.1_Intron	p.F148L	NM_017956.3	NP_060426.2	WXS	Illumina GAIIx	Phase_I	Q53H54	TYW2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		1	565	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		148					Q6PKB9|Q96F21|Q9NWK6	Missense_Mutation	SNP	ENST00000328599.3	37	c.444C>G	CCDS6349.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143626	0.57044	.	.	ENSG00000183665	ENST00000328599	T	0.22134	1.97	4.55	2.59	0.31030	.	0.000000	0.85682	D	0.000000	T	0.27697	0.0681	L	0.49256	1.55	0.52099	D	0.999948	P	0.52061	0.95	P	0.61328	0.887	T	0.30357	-0.9981	10	0.02654	T	1	-14.9229	9.0902	0.36605	0.0:0.7984:0.0:0.2016	.	148	Q53H54	TYW2_HUMAN	L	148	ENSP00000329858:F148L	ENSP00000329858:F148L	F	+	3	2	TRMT12	125532793	0.999000	0.42202	1.000000	0.80357	0.788000	0.44548	1.637000	0.37155	0.515000	0.28320	-0.367000	0.07326	TTC		0.567	TRMT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381465.1	NM_017956		7	208	0	0	0	0.003080	0	7	208				
NAV1	89796	broad.mit.edu	37	1	201772738	201772738	+	Missense_Mutation	SNP	C	C	A	rs191072842		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:201772738C>A	ENST00000367296.4	+	16	3955	c.3535C>A	c.(3535-3537)Caa>Aaa	p.Q1179K	NAV1_ENST00000367302.1_Missense_Mutation_p.Q1135K|NAV1_ENST00000367297.4_Missense_Mutation_p.Q1171K|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.Q1179K|NAV1_ENST00000367295.1_Missense_Mutation_p.Q788K|NAV1_ENST00000367300.3_Missense_Mutation_p.Q1122K	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1179					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GATCAAGAGACAAAACTCCTC	0.443																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(3535-3537)Caa>Aaa		neuron navigator 1							99.0	84.0	89.0					1																	201772738		2203	4300	6503	SO:0001583	missense	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201772738C>A	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.3535C>A	1.37:g.201772738C>A	ENSP00000356265:p.Gln1179Lys		Somatic				NAV1_ENST00000367297.4_Missense_Mutation_p.Q1171K|NAV1_ENST00000367300.3_Missense_Mutation_p.Q1122K|NAV1_ENST00000367295.1_Missense_Mutation_p.Q788K|NAV1_ENST00000367302.1_Missense_Mutation_p.Q1135K|NAV1_ENST00000295624.6_Missense_Mutation_p.Q1179K|IPO9-AS1_ENST00000413035.1_RNA	p.Q1179K	NM_020443.4	NP_065176.3	WXS	Illumina GAIIx	Phase_I	Q8NEY1	NAV1_HUMAN			16	3955	+			1179					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	c.3535C>A	CCDS1414.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	31|31|31	5.098918|5.098918|5.098918	0.94197|0.94197|0.94197	.|.|.	.|.|.	ENSG00000134369|ENSG00000134369|ENSG00000134369	ENST00000438083|ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295|ENST00000430015	.|D;D;D;D;D;D|.	.|0.93859|.	.|-3.3;-3.3;-3.3;-3.3;-3.3;-3.3|.	5.0|5.0|5.0	5.0|5.0|5.0	0.66597|0.66597|0.66597	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.77123|0.77123|0.77123	0.4084|0.4084|0.4084	M|M|M	0.77486|0.77486|0.77486	2.375|2.375|2.375	0.58432|0.58432|0.58432	D|D|D	0.999996|0.999996|0.999996	.|D;D;P;D|.	.|0.89917|.	.|0.998;1.0;0.934;0.998|.	.|D;D;D;D|.	.|0.80764|.	.|0.991;0.994;0.943;0.991|.	T|T|T	0.78107|0.78107|0.78107	-0.2333|-0.2333|-0.2333	5|10|5	.|0.87932|.	.|D|.	.|0|.	-23.7326|-23.7326|-23.7326	17.9614|17.9614|17.9614	0.89086|0.89086|0.89086	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|788;1179;704;1179|.	.|Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3|.	.|.;NAV1_HUMAN;.;.|.	E|K|K	161|1135;1179;1179;1171;1122;704;788|728	.|ENSP00000356271:Q1135K;ENSP00000356265:Q1179K;ENSP00000295624:Q1179K;ENSP00000356266:Q1171K;ENSP00000356269:Q1122K;ENSP00000356264:Q788K|.	.|ENSP00000295624:Q1179K|.	D|Q|T	+|+|+	3|1|2	2|0|0	NAV1|NAV1|NAV1	200039361|200039361|200039361	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	6.020000|6.020000|6.020000	0.70826|0.70826|0.70826	2.332000|2.332000|2.332000	0.79248|0.79248|0.79248	0.558000|0.558000|0.558000	0.71614|0.71614|0.71614	GAC|CAA|ACA		0.443	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		28	45	1	0	2.65835e-16	0.007291	4.32544e-16	28	45				
SORCS3	22986	broad.mit.edu	37	10	106976771	106976771	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:106976771C>T	ENST00000369701.3	+	19	2852	c.2625C>T	c.(2623-2625)atC>atT	p.I875I	SORCS3_ENST00000369699.4_Silent_p.I161I	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	875	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.I875I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCAGCCCCATCGAGGACGGCA	0.532																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			1	Substitution - coding silent(1)	p.I875I(1)	stomach(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(2623-2625)atC>atT		sortilin-related VPS10 domain containing receptor 3							165.0	125.0	139.0					10																	106976771		2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106976771C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2625C>T	10.37:g.106976771C>T			Somatic				SORCS3_ENST00000369699.4_Silent_p.I161I	p.I875I	NM_014978.1	NP_055793.1	WXS	Illumina GAIIx	Phase_I	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	19	2852	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	875			PKD.		Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.2625C>T	CCDS7558.1																																																																																				0.532	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		31	66	0	0	0	0.008361	0	31	66				
SPATA31D1	389763	broad.mit.edu	37	9	84607299	84607299	+	Silent	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:84607299C>T	ENST00000344803.2	+	4	1961	c.1914C>T	c.(1912-1914)ggC>ggT	p.G638G		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	638					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.G638G(2)									GTTTGTGGGGCTTACCCTCTG	0.478																																						ENST00000344803.2																			2	Substitution - coding silent(2)	p.G638G(2)	lung(2)								c.(1912-1914)ggC>ggT		SPATA31 subfamily D, member 1							101.0	97.0	99.0					9																	84607299		1860	4112	5972	SO:0001819	synonymous_variant	389763							g.chr9:84607299C>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1914C>T	9.37:g.84607299C>T			Somatic					p.G638G	NM_001001670.2	NP_001001670.1	WXS	Illumina GAIIx	Phase_I					4	1961	+									Silent	SNP	ENST00000344803.2	37	c.1914C>T	CCDS47986.1																																																																																				0.478	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		6	156	0	0	0	0.003080	0	6	156				
GRIA1	2890	broad.mit.edu	37	5	153190646	153190646	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:153190646G>A	ENST00000285900.5	+	16	2925	c.2582G>A	c.(2581-2583)cGc>cAc	p.R861H	GRIA1_ENST00000518142.1_Missense_Mutation_p.R781H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R792H|GRIA1_ENST00000340592.5_Missense_Mutation_p.R861H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R871H|GRIA1_ENST00000518783.1_Missense_Mutation_p.R871H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	861					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	ACCCTCCCCCGCAACAGCGGG	0.592																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2581-2583)cGc>cAc		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						45.0	50.0	48.0					5																	153190646		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153190646G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2582G>A	5.37:g.153190646G>A	ENSP00000285900:p.Arg861His		Somatic				GRIA1_ENST00000518783.1_Missense_Mutation_p.R871H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R792H|GRIA1_ENST00000518142.1_Missense_Mutation_p.R781H|GRIA1_ENST00000340592.5_Missense_Mutation_p.R861H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R871H	p.R861H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	WXS	Illumina GAIIx	Phase_I	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		16	2925	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	861					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2582G>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950626	0.92660	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.12984	2.68;2.63;2.68;2.63;2.63;2.67;2.67	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.20941	0.0504	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.998;0.996;0.999;0.996	P;P;P;P;P	0.62014	0.791;0.791;0.572;0.897;0.572	T	0.09618	-1.0666	10	0.87932	D	0	.	17.6489	0.88157	0.0:0.0:1.0:0.0	.	871;871;781;861;861	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	H	861;861;781;861;794;792;871;871	ENSP00000285900:R861H;ENSP00000427920:R781H;ENSP00000339343:R861H;ENSP00000427864:R794H;ENSP00000442108:R792H;ENSP00000428994:R871H;ENSP00000415569:R871H	ENSP00000285900:R861H	R	+	2	0	GRIA1	153170839	1.000000	0.71417	0.919000	0.36401	0.877000	0.50540	9.200000	0.95010	2.399000	0.81585	0.655000	0.94253	CGC		0.592	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			22	81	0	0	0	0.007291	0	22	81				
MTCL1	23255	broad.mit.edu	37	18	8825455	8825455	+	Missense_Mutation	SNP	C	C	A	rs375774425		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr18:8825455C>A	ENST00000306329.11	+	13	4904	c.4904C>A	c.(4903-4905)aCg>aAg	p.T1635K	SOGA2_ENST00000517570.1_Missense_Mutation_p.T1275K|SOGA2_ENST00000400050.3_Missense_Mutation_p.T1275K|SOGA2_ENST00000306285.7_Missense_Mutation_p.T641K|SOGA2_ENST00000518815.1_Missense_Mutation_p.T641K|SOGA2_ENST00000359865.3_Missense_Mutation_p.T1316K																							GGGTCCCGGACGATGGGGACC	0.612																																						ENST00000359865.3																			0											c.(3946-3948)aCg>aAg		SOGA family member 2							34.0	34.0	34.0					18																	8825455		2203	4299	6502	SO:0001583	missense	23255							g.chr18:8825455C>A																												ENST00000306329.11:c.4904C>A	18.37:g.8825455C>A	ENSP00000305027:p.Thr1635Lys		Somatic				SOGA2_ENST00000518815.1_Missense_Mutation_p.T641K|SOGA2_ENST00000517570.1_Missense_Mutation_p.T1275K|SOGA2_ENST00000400050.3_Missense_Mutation_p.T1275K|SOGA2_ENST00000306329.11_Missense_Mutation_p.T1635K|SOGA2_ENST00000306285.7_Missense_Mutation_p.T641K	p.T1316K	NM_015210.3	NP_056025.2	WXS	Illumina GAIIx	Phase_I	Q9Y4B5	CC165_HUMAN			15	4089	+			1626						Missense_Mutation	SNP	ENST00000306329.11	37	c.3947C>A		.	.	.	.	.	.	.	.	.	.	C	15.46	2.840397	0.51057	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.24	5.24	0.73138	.	0.285078	0.25490	N	0.030303	T	0.49270	0.1547	M	0.62723	1.935	0.41003	D	0.984943	D;D	0.69078	0.988;0.997	P;P	0.61132	0.753;0.884	T	0.52313	-0.8592	10	0.72032	D	0.01	-11.595	14.4332	0.67264	0.0:0.8527:0.1473:0.0	.	1626;1316	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	K	1337;1275;1316;1275;641	ENSP00000429556:T1275K;ENSP00000352927:T1316K;ENSP00000382924:T1275K;ENSP00000303670:T641K	ENSP00000303670:T641K	T	+	2	0	CCDC165	8815455	0.998000	0.40836	0.980000	0.43619	0.951000	0.60555	3.813000	0.55636	2.448000	0.82819	0.655000	0.94253	ACG		0.612	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			15	72	1	0	6.31663e-08	0.003163	9.47494e-08	15	72				
MAP3K13	9175	broad.mit.edu	37	3	185198109	185198109	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:185198109G>C	ENST00000265026.3	+	13	2925	c.2591G>C	c.(2590-2592)aGt>aCt	p.S864T	MAP3K13_ENST00000446828.1_Missense_Mutation_p.S657T|MAP3K13_ENST00000443863.1_Missense_Mutation_p.S720T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.S720T|TMEM41A_ENST00000475480.1_5'UTR|MAP3K13_ENST00000424227.1_Missense_Mutation_p.S864T	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GGAAATACCAGTGACCACTCA	0.488																																						ENST00000265026.3																			0				NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2590-2592)aGt>aCt		mitogen-activated protein kinase kinase kinase 13							100.0	98.0	99.0					3																	185198109		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185198109G>C	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.2591G>C	3.37:g.185198109G>C	ENSP00000265026:p.Ser864Thr		Somatic				MAP3K13_ENST00000446828.1_Missense_Mutation_p.S657T|MAP3K13_ENST00000443863.1_Missense_Mutation_p.S720T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.S720T|MAP3K13_ENST00000424227.1_Missense_Mutation_p.S864T|TMEM41A_ENST00000475480.1_5'UTR	p.S864T	NM_004721.4	NP_004712.1	WXS	Illumina GAIIx	Phase_I	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		13	2925	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		864						Missense_Mutation	SNP	ENST00000265026.3	37	c.2591G>C	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.289597	0.80914	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	T;T;T;T;T	0.13089	2.62;2.62;2.62;2.62;2.62	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.22975	0.0555	N	0.12182	0.205	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.78314	0.991;0.991;0.98	T	0.13683	-1.0500	10	0.39692	T	0.17	.	19.8657	0.96803	0.0:0.0:1.0:0.0	.	720;657;864	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	T	657;864;720;720;864	ENSP00000411483:S657T;ENSP00000399910:S864T;ENSP00000409325:S720T;ENSP00000439257:S720T;ENSP00000265026:S864T	ENSP00000265026:S864T	S	+	2	0	MAP3K13	186680803	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	9.804000	0.99143	2.686000	0.91538	0.655000	0.94253	AGT		0.488	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		7	276	0	0	0	0.001984	0	7	276				
LOC645752	645752	broad.mit.edu	37	15	78211427	78211427	+	lincRNA	SNP	G	G	T	rs71145882|rs78547308	byFrequency	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:78211427G>T	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							TGCTCTCGGAGCATCTCCTCC	0.587													N|||	705	0.140775	0.093	0.17	5008	,	,		14880	0.1091		0.2406	False		,,,				2504	0.1145					ENST00000565869.1																			0																																																			645752							g.chr15:78211427G>T																													15.37:g.78211427G>T			Somatic				RP11-114H24.2_ENST00000567226.1_RNA				WXS	Illumina GAIIx	Phase_I					0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.587	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			59	171	1	0	1.25742e-37	0.014410	2.11776e-37	59	171				
AMER3	205147	broad.mit.edu	37	2	131520926	131520926	+	Silent	SNP	C	C	T	rs532564436		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:131520926C>T	ENST00000423981.1	+	2	1391	c.1281C>T	c.(1279-1281)caC>caT	p.H427H	AMER3_ENST00000321420.4_Silent_p.H427H	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	427					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										AGCTCTTCCACGACCCCAGCG	0.637													c|||	1	0.000199681	0.0008	0.0	5008	,	,		14930	0.0		0.0	False		,,,				2504	0.0					ENST00000423981.1																			0											c.(1279-1281)caC>caT		APC membrane recruitment protein 3							45.0	43.0	43.0					2																	131520926		2203	4300	6503	SO:0001819	synonymous_variant	205147							g.chr2:131520926C>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1281C>T	2.37:g.131520926C>T			Somatic				AMER3_ENST00000321420.4_Silent_p.H427H	p.H427H	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	WXS	Illumina GAIIx	Phase_I					2	1391	+								B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.1281C>T	CCDS2164.1																																																																																				0.637	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		25	46	0	0	0	0.006320	0	25	46				
TMEM108	66000	broad.mit.edu	37	3	133098622	133098622	+	Missense_Mutation	SNP	G	G	A	rs367779843		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:133098622G>A	ENST00000321871.6	+	4	277	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	TMEM108_ENST00000515826.1_Missense_Mutation_p.E23K|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.E23K	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	23						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGCACTGACCGAAGCGCTGGC	0.552																																						ENST00000515826.1																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(67-69)Gaa>Aaa		transmembrane protein 108			LYS/GLU,LYS/GLU	0,4406		0,0,2203	299.0	312.0	307.0		67,67	3.5	0.8	3		307	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TMEM108	NM_023943.2,NM_001136469.1	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	23/576,23/576	133098622	1,13005	2203	4300	6503	SO:0001583	missense	66000					integral to membrane		g.chr3:133098622G>A	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.67G>A	3.37:g.133098622G>A	ENSP00000324651:p.Glu23Lys		Somatic				TMEM108_ENST00000321871.6_Missense_Mutation_p.E23K|TMEM108_ENST00000393130.3_Missense_Mutation_p.E23K|TMEM108_ENST00000508711.1_Intron	p.E23K			WXS	Illumina GAIIx	Phase_I	Q6UXF1	TM108_HUMAN			3	190	+			23					D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	c.67G>A	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	g	15.14	2.744866	0.49151	0.0	1.16E-4	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000512137;ENST00000511555;ENST00000515826;ENST00000510183	T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64	4.41	3.52	0.40303	.	0.237850	0.21829	N	0.068514	T	0.30854	0.0778	N	0.22421	0.69	0.09310	N	0.999998	B;B	0.24132	0.098;0.098	B;B	0.16722	0.016;0.016	T	0.16188	-1.0411	10	0.39692	T	0.17	-2.7734	9.0831	0.36565	0.0849:0.1477:0.7675:0.0	.	23;23	E9PB58;Q6UXF1	.;TM108_HUMAN	K	23	ENSP00000324651:E23K;ENSP00000376838:E23K;ENSP00000426301:E23K;ENSP00000422196:E23K;ENSP00000423338:E23K;ENSP00000421486:E23K	ENSP00000324651:E23K	E	+	1	0	TMEM108	134581312	1.000000	0.71417	0.836000	0.33094	0.844000	0.47949	5.439000	0.66556	0.955000	0.37878	0.556000	0.70494	GAA		0.552	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		20	824	0	0	0	0.007413	0	20	824				
DHX40	79665	broad.mit.edu	37	17	57663568	57663568	+	Silent	SNP	A	A	G	rs2697395		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:57663568A>G	ENST00000251241.4	+	11	1545	c.1398A>G	c.(1396-1398)caA>caG	p.Q466Q	DHX40_ENST00000425628.3_Silent_p.Q389Q|DHX40_ENST00000451169.2_Silent_p.Q418Q	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	466							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.Q466Q(1)		endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTCTTAAACAACTTTACCAGT	0.323																																						ENST00000451169.2																			1	Substitution - coding silent(1)	p.Q466Q(1)	endometrium(1)	endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20						c.(1252-1254)caA>caG		DEAH (Asp-Glu-Ala-His) box polypeptide 40							57.0	49.0	52.0					17																	57663568		2202	4297	6499	SO:0001819	synonymous_variant	79665						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr17:57663568A>G	AF260270	CCDS11617.1, CCDS54150.1	17q22	2014-01-28	2003-06-13	2003-06-20		ENSG00000108406		"""DEAH-boxes"""	18018	protein-coding gene	gene with protein product		607570	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 40 (RNA helicase)"""	DDX40			Standard	NM_024612		Approved	ARG147, PAD, FLJ22060	uc002ixn.2	Q8IX18		ENST00000251241.4:c.1398A>G	17.37:g.57663568A>G			Somatic				DHX40_ENST00000425628.3_Silent_p.Q389Q|DHX40_ENST00000251241.4_Silent_p.Q466Q	p.Q418Q			WXS	Illumina GAIIx	Phase_I	Q8IX18	DHX40_HUMAN			14	1613	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		466			Helicase C-terminal.		B3KTJ5|C9JR60|Q5JPH4|Q8TC86|Q8WY53|Q9BXM1|Q9H6M9	Silent	SNP	ENST00000251241.4	37	c.1254A>G	CCDS11617.1																																																																																				0.323	DHX40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446095.1	NM_024612		4	25	0	0	0	0.009096	0	4	25				
KRTAP5-4	387267	broad.mit.edu	37	11	1642989	1642989	+	Missense_Mutation	SNP	C	C	A	rs184758001		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:1642989C>A	ENST00000399682.1	-	1	379	c.335G>T	c.(334-336)gGc>gTc	p.G112V		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G112V(3)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCACAGGAGCCACAGCCCCC	0.677																																						ENST00000399682.1																			3	Substitution - Missense(3)	p.G112V(3)	skin(2)|NS(1)	NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(334-336)gGc>gTc		keratin associated protein 5-4							8.0	18.0	15.0					11																	1642989		664	1524	2188	SO:0001583	missense	387267					keratin filament		g.chr11:1642989C>A	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.335G>T	11.37:g.1642989C>A	ENSP00000382590:p.Gly112Val		Somatic					p.G112V	NM_001012709.1	NP_001012727.1	WXS	Illumina GAIIx	Phase_I	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	379	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	112			9 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000399682.1	37	c.335G>T		48	0.02197802197802198	13	0.026422764227642278	8	0.022099447513812154	6	0.01048951048951049	21	0.027704485488126648	C	2.407	-0.336332	0.05278	.	.	ENSG00000241598	ENST00000399682;ENST00000328953	T	0.00760	5.73	3.38	3.38	0.38709	.	.	.	.	.	T	0.01092	0.0036	M	0.76574	2.34	0.42892	D	0.994203	D	0.89917	1.0	D	0.80764	0.994	T	0.60342	-0.7282	9	0.32370	T	0.25	.	12.5747	0.56357	0.0:1.0:0.0:0.0	.	172	Q6L8H1	KRA54_HUMAN	V	112	ENSP00000382590:G112V	ENSP00000331603:G112V	G	-	2	0	KRTAP5-4	1599565	0.183000	0.23186	0.998000	0.56505	0.059000	0.15707	0.616000	0.24344	1.573000	0.49748	0.579000	0.79373	GGC		0.677	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		9	30	1	0	8.00594e-06	0.007413	1.1645e-05	9	30				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			650368							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			9	89	0	0	0	0.004482	0	9	89				
MYO19	80179	broad.mit.edu	37	17	34861237	34861237	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:34861237G>T	ENST00000431794.3	-	19	2326	c.1804C>A	c.(1804-1806)Ctg>Atg	p.L602M	MYO19_ENST00000268852.9_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	602	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AGCTGCTCCAGTGAGGCCTGC	0.592																																						ENST00000431794.3																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20						c.(1804-1806)Ctg>Atg		myosin XIX							94.0	86.0	88.0					17																	34861237		1568	3582	5150	SO:0001583	missense	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34861237G>T	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.1804C>A	17.37:g.34861237G>T	ENSP00000409936:p.Leu602Met		Somatic				MYO19_ENST00000268852.9_Intron	p.L602M	NM_001163735.1	NP_001157207.1	WXS	Illumina GAIIx	Phase_I	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	19	2326	-		Breast(25;0.00957)|Ovarian(249;0.17)	602			Myosin head-like.		Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	c.1804C>A	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312029	0.81358	.	.	ENSG00000141140	ENST00000431794	D	0.89810	-2.57	5.53	4.56	0.56223	Myosin head, motor domain (2);	.	.	.	.	D	0.93618	0.7962	M	0.74389	2.26	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94157	0.7411	9	0.87932	D	0	.	13.1998	0.59761	0.0775:0.0:0.9224:0.0	.	602	Q96H55	MYO19_HUMAN	M	602	ENSP00000409936:L602M	ENSP00000409936:L602M	L	-	1	2	MYO19	31935350	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	5.742000	0.68646	1.462000	0.47948	0.563000	0.77884	CTG		0.592	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		8	63	1	0	5.18039e-06	0.003080	7.65104e-06	8	63				
SYNE1	23345	broad.mit.edu	37	6	152749365	152749365	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:152749365C>T	ENST00000367255.5	-	37	5552	c.4951G>A	c.(4951-4953)Gag>Aag	p.E1651K	SYNE1_ENST00000423061.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1721K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1651K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1651K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1651					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCAGATTCTCCAGCGCCGTC	0.512										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(4951-4953)Gag>Aag		spectrin repeat containing, nuclear envelope 1							196.0	204.0	201.0					6																	152749365		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152749365C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4951G>A	6.37:g.152749365C>T	ENSP00000356224:p.Glu1651Lys	HNSCC(10;0.0054)	Somatic				SYNE1_ENST00000265368.4_Missense_Mutation_p.E1651K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1651K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1721K	p.E1651K	NM_182961.3	NP_892006.3	WXS	Illumina GAIIx	Phase_I	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	37	5552	-		Ovarian(120;0.0955)	1651					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.4951G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984058	0.74474	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38	5.87	5.87	0.94306	.	0.196546	0.35179	N	0.003396	T	0.58764	0.2145	M	0.65498	2.005	0.80722	D	1	P;P;P;P;P	0.49862	0.856;0.866;0.929;0.866;0.929	B;B;P;B;P	0.51582	0.393;0.419;0.674;0.419;0.539	T	0.61476	-0.7055	10	0.66056	D	0.02	.	20.206	0.98277	0.0:1.0:0.0:0.0	.	1634;1651;1651;1651;1658	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	K	1651;1658;1651;1658;1721;1651	ENSP00000356224:E1651K;ENSP00000396024:E1658K;ENSP00000265368:E1651K;ENSP00000390975:E1658K;ENSP00000341887:E1721K;ENSP00000356222:E1651K	ENSP00000265368:E1651K	E	-	1	0	SYNE1	152791058	1.000000	0.71417	0.866000	0.34008	0.585000	0.36419	6.449000	0.73473	2.785000	0.95823	0.655000	0.94253	GAG		0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		6	343	0	0	0	0.001984	0	6	343				
DCLRE1C	64421	broad.mit.edu	37	10	14950897	14950897	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:14950897G>A	ENST00000378278.2	-	14	1626	c.1589C>T	c.(1588-1590)aCt>aTt	p.T530I	DCLRE1C_ENST00000357717.2_Missense_Mutation_p.T415I|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.T410I|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.T183I|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.T410I|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.T410I|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.T410I|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.T415I|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.T415I|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.T410I			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	530					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GGAGATGTGAGTTGATTCTCC	0.453								Non-homologous end-joining																														ENST00000453695.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						c.(1228-1230)aCt>aTt	Non-homologous end-joining	DNA cross-link repair 1C							68.0	66.0	67.0					10																	14950897		2203	4300	6503	SO:0001583	missense	64421				DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity	g.chr10:14950897G>A	BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1589C>T	10.37:g.14950897G>A	ENSP00000367527:p.Thr530Ile		Somatic				DCLRE1C_ENST00000396817.2_Missense_Mutation_p.T410I|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.T183I|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.T410I|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.T410I|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.T415I|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.T410I|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.T415I|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.T530I|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.T415I	p.T410I	NM_001033855.1	NP_001029027.1	WXS	Illumina GAIIx	Phase_I	Q96SD1	DCR1C_HUMAN			14	1673	-			530					D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	ENST00000378278.2	37	c.1229C>T	CCDS31149.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608865	0.87258	.	.	ENSG00000152457	ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000378242	T;T;T;T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84	5.93	5.93	0.95920	.	0.269175	0.41823	D	0.000806	T	0.44540	0.1298	L	0.32530	0.975	0.48632	D	0.999684	D;D	0.89917	1.0;0.986	D;P	0.91635	0.999;0.731	T	0.30090	-0.9990	10	0.87932	D	0	.	20.3311	0.98718	0.0:0.0:1.0:0.0	.	415;530	Q96SD1-3;Q96SD1	.;DCR1C_HUMAN	I	410;415;415;415;410;410;410;530;410;183	ENSP00000400529:T410I;ENSP00000367492:T415I;ENSP00000350349:T415I;ENSP00000367496:T415I;ENSP00000380030:T410I;ENSP00000367503:T410I;ENSP00000367502:T410I;ENSP00000367527:T530I;ENSP00000367506:T410I;ENSP00000367488:T183I	ENSP00000350349:T415I	T	-	2	0	DCLRE1C	14990903	1.000000	0.71417	0.990000	0.47175	0.985000	0.73830	7.159000	0.77483	2.797000	0.96272	0.655000	0.94253	ACT		0.453	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487		5	114	0	0	0	0.000602	0	5	114				
OCA2	4948	broad.mit.edu	37	15	28230277	28230277	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:28230277C>T	ENST00000354638.3	-	13	1452	c.1297G>A	c.(1297-1299)Gcg>Acg	p.A433T	OCA2_ENST00000353809.5_Missense_Mutation_p.A409T|OCA2_ENST00000382996.2_Missense_Mutation_p.A433T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	433					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGGACGGCCGCGATGAGACAG	0.597									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(1297-1299)Gcg>Acg		oculocutaneous albinism II							152.0	106.0	122.0					15																	28230277		2203	4300	6503	SO:0001583	missense	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28230277C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1297G>A	15.37:g.28230277C>T	ENSP00000346659:p.Ala433Thr		Somatic				OCA2_ENST00000382996.2_Missense_Mutation_p.A433T|OCA2_ENST00000353809.5_Missense_Mutation_p.A409T	p.A433T	NM_000275.2	NP_000266.2	WXS	Illumina GAIIx	Phase_I	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	13	1452	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	433					Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.1297G>A	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797073	0.31777	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.90900	-2.75;-2.75;-2.75	5.2	5.2	0.72013	Divalent ion symporter (1);	0.000000	0.85682	D	0.000000	T	0.80121	0.4565	N	0.00815	-1.16	0.53688	D	0.999974	P;P	0.46277	0.525;0.875	B;P	0.52217	0.072;0.693	T	0.80197	-0.1482	10	0.02654	T	1	-11.1821	18.0938	0.89482	0.0:1.0:0.0:0.0	.	409;433	Q04671-2;Q04671	.;P_HUMAN	T	433;409;433	ENSP00000346659:A433T;ENSP00000261276:A409T;ENSP00000372457:A433T	ENSP00000261276:A409T	A	-	1	0	OCA2	25903872	1.000000	0.71417	0.749000	0.31150	0.460000	0.32559	7.083000	0.76859	2.576000	0.86940	0.655000	0.94253	GCG		0.597	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		5	78	0	0	0	0.001984	0	5	78				
JMJD7	100137047	broad.mit.edu	37	15	42127000	42127000	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:42127000C>T	ENST00000397299.4	+	2	167	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.R43W|PLA2G4B_ENST00000452633.1_5'Flank|JMJD7_ENST00000405106.2_3'UTR|JMJD7_ENST00000408047.1_Intron|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.R43W|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R43W	NM_001114632.1	NP_001108104.1	P0C870	JMJD7_HUMAN	jumonji domain containing 7	43										NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	8						CCACTTCTACCGGGACTGGGT	0.602																																						ENST00000382448.4																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						c.(127-129)Cgg>Tgg									111.0	109.0	110.0					15																	42127000		2203	4300	6503	SO:0001583	missense	8681				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr15:42127000C>T		CCDS45240.1	15q15.1	2011-02-10			ENSG00000243789	ENSG00000243789			34397	protein-coding gene	gene with protein product							Standard	NM_001114632		Approved			P0C870	OTTHUMG00000156810	ENST00000397299.4:c.127C>T	15.37:g.42127000C>T	ENSP00000380467:p.Arg43Trp		Somatic				JMJD7_ENST00000397299.4_Missense_Mutation_p.R43W|JMJD7_ENST00000408047.1_Intron|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R43W|JMJD7_ENST00000405106.2_3'UTR|JMJD7-PLA2G4B_ENST00000542534.1_Missense_Mutation_p.R43W	p.R43W	NM_005090.3	NP_005081.1	WXS	Illumina GAIIx	Phase_I	P0C869	PA24B_HUMAN			2	136	+			0			C2.		A5D6V5|O95712|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000397299.4	37	c.127C>T	CCDS45240.1	.	.	.	.	.	.	.	.	.	.	.	25.0	4.596383	0.86953	.	.	ENSG00000243789;ENSG00000168970;ENSG00000168970;ENSG00000168970	ENST00000397299;ENST00000542534;ENST00000382448;ENST00000342159	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	4.24	2.13	0.27403	.	0.000000	0.47455	D	0.000232	D	0.86460	0.5938	M	0.93898	3.47	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.973;0.997;0.999	D	0.89347	0.3658	10	0.72032	D	0.01	0.4641	12.7778	0.57459	0.2929:0.707:0.0:0.0	.	43;43;43	P0C869-7;P0C869-6;P0C870	.;.;JMJD7_HUMAN	W	43	ENSP00000380467:R43W;ENSP00000441905:R43W;ENSP00000371886:R43W;ENSP00000342785:R43W	ENSP00000380467:R43W	R	+	1	2	JMJD7-PLA2G4B;JMJD7	39914292	1.000000	0.71417	0.999000	0.59377	0.911000	0.54048	2.165000	0.42396	1.100000	0.41517	0.655000	0.94253	CGG		0.602	JMJD7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326082.1	NM_001114632		12	189	0	0	0	0.013537	0	12	189				
LILRA1	11024	broad.mit.edu	37	19	55106130	55106130	+	Splice_Site	SNP	G	G	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:55106130G>A	ENST00000251372.3	+	4	253	c.71G>A	c.(70-72)gGg>gAg	p.G24E	LILRA1_ENST00000453777.1_Splice_Site_p.G24E|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	24					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.G24E(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TTCCTTCCAGGGACCCTCCCC	0.587																																						ENST00000453777.1																			1	Substitution - Missense(1)	p.G24E(1)	central_nervous_system(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.e4-1		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1							55.0	59.0	57.0					19																	55106130		2203	4300	6503	SO:0001630	splice_region_variant	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106130G>A	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.71-1G>A	19.37:g.55106130G>A			Somatic				LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000251372.3_Splice_Site_p.G24_splice|LILRB1_ENST00000396321.2_Intron	p.G24_splice	NM_001278318.1	NP_001265247.1	WXS	Illumina GAIIx	Phase_I	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	4	241	+			24					O75018|Q3MJA6	Splice_Site	SNP	ENST00000251372.3	37	c.70_splice	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	G	9.608	1.130539	0.21041	.	.	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.00527	6.82;6.79	1.58	1.58	0.23477	Immunoglobulin-like fold (1);	0.925333	0.08964	N	0.868253	T	0.00845	0.0028	M	0.64630	1.985	0.22511	N	0.999036	D;P	0.54601	0.967;0.717	P;B	0.52909	0.713;0.32	T	0.54497	-0.8285	9	.	.	.	.	6.6677	0.23050	0.0:0.0:1.0:0.0	.	24;24	O75019-2;O75019	.;LIRA1_HUMAN	E	24	ENSP00000251372:G24E;ENSP00000413715:G24E	.	G	+	2	0	LILRA1	59797942	0.010000	0.17322	0.735000	0.30896	0.025000	0.11179	-0.299000	0.08254	1.198000	0.43158	0.194000	0.17425	GGG		0.587	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863	Missense_Mutation	32	142	0	0	0	0.013726	0	32	142				
RP11-423O2.5	0	broad.mit.edu	37	1	142803621	142803621	+	lincRNA	SNP	T	T	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:142803621T>C	ENST00000423385.1	-	0	1344																											TGGAAGAaactaatatctgtt	0.303																																						ENST00000423385.1																			0																																																			0							g.chr1:142803621T>C																													1.37:g.142803621T>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	1344	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.303	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			9	164	0	0	0	0.004007	0	9	164				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																653390							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		6	95	0	0	0	0.004482	0	6	95				
SLC25A21	89874	broad.mit.edu	37	14	37194883	37194883	+	Splice_Site	SNP	C	C	G			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:37194883C>G	ENST00000331299.5	-	6	846		c.e6-1		SLC25A21_ENST00000555449.1_Splice_Site	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21						cellular nitrogen compound metabolic process (GO:0034641)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TGGCGAATGTCTAGAAAAATT	0.358																																						ENST00000331299.5																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9						c.e6-1		solute carrier family 25 (mitochondrial oxoadipate carrier), member 21							74.0	71.0	72.0					14																	37194883		2203	4300	6503	SO:0001630	splice_region_variant	89874				lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding	g.chr14:37194883C>G	AJ278148	CCDS9663.1, CCDS55913.1	14q13.3	2014-01-28	2012-03-29		ENSG00000183032	ENSG00000183032		"""Solute carriers"""	14411	protein-coding gene	gene with protein product		607571	"""solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21"""			11083877	Standard	NM_030631		Approved	ODC1, ODC	uc001wtz.2	Q9BQT8	OTTHUMG00000140250	ENST00000331299.5:c.331-1G>C	14.37:g.37194883C>G			Somatic				SLC25A21_ENST00000555449.1_Splice_Site		NM_030631.3	NP_085134.1	WXS	Illumina GAIIx	Phase_I	Q9BQT8	ODC_HUMAN	Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)	6	846	-	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)							A8K0L0|G3V4L5|Q3MJ99	Splice_Site	SNP	ENST00000331299.5	37		CCDS9663.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848068	0.51164	.	.	ENSG00000183032	ENST00000555449;ENST00000331299	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3324	0.94297	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC25A21	36264634	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	5.940000	0.70187	2.569000	0.86673	0.650000	0.86243	.		0.358	SLC25A21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276732.2	NM_030631	Intron	12	124	0	0	0	0.010729	0	12	124				
EIF3L	51386	broad.mit.edu	37	22	38247400	38247400	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr22:38247400T>C	ENST00000412331.2	+	3	778	c.196T>C	c.(196-198)Ttg>Ctg	p.L66L	ANKRD54_ENST00000609454.1_5'Flank|EIF3L_ENST00000476955.1_3'UTR|EIF3L_ENST00000406934.1_5'UTR|EIF3L_ENST00000381683.6_Silent_p.L66L	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGTCTCAGATTTGATTGACCA	0.438																																						ENST00000412331.2																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(196-198)Ttg>Ctg		eukaryotic translation initiation factor 3, subunit L							92.0	85.0	87.0					22																	38247400		2203	4300	6503	SO:0001819	synonymous_variant	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38247400T>C	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.196T>C	22.37:g.38247400T>C			Somatic				EIF3L_ENST00000476955.1_3'UTR|EIF3L_ENST00000406934.1_5'UTR|EIF3L_ENST00000381683.6_Silent_p.L66L	p.L66L	NM_016091.3	NP_057175.1	WXS	Illumina GAIIx	Phase_I	Q9Y262	EIF3L_HUMAN			3	778	+			66						Silent	SNP	ENST00000412331.2	37	c.196T>C	CCDS13960.1																																																																																				0.438	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		4	135	0	0	0	0.009096	0	4	135				
EHHADH	1962	broad.mit.edu	37	3	184953206	184953206	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:184953206T>C	ENST00000231887.3	-	3	298	c.223A>G	c.(223-225)Aca>Gca	p.T75A	EHHADH_ENST00000456310.1_5'UTR|EHHADH_ENST00000475987.1_5'UTR	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	75	Enoyl-CoA hydratase / isomerase.		T -> I (in dbSNP:rs1062553). {ECO:0000269|PubMed:8188243}.		fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			TGTCCCAGTGTAAGGCCAAAT	0.493																																						ENST00000231887.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.(223-225)Aca>Gca		enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NADH(DB00157)						59.0	56.0	57.0					3																	184953206		2203	4300	6503	SO:0001583	missense	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184953206T>C	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.223A>G	3.37:g.184953206T>C	ENSP00000231887:p.Thr75Ala		Somatic				EHHADH_ENST00000456310.1_5'UTR|EHHADH_ENST00000475987.1_5'UTR	p.T75A	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	WXS	Illumina GAIIx	Phase_I	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		3	298	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		75		T -> I (in dbSNP:rs1062553).	Enoyl-CoA hydratase / isomerase.		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	c.223A>G	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	T	9.739	1.164469	0.21538	.	.	ENSG00000113790	ENST00000537544;ENST00000231887	T	0.67865	-0.29	5.55	-11.1	0.00147	Crotonase, core (1);	1.862110	0.02321	N	0.073037	T	0.38453	0.1041	N	0.17800	0.525	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32955	-0.9887	10	0.10636	T	0.68	3.2226	2.1963	0.03912	0.2837:0.4894:0.1228:0.1041	.	75	Q08426	ECHP_HUMAN	A	75	ENSP00000231887:T75A	ENSP00000231887:T75A	T	-	1	0	EHHADH	186435900	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.617000	0.02051	-3.373000	0.00176	-2.426000	0.00216	ACA		0.493	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			5	119	0	0	0	0.001168	0	5	119				
GREB1	9687	broad.mit.edu	37	2	11774455	11774455	+	Silent	SNP	C	C	T	rs368127534		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:11774455C>T	ENST00000381486.2	+	29	5490	c.5190C>T	c.(5188-5190)aaC>aaT	p.N1730N	GREB1_ENST00000234142.5_Silent_p.N1730N|GREB1_ENST00000396123.1_Silent_p.N728N	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1730						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TGACCCAGAACGTGCAGTACA	0.657																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(5188-5190)aaC>aaT		growth regulation by estrogen in breast cancer 1							35.0	37.0	36.0					2																	11774455		2100	4232	6332	SO:0001819	synonymous_variant	9687					integral to membrane		g.chr2:11774455C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.5190C>T	2.37:g.11774455C>T			Somatic				GREB1_ENST00000396123.1_Silent_p.N728N|GREB1_ENST00000234142.5_Silent_p.N1730N	p.N1730N	NM_014668.3	NP_055483.2	WXS	Illumina GAIIx	Phase_I	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	29	5490	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1730					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	c.5190C>T	CCDS42655.1																																																																																				0.657	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		5	33	0	0	0	0.000602	0	5	33				
MON2	23041	broad.mit.edu	37	12	62918364	62918364	+	Silent	SNP	C	C	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:62918364C>A	ENST00000393632.2	+	9	1445	c.1054C>A	c.(1054-1056)Cga>Aga	p.R352R	MON2_ENST00000552115.1_Silent_p.R352R|MON2_ENST00000552738.1_Silent_p.R352R|MON2_ENST00000546600.1_Silent_p.R352R|MON2_ENST00000393630.3_Silent_p.R352R|MON2_ENST00000393629.2_Silent_p.R352R|MON2_ENST00000280379.6_Silent_p.R352R	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	352					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		ACAGTGGCTACGAGCTGTTGC	0.343																																						ENST00000393630.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57						c.(1054-1056)Cga>Aga		MON2 homolog (S. cerevisiae)							60.0	64.0	63.0					12																	62918364		2203	4300	6503	SO:0001819	synonymous_variant	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62918364C>A		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.1054C>A	12.37:g.62918364C>A			Somatic				MON2_ENST00000393629.2_Silent_p.R352R|MON2_ENST00000552738.1_Silent_p.R352R|MON2_ENST00000552115.1_Silent_p.R352R|MON2_ENST00000280379.6_Silent_p.R352R|MON2_ENST00000393632.2_Silent_p.R352R|MON2_ENST00000546600.1_Silent_p.R352R	p.R352R	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	WXS	Illumina GAIIx	Phase_I	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	9	1445	+			352					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Silent	SNP	ENST00000393632.2	37	c.1054C>A	CCDS31849.1																																																																																				0.343	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		5	83	1	0	6.31663e-08	0.003163	9.47494e-08	5	83				
SUSD5	26032	broad.mit.edu	37	3	33195040	33195040	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:33195040C>A	ENST00000309558.3	-	5	1501	c.1084G>T	c.(1084-1086)Gtg>Ttg	p.V362L		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	362					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTGCTCACCACTGGATCTCCT	0.552																																						ENST00000309558.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(1084-1086)Gtg>Ttg		sushi domain containing 5							106.0	110.0	108.0					3																	33195040		2124	4248	6372	SO:0001583	missense	26032				cell adhesion	integral to membrane	hyaluronic acid binding	g.chr3:33195040C>A	AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.1084G>T	3.37:g.33195040C>A	ENSP00000308727:p.Val362Leu		Somatic					p.V362L	NM_015551.1	NP_056366.1	WXS	Illumina GAIIx	Phase_I	O60279	SUSD5_HUMAN			5	1501	-			362						Missense_Mutation	SNP	ENST00000309558.3	37	c.1084G>T	CCDS46787.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.768011	0.00645	.	.	ENSG00000173705	ENST00000309558	T	0.06528	3.29	5.31	1.94	0.25998	.	1.135350	0.06349	N	0.709584	T	0.04679	0.0127	N	0.22421	0.69	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.46569	-0.9182	10	0.09590	T	0.72	-5.6378	7.6367	0.28270	0.0:0.445:0.0:0.555	.	362	O60279	SUSD5_HUMAN	L	362	ENSP00000308727:V362L	ENSP00000308727:V362L	V	-	1	0	SUSD5	33170044	0.000000	0.05858	0.006000	0.13384	0.117000	0.20001	0.038000	0.13862	0.203000	0.20529	0.650000	0.86243	GTG		0.552	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054		15	95	1	0	0.000308642	0.003163	0.00043573	15	95				
FAT4	79633	broad.mit.edu	37	4	126238838	126238838	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:126238838C>A	ENST00000394329.3	+	1	1285	c.1272C>A	c.(1270-1272)agC>agA	p.S424R		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	424	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S424R(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGGTGGCCAGCGCCTTGGACC	0.597											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394329.3																			2	Substitution - Missense(2)	p.S424R(2)	prostate(2)	NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(1270-1272)agC>agA		FAT atypical cadherin 4							36.0	39.0	38.0					4																	126238838		2035	4190	6225	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126238838C>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.1272C>A	4.37:g.126238838C>A	ENSP00000377862:p.Ser424Arg		Somatic	OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1548		p.S424R	NM_024582.4	NP_078858.4	WXS	Illumina GAIIx	Phase_I	Q6V0I7	FAT4_HUMAN			1	1285	+			424			Cadherin 4.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.1272C>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911205	0.33721	.	.	ENSG00000196159	ENST00000394329	T	0.50001	0.76	4.66	2.94	0.34122	Cadherin (4);Cadherin-like (1);	0.430293	0.17056	U	0.188732	T	0.30572	0.0769	N	0.03903	-0.33	0.80722	D	1	D	0.58970	0.984	P	0.53450	0.726	T	0.03017	-1.1082	10	0.15952	T	0.53	.	7.8532	0.29468	0.0:0.6096:0.0:0.3904	.	424	Q6V0I7	FAT4_HUMAN	R	424	ENSP00000377862:S424R	ENSP00000377862:S424R	S	+	3	2	FAT4	126458288	0.987000	0.35691	1.000000	0.80357	0.967000	0.64934	0.195000	0.17155	0.587000	0.29643	0.561000	0.74099	AGC		0.597	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		10	92	1	0	1.76689e-08	0.006214	2.73584e-08	10	92				
RP11-93K22.13	0	broad.mit.edu	37	3	129811972	129811972	+	lincRNA	SNP	G	G	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:129811972G>C	ENST00000514010.1	-	0	157				ALG1L2_ENST00000507643.1_RNA																							TTGACGGACAGAACCTTCCTT	0.408																																						ENST00000514010.1																			0																				81.0	64.0	69.0					3																	129811972		692	1591	2283			0							g.chr3:129811972G>C																													3.37:g.129811972G>C			Somatic				ALG1L2_ENST00000507643.1_RNA				WXS	Illumina GAIIx	Phase_I					0	157	-									RNA	SNP	ENST00000514010.1	37																																																																																						0.408	RP11-93K22.13-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000358040.1			4	135	0	0	0	0.009096	0	4	135				
KIAA1143	57456	broad.mit.edu	37	3	44794950	44794950	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:44794950T>C	ENST00000296121.4	-	3	407	c.348A>G	c.(346-348)tcA>tcG	p.S116S	KIAA1143_ENST00000484437.1_5'UTR	NM_020696.3	NP_065747.1	Q96AT1	K1143_HUMAN	KIAA1143	116										NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		TCTTCTTTTTTGAGCTTGCTG	0.373																																						ENST00000296121.4																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5						c.(346-348)tcA>tcG		KIAA1143							77.0	80.0	79.0					3																	44794950		2203	4297	6500	SO:0001819	synonymous_variant	57456							g.chr3:44794950T>C	AB032969	CCDS2721.1	3p21.31	2005-08-15			ENSG00000163807	ENSG00000163807			29198	protein-coding gene	gene with protein product						10574461	Standard	NM_020696		Approved		uc011bac.2	Q96AT1	OTTHUMG00000133088	ENST00000296121.4:c.348A>G	3.37:g.44794950T>C			Somatic				KIAA1143_ENST00000484437.1_5'UTR	p.S116S	NM_020696.3	NP_065747.1	WXS	Illumina GAIIx	Phase_I	Q96AT1	K1143_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)	3	407	-			116					A8K0I4|Q96HJ8|Q9ULS7	Silent	SNP	ENST00000296121.4	37	c.348A>G	CCDS2721.1																																																																																				0.373	KIAA1143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256746.1	NM_020696		5	344	0	0	0	0.000602	0	5	344				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			5	120	0	0	0	0.001168	0	5	120				
ANGPT1	284	broad.mit.edu	37	8	108276471	108276471	+	Silent	SNP	T	T	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:108276471T>C	ENST00000520734.1	-	7	999	c.714A>G	c.(712-714)aaA>aaG	p.K238K	ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Silent_p.K237K			Q15389	ANGP1_HUMAN	angiopoietin 1	438					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TGAGGGCACATTTGCACATAC	0.433																																						ENST00000520734.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43						c.(712-714)aaA>aaG		angiopoietin 1							134.0	113.0	120.0					8																	108276471		2203	4300	6503	SO:0001819	synonymous_variant	284				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	g.chr8:108276471T>C	D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"""Fibrinogen C domain containing"""	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.714A>G	8.37:g.108276471T>C			Somatic				ANGPT1_ENST00000520052.1_Silent_p.K237K|ANGPT1_ENST00000518386.1_5'UTR	p.K238K			WXS	Illumina GAIIx	Phase_I	Q15389	ANGP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		7	999	-	Breast(1;5.06e-08)		438					Q5HYA0	Silent	SNP	ENST00000520734.1	37	c.714A>G																																																																																					0.433	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		37	110	0	0	0	0.004878	0	37	110				
CPA5	93979	broad.mit.edu	37	7	130008311	130008311	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:130008311G>A	ENST00000485477.1	+	12	2313	c.1184G>A	c.(1183-1185)aGc>aAc	p.S395N	CPA5_ENST00000355388.3_Missense_Mutation_p.S395N|CPA5_ENST00000461828.1_Missense_Mutation_p.S395N|CPA5_ENST00000393213.3_Missense_Mutation_p.S395N|CPA5_ENST00000474905.1_Missense_Mutation_p.S395N|CPA5_ENST00000431780.2_Missense_Mutation_p.A367T|CPA5_ENST00000466363.2_Missense_Mutation_p.S395N			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	395						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TACGCCTTCAGCTTTGAGCTC	0.567																																						ENST00000485477.1																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23						c.(1183-1185)aGc>aAc		carboxypeptidase A5							153.0	134.0	140.0					7																	130008311		2203	4300	6503	SO:0001583	missense	93979				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130008311G>A	AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.1184G>A	7.37:g.130008311G>A	ENSP00000420237:p.Ser395Asn		Somatic				CPA5_ENST00000393213.3_Missense_Mutation_p.S395N|CPA5_ENST00000474905.1_Missense_Mutation_p.S395N|CPA5_ENST00000466363.2_Missense_Mutation_p.S395N|CPA5_ENST00000461828.1_Missense_Mutation_p.S395N|CPA5_ENST00000431780.2_Missense_Mutation_p.A367T|CPA5_ENST00000355388.3_Missense_Mutation_p.S395N	p.S395N			WXS	Illumina GAIIx	Phase_I	Q8WXQ8	CBPA5_HUMAN			12	2313	+	Melanoma(18;0.0435)		395					G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	ENST00000485477.1	37	c.1184G>A	CCDS5819.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.47|14.47	2.546222|2.546222	0.45383|0.45383	.|.	.|.	ENSG00000158525|ENSG00000158525	ENST00000431780;ENST00000479492|ENST00000355388;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000474905;ENST00000393213	T|T;T;T;T;T;T	0.12774|0.03386	2.65|3.95;3.95;3.95;3.95;3.95;3.95	5.81|5.81	0.429|0.429	0.16506|0.16506	.|Peptidase M14, carboxypeptidase A (2);	.|0.335361	.|0.29480	.|N	.|0.012032	T|T	0.06280|0.06280	0.0162|0.0162	L|L	0.49126|0.49126	1.545|1.545	0.26105|0.26105	N|N	0.980764|0.980764	P|P	0.35272|0.36495	0.493|0.556	B|B	0.30495|0.43018	0.116|0.405	T|T	0.19224|0.19224	-1.0312|-1.0312	8|9	.|.	.|.	.|.	.|.	13.7715|13.7715	0.63029|0.63029	0.0:0.5372:0.3683:0.0945|0.0:0.5372:0.3683:0.0945	.|.	367|395	G3V0G8|Q8WXQ8	.|CBPA5_HUMAN	T|N	367;44|395	ENSP00000393045:A367T|ENSP00000347549:S395N;ENSP00000418183:S395N;ENSP00000419025:S395N;ENSP00000420237:S395N;ENSP00000417314:S395N;ENSP00000376907:S395N	.|.	A|S	+|+	1|2	0|0	CPA5|CPA5	129795547|129795547	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.021000|0.021000	0.10359|0.10359	2.040000|2.040000	0.41203|0.41203	0.065000|0.065000	0.16485|0.16485	-0.181000|-0.181000	0.13052|0.13052	GCT|AGC		0.567	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441		69	226	0	0	0	0.014410	0	69	226				
IGSF3	3321	broad.mit.edu	37	1	117142736	117142736	+	Missense_Mutation	SNP	A	A	G	rs138851517	byFrequency	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:117142736A>G	ENST00000369486.3	-	7	2621	c.1856T>C	c.(1855-1857)aTc>aCc	p.I619T	IGSF3_ENST00000318837.6_Missense_Mutation_p.I639T|IGSF3_ENST00000369483.1_Missense_Mutation_p.I639T	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	619	Ig-like C2-type 5.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGCCTTCTCGATGGCAGTTCG	0.627													A|||	10	0.00199681	0.0023	0.0029	5008	,	,		16651	0.001		0.001	False		,,,				2504	0.0031					ENST00000369486.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(1855-1857)aTc>aCc		immunoglobulin superfamily, member 3																																				SO:0001583	missense	3321					integral to membrane		g.chr1:117142736A>G	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1856T>C	1.37:g.117142736A>G	ENSP00000358498:p.Ile619Thr		Somatic				IGSF3_ENST00000318837.6_Missense_Mutation_p.I639T|IGSF3_ENST00000369483.1_Missense_Mutation_p.I639T	p.I619T	NM_001007237.1	NP_001007238.1	WXS	Illumina GAIIx	Phase_I	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	7	2621	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	619			Ig-like C2-type 5.		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.1856T>C	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.096884	0.56075	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.15256	2.44;2.44;2.44	4.8	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.132915	0.52532	D	0.000079	T	0.06096	0.0158	N	0.19112	0.55	0.48571	D	0.999675	B;B;B	0.30914	0.162;0.3;0.195	B;B;B	0.33454	0.069;0.164;0.114	T	0.16837	-1.0389	10	0.51188	T	0.08	-37.2914	12.3358	0.55067	1.0:0.0:0.0:0.0	.	639;619;639	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	T	619;639;639	ENSP00000358498:I619T;ENSP00000358495:I639T;ENSP00000321184:I639T	ENSP00000321184:I639T	I	-	2	0	IGSF3	116944259	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.960000	0.76036	2.001000	0.58596	0.374000	0.22700	ATC		0.627	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		3	45	0	0	0	0.001984	0	3	45				
PPP1R3F	89801	broad.mit.edu	37	X	49142980	49142980	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:49142980G>T	ENST00000055335.6	+	4	1844	c.1828G>T	c.(1828-1830)Gta>Tta	p.V610L	PPP1R3F_ENST00000495799.1_Missense_Mutation_p.V264L|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.V264L|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.V281L|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.V264L	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	610					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CCGTTCTGTGGTAGCCACGAT	0.617																																						ENST00000055335.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27						c.(1828-1830)Gta>Tta		protein phosphatase 1, regulatory subunit 3F							34.0	25.0	28.0					X																	49142980		2203	4300	6503	SO:0001583	missense	89801					integral to membrane		g.chrX:49142980G>T		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1828G>T	X.37:g.49142980G>T	ENSP00000055335:p.Val610Leu		Somatic				PPP1R3F_ENST00000466508.1_Missense_Mutation_p.V264L|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.V281L|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.V264L|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.V264L	p.V610L	NM_033215.4	NP_149992.3	WXS	Illumina GAIIx	Phase_I	Q6ZSY5	PPR3F_HUMAN			4	1844	+	Ovarian(276;0.236)		610					A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	ENST00000055335.6	37	c.1828G>T	CCDS35254.1	.	.	.	.	.	.	.	.	.	.	G	9.177	1.022658	0.19433	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.60548	0.62;0.62;0.18;0.62;0.62	5.15	1.59	0.23543	.	0.761986	0.11643	N	0.543614	T	0.34774	0.0909	N	0.14661	0.345	0.20821	N	0.999848	B;B;B	0.19583	0.037;0.037;0.012	B;B;B	0.18561	0.022;0.022;0.01	T	0.21759	-1.0236	10	0.18276	T	0.48	-0.5973	6.7106	0.23274	0.4118:0.0:0.5882:0.0	.	281;295;610	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	L	264;281;610;264;264	ENSP00000420687:V264L;ENSP00000415548:V281L;ENSP00000055335:V610L;ENSP00000417535:V264L;ENSP00000365359:V264L	ENSP00000055335:V610L	V	+	1	0	PPP1R3F	49029924	0.999000	0.42202	0.660000	0.29694	0.851000	0.48451	0.647000	0.24812	-0.049000	0.13379	0.513000	0.50165	GTA		0.617	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		6	33	1	0	1.12685e-05	0.004482	1.61459e-05	6	33				
TEX264	51368	broad.mit.edu	37	3	51708285	51708285	+	Splice_Site	SNP	A	A	T			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:51708285A>T	ENST00000415259.1	+	2	1047		c.e2-1		TEX264_ENST00000416589.1_Splice_Site|TEX264_ENST00000395057.1_Splice_Site|TEX264_ENST00000341333.5_Splice_Site|TEX264_ENST00000457573.1_Splice_Site			Q9Y6I9	TX264_HUMAN	testis expressed 264							extracellular vesicular exosome (GO:0070062)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		TCTCCTTTGCAGCTGCCTTGA	0.587																																						ENST00000415259.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7						c.e2-1		testis expressed 264							50.0	53.0	52.0					3																	51708285		2202	4300	6502	SO:0001630	splice_region_variant	51368					extracellular region		g.chr3:51708285A>T	AF072733	CCDS2833.1, CCDS74945.1	3p21	2007-03-13	2007-03-13		ENSG00000164081	ENSG00000164081			30247	protein-coding gene	gene with protein product			"""testis expressed gene 264"", ""testis expressed sequence 264"""			12975309	Standard	NM_001243725		Approved	ZSIG11, FLJ13935	uc003dbm.4	Q9Y6I9	OTTHUMG00000156901	ENST00000415259.1:c.-34-1A>T	3.37:g.51708285A>T			Somatic				TEX264_ENST00000395057.1_Splice_Site|TEX264_ENST00000457573.1_Splice_Site|TEX264_ENST00000341333.5_Splice_Site|TEX264_ENST00000416589.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9Y6I9	TX264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)	2	1047	+								B3KN87|Q9UKD7	Splice_Site	SNP	ENST00000415259.1	37		CCDS2833.1																																																																																				0.587	TEX264-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346530.1	NM_015926	Intron	32	118	0	0	0	0.013726	0	32	118				
GOLGA8DP	100132979	broad.mit.edu	37	15	22709666	22709666	+	RNA	SNP	T	T	G	rs4369632		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:22709666T>G	ENST00000314246.8	-	0	1118				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CCTCTCCAGCTTCTCTACCCG	0.557																																						ENST00000314246.8																			0																																																			100132979							g.chr15:22709666T>G			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709666T>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	1118	-									RNA	SNP	ENST00000314246.8	37			.	.	.	.	.	.	.	.	.	.	G	4.096	0.015924	0.07959	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.921	-0.442	0.12253	.	.	.	.	.	T	0.25382	0.0617	.	.	.	.	.	.	B	0.06786	0.001	B	0.08055	0.003	T	0.19976	-1.0289	6	0.48119	T	0.1	.	2.9552	0.05874	0.4007:0.0:0.0:0.5993	rs4369632	74	F8WBT8	.	T	74;74;292	.	ENSP00000327024:K74T	K	-	2	0	AC116165.1	20261030	0.595000	0.26857	0.024000	0.17045	0.010000	0.07245	2.216000	0.42871	-0.137000	0.11455	0.228000	0.17796	AAG		0.557	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		13	586	0	0	0	0.002450	0	13	586				
SLC2A5	6518	broad.mit.edu	37	1	9101933	9101934	+	Frame_Shift_Ins	INS	-	-	C	rs148745114		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:9101933_9101934insC	ENST00000377424.4	-	5	660_661	c.481_482insG	c.(481-483)gctfs	p.A161fs	SLC2A5_ENST00000536305.1_Frame_Shift_Ins_p.A102fs|SLC2A5_ENST00000535586.1_Frame_Shift_Ins_p.A46fs|SLC2A5_ENST00000377414.3_Frame_Shift_Ins_p.A161fs	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	161					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CACCCCGAGAGCCCCCCGCAGG	0.53																																						ENST00000377424.4																			0				endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36						c.(481-483)tctfs		solute carrier family 2 (facilitated glucose/fructose transporter), member 5																																				SO:0001589	frameshift_variant	6518				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity	g.chr1:9101933_9101934insC	BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"""Solute carriers"""	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.482dupG	1.37:g.9101939_9101939dupC	ENSP00000366641:p.Ala161fs		Somatic				SLC2A5_ENST00000536305.1_Frame_Shift_Ins_p.S102fs|SLC2A5_ENST00000535586.1_Frame_Shift_Ins_p.S46fs|SLC2A5_ENST00000377414.3_Frame_Shift_Ins_p.S161fs	p.S161fs	NM_003039.2	NP_003030.1	WXS	Illumina GAIIx	Phase_I	P22732	GTR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	5	660_661	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	161					Q14770|Q5T977|Q8IVB3	Frame_Shift_Ins	INS	ENST00000377424.4	37	c.481_482insG	CCDS99.1																																																																																				0.530	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004932.1	NM_003039		8	297						8	297	---	---	---	---
FBLIM1	54751	broad.mit.edu	37	1	16091532	16091533	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:16091532_16091533insC	ENST00000375766.3	+	3	694_695	c.54_55insC	c.(55-57)cccfs	p.P19fs	FBLIM1_ENST00000375771.1_Frame_Shift_Ins_p.P19fs|FBLIM1_ENST00000332305.5_Frame_Shift_Ins_p.P19fs|FBLIM1_ENST00000441801.2_Frame_Shift_Ins_p.P19fs|FBLIM1_ENST00000400773.1_Frame_Shift_Ins_p.P19fs	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	19	Filamin-binding.|Intrinsically disordered.				cell junction assembly (GO:0034329)|regulation of cell shape (GO:0008360)|regulation of integrin activation (GO:0033623)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|stress fiber (GO:0001725)	filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		TCACCCTGGCACCCCCGCGCCG	0.653																																						ENST00000375766.3																			0				large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16						c.(52-57)gcccccfs		filamin binding LIM protein 1																																				SO:0001589	frameshift_variant	54751				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	g.chr1:16091532_16091533insC		CCDS163.1, CCDS30609.1, CCDS44064.1	1p36.13	2014-04-07			ENSG00000162458	ENSG00000162458			24686	protein-coding gene	gene with protein product		607747				12679033, 12496242	Standard	XM_005245900		Approved	FBLP-1, CAL, migfilin	uc001axe.1	Q8WUP2	OTTHUMG00000003079	ENST00000375766.3:c.59dupC	1.37:g.16091537_16091537dupC	ENSP00000364921:p.Pro19fs		Somatic				FBLIM1_ENST00000400773.1_Frame_Shift_Ins_p.AP18fs|FBLIM1_ENST00000441801.2_Frame_Shift_Ins_p.AP18fs|FBLIM1_ENST00000332305.5_Frame_Shift_Ins_p.AP18fs|FBLIM1_ENST00000375771.1_Frame_Shift_Ins_p.AP18fs	p.AP18fs	NM_017556.2	NP_060026.2	WXS	Illumina GAIIx	Phase_I	Q8WUP2	FBLI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)	3	694_695	+		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	18			Filamin-binding.		B3KNY0|Q5VVE0|Q5VVE1|Q8IX23|Q96T00|Q9UFD6	Frame_Shift_Ins	INS	ENST00000375766.3	37	c.54_55insC	CCDS163.1																																																																																				0.653	FBLIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008511.3	NM_001024215		8	854						8	854	---	---	---	---
SPEN	23013	broad.mit.edu	37	1	16259479	16259480	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:16259479_16259480insC	ENST00000375759.3	+	11	6948_6949	c.6744_6745insC	c.(6745-6747)cccfs	p.P2249fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2249	Interaction with MSX2. {ECO:0000250}.|RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.A2251fs*102(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAGATCTGCAACCCCCCGCAGG	0.554																																						ENST00000375759.3																			1	Deletion - Frameshift(1)	p.A2251fs*102(1)	large_intestine(1)	NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(6742-6747)caccccfs		spen family transcriptional repressor																																				SO:0001589	frameshift_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16259479_16259480insC		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.6750dupC	1.37:g.16259485_16259485dupC	ENSP00000364912:p.Pro2249fs		Somatic					p.HP2248fs	NM_015001.2	NP_055816.2	WXS	Illumina GAIIx	Phase_I	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	6948_6949	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	2248			Interaction with MSX2 (By similarity).|RID.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Ins	INS	ENST00000375759.3	37	c.6744_6745insC	CCDS164.1																																																																																				0.554	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		13	321						13	321	---	---	---	---
PADI3	51702	broad.mit.edu	37	1	17603074	17603075	+	Frame_Shift_Ins	INS	-	-	C	rs148039282	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:17603074_17603075insC	ENST00000375460.3	+	12	1408_1409	c.1368_1369insC	c.(1369-1371)cccfs	p.P457fs	MIR3972_ENST00000582732.1_RNA	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	457					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGAAGGTGCAGCCCCCCGTGGA	0.564																																						ENST00000375460.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1366-1371)caccccfs		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)																																			SO:0001589	frameshift_variant	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17603074_17603075insC	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1374dupC	1.37:g.17603080_17603080dupC	ENSP00000364609:p.Pro457fs		Somatic					p.HP456fs	NM_016233.2	NP_057317.2	WXS	Illumina GAIIx	Phase_I	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	12	1408_1409	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	456					Q58EY7|Q70SX5	Frame_Shift_Ins	INS	ENST00000375460.3	37	c.1368_1369insC	CCDS179.1																																																																																				0.564	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			7	204						7	204	---	---	---	---
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)tccfs	p.S344fs	PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.S354fs|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515																																						ENST00000373839.3																			1	Deletion - Frameshift(1)	p.P356fs*33(1)	ovary(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(1030-1032)cccfs		phosphatase and actin regulator 4																																				SO:0001589	frameshift_variant	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28800272_28800273insC	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1037dupC	1.37:g.28800279_28800279dupC	ENSP00000362945:p.Ser344fs		Somatic				PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs	p.P344fs	NM_001048183.1	NP_001041648.1	WXS	Illumina GAIIx	Phase_I	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	7	1291_1292	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	344			Pro-rich.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Frame_Shift_Ins	INS	ENST00000373839.3	37	c.1030_1031insC	CCDS41293.1																																																																																				0.515	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		11	257						11	257	---	---	---	---
YTHDF2	51441	broad.mit.edu	37	1	29069012	29069013	+	Frame_Shift_Ins	INS	-	-	G	rs377196196|rs11553689		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:29069012_29069013insG	ENST00000373812.3	+	4	592_593	c.230_231insG	c.(229-234)acggggfs	p.TG77fs	YTHDF2_ENST00000542507.1_Frame_Shift_Ins_p.TG77fs|YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_Frame_Shift_Ins_p.TG27fs	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	77	Localization to mRNA processing bodies (P-bodies).				humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTGGTCTACGGGGGGTGACA	0.505																																						ENST00000373812.3																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(229-231)aggfs		YTH domain family, member 2																																				SO:0001589	frameshift_variant	51441				humoral immune response			g.chr1:29069012_29069013insG	AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"""YTH domain family 2"""			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.236dupG	1.37:g.29069018_29069018dupG	ENSP00000362918:p.Thr77fs		Somatic				YTHDF2_ENST00000542507.1_Frame_Shift_Ins_p.R77fs|YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_Frame_Shift_Ins_p.R27fs	p.R77fs	NM_016258.2	NP_057342.2	WXS	Illumina GAIIx	Phase_I	Q9Y5A9	YTHD2_HUMAN		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	4	592_593	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	77					A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Frame_Shift_Ins	INS	ENST00000373812.3	37	c.230_231insG	CCDS41296.1																																																																																				0.505	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010335.1	NM_016258		8	601						8	601	---	---	---	---
PHC2	1912	broad.mit.edu	37	1	33799791	33799792	+	Frame_Shift_Ins	INS	-	-	G	rs34753508		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:33799791_33799792insG	ENST00000257118.5	-	9	1710_1711	c.1657_1658insC	c.(1657-1659)cagfs	p.Q553fs	MIR3605_ENST00000583214.1_RNA|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373418.3_Frame_Shift_Ins_p.Q18fs|RN7SKP16_ENST00000410180.1_RNA|PHC2_ENST00000373422.3_Frame_Shift_Ins_p.Q159fs|PHC2_ENST00000373416.1_Frame_Shift_Ins_p.Q18fs|PHC2_ENST00000419414.2_Frame_Shift_Ins_p.Q554fs|PHC2_ENST00000431992.1_Frame_Shift_Ins_p.Q524fs	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	553					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTCACCATTCTGGGGGGCAGTG	0.589																																						ENST00000257118.5																			0				autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(1657-1659)gaafs		polyhomeotic homolog 2 (Drosophila)																																				SO:0001589	frameshift_variant	1912				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	g.chr1:33799791_33799792insG	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1658dupC	1.37:g.33799797_33799797dupG	ENSP00000257118:p.Gln553fs		Somatic				PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373416.1_Frame_Shift_Ins_p.E18fs|PHC2_ENST00000373418.3_Frame_Shift_Ins_p.E18fs|PHC2_ENST00000431992.1_Frame_Shift_Ins_p.E524fs|PHC2_ENST00000419414.2_Frame_Shift_Ins_p.E554fs|PHC2_ENST00000373422.3_Frame_Shift_Ins_p.E159fs	p.E553fs	NM_198040.2	NP_932157.1	WXS	Illumina GAIIx	Phase_I	Q8IXK0	PHC2_HUMAN			9	1710_1711	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	553					A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Frame_Shift_Ins	INS	ENST00000257118.5	37	c.1657_1658insC	CCDS378.1																																																																																				0.589	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		7	172						7	172	---	---	---	---
CSF3R	1441	broad.mit.edu	37	1	36935322	36935323	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:36935322_36935323insG	ENST00000373106.1	-	11	1951_1952	c.1404_1405insC	c.(1402-1407)cccagcfs	p.S469fs	CSF3R_ENST00000373103.1_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.S469fs|CSF3R_ENST00000487540.2_5'UTR|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_ENST00000418048.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.R469fs|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_ENST00000331941.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000487540.2_5'UTR	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	122						10	122	---	---	---	---
SZT2	23334	broad.mit.edu	37	1	43896326	43896327	+	Frame_Shift_Ins	INS	-	-	G	rs541972325	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:43896326_43896327insG	ENST00000562955.1	+	31	4469_4470	c.4469_4470insG	c.(4468-4473)ttggggfs	p.LG1490fs	SZT2_ENST00000372442.1_Frame_Shift_Ins_p.LG648fs	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1547					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TTCAGTATCTTGGGGGGCGACT	0.609																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(4468-4470)tggfs		seizure threshold 2 homolog (mouse)																																				SO:0001589	frameshift_variant	23334					peroxisome		g.chr1:43896326_43896327insG	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4475dupG	1.37:g.43896332_43896332dupG	ENSP00000457168:p.Leu1490fs		Somatic				SZT2_ENST00000372442.1_Frame_Shift_Ins_p.W648fs	p.W1490fs	NM_015284.3	NP_056099.3	WXS	Illumina GAIIx	Phase_I	Q5T011	SZT2_HUMAN			31	4469_4470	+			1547					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Frame_Shift_Ins	INS	ENST00000562955.1	37	c.4469_4470insG	CCDS30694.2																																																																																				0.609	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		14	822						14	822	---	---	---	---
ELAVL4	1996	broad.mit.edu	37	1	50666498	50666499	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:50666498_50666499insC	ENST00000371823.4	+	7	1015_1016	c.791_792insC	c.(790-795)gtccccfs	p.VP264fs	ELAVL4_ENST00000448907.2_Intron|ELAVL4_ENST00000371819.1_Intron|ELAVL4_ENST00000371821.1_Frame_Shift_Ins_p.VP269fs|ELAVL4_ENST00000371827.1_Intron|ELAVL4_ENST00000357083.4_Intron|ELAVL4_ENST00000371824.1_Intron	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	264					mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TCTGGACCAGTCCCCCCTTCTG	0.53																																						ENST00000371821.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(805-807)gccfs		ELAV like neuron-specific RNA binding protein 4																																				SO:0001589	frameshift_variant	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50666498_50666499insC	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.797dupC	1.37:g.50666504_50666504dupC	ENSP00000360888:p.Val264fs		Somatic				ELAVL4_ENST00000371823.4_Frame_Shift_Ins_p.A264fs|ELAVL4_ENST00000371827.1_Intron|ELAVL4_ENST00000357083.4_Intron|ELAVL4_ENST00000448907.2_Intron|ELAVL4_ENST00000371819.1_Intron|ELAVL4_ENST00000371824.1_Intron	p.A269fs			WXS	Illumina GAIIx	Phase_I	P26378	ELAV4_HUMAN			7	1121_1122	+			264					B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Frame_Shift_Ins	INS	ENST00000371823.4	37	c.806_807insC	CCDS553.1																																																																																				0.530	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		8	544						8	544	---	---	---	---
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G	rs371885641		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)cccactfs	p.T118fs	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.T118fs	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594																																						ENST00000302250.2																			1	Deletion - Frameshift(1)	p.T118fs*43(1)	ovary(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(349-354)ccctatfs		family with sequence similarity 151, member A			,	13,4253		0,13,2120					,	3.2	0.2			92	8,8246		0,8,4119	no	frameshift,intron	ACOT11,FAM151A	NM_176782.2,NM_015547.3	,	0,21,6239	A1A1,A1R,RR		0.0969,0.3047,0.1677	,	,		21,12499				SO:0001589	frameshift_variant	338094					integral to membrane		g.chr1:55081756_55081757insG	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.352dupC	1.37:g.55081763_55081763dupG	ENSP00000306888:p.Thr118fs		Somatic				ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs	p.Y118fs	NM_176782.2	NP_788954.2	WXS	Illumina GAIIx	Phase_I	Q8WW52	F151A_HUMAN			3	511_512	-			118					Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Frame_Shift_Ins	INS	ENST00000302250.2	37	c.351_352insC	CCDS594.1																																																																																				0.594	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782		40	489						40	489	---	---	---	---
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779|rs183693555	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs|FGGY_ENST00000474476.1_3'UTR|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		12	148						12	148	---	---	---	---
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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	152						14	152	---	---	---	---
LOC100129138	100129138	broad.mit.edu	37	1	104615945	104615946	+	lincRNA	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:104615945_104615946insC	ENST00000418362.1	+	0	301_302					NR_033990.1																						GCTTGAGAAGGCCCCCCGACAA	0.559																																						ENST00000418362.1																			0																																																			100129138							g.chr1:104615945_104615946insC																													1.37:g.104615951_104615951dupC			Somatic						NR_033990.1		WXS	Illumina GAIIx	Phase_I					0	301_302	+									RNA	INS	ENST00000418362.1	37																																																																																						0.559	RP11-364B6.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000030377.1			2	4						2	4	---	---	---	---
OVGP1	5016	broad.mit.edu	37	1	111959046	111959047	+	Frame_Shift_Ins	INS	-	-	C	rs552970171		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:111959046_111959047insC	ENST00000369732.3	-	10	1109_1110	c.1054_1055insG	c.(1054-1056)gccfs	p.A352fs	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	352					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CCACACCATGGCCCCCCCAAAA	0.505																																						ENST00000369732.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(1054-1056)catfs		oviductal glycoprotein 1, 120kDa																																				SO:0001589	frameshift_variant	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111959046_111959047insC	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1055dupG	1.37:g.111959053_111959053dupC	ENSP00000358747:p.Ala352fs		Somatic				OVGP1_ENST00000540696.1_3'UTR	p.H352fs	NM_002557.3	NP_002548.3	WXS	Illumina GAIIx	Phase_I	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	10	1109_1110	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	352					A0AV19|B9EGE1|Q15841	Frame_Shift_Ins	INS	ENST00000369732.3	37	c.1054_1055insG	CCDS834.1																																																																																				0.505	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		41	573						41	573	---	---	---	---
FAM212B	55924	broad.mit.edu	37	1	112269658	112269659	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Frame_Shift_Ins_p.K261fs	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	348						8	348	---	---	---	---
IGSF3	3321	broad.mit.edu	37	1	117131467	117131468	+	Frame_Shift_Ins	INS	-	-	C	rs200127721		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:117131467_117131468insC	ENST00000369486.3	-	8	3053_3054	c.2288_2289insG	c.(2287-2289)ggcfs	p.G763fs	IGSF3_ENST00000318837.6_Frame_Shift_Ins_p.G783fs|IGSF3_ENST00000369483.1_Frame_Shift_Ins_p.G783fs	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	763	Ig-like C2-type 6.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.G763D(1)|p.G783D(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GGCTGAACAGGCCCCCCGACAC	0.614																																						ENST00000369486.3																			2	Substitution - Missense(2)	p.G763D(1)|p.G783D(1)	kidney(2)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(2287-2289)gctfs		immunoglobulin superfamily, member 3																																				SO:0001589	frameshift_variant	3321					integral to membrane		g.chr1:117131467_117131468insC	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.2289dupG	1.37:g.117131473_117131473dupC	ENSP00000358498:p.Gly763fs		Somatic				IGSF3_ENST00000318837.6_Frame_Shift_Ins_p.A783fs|IGSF3_ENST00000369483.1_Frame_Shift_Ins_p.A783fs	p.A763fs	NM_001007237.1	NP_001007238.1	WXS	Illumina GAIIx	Phase_I	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	8	3053_3054	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	763			Ig-like C2-type 6.		A6NJZ6|A6NMC7	Frame_Shift_Ins	INS	ENST00000369486.3	37	c.2288_2289insG	CCDS30813.1																																																																																				0.614	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		7	94						7	94	---	---	---	---
NBPF9	400818	broad.mit.edu	37	1	144816001	144816002	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:144816001_144816002insC	ENST00000440491.2	+	4	598_599	c.598_599insC	c.(598-600)gccfs	p.A200fs	NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000338347.4_Frame_Shift_Ins_p.A200fs|NBPF9_ENST00000468645.1_3'UTR	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	458	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						GAAATCGTCTGCCCCCAGGTAA	0.421																																						ENST00000440491.2																			0				NS(2)|prostate(1)	3						c.(598-600)cccfs		neuroblastoma breakpoint family, member 9																																				SO:0001589	frameshift_variant	400818							g.chr1:144816001_144816002insC		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.603dupC	1.37:g.144816006_144816006dupC	ENSP00000390934:p.Ala200fs		Somatic				NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Frame_Shift_Ins_p.P200fs	p.P200fs	NM_001037675.2	NP_001032764.1	WXS	Illumina GAIIx	Phase_I					4	598_599	+									Frame_Shift_Ins	INS	ENST00000440491.2	37	c.598_599insC																																																																																					0.421	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		7	1137						7	1137	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144854629	144854629	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:144854629delC	ENST00000369354.3	-	42	7030	c.6841delG	c.(6841-6843)gaafs	p.E2281fs	PDE4DIP_ENST00000369356.4_Frame_Shift_Del_p.E2281fs|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.E2175fs|PDE4DIP_ENST00000369359.4_Frame_Shift_Del_p.E2417fs|PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.E2366fs			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2281					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTCTCAGTTCCAGAAGTTCC	0.488			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(7249-7251)aafs		phosphodiesterase 4D interacting protein							254.0	217.0	229.0					1																	144854629		2203	4300	6503	SO:0001589	frameshift_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144854629delC	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6841delG	1.37:g.144854629delC	ENSP00000358360:p.Glu2281fs		Somatic				PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.E2366fs|PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.E2175fs|PDE4DIP_ENST00000369354.3_Frame_Shift_Del_p.E2281fs|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Frame_Shift_Del_p.E2281fs	p.E2417fs			WXS	Illumina GAIIx	Phase_I	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	45	7287	-			2281					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Frame_Shift_Del	DEL	ENST00000369354.3	37	c.7249delG	CCDS30824.1																																																																																				0.488	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		8	320						8	320	---	---	---	---
ITGA10	8515	broad.mit.edu	37	1	145534121	145534122	+	Frame_Shift_Ins	INS	-	-	C	rs147270843	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:145534121_145534122insC	ENST00000369304.3	+	14	1801_1802	c.1626_1627insC	c.(1627-1629)cccfs	p.P543fs	ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.P412fs|ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.P400fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	543					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCAGCCAGAACCCCCCCAGGA	0.554																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1624-1629)gaccccfs		integrin, alpha 10																																				SO:0001589	frameshift_variant	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145534121_145534122insC	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1633dupC	1.37:g.145534128_145534128dupC	ENSP00000358310:p.Pro543fs		Somatic				ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs|ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs	p.DP542fs	NM_003637.3	NP_003628.2	WXS	Illumina GAIIx	Phase_I	O75578	ITA10_HUMAN			14	1801_1802	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		542					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Frame_Shift_Ins	INS	ENST00000369304.3	37	c.1626_1627insC	CCDS918.1																																																																																				0.554	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		12	244						12	244	---	---	---	---
PIAS3	10401	broad.mit.edu	37	1	145585532	145585533	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:145585532_145585533insG	ENST00000393045.2	+	14	1887_1888	c.1797_1798insG	c.(1798-1800)gggfs	p.G600fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.G565fs|NUDT17_ENST00000444015.2_5'Flank	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		10	109						10	109	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152325777	152325781	+	Frame_Shift_Del	DEL	TCCAG	TCCAG	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:152325777_152325781delTCCAG	ENST00000388718.5	-	3	4553_4557	c.4481_4485delCTGGA	c.(4480-4485)actggafs	p.TG1494fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1494					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCCCCTTCTTCCAGTTGTACTGGA	0.522																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(4480-4485)afs		filaggrin family member 2																																				SO:0001589	frameshift_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152325777_152325781delTCCAG	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4481_4485delCTGGA	1.37:g.152325777_152325781delTCCAG	ENSP00000373370:p.Thr1494fs		Somatic				FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.TG1494fs	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4553_4557	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1494					Q9H4U1	Frame_Shift_Del	DEL	ENST00000388718.5	37	c.4481_4485delCTGGA	CCDS30861.1																																																																																				0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		22	552						22	552	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152329462	152329463	+	Frame_Shift_Ins	INS	-	-	AGCTG			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:152329462_152329463insAGCTG	ENST00000388718.5	-	3	871_872	c.799_800insCAGCT	c.(799-801)tgtfs	p.C267fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	267	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAACCTGAACAGCTAGACCCA	0.455																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(799-801)ttcfs		filaggrin family member 2																																				SO:0001589	frameshift_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152329462_152329463insAGCTG	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.799_800insCAGCT	1.37:g.152329462_152329463insAGCTG	ENSP00000373370:p.Cys267fs		Somatic				FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.F267fs	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	871_872	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		267			Ser-rich.		Q9H4U1	Frame_Shift_Ins	INS	ENST00000388718.5	37	c.799_800insCAGCT	CCDS30861.1																																																																																				0.455	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		38	123						38	123	---	---	---	---
PGLYRP4	57115	broad.mit.edu	37	1	153317810	153317811	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:153317810_153317811insC	ENST00000359650.5	-	4	251_252	c.187_188insG	c.(187-189)gcafs	p.A63fs	PGLYRP4_ENST00000490266.1_5'UTR|PGLYRP4_ENST00000368739.3_Frame_Shift_Ins_p.A59fs	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	63					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACAGCTTCTGCCCCCCATGCC	0.589																																						ENST00000368739.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.(175-177)agafs		peptidoglycan recognition protein 4																																				SO:0001589	frameshift_variant	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153317810_153317811insC	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.188dupG	1.37:g.153317816_153317816dupC	ENSP00000352672:p.Ala63fs		Somatic				PGLYRP4_ENST00000359650.5_Frame_Shift_Ins_p.R63fs|PGLYRP4_ENST00000490266.1_5'UTR	p.R59fs			WXS	Illumina GAIIx	Phase_I	Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	533_534	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		63					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Frame_Shift_Ins	INS	ENST00000359650.5	37	c.175_176insG	CCDS30871.1																																																																																				0.589	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		14	626						14	626	---	---	---	---
SLC27A3	11000	broad.mit.edu	37	1	153745515	153745516	+	5'Flank	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:153745515_153745516insC	ENST00000368661.3	+	0	0				INTS3_ENST00000435409.2_Frame_Shift_Ins_p.P1004fs|SLC27A3_ENST00000271857.2_5'Flank|INTS3_ENST00000456435.1_Frame_Shift_Ins_p.P864fs|INTS3_ENST00000318967.2_Frame_Shift_Ins_p.P1004fs|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000512605.1_Frame_Shift_Ins_p.P864fs	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3						fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATGCCACACAGCCCCCCAATGC	0.604																																						ENST00000456435.1																			0				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(2587-2592)caccccfs		integrator complex subunit 3																																				SO:0001631	upstream_gene_variant	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153745515_153745516insC	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155		1.37:g.153745521_153745521dupC	Exception_encountered		Somatic				INTS3_ENST00000318967.2_Frame_Shift_Ins_p.HP1003fs|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Frame_Shift_Ins_p.HP1003fs|INTS3_ENST00000512605.1_Frame_Shift_Ins_p.HP863fs	p.HP863fs			WXS	Illumina GAIIx	Phase_I	Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		28	3775_3776	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		1004					Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Frame_Shift_Ins	INS	ENST00000368661.3	37	c.2589_2590insC	CCDS1053.1																																																																																				0.604	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		8	390						8	390	---	---	---	---
CASQ1	844	broad.mit.edu	37	1	160168790	160168790	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:160168790delA	ENST00000368078.3	+	9	1127	c.931delA	c.(931-933)actfs	p.T311fs	CASQ1_ENST00000368079.3_Frame_Shift_Del_p.T305fs|CASQ1_ENST00000467691.1_Frame_Shift_Del_p.T32fs			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	311					endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCAAGATAACACTGAAAACCC	0.502																																						ENST00000368079.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21						c.(913-915)ctfs		calsequestrin 1 (fast-twitch, skeletal muscle)							158.0	145.0	149.0					1																	160168790		2203	4300	6503	SO:0001589	frameshift_variant	844					mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding	g.chr1:160168790delA	S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"""Protein disulfide isomerases"""	1512	protein-coding gene	gene with protein product	"""calsequestrin 1, fast-twitch, skeletal muscle"", ""calmitine"""	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.931delA	1.37:g.160168790delA	ENSP00000357057:p.Thr311fs		Somatic				CASQ1_ENST00000467691.1_Frame_Shift_Del_p.T32fs|CASQ1_ENST00000368078.3_Frame_Shift_Del_p.T311fs	p.T305fs	NM_001231.4	NP_001222.3	WXS	Illumina GAIIx	Phase_I	P31415	CASQ1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		9	1188	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		311					B1AKZ2|B2R863|Q8TBW7	Frame_Shift_Del	DEL	ENST00000368078.3	37	c.913delA	CCDS1198.2																																																																																				0.502	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1	NM_001231		7	416						7	416	---	---	---	---
B4GALT3	8703	broad.mit.edu	37	1	161142084	161142085	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:161142084_161142085insG	ENST00000319769.5	-	7	1062_1063	c.840_841insC	c.(838-843)cccacafs	p.T281fs	PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000367998.1_Frame_Shift_Ins_p.T281fs	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	281					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	CCTACAGATGTGGGGGGCCGAG	0.505																																						ENST00000319769.5																			0				cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18						c.(838-843)cccatcfs		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	N-Acetyl-D-glucosamine(DB00141)																																			SO:0001589	frameshift_variant	8703				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:161142084_161142085insG	BC006099	CCDS1222.1	1q21-q23	2013-02-19			ENSG00000158850	ENSG00000158850		"""Beta 4-glycosyltransferases"""	926	protein-coding gene	gene with protein product		604014				9405390, 9597550	Standard	NM_001199873		Approved	beta4Gal-T3	uc001fys.2	O60512	OTTHUMG00000034348	ENST00000319769.5:c.841dupC	1.37:g.161142090_161142090dupG	ENSP00000320965:p.Thr281fs		Somatic				B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000432542.2_Intron|B4GALT3_ENST00000367998.1_Frame_Shift_Ins_p.I281fs|PPOX_ENST00000535223.1_Intron	p.I281fs	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	WXS	Illumina GAIIx	Phase_I	O60512	B4GT3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		7	1062_1063	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		281					D3DVG3|O60910|Q9BPZ4|Q9H8T2	Frame_Shift_Ins	INS	ENST00000319769.5	37	c.840_841insC	CCDS1222.1																																																																																				0.505	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083054.1	NM_003779		7	340						7	340	---	---	---	---
ADCY10	55811	broad.mit.edu	37	1	167865905	167865906	+	Frame_Shift_Ins	INS	-	-	G	rs35604923		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:167865905_167865906insG	ENST00000367851.4	-	7	850_851	c.666_667insC	c.(664-669)cccaatfs	p.N223fs	ADCY10_ENST00000367848.1_Frame_Shift_Ins_p.N131fs|ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.N70fs	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	223					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAATTAAAATTGGGGGGTGGTT	0.332																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(388-393)ccatttfs		adenylate cyclase 10 (soluble)																																				SO:0001589	frameshift_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167865905_167865906insG	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.667dupC	1.37:g.167865911_167865911dupG	ENSP00000356825:p.Asn223fs		Somatic				ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.F70fs|ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.F223fs	p.F131fs			WXS	Illumina GAIIx	Phase_I	Q96PN6	ADCYA_HUMAN			7	887_888	-			223			Guanylate cyclase 1.		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Frame_Shift_Ins	INS	ENST00000367851.4	37	c.390_391insC	CCDS1265.1																																																																																				0.332	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		8	301						8	301	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176563963	176563964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:176563963_176563964insG	ENST00000367662.3	+	3	2387_2388	c.1223_1224insG	c.(1222-1227)ctggggfs	p.LG408fs	PAPPA2_ENST00000367661.3_Frame_Shift_Ins_p.LG408fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	408					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)	p.L408fs*49(2)|p.L408L(2)		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						TCTTTGCTCCTGGGGGGAGACA	0.574																																						ENST00000367662.3																			4	Deletion - Frameshift(2)|Substitution - coding silent(2)	p.L408fs*49(2)|p.L408L(2)	lung(4)	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.(1222-1224)cggfs		pappalysin 2																																				SO:0001589	frameshift_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176563963_176563964insG	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.1229dupG	1.37:g.176563969_176563969dupG	ENSP00000356634:p.Leu408fs		Somatic				PAPPA2_ENST00000367661.3_Frame_Shift_Ins_p.R408fs	p.R408fs	NM_020318.2	NP_064714.2	WXS	Illumina GAIIx	Phase_I	Q9BXP8	PAPP2_HUMAN			3	2387_2388	+			408					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Frame_Shift_Ins	INS	ENST00000367662.3	37	c.1223_1224insG	CCDS41438.1																																																																																				0.574	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			8	283						8	283	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181549749	181549750	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:181549749_181549750insC	ENST00000367573.2	+	6	788_789	c.788_789insC	c.(787-792)gaccccfs	p.DP263fs	CACNA1E_ENST00000358338.5_Frame_Shift_Ins_p.DP214fs|CACNA1E_ENST00000360108.3_Frame_Shift_Ins_p.DP263fs|CACNA1E_ENST00000367570.1_Frame_Shift_Ins_p.DP263fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Frame_Shift_Ins_p.DP214fs|CACNA1E_ENST00000526775.1_Frame_Shift_Ins_p.DP263fs	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	263					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAAGGATTTGACCCCCCTCACC	0.505																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(787-789)gccfs		calcium channel, voltage-dependent, R type, alpha 1E subunit																																				SO:0001589	frameshift_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181549749_181549750insC	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.794dupC	1.37:g.181549755_181549755dupC	ENSP00000356545:p.Asp263fs		Somatic				CACNA1E_ENST00000367570.1_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000367573.2_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000358338.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000360108.3_Frame_Shift_Ins_p.A263fs	p.A263fs	NM_001205294.1	NP_001192223.1	WXS	Illumina GAIIx	Phase_I	Q15878	CAC1E_HUMAN			6	953_954	+			263					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Frame_Shift_Ins	INS	ENST00000367573.2	37	c.788_789insC	CCDS55664.1																																																																																				0.505	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		12	2946						12	2946	---	---	---	---
SMG7	9887	broad.mit.edu	37	1	183514220	183514221	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:183514220_183514221delCA	ENST00000347615.2	+	16	2262_2263	c.2143_2144delCA	c.(2143-2145)cacfs	p.H715fs	SMG7_ENST00000367537.3_Frame_Shift_Del_p.H698fs|SMG7_ENST00000507469.1_Frame_Shift_Del_p.H669fs|SMG7_ENST00000456731.2_Frame_Shift_Del_p.H627fs|SMG7_ENST00000515829.2_Frame_Shift_Del_p.H669fs|SMG7_ENST00000508461.1_Frame_Shift_Del_p.H673fs	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	715	Gln/Pro-rich.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GAAACAGTCCCACATTCCTTAC	0.545																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2092-2094)cfs		SMG7 nonsense mediated mRNA decay factor																																				SO:0001589	frameshift_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183514220_183514221delCA	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2143_2144delCA	1.37:g.183514222_183514223delCA	ENSP00000340766:p.His715fs		Somatic				SMG7_ENST00000347615.2_Frame_Shift_Del_p.H715fs|SMG7_ENST00000515829.2_Frame_Shift_Del_p.H669fs|SMG7_ENST00000456731.2_Frame_Shift_Del_p.H627fs|SMG7_ENST00000507469.1_Frame_Shift_Del_p.H669fs|SMG7_ENST00000508461.1_Frame_Shift_Del_p.H673fs	p.H698fs			WXS	Illumina GAIIx	Phase_I	Q92540	SMG7_HUMAN			17	2287_2288	+			715			Gln/Pro-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Frame_Shift_Del	DEL	ENST00000347615.2	37	c.2092_2093delCA	CCDS1355.1																																																																																				0.545	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		45	633						45	633	---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-258)atccccfs	p.IP85fs	ATP2B4_ENST00000367219.3_Frame_Shift_Ins_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	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_ENST00000391954.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367218.3_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		14	487						14	487	---	---	---	---
CDK18	5129	broad.mit.edu	37	1	205497018	205497019	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:205497018_205497019insG	ENST00000360066.2	+	9	1127_1128	c.826_827insG	c.(826-828)aggfs	p.R276fs	CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000429964.2_Frame_Shift_Ins_p.R276fs|CDK18_ENST00000506784.1_Frame_Shift_Ins_p.R306fs	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	274	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CATCAACGAGAGGGGGGAGCTG	0.639																																					Pancreas(180;489 2072 28461 40831 44265)	ENST00000360066.2																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						c.(826-828)gggfs		cyclin-dependent kinase 18																																				SO:0001589	frameshift_variant	5129						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity	g.chr1:205497018_205497019insG	X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"""Cyclin-dependent kinases"""	8751	protein-coding gene	gene with protein product		169190	"""PCTAIRE protein kinase 3"""	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.832dupG	1.37:g.205497024_205497024dupG	ENSP00000353176:p.Arg276fs		Somatic				CDK18_ENST00000429964.2_Frame_Shift_Ins_p.G276fs|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Frame_Shift_Ins_p.G306fs	p.G276fs	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	WXS	Illumina GAIIx	Phase_I	Q07002	CDK18_HUMAN			9	1127_1128	+			274			Protein kinase.		Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	Frame_Shift_Ins	INS	ENST00000360066.2	37	c.826_827insG	CCDS44300.1																																																																																				0.639	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090407.2	NM_002596		27	1254						27	1254	---	---	---	---
CDK18	5129	broad.mit.edu	37	1	205497243	205497244	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:205497243_205497244insC	ENST00000360066.2	+	10	1222_1223	c.921_922insC	c.(922-924)cccfs	p.P308fs	CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000429964.2_Frame_Shift_Ins_p.P308fs|CDK18_ENST00000506784.1_Frame_Shift_Ins_p.P338fs	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	306	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						TGTGGTACAGGCCCCCCGATGT	0.609																																					Pancreas(180;489 2072 28461 40831 44265)	ENST00000360066.2																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						c.(919-924)agccccfs		cyclin-dependent kinase 18																																				SO:0001589	frameshift_variant	5129						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity	g.chr1:205497243_205497244insC	X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"""Cyclin-dependent kinases"""	8751	protein-coding gene	gene with protein product		169190	"""PCTAIRE protein kinase 3"""	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.927dupC	1.37:g.205497249_205497249dupC	ENSP00000353176:p.Pro308fs		Somatic				CDK18_ENST00000429964.2_Frame_Shift_Ins_p.SP307fs|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Frame_Shift_Ins_p.SP337fs	p.SP307fs	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	WXS	Illumina GAIIx	Phase_I	Q07002	CDK18_HUMAN			10	1222_1223	+			305			Protein kinase.		Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	Frame_Shift_Ins	INS	ENST00000360066.2	37	c.921_922insC	CCDS44300.1																																																																																				0.609	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090407.2	NM_002596		8	549						8	549	---	---	---	---
IRF6	3664	broad.mit.edu	37	1	209974763	209974764	+	Splice_Site	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr1:209974763_209974764insG	ENST00000367021.3	-	3	170		c.e3-2		IRF6_ENST00000542854.1_Intron	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6						cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GGCCATGATCTGGGGGGGTCAG	0.594										HNSCC(57;0.16)																												ENST00000367021.3																			0				cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28						c.e3-2		interferon regulatory factor 6																																				SO:0001630	splice_region_variant	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209974763_209974764insG	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.3-2->C	1.37:g.209974770_209974770dupG		HNSCC(57;0.16)	Somatic				IRF6_ENST00000542854.1_Intron		NM_006147.3	NP_006138.1	WXS	Illumina GAIIx	Phase_I	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	3	170	-								B4DLE2|D3DT90|F5GWX8|G0ZTL0	Splice_Site	INS	ENST00000367021.3	37		CCDS1492.1																																																																																				0.594	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147	Intron	10	165						10	165	---	---	---	---
NBAS	51594	broad.mit.edu	37	2	15615948	15615949	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:15615948_15615949insTC	ENST00000281513.5	-	14	1228_1229	c.1203_1204insGA	c.(1201-1206)gtgactfs	p.T402fs	NBAS_ENST00000441750.1_Frame_Shift_Ins_p.T402fs	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	402					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CGAGCTAAAGTCACTGCACTGT	0.391																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(1201-1206)gtctttfs		neuroblastoma amplified sequence																																				SO:0001589	frameshift_variant	51594							g.chr2:15615948_15615949insTC	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.1203_1204insGA	2.37:g.15615948_15615949insTC	ENSP00000281513:p.Thr402fs		Somatic				NBAS_ENST00000441750.1_Frame_Shift_Ins_p.F402fs	p.F402fs	NM_015909.3	NP_056993.2	WXS	Illumina GAIIx	Phase_I	A2RRP1	NBAS_HUMAN			14	1228_1229	-			402					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Frame_Shift_Ins	INS	ENST00000281513.5	37	c.1203_1204insGA	CCDS1685.1																																																																																				0.391	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		13	30						13	30	---	---	---	---
ASXL2	55252	broad.mit.edu	37	2	25966872	25966873	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:25966872_25966873insG	ENST00000435504.4	-	13	2626_2627	c.2333_2334insC	c.(2332-2334)ccafs	p.P778fs	ASXL2_ENST00000404843.1_Frame_Shift_Ins_p.P518fs|ASXL2_ENST00000336112.4_Frame_Shift_Ins_p.P750fs|ASXL2_ENST00000272341.4_Frame_Shift_Ins_p.P518fs			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	778					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGAGGCACTGGGGGGGTTTG	0.554																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(2332-2334)cgtfs		additional sex combs like 2 (Drosophila)																																				SO:0001589	frameshift_variant	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25966872_25966873insG			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.2334dupC	2.37:g.25966879_25966879dupG	ENSP00000391447:p.Pro778fs		Somatic				ASXL2_ENST00000336112.4_Frame_Shift_Ins_p.R750fs|ASXL2_ENST00000404843.1_Frame_Shift_Ins_p.R518fs|ASXL2_ENST00000272341.4_Frame_Shift_Ins_p.R518fs	p.R778fs			WXS	Illumina GAIIx	Phase_I	Q76L83	ASXL2_HUMAN			13	2626_2627	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		778					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Frame_Shift_Ins	INS	ENST00000435504.4	37	c.2333_2334insC																																																																																					0.554	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		10	445						10	445	---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40366704	40366705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:40366704_40366705insG	ENST00000403092.1	-	10	2414_2415	c.2381_2382insC	c.(2380-2382)cctfs	p.P794fs	SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Ins_p.P789fs|SLC8A1_ENST00000332839.4_Frame_Shift_Ins_p.P794fs|SLC8A1_ENST00000406785.2_Frame_Shift_Ins_p.P758fs|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000405901.3_Frame_Shift_Ins_p.P789fs|SLC8A1_ENST00000402441.1_Frame_Shift_Ins_p.P758fs|SLC8A1_ENST00000405269.1_Frame_Shift_Ins_p.P758fs|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000542024.1_Frame_Shift_Ins_p.P758fs|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000406391.2_Frame_Shift_Ins_p.P758fs|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Frame_Shift_Ins_p.P786fs			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	794					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGTATTCAGTAGGGGGGACGAA	0.515																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(2272-2274)cacfs		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)																																			SO:0001589	frameshift_variant	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40366704_40366705insG		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2382dupC	2.37:g.40366710_40366710dupG	ENSP00000384763:p.Pro794fs		Somatic				SLC8A1_ENST00000332839.4_Frame_Shift_Ins_p.H794fs|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000406391.2_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Ins_p.H789fs|SLC8A1_ENST00000405269.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000403092.1_Frame_Shift_Ins_p.H794fs|SLC8A1_ENST00000408028.2_Frame_Shift_Ins_p.H786fs|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000405901.3_Frame_Shift_Ins_p.H789fs|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000402441.1_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000542024.1_Frame_Shift_Ins_p.H758fs	p.H758fs			WXS	Illumina GAIIx	Phase_I	P32418	NAC1_HUMAN			7	2462_2463	-			794					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Frame_Shift_Ins	INS	ENST00000403092.1	37	c.2273_2274insC	CCDS1806.1																																																																																				0.515	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		11	654						11	654	---	---	---	---
ABCG5	64240	broad.mit.edu	37	2	44055180	44055181	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:44055180_44055181insC	ENST00000260645.1	-	5	714_715	c.575_576insG	c.(574-576)ggcfs	p.G192fs	ABCG5_ENST00000543989.1_5'UTR|ABCG5_ENST00000405322.1_Frame_Shift_Ins_p.G111fs	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	192	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CCGTGGAAATGCCCCCCAAGCT	0.589																																						ENST00000405322.1																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(331-333)gatfs		ATP-binding cassette, sub-family G (WHITE), member 5																																				SO:0001589	frameshift_variant	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44055180_44055181insC	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.576dupG	2.37:g.44055186_44055186dupC	ENSP00000260645:p.Gly192fs		Somatic				ABCG5_ENST00000260645.1_Frame_Shift_Ins_p.D192fs|ABCG5_ENST00000543989.1_5'UTR	p.D111fs			WXS	Illumina GAIIx	Phase_I	Q9H222	ABCG5_HUMAN			4	1228_1229	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	192			ABC transporter.		Q2T9G2|Q96QZ2|Q96QZ3	Frame_Shift_Ins	INS	ENST00000260645.1	37	c.332_333insG	CCDS1814.1																																																																																				0.589	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436		10	325						10	325	---	---	---	---
FSHR	2492	broad.mit.edu	37	2	49191001	49191002	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:49191001_49191002delGA	ENST00000406846.2	-	10	1077_1078	c.958_959delTC	c.(958-960)tccfs	p.S321fs	FSHR_ENST00000346173.3_Frame_Shift_Del_p.S259fs|FSHR_ENST00000541117.1_Frame_Shift_Del_p.S57fs|FSHR_ENST00000304421.4_Frame_Shift_Del_p.S295fs	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	321					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	GCTGTAGCTGGACTCATTGTCT	0.441									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(958-960)cfs		follicle stimulating hormone receptor	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)																																			SO:0001589	frameshift_variant	2492	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49191001_49191002delGA		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.958_959delTC	2.37:g.49191001_49191002delGA	ENSP00000384708:p.Ser321fs		Somatic				FSHR_ENST00000346173.3_Frame_Shift_Del_p.S259fs|FSHR_ENST00000304421.4_Frame_Shift_Del_p.S295fs|FSHR_ENST00000541117.1_Frame_Shift_Del_p.S57fs	p.S321fs	NM_000145.3	NP_000136.2	WXS	Illumina GAIIx	Phase_I	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1077_1078	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	321					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Frame_Shift_Del	DEL	ENST00000406846.2	37	c.958_959delTC	CCDS1843.1																																																																																				0.441	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			54	248						54	248	---	---	---	---
WBP1	23559	broad.mit.edu	37	2	74685769	74685770	+	Frame_Shift_Ins	INS	-	-	G	rs566524770		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:74685769_74685770insG	ENST00000233615.2	+	1	314_315	c.40_41insG	c.(40-42)tggfs	p.W14fs	WBP1_ENST00000409737.1_Frame_Shift_Ins_p.W14fs|WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000393972.3_Frame_Shift_Ins_p.W14fs	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	14							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CGAGGAGGCCTGGGGGGCACTT	0.634																																						ENST00000393972.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(40-42)gggfs		WW domain binding protein 1																																				SO:0001589	frameshift_variant	23559						WW domain binding	g.chr2:74685769_74685770insG	U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.46dupG	2.37:g.74685775_74685775dupG	ENSP00000233615:p.Trp14fs		Somatic				WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000409737.1_Frame_Shift_Ins_p.G14fs|WBP1_ENST00000233615.2_Frame_Shift_Ins_p.G14fs	p.G14fs			WXS	Illumina GAIIx	Phase_I	Q96G27	WBP1_HUMAN			1	243_244	+			14					B2RE02|O95637	Frame_Shift_Ins	INS	ENST00000233615.2	37	c.40_41insG	CCDS1943.1																																																																																				0.634	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252221.2	NM_012477		8	207						8	207	---	---	---	---
SEMA4F	10505	broad.mit.edu	37	2	74906845	74906846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:74906845_74906846insC	ENST00000357877.2	+	14	1971_1972	c.1822_1823insC	c.(1822-1824)accfs	p.T608fs	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Frame_Shift_Ins_p.T453fs	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	608	Ig-like C2-type.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GACTGCACTCACCCCCCGGCGG	0.629																																						ENST00000357877.2																			0				biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						c.(1822-1824)cccfs		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F																																				SO:0001589	frameshift_variant	10505				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	g.chr2:74906845_74906846insC	AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1828dupC	2.37:g.74906851_74906851dupC	ENSP00000350547:p.Thr608fs		Somatic				SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Frame_Shift_Ins_p.P453fs	p.P608fs	NM_004263.3	NP_004254.2	WXS	Illumina GAIIx	Phase_I	O95754	SEM4F_HUMAN			14	1971_1972	+			608			Ig-like C2-type.		Q542Y7|Q9NS35	Frame_Shift_Ins	INS	ENST00000357877.2	37	c.1822_1823insC	CCDS1955.1																																																																																				0.629	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2	NM_004263		8	360						8	360	---	---	---	---
FABP1	2168	broad.mit.edu	37	2	88425822	88425823	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:88425822_88425823insC	ENST00000295834.3	-	2	210_211	c.112_113insG	c.(112-114)gtgfs	p.V38fs	FABP1_ENST00000393750.3_Frame_Shift_Ins_p.V38fs|FABP1_ENST00000495375.1_5'UTR	NM_001443.2	NP_001434.1	P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	38					cellular lipid metabolic process (GO:0044255)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|intestinal absorption (GO:0050892)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)	apical cortex (GO:0045179)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|peroxisomal matrix (GO:0005782)	antioxidant activity (GO:0016209)|bile acid binding (GO:0032052)|chromatin binding (GO:0003682)|drug binding (GO:0008144)|fatty acid binding (GO:0005504)|long-chain fatty acid transporter activity (GO:0005324)|phospholipid binding (GO:0005543)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						GATTTCCGACACCCCCTTGATA	0.53																																						ENST00000393750.3																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						c.(112-114)gtcfs		fatty acid binding protein 1, liver																																				SO:0001589	frameshift_variant	2168				organ morphogenesis			g.chr2:88425822_88425823insC	M10617	CCDS2001.1	2p11	2013-03-01			ENSG00000163586	ENSG00000163586		"""Fatty acid binding protein family"""	3555	protein-coding gene	gene with protein product		134650				3012800, 17698986	Standard	NM_001443		Approved	L-FABP	uc002sst.2	P07148	OTTHUMG00000130312	ENST00000295834.3:c.113dupG	2.37:g.88425827_88425827dupC	ENSP00000295834:p.Val38fs		Somatic				FABP1_ENST00000295834.3_Frame_Shift_Ins_p.V38fs|FABP1_ENST00000495375.1_5'UTR	p.V38fs			WXS	Illumina GAIIx	Phase_I	P07148	FABPL_HUMAN			2	143_144	-			38						Frame_Shift_Ins	INS	ENST00000295834.3	37	c.112_113insG	CCDS2001.1																																																																																				0.530	FABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252660.1	NM_001443		7	975						7	975	---	---	---	---
FAHD2A	51011	broad.mit.edu	37	2	96078465	96078466	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:96078465_96078466insC	ENST00000233379.4	+	7	988_989	c.835_836insC	c.(835-837)accfs	p.T279fs	FAHD2A_ENST00000447036.1_Frame_Shift_Ins_p.T279fs	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	279							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						CCTAACTGGGACCCCCCCAGGT	0.559																																						ENST00000233379.4																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						c.(835-837)cccfs		fumarylacetoacetate hydrolase domain containing 2A																																				SO:0001589	frameshift_variant	51011						hydrolase activity|metal ion binding	g.chr2:96078465_96078466insC	AF151863	CCDS2014.1	2q11.2	2008-02-05			ENSG00000115042	ENSG00000115042			24252	protein-coding gene	gene with protein product							Standard	NM_016044		Approved	CGI-105	uc002sur.3	Q96GK7	OTTHUMG00000130397	ENST00000233379.4:c.842dupC	2.37:g.96078472_96078472dupC	ENSP00000233379:p.Thr279fs		Somatic				FAHD2A_ENST00000447036.1_Frame_Shift_Ins_p.P279fs	p.P279fs	NM_016044.2	NP_057128.2	WXS	Illumina GAIIx	Phase_I	Q96GK7	FAH2A_HUMAN			7	988_989	+			279					Q9Y3B0	Frame_Shift_Ins	INS	ENST00000233379.4	37	c.835_836insC	CCDS2014.1																																																																																				0.559	FAHD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252778.1	NM_016044		7	77						7	77	---	---	---	---
VWA3B	200403	broad.mit.edu	37	2	98797558	98797559	+	Frame_Shift_Ins	INS	-	-	T	rs143566322		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:98797558_98797559insT	ENST00000477737.1	+	9	1398_1399	c.1194_1195insT	c.(1195-1197)ttgfs	p.L399fs	VWA3B_ENST00000451075.2_Frame_Shift_Ins_p.L249fs|VWA3B_ENST00000435344.1_Frame_Shift_Ins_p.L399fs	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	399										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGAAATATGGCTTGAAGGCCCA	0.48																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(1192-1197)ggtgaafs		von Willebrand factor A domain containing 3B																																				SO:0001589	frameshift_variant	200403							g.chr2:98797558_98797559insT	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.1196dupT	2.37:g.98797560_98797560dupT	ENSP00000417955:p.Leu399fs		Somatic				VWA3B_ENST00000435344.1_Frame_Shift_Ins_p.E399fs|VWA3B_ENST00000451075.2_Frame_Shift_Ins_p.E249fs	p.E399fs	NM_144992.4	NP_659429.4	WXS	Illumina GAIIx	Phase_I	Q502W6	VWA3B_HUMAN			9	1398_1399	+			399					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Frame_Shift_Ins	INS	ENST00000477737.1	37	c.1194_1195insT	CCDS42718.1																																																																																				0.480	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		9	56						9	56	---	---	---	---
SCTR	6344	broad.mit.edu	37	2	120194795	120194795	+	IGR	DEL	A	A	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:120194795delA	ENST00000019103.5	-	0	1865				TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000306406.4_Frame_Shift_Del_p.K118fs|TMEM37_ENST00000409826.1_Frame_Shift_Del_p.K130fs	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor						digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	GTGCGAGGACAAACACTCACA	0.617																																						ENST00000306406.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(352-354)aafs		transmembrane protein 37							143.0	135.0	138.0					2																	120194795		2203	4300	6503	SO:0001628	intergenic_variant	140738					integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr2:120194795delA		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407		2.37:g.120194795delA			Somatic				TMEM37_ENST00000409826.1_Frame_Shift_Del_p.K130fs|TMEM37_ENST00000465296.1_3'UTR	p.K118fs	NM_183240.2	NP_899063.2	WXS	Illumina GAIIx	Phase_I	Q8WXS4	CCGL_HUMAN			2	387	+			118					Q12961|Q13213|Q53T00	Frame_Shift_Del	DEL	ENST00000019103.5	37	c.352delA	CCDS2127.1																																																																																				0.617	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			8	174						8	174	---	---	---	---
CLASP1	23332	broad.mit.edu	37	2	122125357	122125358	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:122125357_122125358insC	ENST00000263710.4	-	35	4081_4082	c.3692_3693insG	c.(3691-3693)ggtfs	p.G1231fs	CLASP1_ENST00000455322.2_Frame_Shift_Ins_p.G1187fs|CLASP1_ENST00000545861.1_Frame_Shift_Ins_p.G938fs|CLASP1_ENST00000541377.1_Frame_Shift_Ins_p.G1170fs|CLASP1_ENST00000397587.3_Frame_Shift_Ins_p.G1171fs|CLASP1_ENST00000409078.3_Frame_Shift_Ins_p.G1164fs|CLASP1_ENST00000541859.1_Frame_Shift_Ins_p.G948fs	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1231					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CTACTTCACTACCCCCCCGGCC	0.634																																						ENST00000263710.4																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47						c.(3691-3693)gagfs		cytoplasmic linker associated protein 1																																				SO:0001589	frameshift_variant	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122125357_122125358insC	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.3693dupG	2.37:g.122125364_122125364dupC	ENSP00000263710:p.Gly1231fs		Somatic				CLASP1_ENST00000397587.3_Frame_Shift_Ins_p.E1171fs|CLASP1_ENST00000409078.3_Frame_Shift_Ins_p.E1164fs|CLASP1_ENST00000541377.1_Frame_Shift_Ins_p.E1170fs|CLASP1_ENST00000545861.1_Frame_Shift_Ins_p.E938fs|CLASP1_ENST00000455322.2_Frame_Shift_Ins_p.E1187fs|CLASP1_ENST00000541859.1_Frame_Shift_Ins_p.E948fs	p.E1231fs	NM_015282.2	NP_056097.1	WXS	Illumina GAIIx	Phase_I	Q7Z460	CLAP1_HUMAN			35	4081_4082	-	Renal(3;0.0496)		1231					B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Frame_Shift_Ins	INS	ENST00000263710.4	37	c.3692_3693insG																																																																																					0.634	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		8	141						8	141	---	---	---	---
SAP130	79595	broad.mit.edu	37	2	128774049	128774050	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:128774049_128774050insG	ENST00000259235.3	-	4	627_628	c.498_499insC	c.(496-501)cccaagfs	p.K167fs	SAP130_ENST00000357702.5_Frame_Shift_Ins_p.K167fs|SAP130_ENST00000259234.6_Frame_Shift_Ins_p.K141fs	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	167	Pro-rich.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CCTGGAACCTTGGGGGGAAGTG	0.53																																						ENST00000357702.5																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.(496-501)ccaggtfs		Sin3A-associated protein, 130kDa																																				SO:0001589	frameshift_variant	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128774049_128774050insG	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.499dupC	2.37:g.128774055_128774055dupG	ENSP00000259235:p.Lys167fs		Somatic				SAP130_ENST00000259234.6_Frame_Shift_Ins_p.G141fs|SAP130_ENST00000259235.3_Frame_Shift_Ins_p.G167fs	p.G167fs	NM_001145928.1	NP_001139400.1	WXS	Illumina GAIIx	Phase_I	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	4	629_630	-	Colorectal(110;0.1)		167			Pro-rich.		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Frame_Shift_Ins	INS	ENST00000259235.3	37	c.498_499insC	CCDS2153.1																																																																																				0.530	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		25	1337						25	1337	---	---	---	---
R3HDM1	23518	broad.mit.edu	37	2	136467651	136467652	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:136467651_136467652insG	ENST00000264160.4	+	22	2851_2852	c.2481_2482insG	c.(2482-2484)gggfs	p.G828fs	R3HDM1_ENST00000410054.1_Frame_Shift_Ins_p.G773fs|R3HDM1_ENST00000409478.1_Frame_Shift_Ins_p.G700fs|R3HDM1_ENST00000329971.3_Frame_Shift_Ins_p.G699fs|R3HDM1_ENST00000409606.1_Frame_Shift_Ins_p.G829fs	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	828							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CGCCACCTGGTGGGGGGATGGT	0.45											OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264160.4																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(2479-2484)ggggggfs		R3H domain containing 1																																				SO:0001589	frameshift_variant	23518						nucleic acid binding	g.chr2:136467651_136467652insG	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.2487dupG	2.37:g.136467657_136467657dupG	ENSP00000264160:p.Gly828fs		Somatic	OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1626	R3HDM1_ENST00000409606.1_Frame_Shift_Ins_p.GG828fs|R3HDM1_ENST00000410054.1_Frame_Shift_Ins_p.GG772fs|R3HDM1_ENST00000329971.3_Frame_Shift_Ins_p.GG698fs|R3HDM1_ENST00000409478.1_Frame_Shift_Ins_p.GG699fs	p.GG827fs	NM_015361.2	NP_056176.2	WXS	Illumina GAIIx	Phase_I	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	22	2851_2852	+			827					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Frame_Shift_Ins	INS	ENST00000264160.4	37	c.2481_2482insG	CCDS2177.1																																																																																				0.450	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		7	635						7	635	---	---	---	---
FIGN	55137	broad.mit.edu	37	2	164467542	164467543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:164467542_164467543insC	ENST00000333129.3	-	3	1113_1114	c.799_800insG	c.(799-801)gcafs	p.A267fs	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	267	Pro-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.A267fs*100(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGGAGGCGGTGCCCCCCCAGGG	0.609																																						ENST00000333129.3																			2	Insertion - Frameshift(2)	p.A267fs*100(2)	large_intestine(2)	breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(799-801)accfs		fidgetin																																				SO:0001589	frameshift_variant	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467542_164467543insC	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.800dupG	2.37:g.164467549_164467549dupC	ENSP00000333836:p.Ala267fs		Somatic				FIGN_ENST00000409634.1_Intron	p.T267fs	NM_018086.2	NP_060556.2	WXS	Illumina GAIIx	Phase_I	Q5HY92	FIGN_HUMAN			3	1113_1114	-			267			Pro-rich.		B3KWM0|Q9H6M5|Q9NVZ9	Frame_Shift_Ins	INS	ENST00000333129.3	37	c.799_800insG	CCDS2221.2																																																																																				0.609	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		15	221						15	221	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2056-2058)gggfs	p.G686fs	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.G686fs|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.G464fs	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_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_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		18	152						18	152	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168102336	168102337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:168102336_168102337insG	ENST00000409195.1	+	9	4523_4524	c.4434_4435insG	c.(4435-4437)cagfs	p.Q1479fs	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.Q1479fs|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.Q1257fs	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1304					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						AGACAGTCACTCAGGAAGATGT	0.371																																						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.(4432-4437)acaggafs		xin actin-binding repeat containing 2																																				SO:0001589	frameshift_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168102336_168102337insG	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	Exception_encountered	2.37:g.168102336_168102337insG	ENSP00000386840:p.Gln1479fs		Somatic				XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.G1479fs|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.G1257fs|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	p.G1479fs	NM_152381.5	NP_689594.4	WXS	Illumina GAIIx	Phase_I	A4UGR9	XIRP2_HUMAN			9	4523_4524	+			1304					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.4434_4435insG	CCDS42769.1																																																																																				0.371	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		11	254						11	254	---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_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			14	187						14	187	---	---	---	---
AC096649.3	0	broad.mit.edu	37	2	176190119	176190259	+	lincRNA	DEL	GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	-	rs538185784|rs6729868|rs558558768|rs186801826|rs66540730|rs576825072|rs556396380|rs377343814	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	ENST00000438963.1	+	0	247																											gctgtgtggcggtatcacaacctctactcagttctactacaaactgtctcaagaactagatttatacaatcatgtacctaagccccgcaacaaaagagtacccattcttccttttgttatcagagcaggagtgctaggtgtgctgtgtggtggtatcacaa	0.44																																						ENST00000438963.1																			0																																																			0							g.chr2:176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT																													2.37:g.176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT			Somatic								WXS	Illumina GAIIx	Phase_I					0	247	+									RNA	DEL	ENST00000438963.1	37																																																																																						0.440	AC096649.3-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000334503.1			188	487						188	487	---	---	---	---
NEUROD1	4760	broad.mit.edu	37	2	182542971	182542972	+	Frame_Shift_Ins	INS	-	-	G	rs201174472|rs387906384		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:182542971_182542972insG	ENST00000295108.3	-	2	1073_1074	c.616_617insC	c.(616-618)cacfs	p.H206fs	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_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		7	102						7	102	---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G	rs567294324		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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_ENST00000433736.2_Frame_Shift_Ins_p.G513fs|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs	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		10	405						10	405	---	---	---	---
MFSD6	54842	broad.mit.edu	37	2	191301838	191301839	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:191301838_191301839insC	ENST00000392328.1	+	3	1407_1408	c.1083_1084insC	c.(1084-1086)cccfs	p.P362fs	MFSD6_ENST00000281416.7_Frame_Shift_Ins_p.P362fs	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	362					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						AGGGGTGTAAGCCCCCCGAGTA	0.579																																						ENST00000392328.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						c.(1081-1086)aaccccfs		major facilitator superfamily domain containing 6																																				SO:0001589	frameshift_variant	54842				transmembrane transport	integral to membrane		g.chr2:191301838_191301839insC		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.1089dupC	2.37:g.191301844_191301844dupC	ENSP00000376141:p.Pro362fs		Somatic				MFSD6_ENST00000281416.7_Frame_Shift_Ins_p.NP361fs	p.NP361fs	NM_017694.3	NP_060164.3	WXS	Illumina GAIIx	Phase_I	Q6ZSS7	MFSD6_HUMAN			3	1407_1408	+			361					D3KSZ4|Q86TH2|Q9NXM3	Frame_Shift_Ins	INS	ENST00000392328.1	37	c.1083_1084insC	CCDS2306.1																																																																																				0.579	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			11	226						11	226	---	---	---	---
HECW2	57520	broad.mit.edu	37	2	197171262	197171263	+	Frame_Shift_Ins	INS	-	-	G	rs144884935	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:197171262_197171263insG	ENST00000260983.3	-	13	2945_2946	c.2763_2764insC	c.(2761-2766)cccgtgfs	p.V922fs	HECW2_ENST00000409111.1_Frame_Shift_Ins_p.V566fs	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	922	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGGAACTTCACGGGGGGAGACT	0.53																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(2761-2766)cctgaafs		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2																																				SO:0001589	frameshift_variant	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197171262_197171263insG	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.2764dupC	2.37:g.197171268_197171268dupG	ENSP00000260983:p.Val922fs		Somatic				HECW2_ENST00000409111.1_Frame_Shift_Ins_p.E566fs	p.E922fs	NM_020760.1	NP_065811.1	WXS	Illumina GAIIx	Phase_I	Q9P2P5	HECW2_HUMAN			13	2945_2946	-			922			Interaction with TP73.		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Frame_Shift_Ins	INS	ENST00000260983.3	37	c.2763_2764insC	CCDS33354.1																																																																																				0.530	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		13	938						13	938	---	---	---	---
ICOS	29851	broad.mit.edu	37	2	204820471	204820472	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:204820471_204820472insG	ENST00000316386.6	+	2	238_239	c.171_172insG	c.(172-174)gggfs	p.G58fs	ICOS_ENST00000435193.1_Frame_Shift_Ins_p.G58fs	NM_012092.3	NP_036224.1	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator	58	Ig-like V-type.				immune response (GO:0006955)|single organismal cell-cell adhesion (GO:0016337)|T cell costimulation (GO:0031295)|T cell tolerance induction (GO:0002517)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.Q60fs*8(1)		breast(1)|large_intestine(1)|lung(4)	6						AGTTGCTGAAAGGGGGGCAAAT	0.386																																						ENST00000316386.6																			1	Insertion - Frameshift(1)	p.Q60fs*8(1)	breast(1)	breast(1)|large_intestine(1)|lung(4)	6						c.(169-174)aaggggfs		inducible T-cell co-stimulator																																				SO:0001589	frameshift_variant	29851				immune response|T cell costimulation	extracellular region		g.chr2:204820471_204820472insG	AB023135	CCDS2363.1	2q33	2014-09-17			ENSG00000163600	ENSG00000163600		"""CD molecules"""	5351	protein-coding gene	gene with protein product	"""activation-inducible lymphocyte immunomediatory molecule"""	604558				9930702, 10617205	Standard	NM_012092		Approved	AILIM, CD278	uc002vam.3	Q9Y6W8	OTTHUMG00000132880	ENST00000316386.6:c.177dupG	2.37:g.204820477_204820477dupG	ENSP00000319476:p.Gly58fs		Somatic				ICOS_ENST00000435193.1_Frame_Shift_Ins_p.KG57fs	p.KG57fs	NM_012092.3	NP_036224.1	WXS	Illumina GAIIx	Phase_I	Q9Y6W8	ICOS_HUMAN			2	238_239	+			57			Ig-like V-type.		Q8N6W8	Frame_Shift_Ins	INS	ENST00000316386.6	37	c.171_172insG	CCDS2363.1																																																																																				0.386	ICOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256369.1	NM_012092		10	614						10	614	---	---	---	---
RUFY4	285180	broad.mit.edu	37	2	218940309	218940310	+	Frame_Shift_Ins	INS	-	-	G	rs377110484		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:218940309_218940310insG	ENST00000344321.7	+	9	1612_1613	c.1094_1095insG	c.(1093-1098)tcggggfs	p.SG365fs	RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000374155.3_Frame_Shift_Ins_p.SG385fs	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	365							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGCAGGGGTCGGGGGGCTCTA	0.594																																						ENST00000374155.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						c.(1153-1155)tggfs		RUN and FYVE domain containing 4																																				SO:0001589	frameshift_variant	285180						metal ion binding	g.chr2:218940309_218940310insG	AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"""Zinc fingers, FYVE domain containing"""	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.1100dupG	2.37:g.218940315_218940315dupG	ENSP00000345900:p.Ser365fs		Somatic				RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Frame_Shift_Ins_p.W365fs	p.W385fs			WXS	Illumina GAIIx	Phase_I	Q6ZNE9	RUFY4_HUMAN		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	1564_1565	+		Renal(207;0.0915)	365					Q6ZR96	Frame_Shift_Ins	INS	ENST00000344321.7	37	c.1154_1155insG																																																																																					0.594	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198483		12	154						12	154	---	---	---	---
RNF25	64320	broad.mit.edu	37	2	219529513	219529514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:219529513_219529514insC	ENST00000295704.2	-	9	1189_1190	c.749_750insG	c.(748-750)ggafs	p.G250fs		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	250					positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I251fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCAATGATTCCCCCCCGCTC	0.564																																						ENST00000295704.2																			1	Insertion - Frameshift(1)	p.I251fs*3(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(748-750)gatfs		ring finger protein 25																																				SO:0001589	frameshift_variant	64320				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:219529513_219529514insC		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"""RING-type (C3HC4) zinc fingers"""	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.750dupG	2.37:g.219529520_219529520dupC	ENSP00000295704:p.Gly250fs		Somatic					p.D250fs	NM_022453.2	NP_071898.2	WXS	Illumina GAIIx	Phase_I	Q96BH1	RNF25_HUMAN		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1189_1190	-		Renal(207;0.0474)	250					A8K0D6|Q53HQ5|Q9H874	Frame_Shift_Ins	INS	ENST00000295704.2	37	c.749_750insG	CCDS2420.1																																																																																				0.564	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	NM_022453		8	251						8	251	---	---	---	---
NYAP2	57624	broad.mit.edu	37	2	226447071	226447072	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:226447071_226447072insC	ENST00000272907.6	+	4	1351_1352	c.938_939insC	c.(937-942)tgccccfs	p.CP313fs	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	313	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												TCAGTGCCATGCCCCCCCAAGG	0.619																																						ENST00000272907.6																			0											c.(937-939)tccfs		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2																																				SO:0001589	frameshift_variant	57624							g.chr2:226447071_226447072insC	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.945dupC	2.37:g.226447078_226447078dupC	ENSP00000272907:p.Cys313fs		Somatic				NYAP2_ENST00000409269.2_Intron	p.S313fs	NM_020864.1	NP_065915.1	WXS	Illumina GAIIx	Phase_I	Q9P242	K1486_HUMAN			4	1351_1352	+			313			Pro-rich.		A2RRN4|Q96NL2	Frame_Shift_Ins	INS	ENST00000272907.6	37	c.938_939insC	CCDS46529.1																																																																																				0.619	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		11	123						11	123	---	---	---	---
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cacfs	p.H202fs	NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.H202fs|NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.H242fs	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		7	105						7	105	---	---	---	---
BHLHE40	8553	broad.mit.edu	37	3	5025346	5025347	+	Frame_Shift_Ins	INS	-	-	C	rs372311096		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:5025346_5025347insC	ENST00000256495.3	+	5	1811_1812	c.1208_1209insC	c.(1207-1212)atccccfs	p.IP403fs		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	403					circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|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)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						CTGAAGCCAATCCCCCCTTTAA	0.485																																						ENST00000256495.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						c.(1207-1209)accfs		basic helix-loop-helix family, member e40																																				SO:0001589	frameshift_variant	8553					Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr3:5025346_5025347insC	AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"""Basic helix-loop-helix proteins"""	1046	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 1"", "" differentiated embryo chondrocyte expressed gene 1"""	604256	"""basic helix-loop-helix domain containing, class B, 2"""	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.1214dupC	3.37:g.5025352_5025352dupC	ENSP00000256495:p.Ile403fs		Somatic					p.T403fs	NM_003670.2	NP_003661.1	WXS	Illumina GAIIx	Phase_I	O14503	BHE40_HUMAN			5	1811_1812	+			403					Q96TD3	Frame_Shift_Ins	INS	ENST00000256495.3	37	c.1208_1209insC	CCDS2565.1																																																																																				0.485	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239244.2	NM_003670		7	917						7	917	---	---	---	---
THUMPD3-AS1	440944	broad.mit.edu	37	3	9390686	9390687	+	RNA	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:9390686_9390687insC	ENST00000468186.1	-	0	6506				RP11-380O24.1_ENST00000491930.2_RNA|RP11-380O24.1_ENST00000517846.1_RNA|RP11-380O24.1_ENST00000518331.1_RNA|RP11-380O24.1_ENST00000466431.2_RNA																							CATGGCAACAGCCCCCCGGGCA	0.52																																						ENST00000491930.2																			0																																																			0							g.chr3:9390686_9390687insC																													3.37:g.9390692_9390692dupC			Somatic				RP11-380O24.1_ENST00000518331.1_RNA				WXS	Illumina GAIIx	Phase_I					0	190	-									RNA	INS	ENST00000468186.1	37																																																																																						0.520	SETD5-AS1-008	KNOWN	basic	antisense	antisense	OTTHUMT00000378422.1			10	865						10	865	---	---	---	---
IL17RE	132014	broad.mit.edu	37	3	9953257	9953258	+	Frame_Shift_Ins	INS	-	-	C	rs9870003	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:9953257_9953258insC	ENST00000383814.3	+	12	1308_1309	c.1203_1204insC	c.(1204-1206)cccfs	p.P402fs	IL17RE_ENST00000421412.1_Frame_Shift_Ins_p.P435fs|IL17RE_ENST00000454190.2_Frame_Shift_Ins_p.P402fs|IL17RE_ENST00000295980.3_Frame_Shift_Ins_p.P402fs	NM_153480.1	NP_705613.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	402			P -> S (in dbSNP:rs9870003).		inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		ACACTTTGGTGCCCCCCGTGTA	0.564																																						ENST00000454190.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21						c.(1201-1206)gtccccfs		interleukin 17 receptor E																																				SO:0001589	frameshift_variant	132014					cytoplasm|extracellular region|integral to membrane	receptor activity	g.chr3:9953257_9953258insC	AF458069	CCDS2589.1, CCDS54552.1	3p25.3	2008-02-05			ENSG00000163701	ENSG00000163701		"""Interleukins and interleukin receptors"""	18439	protein-coding gene	gene with protein product		614995					Standard	NM_153480		Approved	FLJ23658	uc003btu.3	Q8NFR9	OTTHUMG00000128649	ENST00000383814.3:c.1209dupC	3.37:g.9953263_9953263dupC	ENSP00000373325:p.Pro402fs		Somatic				IL17RE_ENST00000295980.3_Frame_Shift_Ins_p.VP401fs|IL17RE_ENST00000383814.3_Frame_Shift_Ins_p.VP401fs|IL17RE_ENST00000421412.1_Frame_Shift_Ins_p.VP434fs	p.VP401fs	NM_001193380.1	NP_001180309.1	WXS	Illumina GAIIx	Phase_I	Q8NFR9	I17RE_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)	12	1288_1289	+			401					B2RB34|B2RNR1|B9EH65|Q6P532|Q8N8H7|Q8N8H8|Q8TEC2	Frame_Shift_Ins	INS	ENST00000383814.3	37	c.1203_1204insC	CCDS2589.1																																																																																				0.564	IL17RE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250529.1	NM_153480		7	184						7	184	---	---	---	---
TATDN2	9797	broad.mit.edu	37	3	10312538	10312539	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:10312538_10312539insG	ENST00000287652.4	+	4	2723_2724	c.1672_1673insG	c.(1672-1674)tggfs	p.W558fs	TATDN2_ENST00000448281.2_Frame_Shift_Ins_p.W558fs|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	558					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GGATCTGGTCTGGGGGGCCTTT	0.505																																						ENST00000287652.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						c.(1672-1674)gggfs		TatD DNase domain containing 2																																				SO:0001589	frameshift_variant	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10312538_10312539insG	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1678dupG	3.37:g.10312544_10312544dupG	ENSP00000287652:p.Trp558fs		Somatic				TATDN2_ENST00000448281.2_Frame_Shift_Ins_p.G558fs|RP11-438J1.1_ENST00000450534.1_3'UTR	p.G558fs	NM_014760.3	NP_055575.3	WXS	Illumina GAIIx	Phase_I	Q93075	TATD2_HUMAN			4	2723_2724	+			558					Q3MIL9|Q5BKU0	Frame_Shift_Ins	INS	ENST00000287652.4	37	c.1672_1673insG	CCDS33698.1																																																																																				0.505	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		12	533						12	533	---	---	---	---
SLC6A1	6529	broad.mit.edu	37	3	11072861	11072862	+	Splice_Site	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:11072861_11072862insG	ENST00000287766.4	+	13	1744		c.e13-1		SLC6A1_ENST00000536032.1_Splice_Site	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1						gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	TTCATCTTGCAGGGGGGTATTT	0.5																																						ENST00000287766.4																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26						c.e13-1		solute carrier family 6 (neurotransmitter transporter), member 1	Cocaine(DB00907)|Tiagabine(DB00906)																																			SO:0001630	splice_region_variant	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11072861_11072862insG		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.1324-1->G	3.37:g.11072867_11072867dupG			Somatic				SLC6A1_ENST00000536032.1_Splice_Site		NM_003042.3	NP_003033.3	WXS	Illumina GAIIx	Phase_I	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	13	1744	+		Ovarian(110;0.0392)						Q8N4K8	Splice_Site	INS	ENST00000287766.4	37		CCDS2603.1																																																																																				0.500	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042	Intron	13	1093						13	1093	---	---	---	---
ANKRD28	23243	broad.mit.edu	37	3	15756165	15756166	+	Splice_Site	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:15756165_15756166insG	ENST00000399451.2	-	9	1274		c.e9-2		ANKRD28_ENST00000383777.1_Splice_Site|ANKRD28_ENST00000497037.1_Splice_Site	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28							nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						ATCTTTACTCTGGGGGGGGAAG	0.361																																						ENST00000399451.2																			0				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						c.e9-2		ankyrin repeat domain 28																																				SO:0001630	splice_region_variant	23243					nucleoplasm	protein binding	g.chr3:15756165_15756166insG	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.907-2->C	3.37:g.15756173_15756173dupG			Somatic				ANKRD28_ENST00000383777.1_Splice_Site|ANKRD28_ENST00000497037.1_Splice_Site		NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	WXS	Illumina GAIIx	Phase_I	O15084	ANR28_HUMAN			9	1274	-								B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Splice_Site	INS	ENST00000399451.2	37		CCDS46769.1																																																																																				0.361	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199	Intron	8	84						8	84	---	---	---	---
GALNT15	117248	broad.mit.edu	37	3	16254154	16254155	+	Frame_Shift_Ins	INS	-	-	C	rs375198104		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:16254154_16254155insC	ENST00000339732.5	+	6	1779_1780	c.1276_1277insC	c.(1276-1278)tccfs	p.S426fs	GALNT15_ENST00000437509.1_Frame_Shift_Ins_p.S426fs	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	426					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)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.S426F(1)									GGATTCCCATTCCCCCCTCGAC	0.55																																						ENST00000339732.5																			1	Substitution - Missense(1)	p.S426F(1)	NS(1)								c.(1276-1278)cccfs		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																																				SO:0001589	frameshift_variant	117248							g.chr3:16254154_16254155insC	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1282dupC	3.37:g.16254160_16254160dupC	ENSP00000344260:p.Ser426fs		Somatic				GALNT15_ENST00000437509.1_Frame_Shift_Ins_p.P426fs	p.P426fs	NM_054110.4	NP_473451.3	WXS	Illumina GAIIx	Phase_I					6	1779_1780	+								A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Frame_Shift_Ins	INS	ENST00000339732.5	37	c.1276_1277insC	CCDS33711.1																																																																																				0.550	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		7	830						7	830	---	---	---	---
THRB	7068	broad.mit.edu	37	3	24164402	24164403	+	Frame_Shift_Ins	INS	-	-	G	rs121918687		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:24164402_24164403insG	ENST00000356447.4	-	10	1642_1643	c.1358_1359insC	c.(1357-1359)cctfs	p.P453fs	THRB_ENST00000280696.5_Frame_Shift_Ins_p.P468fs|THRB_ENST00000396671.2_Frame_Shift_Ins_p.P453fs|THRB_ENST00000416420.1_Frame_Shift_Ins_p.P453fs	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	453	Interaction with NR2F6.|Ligand-binding.		P -> H (in GTHR). {ECO:0000269|PubMed:2153155}.|P -> L (in GTHR). {ECO:0000269|PubMed:19268523}.|P -> S (in GTHR). {ECO:0000269|PubMed:7833659}.|P -> T (in GTHR; dbSNP:rs28933408). {ECO:0000269|PubMed:1619012, ECO:0000269|PubMed:1661299, ECO:0000269|PubMed:19268523, ECO:0000269|PubMed:8514853}.		female courtship behavior (GO:0008050)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of female receptivity (GO:0007621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|sensory perception of sound (GO:0007605)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CCAAGAACAAAGGGGGGAAGAG	0.48																																					Melanoma(21;896 1043 15021 37958)	ENST00000396671.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19	GRCh37	CI062290|CM900208|CP015819	THRB	I|M|X	rs121918687	c.(1357-1359)cttfs		thyroid hormone receptor, beta	Levothyroxine(DB00451)|Liothyronine(DB00279)																																			SO:0001589	frameshift_variant	7068				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr3:24164402_24164403insG		CCDS2641.1	3p24.2	2013-01-16	2011-05-19		ENSG00000151090	ENSG00000151090		"""Nuclear hormone receptors"""	11799	protein-coding gene	gene with protein product	"""avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2"", ""oncogene ERBA2"", ""generalized resistance to thyroid hormone"", ""thyroid hormone receptor beta 1"""	190160	"""thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2)"", ""pituitary resistance to thyroid hormone"", ""thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)"""	ERBA2, PRTH		1973914, 8040303	Standard	NM_000461		Approved	THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH	uc003ccy.4	P10828	OTTHUMG00000130478	ENST00000356447.4:c.1359dupC	3.37:g.24164408_24164408dupG	ENSP00000348827:p.Pro453fs		Somatic				THRB_ENST00000416420.1_Frame_Shift_Ins_p.L453fs|THRB_ENST00000280696.5_Frame_Shift_Ins_p.L468fs|THRB_ENST00000356447.4_Frame_Shift_Ins_p.L453fs	p.L453fs	NM_001128176.2	NP_001121648.1	WXS	Illumina GAIIx	Phase_I	P10828	THB_HUMAN			11	1706_1707	-			453		P -> H (in GTHR).|P -> L (in GTHR).|P -> S (in GTHR).|P -> T (in GTHR; dbSNP:rs28933408).	Interaction with NR2F6.|Ligand-binding.		B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	Frame_Shift_Ins	INS	ENST00000356447.4	37	c.1358_1359insC	CCDS2641.1																																																																																				0.480	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252877.3	NM_000461		11	813						11	813	---	---	---	---
DCLK3	85443	broad.mit.edu	37	3	36759523	36759524	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:36759523_36759524insG	ENST00000416516.2	-	4	2220_2221	c.1730_1731insC	c.(1729-1731)cctfs	p.P577fs	DCLK3_ENST00000498047.1_5'Flank	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	577	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TGTCCCAGTAAGGGGGGAGGAA	0.54																																						ENST00000416516.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(1729-1731)ctafs		doublecortin-like kinase 3																																				SO:0001589	frameshift_variant	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36759523_36759524insG	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.1731dupC	3.37:g.36759529_36759529dupG	ENSP00000394484:p.Pro577fs		Somatic					p.L577fs	NM_033403.1	NP_208382.1	WXS	Illumina GAIIx	Phase_I	Q9C098	DCLK3_HUMAN			4	2220_2221	-			577			Protein kinase.			Frame_Shift_Ins	INS	ENST00000416516.2	37	c.1730_1731insC	CCDS43064.1																																																																																				0.540	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		8	347						8	347	---	---	---	---
VILL	50853	broad.mit.edu	37	3	38043303	38043304	+	Frame_Shift_Ins	INS	-	-	C	rs374442833		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:38043303_38043304insC	ENST00000283713.6	+	13	1697_1698	c.1431_1432insC	c.(1432-1434)cccfs	p.P478fs	VILL_ENST00000383759.2_Frame_Shift_Ins_p.P478fs|VILL_ENST00000465644.1_Frame_Shift_Ins_p.P196fs			O15195	VILL_HUMAN	villin-like	478					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)	p.H480fs*38(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGGCAGCGAGCCCCCCCACTT	0.594																																						ENST00000283713.6																			1	Insertion - Frameshift(1)	p.H480fs*38(1)	ovary(1)	cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(1429-1434)gaccccfs		villin-like				6,4260		0,6,2127						5.0	1.0			127	3,8251		0,3,4124	no	frameshift	VILL	NM_015873.3		0,9,6251	A1A1,A1R,RR		0.0363,0.1406,0.0719				9,12511				SO:0001589	frameshift_variant	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38043303_38043304insC		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.1438dupC	3.37:g.38043310_38043310dupC	ENSP00000283713:p.Pro478fs		Somatic				VILL_ENST00000383759.2_Frame_Shift_Ins_p.DP477fs|VILL_ENST00000465644.1_Frame_Shift_Ins_p.DP195fs	p.DP477fs			WXS	Illumina GAIIx	Phase_I	O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	13	1697_1698	+			477					A8MZP1|Q9BT80|Q9BWH7	Frame_Shift_Ins	INS	ENST00000283713.6	37	c.1431_1432insC	CCDS2670.2																																																																																				0.594	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		8	182						8	182	---	---	---	---
SCN10A	6336	broad.mit.edu	37	3	38739682	38739683	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:38739682_38739683insG	ENST00000449082.2	-	27	5027_5028	c.5028_5029insC	c.(5026-5031)ccctacfs	p.Y1677fs		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1677					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.Y1677fs*21(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GGGTCACAGTAGGGGGGCCCTG	0.589																																						ENST00000449082.2																			1	Deletion - Frameshift(1)	p.Y1677fs*21(1)	pancreas(1)	NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(5026-5031)ccactgfs		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)																																			SO:0001589	frameshift_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38739682_38739683insG	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.5029dupC	3.37:g.38739688_38739688dupG	ENSP00000390600:p.Tyr1677fs		Somatic					p.L1677fs	NM_006514.2	NP_006505.2	WXS	Illumina GAIIx	Phase_I	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	27	5027_5028	-			1677					A6NDQ1	Frame_Shift_Ins	INS	ENST00000449082.2	37	c.5028_5029insC	CCDS33736.1																																																																																				0.589	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		7	477						7	477	---	---	---	---
IP6K2	51447	broad.mit.edu	37	3	48732640	48732641	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:48732640_48732641insC	ENST00000328631.5	-	2	307_308	c.84_85insG	c.(82-87)gggcacfs	p.H29fs	IP6K2_ENST00000431721.2_Frame_Shift_Ins_p.H84fs|IP6K2_ENST00000453202.1_Frame_Shift_Ins_p.H29fs|IP6K2_ENST00000450045.1_Frame_Shift_Ins_p.H83fs|IP6K2_ENST00000417896.1_Frame_Shift_Ins_p.H29fs|IP6K2_ENST00000432678.2_Frame_Shift_Ins_p.H29fs|IP6K2_ENST00000449610.1_Frame_Shift_Ins_p.H29fs|IP6K2_ENST00000340879.4_Frame_Shift_Ins_p.H29fs|IP6K2_ENST00000436134.1_5'UTR|IP6K2_ENST00000443964.1_Frame_Shift_Ins_p.H88fs|IP6K2_ENST00000413298.1_Frame_Shift_Ins_p.H29fs|IP6K2_ENST00000446860.1_Frame_Shift_Ins_p.H87fs	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	29					cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						ACGCATGAGTGCCCCCCGACCT	0.619																																						ENST00000431721.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						c.(247-252)ggactcfs		inositol hexakisphosphate kinase 2																																				SO:0001589	frameshift_variant	51447				negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	g.chr3:48732640_48732641insC	AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"""inositol hexaphosphate kinase 2"""	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.85dupG	3.37:g.48732646_48732646dupC	ENSP00000331103:p.His29fs		Somatic				IP6K2_ENST00000413298.1_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000432678.2_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000340879.4_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000417896.1_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000328631.5_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000436134.1_5'UTR|IP6K2_ENST00000453202.1_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000450045.1_Frame_Shift_Ins_p.L83fs|IP6K2_ENST00000446860.1_Frame_Shift_Ins_p.L87fs|IP6K2_ENST00000449610.1_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000443964.1_Frame_Shift_Ins_p.L88fs	p.L84fs	NM_001190316.1	NP_001177245.1	WXS	Illumina GAIIx	Phase_I	Q9UHH9	IP6K2_HUMAN			3	486_487	-			29					A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Frame_Shift_Ins	INS	ENST00000328631.5	37	c.249_250insG	CCDS2777.1																																																																																				0.619	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257521.2	NM_016291		9	536						9	536	---	---	---	---
QARS	5859	broad.mit.edu	37	3	49137078	49137078	+	Frame_Shift_Del	DEL	C	C	-	rs549522450		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:49137078delC	ENST00000306125.6	-	16	1728	c.1391delG	c.(1390-1392)cgcfs	p.R464fs	QARS_ENST00000470225.1_5'Flank|QARS_ENST00000414533.1_Frame_Shift_Del_p.R453fs			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	464					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GTAGGAAGAGCGTCTGGGGTG	0.577																																						ENST00000306125.6																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(1390-1392)ccfs		glutaminyl-tRNA synthetase	L-Glutamine(DB00130)						63.0	65.0	64.0					3																	49137078		2203	4300	6503	SO:0001589	frameshift_variant	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49137078delC	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1391delG	3.37:g.49137078delC	ENSP00000307567:p.Arg464fs		Somatic				QARS_ENST00000414533.1_Frame_Shift_Del_p.R453fs	p.R464fs			WXS	Illumina GAIIx	Phase_I	P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	16	1728	-			464					B4DWJ2	Frame_Shift_Del	DEL	ENST00000306125.6	37	c.1391delG	CCDS2788.1																																																																																				0.577	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051		8	98						8	98	---	---	---	---
IFRD2	7866	broad.mit.edu	37	3	50325937	50325938	+	Splice_Site	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:50325937_50325938insG	ENST00000429673.2	-	11	1344		c.e11-2		IFRD2_ENST00000484043.1_5'Flank|IFRD2_ENST00000336089.4_Splice_Site|IFRD2_ENST00000417626.2_Splice_Site|IFRD2_ENST00000436390.1_Splice_Site			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2							nucleus (GO:0005634)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTCATTGTTCTGGGGGGCAGAG	0.609																																						ENST00000436390.1																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14						c.e14-2		interferon-related developmental regulator 2				0,4104		0,0,2052						5.9	1.0		dbSNP_130	61	1,8117		0,1,4058	no	splice-3	IFRD2	NM_006764.4		0,1,6110	A1A1,A1R,RR		0.0123,0.0,0.0082				1,12221				SO:0001630	splice_region_variant	7866						binding	g.chr3:50325937_50325938insG	U09585		3p21.3	2008-07-18			ENSG00000214706	ENSG00000214706			5457	protein-coding gene	gene with protein product	"""interferon-related protein"""	602725				9050919	Standard	NM_006764		Approved	SKMc15, SM15, IFNRP	uc011bdp.2	Q12894	OTTHUMG00000156935	ENST00000429673.2:c.1345-2->C	3.37:g.50325943_50325943dupG			Somatic				IFRD2_ENST00000336089.4_Splice_Site|IFRD2_ENST00000417626.2_Splice_Site|IFRD2_ENST00000429673.2_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q12894	IFRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	14	1650	-								Q9BVB4|Q9UJ88	Splice_Site	INS	ENST00000429673.2	37		CCDS46831.1																																																																																				0.609	IFRD2-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006764	Intron	8	402						8	402	---	---	---	---
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G	rs201949188		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(127-129)gggfs	p.G43fs	KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.G43fs|KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.G43fs	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	43	BTB.				protein homooligomerization (GO:0051260)		ankyrin binding (GO:0030506)			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465																																						ENST00000355076.6																			0				endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(124-129)ttggggfs		potassium channel tetramerization domain containing 6																																				SO:0001589	frameshift_variant	200845					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr3:58486771_58486772insG	AK074934	CCDS2891.1	3p21.2	2013-06-20	2013-06-20		ENSG00000168301	ENSG00000168301			22235	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 6"""			21472142	Standard	NM_153331		Approved	MGC27385, KCASH3	uc003dkj.4	Q8NC69	OTTHUMG00000159161	ENST00000355076.6:c.133dupG	3.37:g.58486778_58486778dupG	ENSP00000347188:p.Gly43fs		Somatic				KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs	p.LG42fs	NM_153331.3	NP_699162.3	WXS	Illumina GAIIx	Phase_I	Q8NC69	KCTD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)	2	1109_1110	+			42			BTB.		B3KNI5|Q8NBS6|Q8TCA6	Frame_Shift_Ins	INS	ENST00000355076.6	37	c.126_127insG	CCDS2891.1																																																																																				0.465	KCTD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353591.1	NM_153331		9	297						9	297	---	---	---	---
VGLL3	389136	broad.mit.edu	37	3	87018182	87018183	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:87018182_87018183insC	ENST00000398399.2	-	3	857_858	c.494_495insG	c.(493-495)ggafs	p.G165fs	VGLL3_ENST00000383698.3_Frame_Shift_Ins_p.G165fs	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGGATGAACTCCCCCCAAACA	0.579																																						ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(493-495)ggtfs		vestigial like 3 (Drosophila)																																				SO:0001589	frameshift_variant	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87018182_87018183insC	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.495dupG	3.37:g.87018188_87018188dupC	ENSP00000381436:p.Gly165fs		Somatic				VGLL3_ENST00000383698.3_Frame_Shift_Ins_p.G165fs	p.G165fs	NM_016206.2	NP_057290.2	WXS	Illumina GAIIx	Phase_I	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	3	857_858	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	165						Frame_Shift_Ins	INS	ENST00000398399.2	37	c.494_495insG	CCDS43110.1																																																																																				0.579	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		8	406						8	406	---	---	---	---
MINA	84864	broad.mit.edu	37	3	97668725	97668726	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:97668725_97668726insG	ENST00000333396.7	-	7	1604_1605	c.1022_1023insC	c.(1021-1023)cctfs	p.P341fs	MINA_ENST00000394198.2_Frame_Shift_Ins_p.P341fs|MINA_ENST00000360258.4_Frame_Shift_Ins_p.P340fs	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3			MYC induced nuclear antigen									p.P340R(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						CCGCAGAGTAAGGGGGGAGTCT	0.51																																						ENST00000333396.6																			1	Substitution - Missense(1)	p.P340R(1)	ovary(1)	breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						c.(1021-1023)ctafs		MYC induced nuclear antigen																																				SO:0001589	frameshift_variant	84864				ribosome biogenesis	cytoplasm|nucleolus		g.chr3:97668725_97668726insG	AB083189	CCDS2929.1, CCDS43114.1	3q22.1	2005-07-22			ENSG00000170854	ENSG00000170854			19441	protein-coding gene	gene with protein product		612049				12091391	Standard	NM_001042533		Approved	MINA53, FLJ14393, mdig	uc003dsb.1	Q8IUF8	OTTHUMG00000160107	ENST00000333396.7:c.1023dupC	3.37:g.97668731_97668731dupG	ENSP00000328251:p.Pro341fs		Somatic				MINA_ENST00000394198.2_Frame_Shift_Ins_p.L341fs|MINA_ENST00000360258.4_Frame_Shift_Ins_p.L340fs	p.L341fs	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	WXS	Illumina GAIIx	Phase_I	Q8IUF8	MINA_HUMAN			7	1604_1605	-			341						Frame_Shift_Ins	INS	ENST00000333396.7	37	c.1022_1023insC	CCDS43114.1																																																																																				0.510	MINA-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359244.3	NM_032778		7	773						7	773	---	---	---	---
SPICE1	152185	broad.mit.edu	37	3	113172442	113172444	+	In_Frame_Del	DEL	TCG	TCG	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:113172442_113172444delTCG	ENST00000295872.4	-	14	2270_2272	c.2011_2013delCGA	c.(2011-2013)cgadel	p.R671del		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	671					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						AATCAGCAATTCGTGTCATTATG	0.443																																						ENST00000295872.4																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(2011-2013)del		spindle and centriole associated protein 1																																				SO:0001651	inframe_deletion	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113172442_113172444delTCG	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.2011_2013delCGA	3.37:g.113172442_113172444delTCG	ENSP00000295872:p.Arg671del		Somatic					p.R671del	NM_144718.3	NP_653319.1	WXS	Illumina GAIIx	Phase_I	Q8N0Z3	SPICE_HUMAN			14	2270_2272	-			671					D3DN72|Q8WUX6	In_Frame_Del	DEL	ENST00000295872.4	37	c.2011_2013delCGA	CCDS2973.1																																																																																				0.443	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		19	136						19	136	---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113375177	113375178	+	Frame_Shift_Ins	INS	-	-	G	rs370810362		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:113375177_113375178insG	ENST00000478658.1	-	5	5368_5369	c.5351_5352insC	c.(5350-5352)ccafs	p.P1784fs	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Frame_Shift_Ins_p.P1784fs			Q68DE3	K2018_HUMAN	KIAA2018	1784						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.P1784Q(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGTCAATTGGTGGGGGGCCAGT	0.426																																						ENST00000316407.4																			1	Substitution - Missense(1)	p.P1784Q(1)	lung(1)	NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(5350-5352)cccfs		KIAA2018																																				SO:0001589	frameshift_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113375177_113375178insG	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.5352dupC	3.37:g.113375183_113375183dupG	ENSP00000420721:p.Pro1784fs		Somatic				KIAA2018_ENST00000478658.1_Frame_Shift_Ins_p.P1784fs|KIAA2018_ENST00000491165.1_Intron	p.P1784fs	NM_001009899.2	NP_001009899.2	WXS	Illumina GAIIx	Phase_I	Q68DE3	K2018_HUMAN			7	5761_5762	-			1784					Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Ins	INS	ENST00000478658.1	37	c.5351_5352insC	CCDS43133.1																																																																																				0.426	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		11	1009						11	1009	---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113376413	113376417	+	Frame_Shift_Del	DEL	TTGAG	TTGAG	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:113376413_113376417delTTGAG	ENST00000478658.1	-	5	4129_4133	c.4112_4116delCTCAA	c.(4111-4116)actcaafs	p.TQ1371fs	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Frame_Shift_Del_p.TQ1371fs			Q68DE3	K2018_HUMAN	KIAA2018	1371						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGACCATCATTTGAGTTTGGTCAGA	0.473																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(4111-4116)afs		KIAA2018																																				SO:0001589	frameshift_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113376413_113376417delTTGAG	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4112_4116delCTCAA	3.37:g.113376413_113376417delTTGAG	ENSP00000420721:p.Thr1371fs		Somatic				KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.TQ1371fs|KIAA2018_ENST00000491165.1_Intron	p.TQ1371fs	NM_001009899.2	NP_001009899.2	WXS	Illumina GAIIx	Phase_I	Q68DE3	K2018_HUMAN			7	4522_4526	-			1371					Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Del	DEL	ENST00000478658.1	37	c.4112_4116delCTCAA	CCDS43133.1																																																																																				0.473	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		27	239						27	239	---	---	---	---
HGD	3081	broad.mit.edu	37	3	120357337	120357338	+	Frame_Shift_Ins	INS	-	-	C	rs34214309		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:120357337_120357338insC	ENST00000283871.5	-	12	1429_1430	c.970_971insG	c.(970-972)gttfs	p.V324fs		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	324					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CTTATCAGCAACCCCCCATCGA	0.48																																						ENST00000283871.5																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25						c.(970-972)tgcfs		homogentisate 1,2-dioxygenase																																				SO:0001589	frameshift_variant	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120357337_120357338insC		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.971dupG	3.37:g.120357343_120357343dupC	ENSP00000283871:p.Val324fs		Somatic					p.C324fs	NM_000187.3	NP_000178.2	WXS	Illumina GAIIx	Phase_I	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	12	1429_1430	-			324					A8K417|B2R8Z0	Frame_Shift_Ins	INS	ENST00000283871.5	37	c.970_971insG	CCDS3000.1																																																																																				0.480	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1			7	734						7	734	---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121208241	121208242	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:121208241_121208242insT	ENST00000264233.5	-	16	3664_3665	c.3536_3537insA	c.(3535-3537)aacfs	p.N1179fs		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1179					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAACATTCTGGTTTTTTGAACC	0.386								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(3535-3537)acafs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta																																				SO:0001589	frameshift_variant	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121208241_121208242insT	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3537dupA	3.37:g.121208247_121208247dupT	ENSP00000264233:p.Asn1179fs		Somatic					p.T1179fs	NM_199420.3	NP_955452.3	WXS	Illumina GAIIx	Phase_I	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	3664_3665	-			1179					O95160|Q6VMB5	Frame_Shift_Ins	INS	ENST00000264233.5	37	c.3536_3537insA	CCDS33833.1																																																																																				0.386	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		10	1471						10	1471	---	---	---	---
CASR	846	broad.mit.edu	37	3	121973138	121973139	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:121973138_121973139insG	ENST00000490131.1	+	2	474_475	c.102_103insG	c.(103-105)gggfs	p.G35fs	CASR_ENST00000296154.5_Frame_Shift_Ins_p.G35fs|CASR_ENST00000498619.1_Frame_Shift_Ins_p.G35fs	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	35					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ACATTATCCTTGGGGGGCTCTT	0.515																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(100-105)ctggggfs		calcium-sensing receptor	Cinacalcet(DB01012)																																			SO:0001589	frameshift_variant	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:121973138_121973139insG	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.108dupG	3.37:g.121973144_121973144dupG	ENSP00000418685:p.Gly35fs		Somatic				CASR_ENST00000296154.5_Frame_Shift_Ins_p.LG34fs|CASR_ENST00000490131.1_Frame_Shift_Ins_p.LG34fs	p.LG34fs	NM_001178065.1	NP_001171536.1	WXS	Illumina GAIIx	Phase_I	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	2	540_541	+			34					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Frame_Shift_Ins	INS	ENST00000490131.1	37	c.102_103insG	CCDS3010.1																																																																																				0.515	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		7	199						7	199	---	---	---	---
MUC13	56667	broad.mit.edu	37	3	124646628	124646629	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:124646628_124646629insG	ENST00000311075.3	-	2	299_300	c.261_262insC	c.(259-264)cccatafs	p.I88fs	MUC13_ENST00000497378.1_5'Flank	NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	89	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GTACTAATTATGGGGGGAGCAG	0.441																																						ENST00000311075.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						c.(259-264)cctaatfs		mucin 13, cell surface associated																																				SO:0001589	frameshift_variant	56667					extracellular region|integral to membrane|plasma membrane		g.chr3:124646628_124646629insG	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.262dupC	3.37:g.124646634_124646634dupG	ENSP00000312235:p.Ile88fs		Somatic					p.N88fs	NM_033049.3	NP_149038.3	WXS	Illumina GAIIx	Phase_I	Q9H3R2	MUC13_HUMAN			2	299_300	-			88			Thr-rich.		Q6UWD9|Q9NXT5	Frame_Shift_Ins	INS	ENST00000311075.3	37	c.261_262insC																																																																																					0.441	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		7	1030						7	1030	---	---	---	---
MUC13	56667	broad.mit.edu	37	3	124646676	124646677	+	Frame_Shift_Ins	INS	-	-	G	rs529131051		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:124646676_124646677insG	ENST00000311075.3	-	2	251_252	c.213_214insC	c.(211-216)cccatafs	p.I72fs	MUC13_ENST00000497378.1_5'Flank	NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	73	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GTACTAATTATGGGGGGAGCAG	0.46																																						ENST00000311075.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						c.(211-216)cctaatfs		mucin 13, cell surface associated																																				SO:0001589	frameshift_variant	56667					extracellular region|integral to membrane|plasma membrane		g.chr3:124646676_124646677insG	AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.214dupC	3.37:g.124646682_124646682dupG	ENSP00000312235:p.Ile72fs		Somatic					p.N72fs	NM_033049.3	NP_149038.3	WXS	Illumina GAIIx	Phase_I	Q9H3R2	MUC13_HUMAN			2	251_252	-			72			Thr-rich.		Q6UWD9|Q9NXT5	Frame_Shift_Ins	INS	ENST00000311075.3	37	c.213_214insC																																																																																					0.460	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1	NM_033049		9	1029						9	1029	---	---	---	---
BFSP2	8419	broad.mit.edu	37	3	133119040	133119041	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:133119040_133119041insC	ENST00000302334.2	+	1	202_203	c.113_114insC	c.(112-117)agccccfs	p.SP38fs		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	38	Head.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						TCCCTGGAGAGCCCCCCAGCCT	0.653																																						ENST00000302334.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						c.(112-114)accfs		beaded filament structural protein 2, phakinin																																				SO:0001589	frameshift_variant	8419				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr3:133119040_133119041insC	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.119dupC	3.37:g.133119046_133119046dupC	ENSP00000304987:p.Ser38fs		Somatic					p.T38fs	NM_003571.2	NP_003562.1	WXS	Illumina GAIIx	Phase_I	Q13515	BFSP2_HUMAN			1	202_203	+			38			Head.		Q14D32|Q9HBW5	Frame_Shift_Ins	INS	ENST00000302334.2	37	c.113_114insC	CCDS33859.1																																																																																				0.653	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			10	265						10	265	---	---	---	---
PXYLP1	92370	broad.mit.edu	37	3	140997216	140997217	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:140997216_140997217insT	ENST00000286353.4	+	3	249_250	c.112_113insT	c.(112-114)ggafs	p.G38fs	ACPL2_ENST00000502783.1_5'UTR|ACPL2_ENST00000504264.1_Frame_Shift_Ins_p.G21fs|ACPL2_ENST00000508812.1_Frame_Shift_Ins_p.G29fs|ACPL2_ENST00000393010.2_Frame_Shift_Ins_p.G38fs|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000393007.1_Frame_Shift_Ins_p.G22fs	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		38						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						TCCTAAGAATGGAATGAGTAGC	0.564																																						ENST00000508812.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						c.(85-87)aatfs		acid phosphatase-like 2																																				SO:0001589	frameshift_variant	92370					extracellular region	acid phosphatase activity	g.chr3:140997216_140997217insT																												Exception_encountered	3.37:g.140997216_140997217insT	ENSP00000286353:p.Gly38fs		Somatic				ACPL2_ENST00000393010.2_Frame_Shift_Ins_p.N38fs|ACPL2_ENST00000502783.1_5'UTR|ACPL2_ENST00000286353.4_Frame_Shift_Ins_p.N38fs|ACPL2_ENST00000504264.1_Frame_Shift_Ins_p.N21fs|ACPL2_ENST00000393007.1_Frame_Shift_Ins_p.N22fs|RP11-438D8.2_ENST00000507698.1_RNA	p.N29fs			WXS	Illumina GAIIx	Phase_I	Q8TE99	ACPL2_HUMAN			2	1992_1993	+			38					D3DNF5|Q49AJ2|W0TR04	Frame_Shift_Ins	INS	ENST00000286353.4	37	c.85_86insT	CCDS3116.1																																																																																				0.564	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359533.2			9	224						9	224	---	---	---	---
GRK7	131890	broad.mit.edu	37	3	141535707	141535708	+	Frame_Shift_Ins	INS	-	-	G	rs149574289		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:141535707_141535708insG	ENST00000264952.2	+	4	1614_1615	c.1477_1478insG	c.(1477-1479)cggfs	p.R493fs		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	493	AGC-kinase C-terminal.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)	p.R493L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCTGAGGTTCGGGGGGTGGAA	0.46																																						ENST00000264952.2																			1	Substitution - Missense(1)	p.R493L(1)	lung(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1477-1479)gggfs		G protein-coupled receptor kinase 7																																				SO:0001589	frameshift_variant	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141535707_141535708insG		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1483dupG	3.37:g.141535713_141535713dupG	ENSP00000264952:p.Arg493fs		Somatic					p.G493fs	NM_139209.2	NP_631948.1	WXS	Illumina GAIIx	Phase_I	Q8WTQ7	GRK7_HUMAN			4	1614_1615	+			493			AGC-kinase C-terminal.			Frame_Shift_Ins	INS	ENST00000264952.2	37	c.1477_1478insG	CCDS3120.1																																																																																				0.460	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		18	892						18	892	---	---	---	---
TRIM59	286827	broad.mit.edu	37	3	160156831	160156832	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:160156831_160156832insT	ENST00000309784.4	-	3	325_326	c.140_141insA	c.(139-141)tggfs	p.W47fs	TRIM59_ENST00000543469.1_Frame_Shift_Ins_p.W47fs|RP11-432B6.3_ENST00000483754.1_Frame_Shift_Ins_p.W47fs	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	47					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTAAAGGTCTCCATATATAAAA	0.361																																						ENST00000543469.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15						c.(139-141)tagfs		tripartite motif containing 59																																				SO:0001589	frameshift_variant	286827					integral to membrane|intracellular	zinc ion binding	g.chr3:160156831_160156832insT	AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	30834	protein-coding gene	gene with protein product			"""tripartite motif-containing 57"", ""tripartite motif-containing 59"""	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.140_141insA	3.37:g.160156831_160156832insT	ENSP00000311219:p.Trp47fs		Somatic				TRIM59_ENST00000309784.4_Frame_Shift_Ins_p.*47fs|RP11-432B6.3_ENST00000483754.1_Frame_Shift_Ins_p.*47fs	p.*47fs			WXS	Illumina GAIIx	Phase_I	Q8IWR1	TRI59_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		2	354_355	-			47					A8K5G9|D3DNL9	Frame_Shift_Ins	INS	ENST00000309784.4	37	c.140_141insA	CCDS3190.1																																																																																				0.361	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352963.1	NM_173084		23	329						23	329	---	---	---	---
MECOM	2122	broad.mit.edu	37	3	169099148	169099149	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:169099148_169099149insG	ENST00000494292.1	-	2	298_299	c.201_202insC	c.(199-204)cccatcfs	p.I68fs	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	68					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I62V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GGGATGTAGATGGGGGCTTTGT	0.495																																						ENST00000494292.1																			1	Substitution - Missense(1)	p.I62V(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(199-204)cctctafs		MDS1 and EVI1 complex locus																																				SO:0001589	frameshift_variant	2122						sequence-specific DNA binding transcription factor activity	g.chr3:169099148_169099149insG	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000494292.1:c.202dupC	3.37:g.169099153_169099153dupG	ENSP00000417899:p.Ile68fs		Somatic				MECOM_ENST00000485957.1_5'UTR	p.L68fs	NM_004991.3	NP_004982.2	WXS	Illumina GAIIx	Phase_I	Q13465	MDS1_HUMAN			2	298_299	-			68					Q13466|Q6FH90	Frame_Shift_Ins	INS	ENST00000494292.1	37	c.201_202insC																																																																																					0.495	MECOM-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000351517.3	NM_005241, NM_004991		10	1723						10	1723	---	---	---	---
HTR3C	170572	broad.mit.edu	37	3	183777416	183777417	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:183777416_183777417insC	ENST00000318351.1	+	7	947_948	c.913_914insC	c.(913-915)accfs	p.T305fs		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, 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)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	TGCCAGTGGCACCCCCCTCATC	0.584																																						ENST00000318351.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32						c.(913-915)cccfs		5-hydroxytryptamine (serotonin) receptor 3C, ionotropic																																				SO:0001589	frameshift_variant	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183777416_183777417insC	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.919dupC	3.37:g.183777422_183777422dupC	ENSP00000322617:p.Thr305fs		Somatic					p.P305fs	NM_130770.2	NP_570126.2	WXS	Illumina GAIIx	Phase_I	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		7	947_948	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		305					A2RRR5	Frame_Shift_Ins	INS	ENST00000318351.1	37	c.913_914insC	CCDS3250.1																																																																																				0.584	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		12	1112						12	1112	---	---	---	---
MASP1	5648	broad.mit.edu	37	3	186953595	186953596	+	Intron	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:186953595_186953596insC	ENST00000337774.5	-	10	1693				MASP1_ENST00000495249.1_5'Flank|MASP1_ENST00000296280.6_Frame_Shift_Ins_p.G688fs|MASP1_ENST00000392472.2_Frame_Shift_Ins_p.G575fs	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		ATTCTTCAGGTCCCCCCCAGGA	0.569																																						ENST00000296280.6																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60						c.(2062-2064)gccfs		mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)																																				SO:0001627	intron_variant	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186953595_186953596insC	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1303+5672->G	3.37:g.186953602_186953602dupC			Somatic				MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Frame_Shift_Ins_p.A575fs	p.A688fs	NM_139125.3	NP_624302.1	WXS	Illumina GAIIx	Phase_I	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	11	2288_2289	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		669			Peptidase S1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Frame_Shift_Ins	INS	ENST00000337774.5	37	c.2063_2064insG	CCDS33907.1																																																																																				0.569	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1	NM_001879		9	51						9	51	---	---	---	---
UBXN7	26043	broad.mit.edu	37	3	196094916	196094917	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:196094916_196094917insG	ENST00000296328.4	-	8	890_891	c.816_817insC	c.(814-819)cccaaafs	p.K273fs	UBXN7_ENST00000428095.1_Frame_Shift_Ins_p.K111fs|UBXN7_ENST00000535858.1_Frame_Shift_Ins_p.K125fs	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		8	433						8	433	---	---	---	---
LETM1	3954	broad.mit.edu	37	4	1843235	1843236	+	Frame_Shift_Ins	INS	-	-	G	rs559993367		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:1843235_1843236insG	ENST00000302787.2	-	3	728_729	c.432_433insC	c.(430-435)cccgcafs	p.A145fs		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	145					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			ACCACCTCTGCGGGGGGGCTGT	0.604																																						ENST00000302787.2																			0				breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(430-435)cccagafs		leucine zipper-EF-hand containing transmembrane protein 1																																				SO:0001589	frameshift_variant	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1843235_1843236insG	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.433dupC	4.37:g.1843242_1843242dupG	ENSP00000305653:p.Ala145fs		Somatic					p.R145fs	NM_012318.2	NP_036450.1	WXS	Illumina GAIIx	Phase_I	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		3	728_729	-			145					B4DED2|Q9UF65	Frame_Shift_Ins	INS	ENST00000302787.2	37	c.432_433insC	CCDS3355.1																																																																																				0.604	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			7	92						7	92	---	---	---	---
LIMCH1	22998	broad.mit.edu	37	4	41648518	41648519	+	Frame_Shift_Ins	INS	-	-	GAGT			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:41648518_41648519insGAGT	ENST00000313860.7	+	12	1327_1328	c.1273_1274insGAGT	c.(1273-1275)gagfs	p.E425fs	LIMCH1_ENST00000381753.4_Frame_Shift_Ins_p.E259fs|LIMCH1_ENST00000512820.1_Frame_Shift_Ins_p.E413fs|LIMCH1_ENST00000509277.1_Frame_Shift_Ins_p.E259fs|LIMCH1_ENST00000511496.1_Frame_Shift_Ins_p.E266fs|LIMCH1_ENST00000503057.1_Frame_Shift_Ins_p.E810fs|LIMCH1_ENST00000508501.1_Frame_Shift_Ins_p.E425fs|LIMCH1_ENST00000512946.1_Frame_Shift_Ins_p.E425fs|LIMCH1_ENST00000396595.3_Frame_Shift_Ins_p.E271fs|LIMCH1_ENST00000514096.1_Frame_Shift_Ins_p.E266fs|LIMCH1_ENST00000512632.1_Frame_Shift_Ins_p.E425fs|LIMCH1_ENST00000513024.1_Frame_Shift_Ins_p.E254fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	425					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GAGAGAGAGAGAGCTGCATGAA	0.465																																						ENST00000313860.7																			0				central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(1273-1275)gctfs		LIM and calponin homology domains 1																																				SO:0001589	frameshift_variant	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41648518_41648519insGAGT	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	Exception_encountered	4.37:g.41648518_41648519insGAGT	ENSP00000316891:p.Glu425fs		Somatic				LIMCH1_ENST00000514096.1_Frame_Shift_Ins_p.A266fs|LIMCH1_ENST00000381753.4_Frame_Shift_Ins_p.A259fs|LIMCH1_ENST00000509277.1_Frame_Shift_Ins_p.A259fs|LIMCH1_ENST00000512632.1_Frame_Shift_Ins_p.A425fs|LIMCH1_ENST00000511496.1_Frame_Shift_Ins_p.A266fs|LIMCH1_ENST00000508501.1_Frame_Shift_Ins_p.A425fs|LIMCH1_ENST00000513024.1_Frame_Shift_Ins_p.A254fs|LIMCH1_ENST00000503057.1_Frame_Shift_Ins_p.A810fs|LIMCH1_ENST00000396595.3_Frame_Shift_Ins_p.A271fs|LIMCH1_ENST00000512946.1_Frame_Shift_Ins_p.A425fs|LIMCH1_ENST00000512820.1_Frame_Shift_Ins_p.A413fs	p.A425fs	NM_014988.2	NP_055803.2	WXS	Illumina GAIIx	Phase_I	Q9UPQ0	LIMC1_HUMAN			12	1327_1328	+			425					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Frame_Shift_Ins	INS	ENST00000313860.7	37	c.1273_1274insGAGT	CCDS33977.1																																																																																				0.465	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		39	549						39	549	---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79238582	79238583	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:79238582_79238583insC	ENST00000325942.6	+	17	2320_2321	c.1880_1881insC	c.(1879-1884)agccccfs	p.SP627fs	FRAS1_ENST00000264895.6_Frame_Shift_Ins_p.SP627fs|FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.SP627fs	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	627					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACAGCCTGCAGCCCCCCCAAGG	0.574																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(1879-1881)accfs		Fraser syndrome 1																																				SO:0001589	frameshift_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79238582_79238583insC	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1887dupC	4.37:g.79238589_79238589dupC	ENSP00000326330:p.Ser627fs		Somatic				FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.T627fs|FRAS1_ENST00000325942.6_Frame_Shift_Ins_p.T627fs	p.T627fs	NM_025074.6	NP_079350.5	WXS	Illumina GAIIx	Phase_I	Q86XX4	FRAS1_HUMAN			17	2320_2321	+			627					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Frame_Shift_Ins	INS	ENST00000325942.6	37	c.1880_1881insC	CCDS54772.1																																																																																				0.574	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			18	294						18	294	---	---	---	---
ARHGAP24	83478	broad.mit.edu	37	4	86916051	86916052	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:86916051_86916052insC	ENST00000395184.1	+	9	1710_1711	c.1244_1245insC	c.(1243-1248)agccccfs	p.SP415fs	ARHGAP24_ENST00000395183.2_Frame_Shift_Ins_p.SP320fs|ARHGAP24_ENST00000264343.4_Frame_Shift_Ins_p.SP322fs	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	415					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GTGTCTAGAAGCCCCCCTCTCA	0.48																																						ENST00000395184.1																			0				breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1243-1245)accfs		Rho GTPase activating protein 24																																				SO:0001589	frameshift_variant	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86916051_86916052insC	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	ENST00000395184.1:c.1250dupC	4.37:g.86916057_86916057dupC	ENSP00000378611:p.Ser415fs		Somatic				ARHGAP24_ENST00000264343.4_Frame_Shift_Ins_p.T322fs|ARHGAP24_ENST00000395183.2_Frame_Shift_Ins_p.T320fs	p.T415fs	NM_001025616.2	NP_001020787.2	WXS	Illumina GAIIx	Phase_I	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	9	1710_1711	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	415					Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Frame_Shift_Ins	INS	ENST00000395184.1	37	c.1244_1245insC	CCDS34025.1																																																																																				0.480	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	NM_031305		7	668						7	668	---	---	---	---
ABCG2	9429	broad.mit.edu	37	4	89052270	89052271	+	Frame_Shift_Ins	INS	-	-	T	rs376137682|rs150450599	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:89052270_89052271insT	ENST00000237612.3	-	5	1018_1019	c.473_474insA	c.(472-474)aacfs	p.N158fs	ABCG2_ENST00000515655.1_Frame_Shift_Ins_p.N158fs	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	158	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	TAATCCGTTCGTTTTTTTCATG	0.426																																						ENST00000237612.3																			0				breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(472-474)agafs		ATP-binding cassette, sub-family G (WHITE), member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)																																			SO:0001589	frameshift_variant	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89052270_89052271insT	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.474dupA	4.37:g.89052277_89052277dupT	ENSP00000237612:p.Asn158fs		Somatic				ABCG2_ENST00000515655.1_Frame_Shift_Ins_p.R158fs	p.R158fs	NM_004827.2	NP_004818.2	WXS	Illumina GAIIx	Phase_I	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	5	1018_1019	-		Hepatocellular(203;0.114)	158			ABC transporter.		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Frame_Shift_Ins	INS	ENST00000237612.3	37	c.473_474insA	CCDS3628.1																																																																																				0.426	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827		9	521						9	521	---	---	---	---
C4orf17	84103	broad.mit.edu	37	4	100443777	100443778	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:100443777_100443778insC	ENST00000326581.4	+	3	610_611	c.248_249insC	c.(247-252)taccccfs	p.YP83fs	C4orf17_ENST00000514652.1_Frame_Shift_Ins_p.YP83fs|C4orf17_ENST00000503257.1_3'UTR	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	83										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		AATTGCAGTTACCCCTCCAGCA	0.5																																						ENST00000514652.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18						c.(247-249)tccfs		chromosome 4 open reading frame 17																																				SO:0001589	frameshift_variant	84103							g.chr4:100443777_100443778insC	AL136838	CCDS3649.1	4q23	2008-02-05			ENSG00000138813	ENSG00000138813			25274	protein-coding gene	gene with protein product						11230166	Standard	NM_032149		Approved	DKFZP434G072	uc003huw.3	Q53FE4	OTTHUMG00000131027	ENST00000326581.4:c.252dupC	4.37:g.100443781_100443781dupC	ENSP00000322582:p.Tyr83fs		Somatic				C4orf17_ENST00000326581.4_Frame_Shift_Ins_p.S83fs|C4orf17_ENST00000503257.1_3'UTR	p.S83fs			WXS	Illumina GAIIx	Phase_I	Q53FE4	CD017_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)	3	602_603	+			83					Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Frame_Shift_Ins	INS	ENST00000326581.4	37	c.248_249insC	CCDS3649.1																																																																																				0.500	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253670.2	NM_032149		10	180						10	180	---	---	---	---
CFI	3426	broad.mit.edu	37	4	110662158	110662159	+	Frame_Shift_Ins	INS	-	-	C	rs7437875	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:110662158_110662159insC	ENST00000394634.2	-	13	1849_1850	c.1642_1643insG	c.(1642-1644)gaafs	p.E548fs	CFI_ENST00000512148.1_Frame_Shift_Ins_p.E541fs|CFI_ENST00000394635.3_Frame_Shift_Ins_p.E556fs	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	548	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TCCACAGTTTTCCCCCCAACTC	0.465																																						ENST00000394634.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27						c.(1642-1644)aaafs		complement factor I																																				SO:0001589	frameshift_variant	3426				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr4:110662158_110662159insC	J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"""Complement system"""	5394	protein-coding gene	gene with protein product	"""Konglutinogen-activating factor"", ""C3b-inactivator"""	217030	"""I factor (complement)"""	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.1643dupG	4.37:g.110662164_110662164dupC	ENSP00000378130:p.Glu548fs		Somatic				CFI_ENST00000512148.1_Frame_Shift_Ins_p.K541fs|CFI_ENST00000394635.3_Frame_Shift_Ins_p.K556fs	p.K548fs	NM_000204.3	NP_000195.2	WXS	Illumina GAIIx	Phase_I	P05156	CFAI_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000331)	13	1849_1850	-		Hepatocellular(203;0.217)	548			Peptidase S1.		O60442	Frame_Shift_Ins	INS	ENST00000394634.2	37	c.1642_1643insG	CCDS34049.1																																																																																				0.465	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_000204		11	526						11	526	---	---	---	---
EGF	1950	broad.mit.edu	37	4	110909773	110909774	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:110909773_110909774insC	ENST00000265171.5	+	18	3087_3088	c.2642_2643insC	c.(2641-2646)tgccccfs	p.CP881fs	EGF_ENST00000509793.1_Frame_Shift_Ins_p.CP839fs|EGF_ENST00000503392.1_Frame_Shift_Ins_p.CP881fs	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	881	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	GTCCCAGTGTGCCCCCCTGCCT	0.47																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2641-2643)tccfs		epidermal growth factor	Sulindac(DB00605)																																			SO:0001589	frameshift_variant	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110909773_110909774insC	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.2648dupC	4.37:g.110909779_110909779dupC	ENSP00000265171:p.Cys881fs		Somatic				EGF_ENST00000509793.1_Frame_Shift_Ins_p.S839fs|EGF_ENST00000503392.1_Frame_Shift_Ins_p.S881fs	p.S881fs	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	WXS	Illumina GAIIx	Phase_I	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	18	3087_3088	+		Hepatocellular(203;0.0893)	881			EGF-like 7; calcium-binding (Potential).		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Frame_Shift_Ins	INS	ENST00000265171.5	37	c.2642_2643insC	CCDS3689.1																																																																																				0.470	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			17	1676						17	1676	---	---	---	---
MFSD8	256471	broad.mit.edu	37	4	128865118	128865119	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:128865118_128865119insA	ENST00000296468.3	-	5	354_355	c.227_228insT	c.(226-228)ttgfs	p.L76fs	MFSD8_ENST00000513559.1_Frame_Shift_Ins_p.L31fs|MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000541133.1_Frame_Shift_Ins_p.L31fs	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	76					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TAACCCAGCCCAAAAAACTTGT	0.347																																						ENST00000296468.3																			0				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						c.(226-228)tggfs		major facilitator superfamily domain containing 8																																				SO:0001589	frameshift_variant	256471				cell death|transmembrane transport	integral to membrane|lysosomal membrane		g.chr4:128865118_128865119insA	AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.228dupT	4.37:g.128865124_128865124dupA	ENSP00000296468:p.Leu76fs		Somatic				MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Frame_Shift_Ins_p.W31fs|MFSD8_ENST00000541133.1_Frame_Shift_Ins_p.W31fs	p.W76fs	NM_152778.2	NP_689991.1	WXS	Illumina GAIIx	Phase_I	Q8NHS3	MFSD8_HUMAN			5	354_355	-			76					B2RDM1|B7Z205|Q8N2P3	Frame_Shift_Ins	INS	ENST00000296468.3	37	c.227_228insT	CCDS3736.1																																																																																				0.347	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257097.1	NM_152778		7	1023						7	1023	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134071648	134071649	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:134071648_134071649insC	ENST00000264360.5	+	1	1179_1180	c.353_354insC	c.(352-357)aaccccfs	p.NP118fs	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	118	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S121fs*13(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTAATGACAACCCCCCCTCTT	0.604																																						ENST00000264360.4																			1	Insertion - Frameshift(1)	p.S121fs*13(1)	large_intestine(1)	NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(352-354)accfs		protocadherin 10																																				SO:0001589	frameshift_variant	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134071648_134071649insC	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.360dupC	4.37:g.134071655_134071655dupC	ENSP00000264360:p.Asn118fs		Somatic					p.T118fs	NM_032961.1	NP_116586.1	WXS	Illumina GAIIx	Phase_I	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1179_1180	+			118			Cadherin 1.		Q4W5F6|Q96SF0	Frame_Shift_Ins	INS	ENST00000264360.5	37	c.353_354insC	CCDS34063.1																																																																																				0.604	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		10	231						10	231	---	---	---	---
ZNF827	152485	broad.mit.edu	37	4	146686192	146686193	+	Frame_Shift_Ins	INS	-	-	G	rs151005596		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:146686192_146686193insG	ENST00000508784.1	-	13	3404_3405	c.3177_3178insC	c.(3175-3180)cccgaafs	p.E1060fs	ZNF827_ENST00000379448.4_Frame_Shift_Ins_p.E1060fs|ZNF827_ENST00000513320.1_Frame_Shift_Ins_p.E710fs			Q17R98	ZN827_HUMAN	zinc finger protein 827	1060					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P1059P(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					AGCAGCTGTTCGGGGGTCTTCA	0.475																																						ENST00000508784.1																			2	Substitution - coding silent(2)	p.P1059P(2)	lung(2)	NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(3175-3180)ccaacafs		zinc finger protein 827																																				SO:0001589	frameshift_variant	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146686192_146686193insG	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.3178dupC	4.37:g.146686197_146686197dupG	ENSP00000421863:p.Glu1060fs		Somatic				ZNF827_ENST00000513320.1_Frame_Shift_Ins_p.T710fs|ZNF827_ENST00000379448.4_Frame_Shift_Ins_p.T1060fs	p.T1060fs			WXS	Illumina GAIIx	Phase_I	Q17R98	ZN827_HUMAN			13	3404_3405	-	all_hematologic(180;0.151)		1060					B7ZL52|Q7Z4S7|Q8N279	Frame_Shift_Ins	INS	ENST00000508784.1	37	c.3177_3178insC																																																																																					0.475	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		15	862						15	862	---	---	---	---
ARHGAP10	79658	broad.mit.edu	37	4	148861006	148861007	+	Frame_Shift_Ins	INS	-	-	G	rs199972892		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:148861006_148861007insG	ENST00000336498.3	+	14	1498_1499	c.1259_1260insG	c.(1258-1263)gtggggfs	p.VG420fs	ARHGAP10_ENST00000414545.2_Frame_Shift_Ins_p.VG69fs	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	1185					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TACAGAGTTGTGGGGGTGAGTT	0.356																																						ENST00000336498.3																			0				autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(1258-1260)gggfs		Rho GTPase activating protein 10																																				SO:0001589	frameshift_variant	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148861006_148861007insG	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.1264dupG	4.37:g.148861011_148861011dupG	ENSP00000336923:p.Val420fs		Somatic				ARHGAP10_ENST00000414545.2_Frame_Shift_Ins_p.G69fs	p.G420fs	NM_024605.3	NP_078881.3	WXS	Illumina GAIIx	Phase_I	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	14	1498_1499	+	all_hematologic(180;0.151)	Renal(17;0.0166)	420			Rho-GAP.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Frame_Shift_Ins	INS	ENST00000336498.3	37	c.1259_1260insG	CCDS34075.1																																																																																				0.356	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		8	621						8	621	---	---	---	---
SH3D19	152503	broad.mit.edu	37	4	152069284	152069285	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:152069284_152069285insG	ENST00000409252.2	-	10	1738_1739	c.1031_1032insC	c.(1030-1032)cctfs	p.P344fs	SH3D19_ENST00000304527.4_Frame_Shift_Ins_p.P344fs|SH3D19_ENST00000514152.1_Frame_Shift_Ins_p.P344fs|SH3D19_ENST00000409598.4_Frame_Shift_Ins_p.P344fs|SH3D19_ENST00000424281.1_Frame_Shift_Ins_p.P308fs|SH3D19_ENST00000455740.1_Frame_Shift_Ins_p.P344fs|SH3D19_ENST00000427414.2_Frame_Shift_Ins_p.P308fs			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	344	Interaction with SH3GL1.|Pro-rich.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GTGGTCTCTCAGGGGGCACCTT	0.426																																						ENST00000409598.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20						c.(1030-1032)cgafs		SH3 domain containing 19																																				SO:0001589	frameshift_variant	152503				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	g.chr4:152069284_152069285insG	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.1032dupC	4.37:g.152069289_152069289dupG	ENSP00000386848:p.Pro344fs		Somatic				SH3D19_ENST00000427414.2_Frame_Shift_Ins_p.R308fs|SH3D19_ENST00000409252.2_Frame_Shift_Ins_p.R344fs|SH3D19_ENST00000455740.1_Frame_Shift_Ins_p.R344fs|SH3D19_ENST00000514152.1_Frame_Shift_Ins_p.R344fs|SH3D19_ENST00000304527.4_Frame_Shift_Ins_p.R344fs|SH3D19_ENST00000424281.1_Frame_Shift_Ins_p.R308fs	p.R344fs			WXS	Illumina GAIIx	Phase_I	Q5HYK7	SH319_HUMAN			11	2198_2199	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	344			Interaction with SH3GL1.|Pro-rich.		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Frame_Shift_Ins	INS	ENST00000409252.2	37	c.1031_1032insC	CCDS34077.2																																																																																				0.426	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3	NM_001009555		8	2003						8	2003	---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177046335	177046336	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:177046335_177046336insA	ENST00000280190.4	+	6	847_848	c.691_692insA	c.(691-693)tggfs	p.W231fs	WDR17_ENST00000507824.2_Frame_Shift_Ins_p.W214fs|WDR17_ENST00000393643.2_Frame_Shift_Ins_p.W207fs|WDR17_ENST00000508596.1_Frame_Shift_Ins_p.W207fs			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	231										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GGCCTTGGAATGGGACCCACTA	0.361																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(619-621)ggafs		WD repeat domain 17																																				SO:0001589	frameshift_variant	116966							g.chr4:177046335_177046336insA	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	Exception_encountered	4.37:g.177046335_177046336insA	ENSP00000280190:p.Trp231fs		Somatic				WDR17_ENST00000508596.1_Frame_Shift_Ins_p.G207fs|WDR17_ENST00000280190.4_Frame_Shift_Ins_p.G231fs|WDR17_ENST00000507824.2_Frame_Shift_Ins_p.G214fs	p.G207fs	NM_170710.4	NP_733828.2	WXS	Illumina GAIIx	Phase_I	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	5	871_872	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	231					E7EQX0|Q0QD35	Frame_Shift_Ins	INS	ENST00000280190.4	37	c.619_620insA	CCDS3825.1																																																																																				0.361	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			159	257						159	257	---	---	---	---
SORBS2	8470	broad.mit.edu	37	4	186515043	186515044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:186515043_186515044insC	ENST00000284776.7	-	19	3639_3640	c.3130_3131insG	c.(3130-3132)gaafs	p.E1044fs	RP11-301L8.2_ENST00000411847.1_RNA|SORBS2_ENST00000449407.2_Frame_Shift_Ins_p.E588fs|SORBS2_ENST00000393528.3_Frame_Shift_Ins_p.E610fs|SORBS2_ENST00000418609.1_Frame_Shift_Ins_p.E948fs|SORBS2_ENST00000431808.1_Frame_Shift_Ins_p.E1044fs|SORBS2_ENST00000448662.2_Frame_Shift_Ins_p.E605fs|SORBS2_ENST00000437304.2_Frame_Shift_Ins_p.E768fs|SORBS2_ENST00000355634.5_Frame_Shift_Ins_p.E1144fs|SORBS2_ENST00000319471.9_Frame_Shift_Ins_p.E675fs	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	1044	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.E1044fs*8(2)|p.E605fs*8(2)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TACTTACGGTTCCCCCCCACCT	0.356																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			4	Insertion - Frameshift(4)	p.E1044fs*8(2)|p.E605fs*8(2)	haematopoietic_and_lymphoid_tissue(4)	endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(3130-3132)accfs		sorbin and SH3 domain containing 2																																				SO:0001589	frameshift_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186515043_186515044insC		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.3131dupG	4.37:g.186515050_186515050dupC	ENSP00000284776:p.Glu1044fs		Somatic				SORBS2_ENST00000418609.1_Frame_Shift_Ins_p.T948fs|SORBS2_ENST00000448662.2_Frame_Shift_Ins_p.T605fs|RP11-301L8.2_ENST00000411847.1_RNA|SORBS2_ENST00000449407.2_Frame_Shift_Ins_p.T588fs|SORBS2_ENST00000393528.3_Frame_Shift_Ins_p.T610fs|SORBS2_ENST00000355634.5_Frame_Shift_Ins_p.T1144fs|SORBS2_ENST00000437304.2_Frame_Shift_Ins_p.T768fs|SORBS2_ENST00000319471.9_Frame_Shift_Ins_p.T675fs|SORBS2_ENST00000284776.7_Frame_Shift_Ins_p.T1044fs	p.T1044fs			WXS	Illumina GAIIx	Phase_I	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	20	3693_3694	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	1044			SH3 3.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Frame_Shift_Ins	INS	ENST00000284776.7	37	c.3130_3131insG	CCDS3845.1																																																																																				0.356	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		9	230						9	230	---	---	---	---
TLR3	7098	broad.mit.edu	37	4	186997804	186997805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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			15	211						15	211	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187558038	187558039	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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		15	664						15	664	---	---	---	---
SEMA5A	9037	broad.mit.edu	37	5	9044549	9044550	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:9044549_9044550insG	ENST00000382496.5	-	22	3705_3706	c.3040_3041insC	c.(3040-3042)cttfs	p.L1014fs	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	1014					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCTGGTATTAAGGGGGGCAGGT	0.525																																						ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(3040-3042)taafs		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A																																				SO:0001589	frameshift_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9044549_9044550insG	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.3041dupC	5.37:g.9044555_9044555dupG	ENSP00000371936:p.Leu1014fs		Somatic				CTD-2215L10.1_ENST00000506519.1_RNA	p.*1014fs	NM_003966.2	NP_003957.2	WXS	Illumina GAIIx	Phase_I	Q13591	SEM5A_HUMAN			22	3705_3706	-			1014					D3DTC6|O60408|Q1RLL9	Frame_Shift_Ins	INS	ENST00000382496.5	37	c.3040_3041insC	CCDS3875.1																																																																																				0.525	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			8	568						8	568	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32090267	32090268	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:32090267_32090268insC	ENST00000438447.1	+	20	7101_7102	c.6713_6714insC	c.(6712-6717)caccccfs	p.HP2238fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.HP2238fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	2238					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CGGGAGGGTCACCCCCCACACA	0.639																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(6712-6714)cccfs		PDZ domain containing 2																																				SO:0001589	frameshift_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090267_32090268insC	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6719dupC	5.37:g.32090273_32090273dupC	ENSP00000402033:p.His2238fs		Somatic				PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.P2238fs	p.P2238fs			WXS	Illumina GAIIx	Phase_I	O15018	PDZD2_HUMAN			20	7101_7102	+			2238					Q9BXD4	Frame_Shift_Ins	INS	ENST00000438447.1	37	c.6713_6714insC	CCDS34137.1																																																																																				0.639	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			10	523						10	523	---	---	---	---
MTMR12	54545	broad.mit.edu	37	5	32230062	32230063	+	Frame_Shift_Ins	INS	-	-	G	rs549727876		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:32230062_32230063insG	ENST00000382142.3	-	16	2235_2236	c.2065_2066insC	c.(2065-2067)cagfs	p.Q689fs	MTMR12_ENST00000280285.5_Frame_Shift_Ins_p.Q635fs|MTMR12_ENST00000510216.1_5'Flank|MTMR12_ENST00000264934.5_Frame_Shift_Ins_p.Q579fs	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	689						cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGCCTCAGCCTGGGGGGCCTGC	0.574																																						ENST00000382142.3																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(2065-2067)ggcfs		myotubularin related protein 12																																				SO:0001589	frameshift_variant	54545					cytoplasm	phosphatase activity	g.chr5:32230062_32230063insG	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.2066dupC	5.37:g.32230068_32230068dupG	ENSP00000371577:p.Gln689fs		Somatic				MTMR12_ENST00000264934.5_Frame_Shift_Ins_p.G579fs|MTMR12_ENST00000280285.5_Frame_Shift_Ins_p.G635fs	p.G689fs	NM_001040446.1	NP_001035536.1	WXS	Illumina GAIIx	Phase_I	Q9C0I1	MTMRC_HUMAN			16	2235_2236	-			689					Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Frame_Shift_Ins	INS	ENST00000382142.3	37	c.2065_2066insC	CCDS34138.1																																																																																				0.574	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		7	571						7	571	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33881300	33881301	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:33881300_33881301insG	ENST00000504830.1	-	2	747_748	c.412_413insC	c.(412-414)ctcfs	p.L138fs	ADAMTS12_ENST00000515401.1_Frame_Shift_Ins_p.L138fs|ADAMTS12_ENST00000352040.3_Frame_Shift_Ins_p.L138fs	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	138					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L138I(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GAGATGGCAGAGGGGGGCAGAG	0.54										HNSCC(64;0.19)																												ENST00000504830.1																			2	Substitution - Missense(2)	p.L138I(2)	large_intestine(2)	NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(412-414)ctgfs		ADAM metallopeptidase with thrombospondin type 1 motif, 12																																				SO:0001589	frameshift_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33881300_33881301insG	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.413dupC	5.37:g.33881306_33881306dupG	ENSP00000422554:p.Leu138fs	HNSCC(64;0.19)	Somatic				ADAMTS12_ENST00000352040.3_Frame_Shift_Ins_p.L138fs|ADAMTS12_ENST00000515401.1_Frame_Shift_Ins_p.L138fs	p.L138fs	NM_030955.2	NP_112217.2	WXS	Illumina GAIIx	Phase_I	P58397	ATS12_HUMAN			2	747_748	-			138					A2RRN9|A5D6V6|Q6UWL3	Frame_Shift_Ins	INS	ENST00000504830.1	37	c.412_413insC	CCDS34140.1																																																																																				0.540	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		8	321						8	321	---	---	---	---
SLC1A3	6507	broad.mit.edu	37	5	36679798	36679799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:36679798_36679799insG	ENST00000265113.4	+	7	1406_1407	c.930_931insG	c.(931-933)gggfs	p.G311fs	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.G311fs	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	311					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGGTGTGATTGGGGGGCAGCT	0.52																																						ENST00000265113.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41						c.(928-933)atggggfs		solute carrier family 1 (glial high affinity glutamate transporter), member 3	L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36679798_36679799insG		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.936dupG	5.37:g.36679804_36679804dupG	ENSP00000265113:p.Gly311fs		Somatic				SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs|CTD-2353F22.1_ENST00000510740.1_RNA	p.MG310fs	NM_004172.4	NP_004163.3	WXS	Illumina GAIIx	Phase_I	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	1406_1407	+	all_lung(31;0.000245)		310					B2R5T3|Q4JCQ8	Frame_Shift_Ins	INS	ENST00000265113.4	37	c.930_931insG	CCDS3919.1																																																																																				0.520	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		9	443						9	443	---	---	---	---
EGFLAM	133584	broad.mit.edu	37	5	38407191	38407192	+	Frame_Shift_Ins	INS	-	-	G	rs540141603	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:38407191_38407192insG	ENST00000354891.3	+	8	1436_1437	c.1090_1091insG	c.(1090-1092)tggfs	p.W364fs	EGFLAM_ENST00000336740.6_Frame_Shift_Ins_p.W130fs|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000322350.5_Frame_Shift_Ins_p.W364fs	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	364	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.S367fs*12(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGACTACACCTGGGGGGGCTCG	0.545																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			1	Insertion - Frameshift(1)	p.S367fs*12(1)	large_intestine(1)	NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(1090-1092)gggfs		EGF-like, fibronectin type III and laminin G domains																																				SO:0001589	frameshift_variant	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38407191_38407192insG	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1097dupG	5.37:g.38407198_38407198dupG	ENSP00000346964:p.Trp364fs		Somatic				EGFLAM_ENST00000336740.6_Frame_Shift_Ins_p.G130fs|EGFLAM_ENST00000354891.3_Frame_Shift_Ins_p.G364fs|EGFLAM_ENST00000397202.2_Intron	p.G364fs	NM_152403.3	NP_689616.2	WXS	Illumina GAIIx	Phase_I	Q63HQ2	EGFLA_HUMAN			8	1436_1437	+	all_lung(31;0.000385)		364			EGF-like 1.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Frame_Shift_Ins	INS	ENST00000354891.3	37	c.1090_1091insG	CCDS56363.1																																																																																				0.545	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		10	233						10	233	---	---	---	---
C5orf34	375444	broad.mit.edu	37	5	43506338	43506339	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:43506338_43506339insA	ENST00000306862.2	-	4	818_819	c.443_444insT	c.(442-444)ttgfs	p.L148fs	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	148										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TAACTTTACACAAAAAATGTAC	0.366																																						ENST00000306862.2																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21						c.(442-444)ttgfs		chromosome 5 open reading frame 34																																				SO:0001589	frameshift_variant	375444							g.chr5:43506338_43506339insA	AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.444dupT	5.37:g.43506344_43506344dupA	ENSP00000303490:p.Leu148fs		Somatic				RP11-159F24.3_ENST00000505645.1_RNA	p.L148fs	NM_198566.2	NP_940968.1	WXS	Illumina GAIIx	Phase_I	Q96MH7	CE034_HUMAN			4	818_819	-	Lung NSC(6;2.07e-05)		148						Frame_Shift_Ins	INS	ENST00000306862.2	37	c.443_444insT	CCDS3946.1																																																																																				0.366	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253843.1	NM_198566		12	488						12	488	---	---	---	---
MOCS2	4338	broad.mit.edu	37	5	52402939	52402940	+	Frame_Shift_Ins	INS	-	-	G	rs375101987|rs398122799		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:52402939_52402940insG	ENST00000396954.3	-	3	742_743	c.65_66insC	c.(64-66)ccafs	p.P22fs	MOCS2_ENST00000527216.1_Frame_Shift_Ins_p.I80fs|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.I85fs|CTD-2366F13.1_ENST00000499459.2_RNA|MOCS2_ENST00000361377.4_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.I85fs|CTD-2366F13.1_ENST00000502171.2_RNA|MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.I85fs|CTD-2366F13.1_ENST00000512301.1_RNA|MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.I85fs|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.I85fs	NM_004531.3	NP_004522.1			molybdenum cofactor synthesis 2											endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCTCCACTAATGGGGGGGATAA	0.426																																						ENST00000361377.4																			0				endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5	GRCh37	CI992095	MOCS2	I		c.(250-255)ccttagfs		molybdenum cofactor synthesis 2																																				SO:0001589	frameshift_variant	4338				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding	g.chr5:52402939_52402940insG	AF117815	CCDS3958.1, CCDS47205.1	5q11	2008-02-05			ENSG00000164172	ENSG00000164172			7193	protein-coding gene	gene with protein product		603708				10053004, 9889283	Standard	NM_004531		Approved	MOCO1	uc003joz.3	O96007	OTTHUMG00000096981	ENST00000396954.3:c.66dupC	5.37:g.52402946_52402946dupG	ENSP00000380157:p.Pro22fs		Somatic				MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000396954.3_Frame_Shift_Ins_p.L22fs	p.*85fs			WXS	Illumina GAIIx	Phase_I	O96033	MOC2A_HUMAN			3	293_294	-		Lung NSC(810;3.08e-05)|Breast(144;0.0848)	85						Frame_Shift_Ins	INS	ENST00000396954.3	37	c.252_253insC	CCDS3958.1																																																																																				0.426	MOCS2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214053.3	NM_183418		17	391						17	391	---	---	---	---
ERBB2IP	55914	broad.mit.edu	37	5	65370919	65370920	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:65370919_65370920insC	ENST00000284037.5	+	23	4213_4214	c.3824_3825insC	c.(3823-3828)caccccfs	p.HP1275fs	ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000380936.1_Frame_Shift_Ins_p.HP1234fs|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000506030.1_Frame_Shift_Ins_p.HP1282fs|ERBB2IP_ENST00000380939.2_Intron|ERBB2IP_ENST00000380943.2_Frame_Shift_Ins_p.HP1234fs|ERBB2IP_ENST00000416865.2_Frame_Shift_Ins_p.HP473fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Ins_p.HP1230fs|ERBB2IP_ENST00000380938.2_Frame_Shift_Ins_p.HP1234fs	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1275					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CAAATACATCACCCCCCTCAGG	0.455																																						ENST00000284037.5																			0				breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36						c.(3823-3825)cccfs		erbb2 interacting protein																																				SO:0001589	frameshift_variant	55914				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton	g.chr5:65370919_65370920insC		CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.3830dupC	5.37:g.65370925_65370925dupC	ENSP00000284037:p.His1275fs		Somatic				ERBB2IP_ENST00000416865.2_Frame_Shift_Ins_p.P473fs|ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000380938.2_Frame_Shift_Ins_p.P1234fs|ERBB2IP_ENST00000506030.1_Frame_Shift_Ins_p.P1282fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Ins_p.P1230fs|ERBB2IP_ENST00000380939.2_Intron|ERBB2IP_ENST00000380943.2_Frame_Shift_Ins_p.P1234fs|ERBB2IP_ENST00000380936.1_Frame_Shift_Ins_p.P1234fs|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000508515.1_Intron	p.P1275fs	NM_001253697.1	NP_001240626.1	WXS	Illumina GAIIx	Phase_I	Q96RT1	LAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)	23	4213_4214	+		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)	1275					A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Frame_Shift_Ins	INS	ENST00000284037.5	37	c.3824_3825insC	CCDS58953.1																																																																																				0.455	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215070.1	NM_018695		8	143						8	143	---	---	---	---
MARVELD2	153562	broad.mit.edu	37	5	68728454	68728455	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:68728454_68728455insC	ENST00000325631.5	+	4	1357_1358	c.1283_1284insC	c.(1282-1287)atccccfs	p.IP428fs	MARVELD2_ENST00000413223.2_Frame_Shift_Ins_p.IP312fs	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	428					cell-cell junction organization (GO:0045216)|establishment of endothelial barrier (GO:0061028)|sensory perception of sound (GO:0007605)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		AGTGGACACATCCCCCCAGGCC	0.475																																						ENST00000325631.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15						c.(1282-1284)accfs		MARVEL domain containing 2																																				SO:0001589	frameshift_variant	153562				sensory perception of sound	integral to membrane|tight junction		g.chr5:68728454_68728455insC	AK055094	CCDS34175.1, CCDS58956.1	5q13.1	2007-05-01	2004-07-12	2004-07-14	ENSG00000152939	ENSG00000152939			26401	protein-coding gene	gene with protein product	"""tricellulin"""	610572	"""MARVEL (membrane-associating) domain containing 2"", ""deafness, autosomal recessive 49"""	MRVLDC2, DFNB49		17186462	Standard	NM_001038603		Approved	FLJ30532, TRIC	uc003jwq.3	Q8N4S9	OTTHUMG00000162512	ENST00000325631.5:c.1289dupC	5.37:g.68728460_68728460dupC	ENSP00000323264:p.Ile428fs		Somatic				MARVELD2_ENST00000413223.2_Frame_Shift_Ins_p.T312fs	p.T428fs	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	WXS	Illumina GAIIx	Phase_I	Q8N4S9	MALD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)	4	1357_1358	+		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)	428					A1BQX0|A1BQX1|A8KA97|Q96NM9	Frame_Shift_Ins	INS	ENST00000325631.5	37	c.1283_1284insC	CCDS34175.1																																																																																				0.475	MARVELD2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369583.1	NM_144724		10	285						10	285	---	---	---	---
OCLN	100506658	broad.mit.edu	37	5	68809915	68809916	+	Frame_Shift_Ins	INS	-	-	C	rs373344533		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:68809915_68809916insC	ENST00000355237.2	+	4	1306_1307	c.870_871insC	c.(871-873)cccfs	p.P291fs	OCLN_ENST00000396442.2_Frame_Shift_Ins_p.P291fs|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000380766.2_Intron|OCLN_ENST00000538151.1_Frame_Shift_Ins_p.P40fs	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	291					apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		ATGATGAGCAGCCCCCCAATGT	0.347																																						ENST00000355237.2																			0				endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6						c.(868-873)caccccfs		occludin																																				SO:0001589	frameshift_variant	100506658				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity	g.chr5:68809915_68809916insC	U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"""tight junction protein occludin TM4 minus"", ""phosphatase 1, regulatory subunit 115"""	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.876dupC	5.37:g.68809921_68809921dupC	ENSP00000347379:p.Pro291fs		Somatic				OCLN_ENST00000538151.1_Frame_Shift_Ins_p.HP39fs|OCLN_ENST00000396442.2_Frame_Shift_Ins_p.HP290fs|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000380766.2_Intron	p.HP290fs	NM_002538.3	NP_002529.1	WXS	Illumina GAIIx	Phase_I	Q16625	OCLN_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	4	1306_1307	+		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	290					B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Frame_Shift_Ins	INS	ENST00000355237.2	37	c.870_871insC	CCDS4006.1																																																																																				0.347	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216794.1	NM_002538		7	409						7	409	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71495076	71495077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:71495076_71495077insC	ENST00000296755.7	+	5	6192_6193	c.5894_5895insC	c.(5893-5898)agccccfs	p.SP1965fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1965					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAAG	0.485																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(5893-5895)accfs		microtubule-associated protein 1B																																				SO:0001589	frameshift_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495076_71495077insC	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5901dupC	5.37:g.71495083_71495083dupC	ENSP00000296755:p.Ser1965fs		Somatic					p.T1965fs	NM_005909.3	NP_005900.2	WXS	Illumina GAIIx	Phase_I	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6192_6193	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1965					A2BDK5	Frame_Shift_Ins	INS	ENST00000296755.7	37	c.5894_5895insC	CCDS4012.1																																																																																				0.485	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		12	262						12	262	---	---	---	---
ENC1	8507	broad.mit.edu	37	5	73931125	73931126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:73931125_73931126insC	ENST00000302351.4	-	2	2315_2316	c.1185_1186insG	c.(1183-1188)gggcacfs	p.H396fs	ENC1_ENST00000537006.1_Frame_Shift_Ins_p.H396fs|ENC1_ENST00000510316.1_Frame_Shift_Ins_p.H323fs	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	396					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GCGGCCGTGTGCCCCCCAACCA	0.599																																						ENST00000302351.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20						c.(1183-1188)ggacacfs		ectodermal-neural cortex 1 (with BTB domain)																																				SO:0001589	frameshift_variant	8507				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr5:73931125_73931126insC	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"""Kelch-like"", ""BTB/POZ domain containing"""	3345	protein-coding gene	gene with protein product	"""kelch-like family member 37"""	605173	"""ectodermal-neural cortex 1 (with BTB-like domain)"""	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.1186dupG	5.37:g.73931131_73931131dupC	ENSP00000306356:p.His396fs		Somatic				ENC1_ENST00000537006.1_Frame_Shift_Ins_p.H396fs|ENC1_ENST00000510316.1_Frame_Shift_Ins_p.H323fs	p.H396fs	NM_003633.3	NP_003624.1	WXS	Illumina GAIIx	Phase_I	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	2	2315_2316	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	396					B4DHJ1|E9PFU0|O75464|Q9UPG9	Frame_Shift_Ins	INS	ENST00000302351.4	37	c.1185_1186insG	CCDS4021.1																																																																																				0.599	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		11	462						11	462	---	---	---	---
MSH3	4437	broad.mit.edu	37	5	80074560	80074561	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:80074560_80074561insA	ENST00000265081.6	+	17	2420_2421	c.2340_2341insA	c.(2341-2343)cacfs	p.H781fs		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	781					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TGAGCCGCTTTCACTCTCCTTT	0.401								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(2338-2343)ttactcfs	Mismatch excision repair (MMR)	mutS homolog 3																																				SO:0001589	frameshift_variant	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:80074560_80074561insA	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	Exception_encountered	5.37:g.80074560_80074561insA	ENSP00000265081:p.His781fs		Somatic					p.L781fs	NM_002439.4	NP_002430.3	WXS	Illumina GAIIx	Phase_I	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	17	2420_2421	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	781					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Frame_Shift_Ins	INS	ENST00000265081.6	37	c.2340_2341insA	CCDS34195.1																																																																																				0.401	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		11	129						11	129	---	---	---	---
MAN2A1	4124	broad.mit.edu	37	5	109103387	109103388	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:109103387_109103388insT	ENST00000261483.4	+	6	2039_2040	c.987_988insT	c.(988-990)tttfs	p.F330fs		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	330					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AAACATTGGAGTTTTTTTGGAG	0.396																																						ENST00000261483.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(985-990)gattttfs		mannosidase, alpha, class 2A, member 1																																				SO:0001589	frameshift_variant	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109103387_109103388insT		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.994dupT	5.37:g.109103394_109103394dupT	ENSP00000261483:p.Phe330fs		Somatic					p.DF329fs	NM_002372.2	NP_002363.2	WXS	Illumina GAIIx	Phase_I	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	6	2039_2040	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	329					Q16767	Frame_Shift_Ins	INS	ENST00000261483.4	37	c.987_988insT	CCDS34209.1																																																																																				0.396	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			11	855						11	855	---	---	---	---
LMNB1	4001	broad.mit.edu	37	5	126140574	126140574	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:126140574delA	ENST00000261366.5	+	2	827	c.466delA	c.(466-468)aaafs	p.K157fs	LMNB1_ENST00000460265.1_3'UTR|LMNB1_ENST00000395354.1_Frame_Shift_Del_p.K157fs	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	157	Coil 1B.|Rod.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	lamin filament (GO:0005638)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)	structural molecule activity (GO:0005198)	p.S158fs*30(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		ACTTGGTGACAAAAAAAGTTT	0.443																																						ENST00000261366.5																			1	Insertion - Frameshift(1)	p.S158fs*30(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(466-468)aafs		lamin B1							81.0	84.0	83.0					5																	126140574		2203	4300	6503	SO:0001589	frameshift_variant	4001				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity	g.chr5:126140574delA	L37737	CCDS4140.1	5q23.2	2013-01-16			ENSG00000113368	ENSG00000113368		"""Intermediate filaments type V, lamins"""	6637	protein-coding gene	gene with protein product		150340				7557986, 8838815	Standard	NM_005573		Approved		uc003kud.2	P20700	OTTHUMG00000128969	ENST00000261366.5:c.466delA	5.37:g.126140574delA	ENSP00000261366:p.Lys157fs		Somatic				LMNB1_ENST00000395354.1_Frame_Shift_Del_p.K157fs|LMNB1_ENST00000460265.1_3'UTR	p.K157fs	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	WXS	Illumina GAIIx	Phase_I	P20700	LMNB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)	2	827	+		all_cancers(142;0.103)|Prostate(80;0.081)	157			Coil 1B.|Rod.		B2R6J6|Q3SYN7|Q96EI6	Frame_Shift_Del	DEL	ENST00000261366.5	37	c.466delA	CCDS4140.1																																																																																				0.443	LMNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250956.2	NM_005573		7	443						7	443	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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		11	166						11	166	---	---	---	---
RAPGEF6	51735	broad.mit.edu	37	5	130782331	130782332	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:130782331_130782332insT	ENST00000509018.1	-	22	3470_3471	c.3265_3266insA	c.(3265-3267)aggfs	p.R1089fs	RAPGEF6_ENST00000308008.6_Frame_Shift_Ins_p.R1089fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Ins_p.R1097fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Ins_p.R1097fs|RAPGEF6_ENST00000512052.1_Frame_Shift_Ins_p.R812fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Ins_p.R1102fs|CTC-432M15.3_ENST00000514667.1_Frame_Shift_Ins_p.R1139fs	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1089					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GCGGCGTGCCCTTTTTTTGTGA	0.45																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(3265-3267)ggcfs		Rap guanine nucleotide exchange factor (GEF) 6																																				SO:0001589	frameshift_variant	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130782331_130782332insT	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.3266dupA	5.37:g.130782338_130782338dupT	ENSP00000421684:p.Arg1089fs		Somatic				FNIP1_ENST00000514667.1_Frame_Shift_Ins_p.G1139fs|RAPGEF6_ENST00000308008.6_Frame_Shift_Ins_p.G1089fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Ins_p.G1102fs|RAPGEF6_ENST00000512052.1_Frame_Shift_Ins_p.G812fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Ins_p.G1097fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Ins_p.G1097fs	p.G1089fs	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	WXS	Illumina GAIIx	Phase_I	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	22	3470_3471	-			1089					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Frame_Shift_Ins	INS	ENST00000509018.1	37	c.3265_3266insA	CCDS34225.1																																																																																				0.450	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		8	339						8	339	---	---	---	---
PDLIM4	8572	broad.mit.edu	37	5	131606778	131606779	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:131606778_131606779insC	ENST00000253754.3	+	4	562_563	c.498_499insC	c.(499-501)cccfs	p.P167fs	PDLIM4_ENST00000379018.3_Frame_Shift_Ins_p.P167fs|PDLIM4_ENST00000484620.1_3'UTR|P4HA2_ENST00000471826.1_Intron	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	167							zinc ion binding (GO:0008270)	p.S169fs*50(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGTGTCTCCACCCCCCAGGTA	0.589																																						ENST00000253754.3																			1	Deletion - Frameshift(1)	p.S169fs*50(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10						c.(496-501)ccccccfs		PDZ and LIM domain 4																																				SO:0001589	frameshift_variant	8572						protein binding|zinc ion binding	g.chr5:131606778_131606779insC	AF153882	CCDS4152.1, CCDS47261.1	5q31.1	2008-02-05			ENSG00000131435	ENSG00000131435			16501	protein-coding gene	gene with protein product		603422				9573374	Standard	NM_001131027		Approved	RIL	uc003kwn.3	P50479	OTTHUMG00000059645	ENST00000253754.3:c.504dupC	5.37:g.131606784_131606784dupC	ENSP00000253754:p.Pro167fs		Somatic				PDLIM4_ENST00000484620.1_3'UTR|PDLIM4_ENST00000379018.3_Frame_Shift_Ins_p.PP166fs|P4HA2_ENST00000471826.1_Intron	p.PP166fs	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	WXS	Illumina GAIIx	Phase_I	P50479	PDLI4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	562_563	+			166					B2R8U1|Q53Y39|Q96AT8|Q9BTW8|Q9Y292	Frame_Shift_Ins	INS	ENST00000253754.3	37	c.498_499insC	CCDS4152.1																																																																																				0.589	PDLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132644.2	NM_003687		7	300						7	300	---	---	---	---
SLC22A5	6584	broad.mit.edu	37	5	131722730	131722731	+	Frame_Shift_Ins	INS	-	-	C	rs386134209|rs386134208		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:131722730_131722731insC	ENST00000245407.3	+	5	1059_1060	c.838_839insC	c.(838-840)tccfs	p.S280fs	SLC22A5_ENST00000435065.2_Frame_Shift_Ins_p.S304fs	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	280			S -> F (in CDSP; reduces carnitine transport). {ECO:0000269|PubMed:21922592}.		carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	CATCCCTGAGTCCCCCCGATGG	0.545											OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000245407.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8	GRCh37	CM045438	SLC22A5	M		c.(838-840)cccfs		solute carrier family 22 (organic cation/carnitine transporter), member 5	L-Carnitine(DB00583)																																			SO:0001589	frameshift_variant	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131722730_131722731insC	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"""Solute carriers"""	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.844dupC	5.37:g.131722736_131722736dupC	ENSP00000245407:p.Ser280fs		Somatic	OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1589	SLC22A5_ENST00000435065.2_Frame_Shift_Ins_p.P304fs	p.P280fs	NM_003060.3	NP_003051.1	WXS	Illumina GAIIx	Phase_I	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	1059_1060	+		all_cancers(142;0.0751)|Breast(839;0.198)	280					A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Frame_Shift_Ins	INS	ENST00000245407.3	37	c.838_839insC	CCDS4154.1																																																																																				0.545	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		12	1222						12	1222	---	---	---	---
HSPA4	3308	broad.mit.edu	37	5	132432907	132432907	+	Frame_Shift_Del	DEL	G	G	-	rs143003242		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:132432907delG	ENST00000304858.2	+	15	2147	c.1858delG	c.(1858-1860)gcafs	p.A620fs		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	620					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCTAAGAACGCAGTGGAGGA	0.373																																					Colon(114;1299 1588 6063 12302 48757)	ENST00000304858.2																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32						c.(1858-1860)cafs		heat shock 70kDa protein 4							225.0	209.0	214.0					5																	132432907		2203	4300	6503	SO:0001589	frameshift_variant	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132432907delG	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.1858delG	5.37:g.132432907delG	ENSP00000302961:p.Ala620fs		Somatic					p.A620fs	NM_002154.3	NP_002145.3	WXS	Illumina GAIIx	Phase_I	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		15	2147	+			620					O95756|Q2TAL4|Q9BUK9	Frame_Shift_Del	DEL	ENST00000304858.2	37	c.1858delG	CCDS4166.1																																																																																				0.373	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		21	509						21	509	---	---	---	---
FSTL4	23105	broad.mit.edu	37	5	132534816	132534817	+	Frame_Shift_Ins	INS	-	-	C	rs140495211		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:132534816_132534817insC	ENST00000265342.7	-	16	2748_2749	c.2499_2500insG	c.(2497-2502)gggaccfs	p.T834fs	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	834						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.T834fs*>9(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACCACTGTGGTCCCCCCCTTTA	0.584																																						ENST00000265342.7																			1	Deletion - Frameshift(1)	p.T834fs*>9(1)	large_intestine(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23						c.(2497-2502)ggccacfs		follistatin-like 4																																				SO:0001589	frameshift_variant	23105					extracellular region	calcium ion binding	g.chr5:132534816_132534817insC	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.2500dupG	5.37:g.132534823_132534823dupC	ENSP00000265342:p.Thr834fs		Somatic				CTB-49A3.2_ENST00000509051.1_RNA	p.H834fs	NM_015082.1	NP_055897.1	WXS	Illumina GAIIx	Phase_I	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		16	2748_2749	-		all_cancers(142;0.244)	834					Q8TBU0|Q9UPU1	Frame_Shift_Ins	INS	ENST00000265342.7	37	c.2499_2500insG	CCDS34238.1																																																																																				0.584	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		9	193						9	193	---	---	---	---
SEC24A	10802	broad.mit.edu	37	5	134053794	134053795	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:134053794_134053795insC	ENST00000398844.2	+	20	3189_3190	c.2901_2902insC	c.(2902-2904)cccfs	p.P968fs	RNU6-757P_ENST00000410334.1_RNA	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	968					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCATACCTCAGCCCCCCATTCT	0.426																																						ENST00000398844.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(2899-2904)caccccfs		SEC24 family member A																																				SO:0001589	frameshift_variant	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:134053794_134053795insC	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.2907dupC	5.37:g.134053800_134053800dupC	ENSP00000381823:p.Pro968fs		Somatic					p.HP967fs	NM_021982.2	NP_068817.1	WXS	Illumina GAIIx	Phase_I	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		20	3189_3190	+			967					A8MVW3|Q8WUV2|Q96GP7	Frame_Shift_Ins	INS	ENST00000398844.2	37	c.2901_2902insC	CCDS43363.1																																																																																				0.426	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			19	572						19	572	---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140588663	140588664	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:140588663_140588664insG	ENST00000239450.2	+	1	373_374	c.184_185insG	c.(184-186)cggfs	p.R62fs	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	62	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGTCTTCGCGGGGGGCTCGG	0.51																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(184-186)gggfs						0,4264		0,0,2132						0.4	0.0			90	1,8253		0,1,4126	no	frameshift	PCDHB12	NM_018932.3		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12517				SO:0001589	frameshift_variant	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140588663_140588664insG	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.190dupG	5.37:g.140588669_140588669dupG	ENSP00000239450:p.Arg62fs		Somatic				PCDHB12_ENST00000541609.1_Intron	p.G62fs	NM_018932.3	NP_061755.1	WXS	Illumina GAIIx	Phase_I	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	373_374	+			62			Cadherin 1.		B4DDU1	Frame_Shift_Ins	INS	ENST00000239450.2	37	c.184_185insG	CCDS4254.1																																																																																				0.510	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		14	407						14	407	---	---	---	---
FCHSD1	89848	broad.mit.edu	37	5	141024642	141024643	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:141024642_141024643insG	ENST00000435817.2	-	14	1434_1435	c.1384_1385insC	c.(1384-1386)caafs	p.Q462fs	FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Frame_Shift_Ins_p.Q388fs|FCHSD1_ENST00000522126.1_Frame_Shift_Ins_p.Q386fs	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	462									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCAGGGCTTGGGGGGCAGGC	0.589																																						ENST00000435817.2																		FCHSD1/BRAF(2)	0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1384-1386)agcfs		FCH and double SH3 domains 1																																				SO:0001589	frameshift_variant	89848							g.chr5:141024642_141024643insG	AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.1385dupC	5.37:g.141024648_141024648dupG	ENSP00000399259:p.Gln462fs		Somatic				FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Frame_Shift_Ins_p.S388fs|FCHSD1_ENST00000522126.1_Frame_Shift_Ins_p.S386fs	p.S462fs	NM_033449.2	NP_258260.1	WXS	Illumina GAIIx	Phase_I	Q86WN1	FCSD1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		14	1434_1435	-			462					Q6UX75|Q86Y77|Q9NXX8	Frame_Shift_Ins	INS	ENST00000435817.2	37	c.1384_1385insC	CCDS47295.1																																																																																				0.589	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2	NM_033449		7	268						7	268	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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		15	665						15	665	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141049509	141049510	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:141049509_141049510insG	ENST00000239440.4	-	15	2293_2294	c.2228_2229insC	c.(2227-2229)ccafs	p.P743fs	ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.P645fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.P405fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	743					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						GGTCAGTGGGTGGGGGGCTCAC	0.564																																						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.(2227-2229)cccfs		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.chr5:141049509_141049510insG	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.2229dupC	5.37:g.141049515_141049515dupG	ENSP00000239440:p.Pro743fs		Somatic				ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.P645fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.P405fs	p.P743fs	NM_022481.5	NP_071926.4	WXS	Illumina GAIIx	Phase_I	Q8WWN8	ARAP3_HUMAN			15	2293_2294	-			743					B4DIT1|D3DQE3	Frame_Shift_Ins	INS	ENST00000239440.4	37	c.2228_2229insC	CCDS4266.1																																																																																				0.564	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		9	792						9	792	---	---	---	---
PCDH1	5097	broad.mit.edu	37	5	141242814	141242815	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:141242814_141242815insG	ENST00000394536.3	-	3	3220_3221	c.3081_3082insC	c.(3079-3084)cccaaafs	p.K1028fs	PCDH1_ENST00000456271.1_Frame_Shift_Ins_p.K1016fs|PCDH1_ENST00000536585.1_Frame_Shift_Ins_p.K1006fs|PCDH1_ENST00000287008.3_Frame_Shift_Ins_p.K1028fs|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000503492.1_Intron	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	1028					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTGGGGTATTTGGGGGGGTTGG	0.634																																					Ovarian(132;1609 1739 4190 14731 45037)	ENST00000287008.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51						c.(3079-3084)ccaatafs		protocadherin 1																																				SO:0001589	frameshift_variant	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141242814_141242815insG	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.3082dupC	5.37:g.141242821_141242821dupG	ENSP00000378043:p.Lys1028fs		Somatic				PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000536585.1_Frame_Shift_Ins_p.I1006fs|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000394536.3_Frame_Shift_Ins_p.I1028fs|PCDH1_ENST00000456271.1_Frame_Shift_Ins_p.I1016fs	p.I1028fs	NM_032420.2	NP_115796.2	WXS	Illumina GAIIx	Phase_I	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	3	3228_3229	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	1028					Q8IUP2	Frame_Shift_Ins	INS	ENST00000394536.3	37	c.3081_3082insC	CCDS43375.1																																																																																				0.634	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		18	164						18	164	---	---	---	---
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G	rs199646351		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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		15	296						15	296	---	---	---	---
SPRY4	81848	broad.mit.edu	37	5	141694153	141694154	+	Frame_Shift_Ins	INS	-	-	G	rs369403370|rs144353509		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:141694153_141694154insG	ENST00000434127.2	-	2	763_764	c.520_521insC	c.(520-522)cggfs	p.R174fs	SPRY4_ENST00000503582.1_5'Flank|SPRY4_ENST00000344120.4_Frame_Shift_Ins_p.R197fs	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	174	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCAACGTCCGGGGGGATGCA	0.609									Testicular Cancer, Familial Clustering of																													ENST00000344120.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18						c.(589-591)gacfs		sprouty homolog 4 (Drosophila)																																				SO:0001589	frameshift_variant	81848	Testicular Cancer, Familial Clustering of	Familial Cancer Database		multicellular organismal development	cytoplasm|ruffle membrane	protein binding	g.chr5:141694153_141694154insG	AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.521dupC	5.37:g.141694159_141694159dupG	ENSP00000399468:p.Arg174fs		Somatic				SPRY4_ENST00000434127.2_Frame_Shift_Ins_p.D174fs	p.D197fs	NM_030964.3	NP_112226.2	WXS	Illumina GAIIx	Phase_I	Q9C004	SPY4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	775_776	-		all_hematologic(541;0.118)	174			Cys-rich.|SPR.		A4FVB2|A4FVB3|Q6QIX2|Q9C003	Frame_Shift_Ins	INS	ENST00000434127.2	37	c.589_590insC	CCDS47296.1																																																																																				0.609	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1			10	411						10	411	---	---	---	---
PPP2R2B	5521	broad.mit.edu	37	5	145969651	145969652	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:145969651_145969652insC	ENST00000394413.3	-	9	1760_1761	c.1190_1191insG	c.(1189-1191)ggcfs	p.G397fs	PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.G386fs|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.G397fs|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.G455fs|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.G386fs|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.G400fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.G403fs|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.G397fs|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.G463fs|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.G397fs			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_ENST00000453001.1_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.E463fs|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.E455fs|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.E386fs|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.E400fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.E403fs|PPP2R2B_ENST00000530902.1_5'UTR	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		14	670						14	670	---	---	---	---
SLC6A7	6534	broad.mit.edu	37	5	149581960	149581961	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:149581960_149581961insG	ENST00000230671.2	+	7	1280_1281	c.909_910insG	c.(910-912)gggfs	p.G304fs	SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.G304fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	304					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	GTGTGGGCTTCGGGGGGCTCCT	0.569																																						ENST00000230671.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16						c.(907-912)ttggggfs		solute carrier family 6 (neurotransmitter transporter), member 7	L-Proline(DB00172)																																			SO:0001589	frameshift_variant	6534					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	g.chr5:149581960_149581961insG	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.915dupG	5.37:g.149581966_149581966dupG	ENSP00000230671:p.Gly304fs		Somatic				SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.LG303fs	p.LG303fs	NM_014228.3	NP_055043.2	WXS	Illumina GAIIx	Phase_I	Q99884	SC6A7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1280_1281	+		all_hematologic(541;0.224)	303					Q0VG81|Q52LU6	Frame_Shift_Ins	INS	ENST00000230671.2	37	c.909_910insG	CCDS4305.1																																																																																				0.569	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	NM_014228		10	498						10	498	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150924483	150924484	+	Frame_Shift_Ins	INS	-	-	G	rs371598238		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:150924483_150924484insG	ENST00000261800.5	-	9	6216_6217	c.6204_6205insC	c.(6202-6207)cccaaafs	p.K2069fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2069	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCTTAAATTTGGGGGGATTGT	0.505																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(6202-6207)ccaattfs		FAT atypical cadherin 2																																				SO:0001589	frameshift_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150924483_150924484insG	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6205dupC	5.37:g.150924489_150924489dupG	ENSP00000261800:p.Lys2069fs		Somatic					p.I2069fs	NM_001447.2	NP_001438.1	WXS	Illumina GAIIx	Phase_I	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	6216_6217	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2069			Cadherin 17.		O75091|Q9NSR7	Frame_Shift_Ins	INS	ENST00000261800.5	37	c.6204_6205insC	CCDS4317.1																																																																																				0.505	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		14	629						14	629	---	---	---	---
GALNT10	55568	broad.mit.edu	37	5	153789314	153789315	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:153789314_153789315insG	ENST00000297107.6	+	9	1515_1516	c.1378_1379insG	c.(1378-1380)tggfs	p.W460fs	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377657.3_Frame_Shift_Ins_p.W133fs|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				SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377657.3_Frame_Shift_Ins_p.G133fs|GALNT10_ENST00000377661.2_Frame_Shift_Ins_p.G398fs|SAP30L-AS1_ENST00000519727.1_RNA	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		14	729						14	729	---	---	---	---
LARP1	23367	broad.mit.edu	37	5	154181821	154181822	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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		8	197						8	197	---	---	---	---
KIAA1191	57179	broad.mit.edu	37	5	175774701	175774702	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:175774701_175774702insG	ENST00000298569.4	-	9	1352_1353	c.819_820insC	c.(817-822)cccaagfs	p.K274fs	KIAA1191_ENST00000393728.2_5'UTR|KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.K255fs|KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.K274fs|RP11-843P14.2_ENST00000508187.1_RNA	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	274						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		ATGTCCATCTTGGGGGGCTTCA	0.579																																						ENST00000298569.4																			0				endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(817-822)ccagatfs		KIAA1191																																				SO:0001589	frameshift_variant	57179						protein binding	g.chr5:175774701_175774702insG	BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.820dupC	5.37:g.175774707_175774707dupG	ENSP00000298569:p.Lys274fs		Somatic				KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.D255fs|KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.D274fs|KIAA1191_ENST00000393728.2_5'UTR	p.D274fs	NM_020444.3	NP_065177.2	WXS	Illumina GAIIx	Phase_I	Q96A73	K1191_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)	9	1352_1353	-	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	274					B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Frame_Shift_Ins	INS	ENST00000298569.4	37	c.819_820insC	CCDS4399.1																																																																																				0.579	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253146.2	NM_020444		10	307						10	307	---	---	---	---
CNOT6	57472	broad.mit.edu	37	5	179994113	179994114	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr5:179994113_179994114insT	ENST00000393356.1	+	10	1167_1168	c.743_744insT	c.(742-747)agttttfs	p.SF248fs	CNOT6_ENST00000261951.4_Frame_Shift_Ins_p.SF248fs			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	248	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		CAGTATTACAGTTTTTTTCTGG	0.351																																						ENST00000393356.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23						c.(742-744)attfs		CCR4-NOT transcription complex, subunit 6																																				SO:0001589	frameshift_variant	57472				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding	g.chr5:179994113_179994114insT	AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.750dupT	5.37:g.179994120_179994120dupT	ENSP00000377024:p.Ser248fs		Somatic				CNOT6_ENST00000261951.4_Frame_Shift_Ins_p.I248fs	p.I248fs			WXS	Illumina GAIIx	Phase_I	Q9ULM6	CNOT6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)	10	1167_1168	+	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	248					A7MD46|D3DWR0	Frame_Shift_Ins	INS	ENST00000393356.1	37	c.743_744insT	CCDS4455.1																																																																																				0.351	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253532.1	NM_015455		7	729						7	729	---	---	---	---
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Intron	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:10557409_10557410insC	ENST00000379597.3	+	1	1481				GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000316170.3_Frame_Shift_Ins_p.P252fs|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_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		11	145						11	145	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13185110	13185111	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:13185110_13185111insC	ENST00000379345.2	+	5	550_551	c.309_310insC	c.(310-312)cccfs	p.P104fs	PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000457702.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	43					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TCCTGCTACTGCCCCCCAAAAA	0.584																																						ENST00000379345.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(307-312)ctccccfs		phosphatase and actin regulator 1																																				SO:0001589	frameshift_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13185110_13185111insC	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379345.2:c.315dupC	6.37:g.13185116_13185116dupC	ENSP00000368650:p.Pro104fs		Somatic				PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000379350.1_Intron	p.LP103fs			WXS	Illumina GAIIx	Phase_I	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		5	550_551	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	237					A8K1V2|Q3MJ93|Q5JSJ2	Frame_Shift_Ins	INS	ENST00000379345.2	37	c.309_310insC																																																																																					0.584	PHACTR1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166420		18	824						18	824	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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_ENST00000457702.2_Frame_Shift_Ins_p.VG106fs|PHACTR1_ENST00000379345.2_Intron			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_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000379345.2_Intron	p.G251fs			WXS	Illumina GAIIx	Phase_I	Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		7	881_882	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	251					A8K1V2|Q3MJ93|Q5JSJ2	Frame_Shift_Ins	INS	ENST00000379350.1	37	c.752_753insG																																																																																					0.599	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		10	195						10	195	---	---	---	---
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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		16	727						16	727	---	---	---	---
ABCF1	23	broad.mit.edu	37	6	30550275	30550276	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:30550275_30550276insA	ENST00000326195.8	+	9	895_896	c.783_784insA	c.(784-786)aaafs	p.K262fs	MIR877_ENST00000401282.1_RNA|ABCF1_ENST00000376545.3_Intron|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	262					inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						AGAAAAAGCTGAAAAAACAGGT	0.45																																						ENST00000326195.8																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						c.(781-786)ctaaaafs		ATP-binding cassette, sub-family F (GCN20), member 1																																				SO:0001589	frameshift_variant	23				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30550275_30550276insA	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.789dupA	6.37:g.30550281_30550281dupA	ENSP00000313603:p.Lys262fs		Somatic				ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Intron	p.LK261fs	NM_001025091.1	NP_001020262.1	WXS	Illumina GAIIx	Phase_I	Q8NE71	ABCF1_HUMAN			9	895_896	+			261					A2BF75|O14897|Q69YP6	Frame_Shift_Ins	INS	ENST00000326195.8	37	c.783_784insA	CCDS34380.1																																																																																				0.450	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			7	340						7	340	---	---	---	---
LY6G6C	80740	broad.mit.edu	37	6	31692528	31692529	+	5'Flank	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:31692528_31692529insC	ENST00000375819.2	-	0	0				DDAH2_ENST00000480913.1_5'Flank|C6orf25_ENST00000375809.3_Frame_Shift_Ins_p.S183fs|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.P153fs|C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.S183fs	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C							anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						TTCAGCTCTGTCCCCCCCACAT	0.579																																						ENST00000375809.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						c.(547-549)cccfs		chromosome 6 open reading frame 25			,,,,,	3,4261		0,3,2129					,,,,,	1.1	1.0			67	4,8248		0,4,4122	no	frameshift,intron,frameshift,frameshift,intron,frameshift	C6orf25	NM_138277.2,NM_138275.2,NM_138274.2,NM_138273.2,NM_138272.2,NM_025260.3	,,,,,	0,7,6251	A1A1,A1R,RR		0.0485,0.0704,0.0559	,,,,,	,,,,,		7,12509				SO:0001631	upstream_gene_variant	80739					endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity	g.chr6:31692528_31692529insC		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251		6.37:g.31692535_31692535dupC	Exception_encountered		Somatic				C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs	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			14	187						14	187	---	---	---	---
NELFE	7936	broad.mit.edu	37	6	31926205	31926206	+	Frame_Shift_Ins	INS	-	-	G	rs146039608		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:31926205_31926206insG	ENST00000375429.3	-	2	244_245	c.18_19insC	c.(16-21)cccggafs	p.G7fs	NELFE_ENST00000375425.5_Frame_Shift_Ins_p.G14fs|SKIV2L_ENST00000375394.2_5'Flank|SKIV2L_ENST00000544581.1_5'Flank|MIR1236_ENST00000408340.1_RNA|NELFE_ENST00000444811.2_Frame_Shift_Ins_p.G7fs	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	7					gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										TCGCTCAGTCCGGGGGGTATCA	0.545																																						ENST00000375429.3																			0											c.(16-21)ccgactfs		negative elongation factor complex member E																																				SO:0001589	frameshift_variant	7936							g.chr6:31926205_31926206insG	M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"""RNA binding motif (RRM) containing"""	13974	protein-coding gene	gene with protein product		154040	"""RD RNA-binding protein"", ""RD RNA binding protein"""	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.19dupC	6.37:g.31926211_31926211dupG	ENSP00000364578:p.Gly7fs		Somatic				NELFE_ENST00000444811.2_Frame_Shift_Ins_p.T7fs|NELFE_ENST00000375425.5_Frame_Shift_Ins_p.T14fs	p.T7fs	NM_002904.5	NP_002895.3	WXS	Illumina GAIIx	Phase_I					2	244_245	-								A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Frame_Shift_Ins	INS	ENST00000375429.3	37	c.18_19insC	CCDS4730.1																																																																																				0.545	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076047.4			9	759						9	759	---	---	---	---
ZBTB9	221504	broad.mit.edu	37	6	33423711	33423712	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:33423711_33423712insC	ENST00000395064.2	+	2	1102_1103	c.834_835insC	c.(835-837)cccfs	p.P279fs		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	279	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						CTCCTGCACTGCCCCCCAAAAT	0.564																																						ENST00000395064.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						c.(832-837)ctccccfs		zinc finger and BTB domain containing 9																																				SO:0001589	frameshift_variant	221504				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33423711_33423712insC	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.840dupC	6.37:g.33423717_33423717dupC	ENSP00000378503:p.Pro279fs		Somatic					p.LP278fs	NM_152735.3	NP_689948.1	WXS	Illumina GAIIx	Phase_I	Q96C00	ZBTB9_HUMAN			2	1102_1103	+			278			Pro-rich.		A2AB19	Frame_Shift_Ins	INS	ENST00000395064.2	37	c.834_835insC	CCDS4780.1																																																																																				0.564	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735		9	272						9	272	---	---	---	---
UHRF1BP1	54887	broad.mit.edu	37	6	34791081	34791082	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:34791081_34791082insC	ENST00000192788.5	+	4	465_466	c.294_295insC	c.(295-297)cccfs	p.P99fs	Y_RNA_ENST00000383990.1_RNA|UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.P99fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	99							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGATCCTCGGCCCCCCAATGG	0.446																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(292-297)cgccccfs		UHRF1 binding protein 1																																				SO:0001589	frameshift_variant	54887							g.chr6:34791081_34791082insC	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.300dupC	6.37:g.34791087_34791087dupC	ENSP00000192788:p.Pro99fs		Somatic				UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.RP98fs	p.RP98fs	NM_017754.3	NP_060224.3	WXS	Illumina GAIIx	Phase_I	Q6BDS2	URFB1_HUMAN			4	465_466	+			98					Q9NXE0	Frame_Shift_Ins	INS	ENST00000192788.5	37	c.294_295insC	CCDS43455.1																																																																																				0.446	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		17	651						17	651	---	---	---	---
MAPK14	1432	broad.mit.edu	37	6	36068005	36068006	+	Intron	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:36068005_36068006insC	ENST00000229794.4	+	10	1150				MAPK14_ENST00000229795.3_Frame_Shift_Ins_p.P242fs|MAPK14_ENST00000468133.1_Intron|MAPK14_ENST00000310795.4_Intron	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14						3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						TGACAGGAACACCCCCCGCTTA	0.426																																					Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)	ENST00000229795.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						c.(721-726)acccccfs		mitogen-activated protein kinase 14																																				SO:0001627	intron_variant	1432				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding	g.chr6:36068005_36068006insC	L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"""Mitogen-activated protein kinase cascade / Kinases"""	6876	protein-coding gene	gene with protein product	"""p38 MAP kinase"""	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	ENST00000229794.4:c.763-2342->C	6.37:g.36068011_36068011dupC			Somatic				MAPK14_ENST00000310795.4_Intron|MAPK14_ENST00000468133.1_Intron|MAPK14_ENST00000229794.4_Intron	p.TP241fs	NM_001315.2	NP_001306.1	WXS	Illumina GAIIx	Phase_I	Q16539	MK14_HUMAN			9	1170_1171	+			241			Protein kinase.		A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Frame_Shift_Ins	INS	ENST00000229794.4	37	c.723_724insC	CCDS4816.1																																																																																				0.426	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357450.1	NM_001315		11	765						11	765	---	---	---	---
TTBK1	84630	broad.mit.edu	37	6	43227329	43227330	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:43227329_43227330insC	ENST00000259750.4	+	12	1392_1393	c.1309_1310insC	c.(1309-1311)gccfs	p.A437fs	TTBK1_ENST00000304139.5_Frame_Shift_Ins_p.A386fs	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	437					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCCAGTGCGTGCCCCCCCAGAC	0.673																																						ENST00000259750.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1309-1311)cccfs		tau tubulin kinase 1																																				SO:0001589	frameshift_variant	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43227329_43227330insC	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.1316dupC	6.37:g.43227336_43227336dupC	ENSP00000259750:p.Ala437fs		Somatic				TTBK1_ENST00000304139.5_Frame_Shift_Ins_p.P386fs	p.P437fs	NM_032538.1	NP_115927.1	WXS	Illumina GAIIx	Phase_I	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		12	1392_1393	+			437					A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Frame_Shift_Ins	INS	ENST00000259750.4	37	c.1309_1310insC	CCDS34455.1																																																																																				0.673	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			2	4						2	4	---	---	---	---
TNFRSF21	27242	broad.mit.edu	37	6	47252064	47252065	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:47252064_47252065insC	ENST00000296861.2	-	3	1245_1246	c.852_853insG	c.(850-855)gggaagfs	p.K285fs		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	285					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)			ACGTCTTCCTTCCCCCTTGCTG	0.54																																						ENST00000296861.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21						c.(850-855)ggaggafs		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.chr6:47252064_47252065insC	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.853dupG	6.37:g.47252069_47252069dupC	ENSP00000296861:p.Lys285fs		Somatic					p.G285fs	NM_014452.3	NP_055267.1	WXS	Illumina GAIIx	Phase_I	O75509	TNR21_HUMAN	Lung(136;0.189)		3	1245_1246	-			285					B2RDI9|Q0D2P5|Q96D86	Frame_Shift_Ins	INS	ENST00000296861.2	37	c.852_853insG	CCDS4921.1																																																																																				0.540	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		9	2829						9	2829	---	---	---	---
HCRTR2	3062	broad.mit.edu	37	6	55039410	55039411	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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			29	640						29	640	---	---	---	---
KHDRBS2	202559	broad.mit.edu	37	6	62604601	62604602	+	Frame_Shift_Ins	INS	-	-	C	rs150391619		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:62604601_62604602insC	ENST00000281156.4	-	6	1026_1027	c.748_749insG	c.(748-750)gcafs	p.A250fs		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	250	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CACTGTTGGTGCCCCCCGGGCT	0.54																																						ENST00000281156.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(748-750)accfs		KH domain containing, RNA binding, signal transduction associated 2																																				SO:0001589	frameshift_variant	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62604601_62604602insC	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.749dupG	6.37:g.62604607_62604607dupC	ENSP00000281156:p.Ala250fs		Somatic					p.T250fs	NM_152688.2	NP_689901.2	WXS	Illumina GAIIx	Phase_I	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	6	1026_1027	-			250			Pro-rich.		A8K7M8|Q8N4I4|Q8TCZ4	Frame_Shift_Ins	INS	ENST00000281156.4	37	c.748_749insG	CCDS4963.1																																																																																				0.540	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		9	103						9	103	---	---	---	---
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)ggafs	p.G623fs	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(1867-1869)gcafs		KIAA0408			,	4,4260		0,4,2128					,	1.5	0.5			231	7,8247		0,7,4120	no	frameshift,utr-3	KIAA0408,C6orf174	NM_014702.4,NM_001012279.2	,	0,11,6248	A1A1,A1R,RR		0.0848,0.0938,0.0879	,	,		11,12507				SO:0001589	frameshift_variant	9729						protein binding	g.chr6:127767595_127767596insC	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1869dupG	6.37:g.127767602_127767602dupC	ENSP00000435150:p.Gly623fs		Somatic				SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	p.A623fs	NM_014702.4	NP_055517.3	WXS	Illumina GAIIx	Phase_I	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	5	2204_2205	-			623					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Frame_Shift_Ins	INS	ENST00000483725.3	37	c.1868_1869insG	CCDS34531.1																																																																																				0.401	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		12	228						12	228	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146351093	146351094	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:146351093_146351094insC	ENST00000282753.1	+	1	675_676	c.440_441insC	c.(439-444)ctccccfs	p.LP147fs	GRM1_ENST00000355289.4_Frame_Shift_Ins_p.LP147fs|GRM1_ENST00000392299.2_Frame_Shift_Ins_p.LP147fs|GRM1_ENST00000507907.1_Frame_Shift_Ins_p.LP147fs|GRM1_ENST00000492807.2_Frame_Shift_Ins_p.LP147fs|GRM1_ENST00000361719.2_Frame_Shift_Ins_p.LP147fs			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	147					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GGCCAGTCCCTCCCCCCAGGCA	0.564																																						ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(439-441)cccfs		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)																																			SO:0001589	frameshift_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146351093_146351094insC	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.446dupC	6.37:g.146351099_146351099dupC	ENSP00000282753:p.Leu147fs		Somatic				GRM1_ENST00000507907.1_Frame_Shift_Ins_p.P147fs|GRM1_ENST00000492807.2_Frame_Shift_Ins_p.P147fs|GRM1_ENST00000361719.2_Frame_Shift_Ins_p.P147fs|GRM1_ENST00000355289.4_Frame_Shift_Ins_p.P147fs|GRM1_ENST00000282753.1_Frame_Shift_Ins_p.P147fs	p.P147fs			WXS	Illumina GAIIx	Phase_I	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	2	910_911	+		Ovarian(120;0.0387)	147					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Frame_Shift_Ins	INS	ENST00000282753.1	37	c.440_441insC	CCDS5209.1																																																																																				0.564	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		7	406						7	406	---	---	---	---
EZR	7430	broad.mit.edu	37	6	159188460	159188461	+	Frame_Shift_Ins	INS	-	-	G	rs199951315|rs200777711		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:159188460_159188461insG	ENST00000367075.3	-	13	1596_1597	c.1428_1429insC	c.(1426-1431)cccgtgfs	p.V477fs	EZR_ENST00000337147.7_Frame_Shift_Ins_p.V477fs|EZR_ENST00000392177.4_Frame_Shift_Ins_p.V445fs|MIR3918_ENST00000581555.1_RNA	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	477	Interaction with SCYL3.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		GGCTCGTACACGGGGGGTGGTG	0.619			T	ROS1	NSCLC																																	ENST00000367075.3				Dom	yes		6	6q25.3	7430	T	ezrin			E	ROS1		NSCLC	EZR/ROS1(4)	0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15						c.(1426-1431)cctgtafs		ezrin																																				SO:0001589	frameshift_variant	7430				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding	g.chr6:159188460_159188461insG	AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"""A-kinase anchor proteins"""	12691	protein-coding gene	gene with protein product	"""cytovillin 2"""	123900	"""villin 2 (ezrin)"""	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.1429dupC	6.37:g.159188466_159188466dupG	ENSP00000356042:p.Val477fs		Somatic				EZR_ENST00000392177.4_Frame_Shift_Ins_p.V445fs|EZR_ENST00000337147.7_Frame_Shift_Ins_p.V477fs	p.V477fs	NM_001111077.1	NP_001104547.1	WXS	Illumina GAIIx	Phase_I	P15311	EZRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)	13	1596_1597	-		Breast(66;0.000776)|Ovarian(120;0.0303)	477			Interaction with SCYL3.		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Frame_Shift_Ins	INS	ENST00000367075.3	37	c.1428_1429insC	CCDS5258.1																																																																																				0.619	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	NM_003379		7	348						7	348	---	---	---	---
EIF3B	8662	broad.mit.edu	37	7	2405969	2405970	+	Frame_Shift_Ins	INS	-	-	C	rs142377401		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:2405969_2405970insC	ENST00000360876.4	+	7	1231_1232	c.1175_1176insC	c.(1174-1179)agccccfs	p.SP392fs	EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.SP392fs	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GTGACCTTTAGCCCCCTGATGG	0.545																																						ENST00000360876.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(1174-1176)accfs		eukaryotic translation initiation factor 3, subunit B																																				SO:0001589	frameshift_variant	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2405969_2405970insC	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1180dupC	7.37:g.2405974_2405974dupC	ENSP00000354125:p.Ser392fs		Somatic				EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.T392fs	p.T392fs	NM_001037283.1	NP_001032360.1	WXS	Illumina GAIIx	Phase_I	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	7	1231_1232	+		Ovarian(82;0.0253)	392			Sufficient for interaction with EIF3E.			Frame_Shift_Ins	INS	ENST00000360876.4	37	c.1175_1176insC	CCDS5332.1																																																																																				0.545	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			8	1446						8	1446	---	---	---	---
SCIN	85477	broad.mit.edu	37	7	12662466	12662470	+	Frame_Shift_Del	DEL	ATGAT	ATGAT	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:12662466_12662470delATGAT	ENST00000297029.5	+	5	808_812	c.707_711delATGAT	c.(706-711)gatgatfs	p.DD236fs	SCIN_ENST00000519209.1_5'UTR|SCIN_ENST00000445618.2_5'UTR|SCIN_ENST00000473722.1_3'UTR	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	236	Actin-severing. {ECO:0000255}.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GGAGGTGATGATGATGACATTATAG	0.4																																						ENST00000297029.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17						c.(706-711)gfs		scinderin																																				SO:0001589	frameshift_variant	85477				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	g.chr7:12662466_12662470delATGAT	AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.707_711delATGAT	7.37:g.12662466_12662470delATGAT	ENSP00000297029:p.Asp236fs		Somatic				SCIN_ENST00000473722.1_3'UTR|SCIN_ENST00000519209.1_5'UTR|SCIN_ENST00000445618.2_5'UTR	p.DD236fs	NM_001112706.2	NP_001106177.1	WXS	Illumina GAIIx	Phase_I	Q9Y6U3	ADSV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	5	808_812	+			236			Actin-severing (Potential).		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Frame_Shift_Del	DEL	ENST00000297029.5	37	c.707_711delATGAT	CCDS47545.1																																																																																				0.400	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128		67	360						67	360	---	---	---	---
HOXA3	3200	broad.mit.edu	37	7	27148083	27148084	+	Frame_Shift_Ins	INS	-	-	C	rs576449568		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:27148083_27148084insC	ENST00000396352.4	-	3	981_982	c.782_783insG	c.(781-783)ggcfs	p.G261fs	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Frame_Shift_Ins_p.G261fs|HOXA3_ENST00000521401.1_5'Flank	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	261					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TTGGAGACTGGCCCCCCGATGA	0.594																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	ENST00000396352.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						c.(781-783)gcafs		homeobox A3																																				SO:0001589	frameshift_variant	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27148083_27148084insC		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.783dupG	7.37:g.27148089_27148089dupC	ENSP00000379640:p.Gly261fs		Somatic				HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Frame_Shift_Ins_p.A261fs	p.A261fs	NM_030661.4	NP_109377.1	WXS	Illumina GAIIx	Phase_I	O43365	HXA3_HUMAN			3	981_982	-			261					A4D181	Frame_Shift_Ins	INS	ENST00000396352.4	37	c.782_783insG	CCDS5404.1																																																																																				0.594	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			9	276						9	276	---	---	---	---
PPP1R17	10842	broad.mit.edu	37	7	31735178	31735179	+	Frame_Shift_Ins	INS	-	-	A	rs546054902		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:31735178_31735179insA	ENST00000342032.3	+	3	806_807	c.178_179insA	c.(178-180)caafs	p.Q60fs	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	60					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										TGAGTCAGACCAAAAAAAACCA	0.436																																						ENST00000342032.3																			0											c.(178-180)aaafs		protein phosphatase 1, regulatory subunit 17																																				SO:0001589	frameshift_variant	10842				behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction		g.chr7:31735178_31735179insA	AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16973	protein-coding gene	gene with protein product	"""G-substrate"""	604088	"""chromosome 7 open reading frame 16"""	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.186dupA	7.37:g.31735186_31735186dupA	ENSP00000340125:p.Gln60fs		Somatic				PPP1R17_ENST00000409146.3_Intron	p.K60fs	NM_006658.4	NP_006649.2	WXS	Illumina GAIIx	Phase_I	O96001	GSUB_HUMAN			3	806_807	+			60					B4DE58|Q9UDQ0	Frame_Shift_Ins	INS	ENST00000342032.3	37	c.178_179insA	CCDS5436.1																																																																																				0.436	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658		13	255						13	255	---	---	---	---
EGFR	1956	broad.mit.edu	37	7	55221747	55221748	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:55221747_55221748insC	ENST00000275493.2	+	7	968_969	c.791_792insC	c.(790-795)tgccccfs	p.CP264fs	EGFR_ENST00000420316.2_Frame_Shift_Ins_p.CP264fs|EGFR_ENST00000342916.3_Frame_Shift_Ins_p.CP264fs|EGFR_ENST00000344576.2_Frame_Shift_Ins_p.CP264fs|EGFR_ENST00000454757.2_Frame_Shift_Ins_p.CP211fs|EGFR_ENST00000442591.1_Frame_Shift_Ins_p.CP264fs|EGFR_ENST00000455089.1_Frame_Shift_Ins_p.CP219fs	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	264			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AAGGACACCTGCCCCCCACTCA	0.579		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(790-792)tccfs		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)																																			SO:0001589	frameshift_variant	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221747_55221748insC		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.797dupC	7.37:g.55221753_55221753dupC	ENSP00000275493:p.Cys264fs	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	Somatic				EGFR_ENST00000420316.2_Frame_Shift_Ins_p.S264fs|EGFR_ENST00000455089.1_Frame_Shift_Ins_p.S219fs|EGFR_ENST00000442591.1_Frame_Shift_Ins_p.S264fs|EGFR_ENST00000342916.3_Frame_Shift_Ins_p.S264fs|EGFR_ENST00000344576.2_Frame_Shift_Ins_p.S264fs|EGFR_ENST00000454757.2_Frame_Shift_Ins_p.S211fs	p.S264fs	NM_005228.3	NP_005219.2	WXS	Illumina GAIIx	Phase_I	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	968_969	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		264					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Frame_Shift_Ins	INS	ENST00000275493.2	37	c.791_792insC	CCDS5514.1																																																																																				0.579	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		7	305						7	305	---	---	---	---
CLIP2	7461	broad.mit.edu	37	7	73731912	73731913	+	Frame_Shift_Ins	INS	-	-	G	rs200539524		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:73731912_73731913insG	ENST00000395060.1	+	1	36_37	c.36_37insG	c.(37-39)gggfs	p.G13fs	CLIP2_ENST00000361545.5_Frame_Shift_Ins_p.G13fs|CLIP2_ENST00000223398.6_Frame_Shift_Ins_p.G13fs			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	13						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CCCCCGGCCGTGGGGGGAAGCA	0.658																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(34-39)cgggggfs		CAP-GLY domain containing linker protein 2																																				SO:0001589	frameshift_variant	7461					microtubule associated complex		g.chr7:73731912_73731913insG	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.42dupG	7.37:g.73731918_73731918dupG	ENSP00000378500:p.Gly13fs		Somatic				CLIP2_ENST00000395060.1_Frame_Shift_Ins_p.RG12fs|CLIP2_ENST00000361545.5_Frame_Shift_Ins_p.RG12fs	p.RG12fs	NM_003388.4	NP_003379.3	WXS	Illumina GAIIx	Phase_I	Q9UDT6	CLIP2_HUMAN			2	363_364	+			12					O14527|O43611	Frame_Shift_Ins	INS	ENST00000395060.1	37	c.36_37insG	CCDS5569.1																																																																																				0.658	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		9	855						9	855	---	---	---	---
TMEM60	85025	broad.mit.edu	37	7	77423460	77423460	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:77423460delT	ENST00000257663.3	-	2	607	c.231delA	c.(229-231)aaafs	p.K77fs		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	77						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)	4						GGTACCAGGCTTTTTTTTTAA	0.408																																						ENST00000257663.3																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(229-231)aafs		transmembrane protein 60							142.0	141.0	141.0					7																	77423460		2203	4300	6503	SO:0001589	frameshift_variant	85025					integral to membrane		g.chr7:77423460delT	AF260336	CCDS5593.1	7q11.23	2005-07-25	2005-07-25	2005-07-25	ENSG00000135211	ENSG00000135211			21754	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 35"""	C7orf35			Standard	NM_032936		Approved	DC32	uc003ugn.3	Q9H2L4	OTTHUMG00000130689	ENST00000257663.3:c.231delA	7.37:g.77423460delT	ENSP00000257663:p.Lys77fs		Somatic					p.K77fs	NM_032936.3	NP_116325.1	WXS	Illumina GAIIx	Phase_I	Q9H2L4	TMM60_HUMAN			2	607	-			77					A4D1C3|Q86UM0	Frame_Shift_Del	DEL	ENST00000257663.3	37	c.231delA	CCDS5593.1																																																																																				0.408	TMEM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253185.2	NM_032936		7	369						7	369	---	---	---	---
ABCB4	5244	broad.mit.edu	37	7	87081037	87081038	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:87081037_87081038insA	ENST00000265723.4	-	7	720_721	c.609_610insT	c.(607-612)tttgcafs	p.A204fs	ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.A204fs|ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.A204fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.A204fs|ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.A204fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	204	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	ATGAATCCTGCAAAAAACGTGG	0.446																																						ENST00000265723.4																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(607-612)ttcaggfs		ATP-binding cassette, sub-family B (MDR/TAP), member 4																																				SO:0001589	frameshift_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87081037_87081038insA	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.610dupT	7.37:g.87081043_87081043dupA	ENSP00000265723:p.Ala204fs		Somatic				ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.R204fs	p.R204fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	WXS	Illumina GAIIx	Phase_I	P21439	MDR3_HUMAN			7	720_721	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		204			ABC transmembrane type-1 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Frame_Shift_Ins	INS	ENST00000265723.4	37	c.609_610insT	CCDS5606.1																																																																																				0.446	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		20	2182						20	2182	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91732038	91732039	+	Frame_Shift_Ins	INS	-	-	G	rs143306820	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:91732038_91732039insG	ENST00000359028.2	+	46	11465_11466	c.11240_11241insG	c.(11239-11244)atggggfs	p.MG3747fs	AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.MG3693fs|AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.MG3743fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3747					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)			CTTGCCCGGATGGGGGGGCAGC	0.535			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.(11239-11241)aggfs		A kinase (PRKA) anchor protein 9																																				SO:0001589	frameshift_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91732038_91732039insG	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.11247dupG	7.37:g.91732045_91732045dupG	ENSP00000351922:p.Met3747fs		Somatic				AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.R3743fs|AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.R3693fs	p.R3747fs			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)		46	11465_11466	+	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)		3747					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Ins	INS	ENST00000359028.2	37	c.11240_11241insG																																																																																					0.535	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		18	383						18	383	---	---	---	---
LAMTOR4	389541	broad.mit.edu	37	7	99751180	99751181	+	Intron	INS	-	-	G	rs201730556|rs373505176	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:99751180_99751181insG	ENST00000341942.5	+	3	268				C7orf43_ENST00000498638.1_5'Flank|LAMTOR4_ENST00000468582.1_Intron|LAMTOR4_ENST00000441173.1_Frame_Shift_Ins_p.AG81fs	NM_001008395.2	NP_001008396.1	Q0VGL1	LTOR4_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 4						cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|Ragulator complex (GO:0071986)											GTACTGGGAGCGGGGGGCTACT	0.639																																						ENST00000441173.1																			0											c.(241-243)gggfs		late endosomal/lysosomal adaptor, MAPK and MTOR activator 4																																				SO:0001627	intron_variant	389541							g.chr7:99751180_99751181insG		CCDS34702.1	7q22	2012-09-24	2012-09-24	2012-09-24	ENSG00000188186	ENSG00000188186			33772	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 59"""	C7orf59		22980980	Standard	NM_001008395		Approved		uc003utq.2	Q0VGL1	OTTHUMG00000154854	ENST00000341942.5:c.202+40->G	7.37:g.99751186_99751186dupG			Somatic				LAMTOR4_ENST00000468582.1_Intron|LAMTOR4_ENST00000341942.5_Intron	p.G81fs			WXS	Illumina GAIIx	Phase_I					3	277_278	+									Frame_Shift_Ins	INS	ENST00000341942.5	37	c.242_243insG	CCDS34702.1																																																																																				0.639	LAMTOR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337373.2	NM_001008395		8	288						8	288	---	---	---	---
PCOLCE	5118	broad.mit.edu	37	7	100205413	100205414	+	Frame_Shift_Ins	INS	-	-	C	rs538448756		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:100205413_100205414insC	ENST00000223061.5	+	8	1446_1447	c.1166_1167insC	c.(1165-1170)tgccccfs	p.CP389fs		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	389	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.M392fs*>59(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGCAAGCAGTGCCCCCCCATGA	0.51																																						ENST00000223061.5																			2	Insertion - Frameshift(2)	p.M392fs*>59(2)	ovary(1)|large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23						c.(1165-1167)tccfs		procollagen C-endopeptidase enhancer																																				SO:0001589	frameshift_variant	5118				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	g.chr7:100205413_100205414insC	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.1173dupC	7.37:g.100205420_100205420dupC	ENSP00000223061:p.Cys389fs		Somatic					p.S389fs	NM_002593.3	NP_002584.2	WXS	Illumina GAIIx	Phase_I	Q15113	PCOC1_HUMAN			8	1446_1447	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		389			NTR.		B2R9E1|O14550	Frame_Shift_Ins	INS	ENST00000223061.5	37	c.1166_1167insC	CCDS5700.1																																																																																				0.510	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593		8	139						8	139	---	---	---	---
SRRT	51593	broad.mit.edu	37	7	100479331	100479332	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:100479331_100479332insG	ENST00000347433.4	+	4	461_462	c.303_304insG	c.(304-306)gggfs	p.G102fs	SRRT_ENST00000457580.2_Frame_Shift_Ins_p.G102fs|SRRT_ENST00000388793.4_Frame_Shift_Ins_p.G102fs|SRRT_ENST00000432932.1_Frame_Shift_Ins_p.G102fs			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	102					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.G104fs*45(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGCCCTATGCTGGGGGGGGTGG	0.609																																						ENST00000388793.4																			1	Deletion - Frameshift(1)	p.G104fs*45(1)	ovary(1)	breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(301-306)gcggggfs		serrate RNA effector molecule homolog (Arabidopsis)																																				SO:0001589	frameshift_variant	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100479331_100479332insG		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.311dupG	7.37:g.100479339_100479339dupG	ENSP00000314491:p.Gly102fs		Somatic				SRRT_ENST00000347433.4_Frame_Shift_Ins_p.AG101fs|SRRT_ENST00000457580.2_Frame_Shift_Ins_p.AG101fs|SRRT_ENST00000432932.1_Frame_Shift_Ins_p.AG101fs	p.AG101fs	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	WXS	Illumina GAIIx	Phase_I	Q9BXP5	SRRT_HUMAN			4	523_524	+			101					A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Frame_Shift_Ins	INS	ENST00000347433.4	37	c.303_304insG	CCDS34709.1																																																																																				0.609	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		18	165						18	165	---	---	---	---
MUC3A	4584	broad.mit.edu	37	7	100549838	100549839	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:100549838_100549839insC	ENST00000379458.4	+	2	419_420	c.419_420insC	c.(418-423)caccccfs	p.HP140fs	MUC3A_ENST00000319509.7_5'Flank|MUC3A_ENST00000483366.1_3'UTR			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	140	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ACCATCTCCCACCCCACCTCCA	0.54																																						ENST00000379458.4																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(418-420)cccfs		mucin 3A, cell surface associated																																				SO:0001589	frameshift_variant	4584							g.chr7:100549838_100549839insC	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000379458.4:c.423dupC	7.37:g.100549842_100549842dupC	ENSP00000368771:p.His140fs		Somatic				MUC3A_ENST00000483366.1_3'UTR	p.P140fs			WXS	Illumina GAIIx	Phase_I					2	419_420	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Frame_Shift_Ins	INS	ENST00000379458.4	37	c.419_420insC																																																																																					0.540	MUC3A-201	NOVEL	basic|appris_principal	protein_coding	protein_coding		XM_001725354		7	655						7	655	---	---	---	---
AP1S1	1174	broad.mit.edu	37	7	100802404	100802405	+	Frame_Shift_Ins	INS	-	-	G	rs571529719		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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		33	326						33	326	---	---	---	---
CCDC136	64753	broad.mit.edu	37	7	128457829	128457830	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:128457829_128457830insC	ENST00000297788.4	+	17	3748_3749	c.3381_3382insC	c.(3382-3384)cccfs	p.P1128fs	CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.P408fs|CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.P489fs|CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.P420fs	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1128						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTACCCCCAATCCCCCCATCTT	0.52																																						ENST00000297788.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(3379-3384)aaccccfs		coiled-coil domain containing 136																																				SO:0001589	frameshift_variant	64753					integral to membrane	protein binding	g.chr7:128457829_128457830insC		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.3387dupC	7.37:g.128457835_128457835dupC	ENSP00000297788:p.Pro1128fs		Somatic				CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.NP419fs|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.NP488fs|CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.NP407fs	p.NP1127fs	NM_022742.4	NP_073579.4	WXS	Illumina GAIIx	Phase_I	Q96JN2	CC136_HUMAN			17	3748_3749	+			1127					A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Frame_Shift_Ins	INS	ENST00000297788.4	37	c.3381_3382insC	CCDS47704.1																																																																																				0.520	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		13	1574						13	1574	---	---	---	---
KDM7A	80853	broad.mit.edu	37	7	139820279	139820280	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:139820279_139820280insC	ENST00000397560.2	-	8	1198_1199	c.1101_1102insG	c.(1099-1104)gggaacfs	p.N368fs	JHDM1D_ENST00000006967.5_Frame_Shift_Ins_p.N368fs	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		368	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TGCAGGAAGTTCCCCCCAAAAG	0.356																																						ENST00000397560.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22						c.(1099-1104)ggacttfs																																						SO:0001589	frameshift_variant	80853				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139820279_139820280insC																												ENST00000397560.2:c.1102dupG	7.37:g.139820285_139820285dupC	ENSP00000380692:p.Asn368fs		Somatic				JHDM1D_ENST00000006967.5_Frame_Shift_Ins_p.L368fs	p.L368fs	NM_030647.1	NP_085150.1	WXS	Illumina GAIIx	Phase_I	Q6ZMT4	KDM7_HUMAN			8	1198_1199	-	Melanoma(164;0.0142)		368			JmjC.		A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Frame_Shift_Ins	INS	ENST00000397560.2	37	c.1101_1102insG	CCDS43658.1																																																																																				0.356	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			17	833						17	833	---	---	---	---
TRBV4-2	28616	broad.mit.edu	37	7	142045511	142045512	+	RNA	INS	-	-	C	rs574092449|rs372744309	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:142045511_142045512insC	ENST00000390392.3	+	0	160									T cell receptor beta variable 4-2																		TTTGTCCCTTTCCCCCCGCAGT	0.485																																						ENST00000390392.3																			0																																																			28616							g.chr7:142045511_142045512insC	U07975		7q34	2012-02-07			ENSG00000211745	ENSG00000211745		"""T cell receptors / TRB locus"""	12216	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV42, TCRBV4S2, TCRBV7S3A2T			OTTHUMG00000158525		7.37:g.142045517_142045517dupC			Somatic								WXS	Illumina GAIIx	Phase_I					0	160	+									RNA	INS	ENST00000390392.3	37																																																																																						0.485	TRBV4-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351231.1	NG_001333		11	507						11	507	---	---	---	---
TRBV6-4	28603	broad.mit.edu	37	7	142250763	142250764	+	RNA	INS	-	-	G	rs186204101		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:142250763_142250764insG	ENST00000390360.3	-	0	303_304									T cell receptor beta variable 6-4																		CGCCAACGTGAGGGGGAAATCA	0.495																																						ENST00000390360.3																			0																																																			28603							g.chr7:142250763_142250764insG	X61653		7q34	2012-02-07			ENSG00000211713	ENSG00000211713		"""T cell receptors / TRB locus"""	12229	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV64, TCRBV13S5, TCRBV6S4			OTTHUMG00000158533		7.37:g.142250768_142250768dupG			Somatic								WXS	Illumina GAIIx	Phase_I					0	303_304	-									RNA	INS	ENST00000390360.3	37																																																																																						0.495	TRBV6-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351239.2	NG_001333		8	453						8	453	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142478881	142478882	+	RNA	INS	-	-	AG			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:142478881_142478882insAG	ENST00000603901.1	+	0	40					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										GAGCTGCTGGTGAGTTTCATGC	0.554																																						ENST00000603901.1																			0																																																			154754							g.chr7:142478881_142478882insAG			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142478881_142478882insAG			Somatic						NR_001296.3		WXS	Illumina GAIIx	Phase_I					0	40	+									RNA	INS	ENST00000603901.1	37																																																																																						0.554	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		8	108						8	108	---	---	---	---
TRPV5	56302	broad.mit.edu	37	7	142612493	142612494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:142612493_142612494insC	ENST00000265310.1	-	10	1617_1618	c.1269_1270insG	c.(1267-1272)gggccafs	p.P424fs		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	424					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACATGGAATGGCCCCCCAAGAA	0.505																																						ENST00000265310.1																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67						c.(1267-1272)ggcattfs		transient receptor potential cation channel, subfamily V, member 5				0,4264		0,0,2132						4.4	0.1			148	2,8252		0,2,4125	no	frameshift	TRPV5	NM_019841.4		0,2,6257	A1A1,A1R,RR		0.0242,0.0,0.016				2,12516				SO:0001589	frameshift_variant	56302				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	g.chr7:142612493_142612494insC	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1270dupG	7.37:g.142612499_142612499dupC	ENSP00000265310:p.Pro424fs		Somatic					p.I424fs	NM_019841.4	NP_062815.2	WXS	Illumina GAIIx	Phase_I	Q9NQA5	TRPV5_HUMAN			10	1617_1618	-	Melanoma(164;0.059)		424					A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Frame_Shift_Ins	INS	ENST00000265310.1	37	c.1269_1270insG	CCDS5875.1																																																																																				0.505	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841		8	419						8	419	---	---	---	---
AGAP3	116988	broad.mit.edu	37	7	150814456	150814457	+	Splice_Site	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr7:150814456_150814457insG	ENST00000463381.1	+	4	290		c.e4-1		AGAP3_ENST00000479901.1_Splice_Site|AGAP3_ENST00000335367.3_Splice_Site|AGAP3_ENST00000397238.2_Splice_Site|AGAP3_ENST00000476375.1_Splice_Site|AGAP3_ENST00000473312.1_Splice_Site	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3						cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCTCTGTCCTAGGGGGGCGGTT	0.579																																						ENST00000397238.2																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.e4-1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3																																				SO:0001630	splice_region_variant	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150814456_150814457insG	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.-206-1->G	7.37:g.150814462_150814462dupG			Somatic				AGAP3_ENST00000463381.1_Splice_Site|AGAP3_ENST00000476375.1_Splice_Site|AGAP3_ENST00000335367.3_Splice_Site|AGAP3_ENST00000473312.1_Splice_Site|AGAP3_ENST00000479901.1_Splice_Site		NM_031946.4	NP_114152.3	WXS	Illumina GAIIx	Phase_I	Q96P47	AGAP3_HUMAN			4	478	+								B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Splice_Site	INS	ENST00000463381.1	37																																																																																						0.579	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946	Intron	8	919						8	919	---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2088682	2088683	+	Frame_Shift_Ins	INS	-	-	G	rs34620424	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:2088682_2088683insG	ENST00000262113.4	+	33	3978_3979	c.3837_3838insG	c.(3838-3840)gggfs	p.G1280fs	MYOM2_ENST00000523438.1_Frame_Shift_Ins_p.G705fs|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1280					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATATGAGAATCGGGGGGAGTGA	0.446																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(3835-3840)atggggfs		myomesin 2																																				SO:0001589	frameshift_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2088682_2088683insG		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3843dupG	8.37:g.2088688_2088688dupG	ENSP00000262113:p.Gly1280fs		Somatic				MYOM2_ENST00000523438.1_Frame_Shift_Ins_p.MG704fs|MYOM2_ENST00000520298.1_3'UTR	p.MG1279fs	NM_003970.2	NP_003961.2	WXS	Illumina GAIIx	Phase_I	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	33	3978_3979	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	1279					Q7Z3Y2	Frame_Shift_Ins	INS	ENST00000262113.4	37	c.3837_3838insG	CCDS5957.1																																																																																				0.446	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		9	702						9	702	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3267089	3267090	+	Frame_Shift_Ins	INS	-	-	G	rs377751107		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:3267089_3267090insG	ENST00000520002.1	-	14	2157_2158	c.1602_1603insC	c.(1600-1605)cccgccfs	p.A535fs	CSMD1_ENST00000537824.1_Frame_Shift_Ins_p.A534fs|CSMD1_ENST00000602723.1_Frame_Shift_Ins_p.A535fs|CSMD1_ENST00000400186.3_Frame_Shift_Ins_p.A535fs|CSMD1_ENST00000542608.1_Frame_Shift_Ins_p.A534fs|CSMD1_ENST00000539096.1_Frame_Shift_Ins_p.A534fs|CSMD1_ENST00000602557.1_Frame_Shift_Ins_p.A535fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	535	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCCCATAGGCGGGGATTCCAG	0.48																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(1600-1605)cccctafs		CUB and Sushi multiple domains 1																																				SO:0001589	frameshift_variant	64478					integral to membrane		g.chr8:3267089_3267090insG			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1603dupC	8.37:g.3267093_3267093dupG	ENSP00000430733:p.Ala535fs		Somatic				CSMD1_ENST00000602723.1_Frame_Shift_Ins_p.L535fs|CSMD1_ENST00000400186.3_Frame_Shift_Ins_p.L535fs|CSMD1_ENST00000542608.1_Frame_Shift_Ins_p.L534fs|CSMD1_ENST00000539096.1_Frame_Shift_Ins_p.L534fs|CSMD1_ENST00000537824.1_Frame_Shift_Ins_p.L534fs|CSMD1_ENST00000602557.1_Frame_Shift_Ins_p.L535fs	p.L535fs			WXS	Illumina GAIIx	Phase_I	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	14	2157_2158	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	535			Sushi 3.		Q0H0J5|Q96QU9|Q96RM4	Frame_Shift_Ins	INS	ENST00000520002.1	37	c.1602_1603insC																																																																																					0.480	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		19	60						19	60	---	---	---	---
PRSS55	203074	broad.mit.edu	37	8	10387069	10387070	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:10387069_10387070insG	ENST00000328655.3	+	2	247_248	c.207_208insG	c.(208-210)gggfs	p.G70fs	PRSS55_ENST00000522210.1_Frame_Shift_Ins_p.G70fs|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	70	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CCAGAATCACAGGGGGGATGGA	0.5																																						ENST00000328655.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						c.(205-210)acggggfs		protease, serine, 55																																				SO:0001589	frameshift_variant	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10387069_10387070insG	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.213dupG	8.37:g.10387075_10387075dupG	ENSP00000333003:p.Gly70fs		Somatic				PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Frame_Shift_Ins_p.TG69fs	p.TG69fs	NM_198464.3	NP_940866.2	WXS	Illumina GAIIx	Phase_I	Q6UWB4	PRS55_HUMAN			2	247_248	+			69			Peptidase S1.		E5RJX5	Frame_Shift_Ins	INS	ENST00000328655.3	37	c.207_208insG	CCDS5976.1																																																																																				0.500	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		21	2840						21	2840	---	---	---	---
PSD3	23362	broad.mit.edu	37	8	18413784	18413785	+	Frame_Shift_Ins	INS	-	-	G	rs28651847	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:18413784_18413785insG	ENST00000327040.8	-	15	2964_2965	c.2862_2863insC	c.(2860-2865)cccgacfs	p.D955fs	PSD3_ENST00000428502.2_Frame_Shift_Ins_p.D284fs|PSD3_ENST00000440756.2_Frame_Shift_Ins_p.D957fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.D890fs|PSD3_ENST00000286485.8_Frame_Shift_Ins_p.D421fs	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	956					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.D421Y(1)|p.D957Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACCTTCTTGTCGGGGGGATATG	0.48																																						ENST00000440756.2																			2	Substitution - Missense(2)	p.D421Y(1)|p.D957Y(1)	kidney(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2866-2871)ccacaafs		pleckstrin and Sec7 domain containing 3																																				SO:0001589	frameshift_variant	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18413784_18413785insG	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2863dupC	8.37:g.18413790_18413790dupG	ENSP00000324127:p.Asp955fs		Somatic				PSD3_ENST00000428502.2_Frame_Shift_Ins_p.Q284fs|PSD3_ENST00000286485.8_Frame_Shift_Ins_p.Q421fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.Q890fs|PSD3_ENST00000327040.8_Frame_Shift_Ins_p.Q955fs	p.Q957fs			WXS	Illumina GAIIx	Phase_I	Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	15	2970_2971	-			956					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Frame_Shift_Ins	INS	ENST00000327040.8	37	c.2868_2869insC	CCDS43720.1																																																																																				0.480	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		13	1091						13	1091	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35584019	35584020	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:35584019_35584020insG	ENST00000404895.2	+	10	1981_1982	c.1653_1654insG	c.(1654-1656)gggfs	p.G552fs	UNC5D_ENST00000287272.2_Frame_Shift_Ins_p.G483fs|UNC5D_ENST00000449677.1_Frame_Shift_Ins_p.G128fs|UNC5D_ENST00000420357.1_Frame_Shift_Ins_p.G485fs|UNC5D_ENST00000416672.1_Frame_Shift_Ins_p.G557fs|UNC5D_ENST00000453357.2_Frame_Shift_Ins_p.G547fs	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	552	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTGGCCATTTAGGGGGGCGCTT	0.411																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(1444-1449)ttggggfs		unc-5 homolog D (C. elegans)																																				SO:0001589	frameshift_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35584019_35584020insG	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1659dupG	8.37:g.35584025_35584025dupG	ENSP00000385143:p.Gly552fs		Somatic				UNC5D_ENST00000420357.1_Frame_Shift_Ins_p.LG484fs|UNC5D_ENST00000416672.1_Frame_Shift_Ins_p.LG556fs|UNC5D_ENST00000404895.2_Frame_Shift_Ins_p.LG551fs|UNC5D_ENST00000449677.1_Frame_Shift_Ins_p.LG127fs|UNC5D_ENST00000453357.2_Frame_Shift_Ins_p.LG546fs	p.LG482fs			WXS	Illumina GAIIx	Phase_I	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	9	1466_1467	+			551					Q8WYP7	Frame_Shift_Ins	INS	ENST00000404895.2	37	c.1446_1447insG	CCDS6093.2																																																																																				0.411	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			8	628						8	628	---	---	---	---
KCNU1	157855	broad.mit.edu	37	8	36768517	36768518	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:36768517_36768518insC	ENST00000399881.3	+	22	2438_2439	c.2401_2402insC	c.(2401-2403)tccfs	p.S801fs		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	801					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGCTGTCTTGTCCCCCCCACCC	0.525																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(2401-2403)cccfs		potassium channel, subfamily U, member 1																																				SO:0001589	frameshift_variant	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36768517_36768518insC	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2408dupC	8.37:g.36768524_36768524dupC	ENSP00000382770:p.Ser801fs		Somatic					p.P801fs	NM_001031836.2	NP_001027006.2	WXS	Illumina GAIIx	Phase_I	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	22	2438_2439	+			801						Frame_Shift_Ins	INS	ENST00000399881.3	37	c.2401_2402insC	CCDS55220.1																																																																																				0.525	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		10	333						10	333	---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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		17	195						17	195	---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72981375	72981376	+	Frame_Shift_Ins	INS	-	-	T	rs61753713	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:72981375_72981376insT	ENST00000262209.4	-	3	533_534	c.326_327insA	c.(325-327)aacfs	p.N109fs		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	109					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTTCAATTTGGTTTTTTTCTAC	0.401																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(325-327)acafs		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)																																			SO:0001589	frameshift_variant	8989					integral to plasma membrane		g.chr8:72981375_72981376insT	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.327dupA	8.37:g.72981382_72981382dupT	ENSP00000262209:p.Asn109fs		Somatic					p.T109fs	NM_007332.2	NP_015628.2	WXS	Illumina GAIIx	Phase_I	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		3	533_534	-			109					A6NIN6	Frame_Shift_Ins	INS	ENST00000262209.4	37	c.326_327insA	CCDS34908.1																																																																																				0.401	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		7	794						7	794	---	---	---	---
KLHL38	340359	broad.mit.edu	37	8	124664918	124664919	+	Frame_Shift_Ins	INS	-	-	G	rs374189623		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr8:124664918_124664919insG	ENST00000325995.7	-	1	271_272	c.248_249insC	c.(247-249)ccafs	p.P83fs	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	83	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GGTCCAGGGTTGGGGGGTCAAT	0.579																																						ENST00000325995.7																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						c.(247-249)cacfs		kelch-like family member 38																																				SO:0001589	frameshift_variant	340359							g.chr8:124664918_124664919insG		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.249dupC	8.37:g.124664924_124664924dupG	ENSP00000321475:p.Pro83fs		Somatic				CTD-2552K11.2_ENST00000524355.1_RNA	p.H83fs	NM_001081675.2	NP_001075144.2	WXS	Illumina GAIIx	Phase_I	Q2WGJ6	KLH38_HUMAN			1	271_272	-			83			BTB.		A0PK12	Frame_Shift_Ins	INS	ENST00000325995.7	37	c.248_249insC	CCDS43766.1																																																																																				0.579	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			11	397						11	397	---	---	---	---
RLN2	6019	broad.mit.edu	37	9	5304560	5304561	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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	154						7	154	---	---	---	---
FREM1	158326	broad.mit.edu	37	9	14848680	14848681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:14848680_14848681insG	ENST00000380880.3	-	7	2026_2027	c.1243_1244insC	c.(1243-1245)cgtfs	p.R415fs	FREM1_ENST00000422223.2_Frame_Shift_Ins_p.R415fs|RNU6-1260P_ENST00000362944.1_RNA|FREM1_ENST00000380881.4_Frame_Shift_Ins_p.R416fs			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	415					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCAGGATACACGGGGGGCATTT	0.426																																						ENST00000380881.4																			0				breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1246-1248)tgtfs		FRAS1 related extracellular matrix 1																																				SO:0001589	frameshift_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14848680_14848681insG	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1244dupC	9.37:g.14848686_14848686dupG	ENSP00000370262:p.Arg415fs		Somatic				FREM1_ENST00000380880.3_Frame_Shift_Ins_p.C415fs|FREM1_ENST00000422223.2_Frame_Shift_Ins_p.C415fs	p.C416fs			WXS	Illumina GAIIx	Phase_I	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	8	2061_2062	-			415					B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Frame_Shift_Ins	INS	ENST00000380880.3	37	c.1246_1247insC	CCDS47952.1																																																																																				0.426	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		17	620						17	620	---	---	---	---
BNC2	54796	broad.mit.edu	37	9	16436374	16436375	+	Frame_Shift_Ins	INS	-	-	G	rs116528562|rs142872531	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:16436374_16436375insG	ENST00000380672.4	-	6	1874_1875	c.1817_1818insC	c.(1816-1818)ccgfs	p.P606fs	BNC2_ENST00000380667.2_Frame_Shift_Ins_p.P539fs|BNC2_ENST00000545497.1_Frame_Shift_Ins_p.P511fs|BNC2_ENST00000380666.2_Frame_Shift_Ins_p.P606fs	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CAGAGGGTGGCGGGGGGTGCTG	0.564																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(1816-1818)cccfs		basonuclin 2																																				SO:0001589	frameshift_variant	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16436374_16436375insG	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1818dupC	9.37:g.16436380_16436380dupG	ENSP00000370047:p.Pro606fs		Somatic				BNC2_ENST00000545497.1_Frame_Shift_Ins_p.P511fs|BNC2_ENST00000380666.2_Frame_Shift_Ins_p.P606fs|BNC2_ENST00000380667.2_Frame_Shift_Ins_p.P539fs	p.P606fs	NM_017637.5	NP_060107.3	WXS	Illumina GAIIx	Phase_I	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	1874_1875	-			606			Pro-rich.			Frame_Shift_Ins	INS	ENST00000380672.4	37	c.1817_1818insC	CCDS6482.2																																																																																				0.564	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		13	750						13	750	---	---	---	---
ADAMTSL1	92949	broad.mit.edu	37	9	18829842	18829843	+	Splice_Site	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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	118						8	118	---	---	---	---
TEK	7010	broad.mit.edu	37	9	27185544	27185545	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:27185544_27185545insC	ENST00000380036.4	+	9	1686_1687	c.1244_1245insC	c.(1243-1248)ctccccfs	p.LP415fs	TEK_ENST00000519097.1_Frame_Shift_Ins_p.LP268fs|TEK_ENST00000406359.4_Frame_Shift_Ins_p.LP372fs	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	415	Ig-like C2-type 2.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	CACCGGATCCTCCCCCCTGACT	0.436																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(1243-1245)cccfs		TEK tyrosine kinase, endothelial																																				SO:0001589	frameshift_variant	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27185544_27185545insC	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.1250dupC	9.37:g.27185550_27185550dupC	ENSP00000369375:p.Leu415fs		Somatic				TEK_ENST00000519097.1_Frame_Shift_Ins_p.P268fs|TEK_ENST00000406359.4_Frame_Shift_Ins_p.P372fs	p.P415fs	NM_000459.3	NP_000450.2	WXS	Illumina GAIIx	Phase_I	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	9	1686_1687	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	415			Ig-like C2-type 2.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Frame_Shift_Ins	INS	ENST00000380036.4	37	c.1244_1245insC	CCDS6519.1																																																																																				0.436	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			8	639						8	639	---	---	---	---
PIGO	84720	broad.mit.edu	37	9	35091522	35091523	+	Frame_Shift_Ins	INS	-	-	G	rs144233446		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:35091522_35091523insG	ENST00000378617.3	-	7	2755_2756	c.2361_2362insC	c.(2359-2364)cccactfs	p.T788fs	PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.T788fs|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	788					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.T788fs*5(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTGAGAAGTGGGGGGGCCTG	0.604																																						ENST00000378617.3																			1	Insertion - Frameshift(1)	p.T788fs*5(1)	ovary(1)	endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(2359-2364)cccttcfs		phosphatidylinositol glycan anchor biosynthesis, class O																																				SO:0001589	frameshift_variant	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35091522_35091523insG	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2362dupC	9.37:g.35091529_35091529dupG	ENSP00000367880:p.Thr788fs		Somatic				PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.F788fs	p.F788fs	NM_032634.3	NP_116023.2	WXS	Illumina GAIIx	Phase_I	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	2755_2756	-			788					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Frame_Shift_Ins	INS	ENST00000378617.3	37	c.2361_2362insC	CCDS6575.1																																																																																				0.604	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		13	121						13	121	---	---	---	---
C9orf85	138241	broad.mit.edu	37	9	74526716	74526717	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:74526716_74526717insA	ENST00000377031.3	+	1	256_257	c.66_67insA	c.(67-69)aaafs	p.K23fs	ABHD17B_ENST00000333421.6_5'Flank|ABHD17B_ENST00000377041.2_5'Flank|C9orf85_ENST00000334731.2_Frame_Shift_Ins_p.K23fs|C9orf85_ENST00000486911.2_Frame_Shift_Ins_p.K23fs			Q96MD7	CI085_HUMAN	chromosome 9 open reading frame 85	23	Lys-rich.									kidney(2)|large_intestine(1)|lung(4)	7						CGTTTAGCTTCAAAAATGACAA	0.535																																						ENST00000486911.2																			0				kidney(2)|large_intestine(1)|lung(4)	7						c.(64-69)ttaaaafs		chromosome 9 open reading frame 85																																				SO:0001589	frameshift_variant	138241							g.chr9:74526716_74526717insA	BC010179	CCDS6639.1	9q21.2	2012-03-16			ENSG00000155621	ENSG00000155621			28784	protein-coding gene	gene with protein product						12477932	Standard	NM_182505		Approved	MGC61599	uc004ain.3	Q96MD7	OTTHUMG00000020002	ENST00000377031.3:c.71dupA	9.37:g.74526721_74526721dupA	ENSP00000366230:p.Lys23fs		Somatic				C9orf85_ENST00000377031.3_Frame_Shift_Ins_p.LK22fs|C9orf85_ENST00000334731.2_Frame_Shift_Ins_p.LK22fs	p.LK22fs			WXS	Illumina GAIIx	Phase_I	Q96MD7	CI085_HUMAN			1	140_141	+			22					Q5W0N1|Q5W0N3|Q6PJW9|Q86U95	Frame_Shift_Ins	INS	ENST00000377031.3	37	c.66_67insA																																																																																					0.535	C9orf85-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052628.2	NM_182505		8	835						8	835	---	---	---	---
PCSK5	5125	broad.mit.edu	37	9	78686773	78686774	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:78686773_78686774insC	ENST00000545128.1	+	7	1391_1392	c.853_854insC	c.(853-855)gccfs	p.A285fs	PCSK5_ENST00000376767.3_Frame_Shift_Ins_p.A285fs|PCSK5_ENST00000376752.4_Frame_Shift_Ins_p.A285fs	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	285	Peptidase S8.				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGACGGACCAGCCCCCCTCACC	0.515																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(853-855)cccfs		proprotein convertase subtilisin/kexin type 5																																				SO:0001589	frameshift_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78686773_78686774insC		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.859dupC	9.37:g.78686779_78686779dupC	ENSP00000446280:p.Ala285fs		Somatic				PCSK5_ENST00000376752.4_Frame_Shift_Ins_p.P285fs|PCSK5_ENST00000376767.3_Frame_Shift_Ins_p.P285fs	p.P285fs	NM_001190482.1	NP_001177411.1	WXS	Illumina GAIIx	Phase_I	Q92824	PCSK5_HUMAN			7	1391_1392	+			285			Catalytic.		F5H2G7|Q13527|Q96EP4	Frame_Shift_Ins	INS	ENST00000545128.1	37	c.853_854insC	CCDS55320.1																																																																																				0.515	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	1010						7	1010	---	---	---	---
TLE1	7088	broad.mit.edu	37	9	84208131	84208132	+	Frame_Shift_Ins	INS	-	-	G	rs373201668		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:84208131_84208132insG	ENST00000376499.3	-	15	2453_2454	c.1389_1390insC	c.(1387-1392)cccgacfs	p.D464fs		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	464				DA -> TP (in Ref. 1; AAA61192). {ECO:0000305}.	multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						ATGAGGGCGTCGGGGGGAAAAG	0.564																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	ENST00000376499.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1387-1392)ccacgcfs		transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)																																				SO:0001589	frameshift_variant	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84208131_84208132insG		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1390dupC	9.37:g.84208137_84208137dupG	ENSP00000365682:p.Asp464fs		Somatic					p.R464fs	NM_005077.3	NP_005068.2	WXS	Illumina GAIIx	Phase_I	Q04724	TLE1_HUMAN			15	2453_2454	-			464	DA -> TP (in Ref. 1; AAA61192).				A8K495|Q5T3G4|Q969V9	Frame_Shift_Ins	INS	ENST00000376499.3	37	c.1389_1390insC	CCDS6661.1																																																																																				0.564	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		14	361						14	361	---	---	---	---
ROR2	4920	broad.mit.edu	37	9	94493291	94493292	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:94493291_94493292insC	ENST00000375708.3	-	7	1281_1282	c.1083_1084insG	c.(1081-1086)gggcacfs	p.H362fs	ROR2_ENST00000375715.1_Frame_Shift_Ins_p.H222fs|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	362	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CAGTAGGCGTGCCCCCCTCCAA	0.629																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1081-1086)ggacgcfs		receptor tyrosine kinase-like orphan receptor 2																																				SO:0001589	frameshift_variant	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94493291_94493292insC	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1084dupG	9.37:g.94493297_94493297dupC	ENSP00000364860:p.His362fs		Somatic				ROR2_ENST00000375715.1_Frame_Shift_Ins_p.R222fs|ROR2_ENST00000550066.1_5'UTR	p.R362fs	NM_004560.3	NP_004551.2	WXS	Illumina GAIIx	Phase_I	Q01974	ROR2_HUMAN			7	1281_1282	-			362			Kringle.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Frame_Shift_Ins	INS	ENST00000375708.3	37	c.1083_1084insG	CCDS6691.1																																																																																				0.629	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			9	523						9	523	---	---	---	---
ANKRD19P	138649	broad.mit.edu	37	9	95649123	95649124	+	RNA	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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			12	180						12	180	---	---	---	---
ZNF510	22869	broad.mit.edu	37	9	99521719	99521719	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:99521719delA	ENST00000375231.1	-	6	2043	c.1393delT	c.(1393-1395)tgtfs	p.C465fs	ZNF510_ENST00000223428.4_Frame_Shift_Del_p.C465fs			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	465					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTTTTTCCACATTCATTACAT	0.373																																						ENST00000375231.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21						c.(1393-1395)gtfs		zinc finger protein 510							101.0	102.0	102.0					9																	99521719		2203	4300	6503	SO:0001589	frameshift_variant	22869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99521719delA	AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"""Zinc fingers, C2H2-type"", ""-"""	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.1393delT	9.37:g.99521719delA	ENSP00000364379:p.Cys465fs		Somatic				ZNF510_ENST00000223428.4_Frame_Shift_Del_p.C465fs	p.C465fs			WXS	Illumina GAIIx	Phase_I	Q9Y2H8	ZN510_HUMAN			6	2043	-		Acute lymphoblastic leukemia(62;0.0527)	465					Q5SZP5	Frame_Shift_Del	DEL	ENST00000375231.1	37	c.1393delT	CCDS35074.1																																																																																				0.373	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930		7	231						7	231	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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		21	251						21	251	---	---	---	---
C9orf152	401546	broad.mit.edu	37	9	112963553	112963554	+	Frame_Shift_Ins	INS	-	-	G	rs554733063		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:112963553_112963554insG	ENST00000400613.4	-	2	1003_1004	c.394_395insC	c.(394-396)cagfs	p.Q132fs	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	132										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ACTGGTGTCCTGGGGGGAGGTT	0.564																																						ENST00000400613.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(394-396)ggafs		chromosome 9 open reading frame 152																																				SO:0001589	frameshift_variant	401546							g.chr9:112963553_112963554insG	BX648620	CCDS35102.2	9q31.3	2012-04-03			ENSG00000188959	ENSG00000188959			31455	protein-coding gene	gene with protein product							Standard	NM_001012993		Approved	bA470J20.2	uc011lwk.2	Q5JTZ5	OTTHUMG00000020478	ENST00000400613.4:c.395dupC	9.37:g.112963559_112963559dupG	ENSP00000383456:p.Gln132fs		Somatic				C9orf152_ENST00000473442.1_Intron	p.G132fs	NM_001012993.2	NP_001013011.2	WXS	Illumina GAIIx	Phase_I	Q5JTZ5	CI152_HUMAN			2	1003_1004	-			132					A8MWT6	Frame_Shift_Ins	INS	ENST00000400613.4	37	c.394_395insC	CCDS35102.2																																																																																				0.564	C9orf152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053602.2	NM_001012993		10	774						10	774	---	---	---	---
AMBP	259	broad.mit.edu	37	9	116824991	116824992	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:116824991_116824992insC	ENST00000265132.3	-	7	912_913	c.650_651insG	c.(649-651)ggtfs	p.G217fs		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	217	Glycopeptide (secretory piece).				cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CCAGTTGCCCACCCCCTGATCC	0.545																																						ENST00000265132.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11						c.(649-651)gggfs		alpha-1-microglobulin/bikunin precursor	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)																																			SO:0001589	frameshift_variant	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116824991_116824992insC	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.651dupG	9.37:g.116824996_116824996dupC	ENSP00000265132:p.Gly217fs		Somatic					p.G217fs	NM_001633.3	NP_001624.1	WXS	Illumina GAIIx	Phase_I	P02760	AMBP_HUMAN			7	912_913	-			217			Glycopeptide (secretory piece).		P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Frame_Shift_Ins	INS	ENST00000265132.3	37	c.650_651insG	CCDS6800.1																																																																																				0.545	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		7	541						7	541	---	---	---	---
CRB2	286204	broad.mit.edu	37	9	126125160	126125161	+	Frame_Shift_Ins	INS	-	-	C	rs371411754		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:126125160_126125161insC	ENST00000373631.3	+	2	112_113	c.111_112insC	c.(112-114)cccfs	p.P38fs	CRB2_ENST00000359999.3_Frame_Shift_Ins_p.P38fs	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	38					cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TGCCTTCAGAGCCCCCCAGTGC	0.649																																						ENST00000373631.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(109-114)gaccccfs		crumbs homolog 2 (Drosophila)																																				SO:0001589	frameshift_variant	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126125160_126125161insC	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.117dupC	9.37:g.126125166_126125166dupC	ENSP00000362734:p.Pro38fs		Somatic				CRB2_ENST00000359999.3_Frame_Shift_Ins_p.DP37fs	p.DP37fs	NM_173689.5	NP_775960.4	WXS	Illumina GAIIx	Phase_I	Q5IJ48	CRUM2_HUMAN			2	112_113	+			37					A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Frame_Shift_Ins	INS	ENST00000373631.3	37	c.111_112insC	CCDS6852.2																																																																																				0.649	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		7	100						7	100	---	---	---	---
LRSAM1	90678	broad.mit.edu	37	9	130236098	130236099	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:130236098_130236099insC	ENST00000323301.4	+	10	1242_1243	c.638_639insC	c.(637-642)taccccfs	p.YP213fs	LRSAM1_ENST00000300417.6_Frame_Shift_Ins_p.YP213fs|Y_RNA_ENST00000363918.1_RNA|LRSAM1_ENST00000373324.4_Frame_Shift_Ins_p.YP213fs|LRSAM1_ENST00000373322.1_Frame_Shift_Ins_p.YP213fs	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	213					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						CTGGAATACTACCCCCCTTCTC	0.579																																						ENST00000323301.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						c.(637-639)tccfs		leucine rich repeat and sterile alpha motif containing 1																																				SO:0001589	frameshift_variant	90678				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:130236098_130236099insC	AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.644dupC	9.37:g.130236104_130236104dupC	ENSP00000322937:p.Tyr213fs		Somatic				LRSAM1_ENST00000373322.1_Frame_Shift_Ins_p.S213fs|LRSAM1_ENST00000373324.4_Frame_Shift_Ins_p.S213fs|LRSAM1_ENST00000300417.6_Frame_Shift_Ins_p.S213fs	p.S213fs	NM_138361.5	NP_612370.3	WXS	Illumina GAIIx	Phase_I	Q6UWE0	LRSM1_HUMAN			10	1242_1243	+			213					Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Frame_Shift_Ins	INS	ENST00000323301.4	37	c.638_639insC	CCDS6873.1																																																																																				0.579	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	NM_138361		16	1760						16	1760	---	---	---	---
CERCAM	51148	broad.mit.edu	37	9	131186543	131186544	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:131186543_131186544insC	ENST00000372838.4	+	4	951_952	c.553_554insC	c.(553-555)accfs	p.T185fs	CERCAM_ENST00000372842.1_Frame_Shift_Ins_p.T107fs	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	185					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GTGTGGGATCACCCCCCAGGTG	0.634																																						ENST00000372842.1																			0				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						c.(319-321)cccfs		cerebral endothelial cell adhesion molecule																																				SO:0001589	frameshift_variant	51148				cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		g.chr9:131186543_131186544insC	AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.559dupC	9.37:g.131186549_131186549dupC	ENSP00000361929:p.Thr185fs		Somatic				CERCAM_ENST00000372838.4_Frame_Shift_Ins_p.P185fs	p.P107fs			WXS	Illumina GAIIx	Phase_I	Q5T4B2	GT253_HUMAN			5	3463_3464	+			185					A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Frame_Shift_Ins	INS	ENST00000372838.4	37	c.319_320insC	CCDS6901.2																																																																																				0.634	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	NM_016174		9	481						9	481	---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137717708	137717709	+	Frame_Shift_Ins	INS	-	-	G	rs560774273|rs368448060		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:137717708_137717709insG	ENST00000371817.3	+	63	5439_5440	c.5025_5026insG	c.(5026-5028)gggfs	p.G1676fs		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1676	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.G1676W(1)|p.A1675A(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACTTCACAGCCGGGGGGTCGAC	0.594																																						ENST00000371817.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.G1676W(1)|p.A1675A(1)	lung(2)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(5023-5028)gcggggfs		collagen, type V, alpha 1																																				SO:0001589	frameshift_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137717708_137717709insG	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.5031dupG	9.37:g.137717714_137717714dupG	ENSP00000360882:p.Gly1676fs		Somatic					p.AG1675fs	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	WXS	Illumina GAIIx	Phase_I	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	63	5439_5440	+		Myeloproliferative disorder(178;0.0341)	1675			Fibrillar collagen NC1.		Q15094|Q5SUX4	Frame_Shift_Ins	INS	ENST00000371817.3	37	c.5025_5026insG	CCDS6982.1																																																																																				0.594	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		8	245						8	245	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139390735	139390736	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:139390735_139390736insG	ENST00000277541.6	-	34	7530_7531	c.7455_7456insC	c.(7453-7458)ccctcgfs	p.S2486fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2486					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGTGCTGCGAGGGGGGCGTCA	0.683			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(7453-7458)cccgcafs		notch 1																																				SO:0001589	frameshift_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139390735_139390736insG	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.7456dupC	9.37:g.139390741_139390741dupG	ENSP00000277541:p.Ser2486fs	HNSCC(8;0.001)	Somatic					p.A2486fs	NM_017617.3	NP_060087.3	WXS	Illumina GAIIx	Phase_I	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	34	7530_7531	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2486					Q59ED8|Q5SXM3	Frame_Shift_Ins	INS	ENST00000277541.6	37	c.7455_7456insC	CCDS43905.1																																																																																				0.683	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		7	217						7	217	---	---	---	---
ZMYND19	116225	broad.mit.edu	37	9	140481541	140481542	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:140481541_140481542insC	ENST00000298585.2	-	4	462_463	c.236_237insG	c.(235-237)ggcfs	p.G79fs	ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	79						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synapse (GO:0045202)	metal ion binding (GO:0046872)	p.V80fs*34(2)		endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CCGGGGCCACGCCCCCCCGGTG	0.634																																						ENST00000298585.2																			2	Insertion - Frameshift(2)	p.V80fs*34(2)	large_intestine(2)	endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13						c.(235-237)ggtfs		zinc finger, MYND-type containing 19																																				SO:0001589	frameshift_variant	116225					Golgi apparatus|plasma membrane	zinc ion binding	g.chr9:140481541_140481542insC	BC012948	CCDS7048.1	9q34.3	2008-02-05			ENSG00000165724	ENSG00000165724		"""Zinc fingers, MYND-type"""	21146	protein-coding gene	gene with protein product		611424					Standard	NM_138462		Approved	MIZIP	uc004cno.1	Q96E35	OTTHUMG00000020992	ENST00000298585.2:c.237dupG	9.37:g.140481548_140481548dupC	ENSP00000298585:p.Gly79fs		Somatic				ZMYND19_ENST00000471957.1_5'UTR	p.G79fs	NM_138462.2	NP_612471.1	WXS	Illumina GAIIx	Phase_I	Q96E35	ZMY19_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)	4	462_463	-	all_cancers(76;0.106)		79					Q5T366	Frame_Shift_Ins	INS	ENST00000298585.2	37	c.236_237insG	CCDS7048.1																																																																																				0.634	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055356.1	NM_138462		74	1468						74	1468	---	---	---	---
EHMT1	79813	broad.mit.edu	37	9	140622908	140622909	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr9:140622908_140622909insC	ENST00000460843.1	+	4	777_778	c.750_751insC	c.(751-753)cccfs	p.P251fs	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Frame_Shift_Ins_p.P251fs|EHMT1_ENST00000334856.6_Frame_Shift_Ins_p.P220fs	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	251					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AGCAGCTTTTACCCCCCTTCCC	0.48																																						ENST00000460843.1																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(748-753)ttccccfs		euchromatic histone-lysine N-methyltransferase 1																																				SO:0001589	frameshift_variant	79813				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr9:140622908_140622909insC	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.756dupC	9.37:g.140622914_140622914dupC	ENSP00000417980:p.Pro251fs		Somatic				EHMT1_ENST00000334856.6_Frame_Shift_Ins_p.FP219fs|EHMT1_ENST00000462484.1_Frame_Shift_Ins_p.FP250fs|EHMT1_ENST00000371394.2_3'UTR	p.FP250fs	NM_024757.4	NP_079033.4	WXS	Illumina GAIIx	Phase_I	Q9H9B1	EHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)	4	777_778	+	all_cancers(76;0.164)		250					B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Frame_Shift_Ins	INS	ENST00000460843.1	37	c.750_751insC	CCDS7050.2																																																																																				0.480	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055371.2	NM_024757		7	468						7	468	---	---	---	---
NUDT5	11164	broad.mit.edu	37	10	12219814	12219815	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:12219814_12219815insC	ENST00000491614.1	-	5	661_662	c.266_267insG	c.(265-267)ggcfs	p.G89fs	NUDT5_ENST00000537776.1_Frame_Shift_Ins_p.G89fs|NUDT5_ENST00000378927.3_Frame_Shift_Ins_p.G89fs|NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378937.3_Frame_Shift_Ins_p.G102fs|NUDT5_ENST00000378940.3_Frame_Shift_Ins_p.G89fs			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	89	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				D-ribose catabolic process (GO:0019303)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|ribonucleoside diphosphate catabolic process (GO:0009191)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)|magnesium ion binding (GO:0000287)|nucleoside-diphosphatase activity (GO:0017110)|snoRNA binding (GO:0030515)			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				CTATGCAGTAGCCCCCCATTGG	0.52																																						ENST00000491614.1																			0				breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8						c.(265-267)gtafs		nudix (nucleoside diphosphate linked moiety X)-type motif 5																																				SO:0001589	frameshift_variant	11164				D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding	g.chr10:12219814_12219815insC	AF155832	CCDS7089.1	10p14	2008-05-14			ENSG00000165609	ENSG00000165609		"""Nudix motif containing"""	8052	protein-coding gene	gene with protein product		609230				10373642	Standard	NM_014142		Approved	hYSAH1, YSA1H	uc001ilj.3	Q9UKK9	OTTHUMG00000017682	ENST00000491614.1:c.267dupG	10.37:g.12219820_12219820dupC	ENSP00000419628:p.Gly89fs		Somatic				NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378937.3_Frame_Shift_Ins_p.V102fs|NUDT5_ENST00000378940.3_Frame_Shift_Ins_p.V89fs|NUDT5_ENST00000537776.1_Frame_Shift_Ins_p.V89fs|NUDT5_ENST00000378927.3_Frame_Shift_Ins_p.V89fs	p.V89fs			WXS	Illumina GAIIx	Phase_I	Q9UKK9	NUDT5_HUMAN			5	661_662	-		Renal(717;0.228)	89			Nudix hydrolase.		A8K516|Q6IAG0|Q9UH49	Frame_Shift_Ins	INS	ENST00000491614.1	37	c.266_267insG	CCDS7089.1																																																																																				0.520	NUDT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046811.1			8	563						8	563	---	---	---	---
ZNF32	7580	broad.mit.edu	37	10	44139605	44139605	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:44139605delG	ENST00000395797.1	-	3	903	c.715delC	c.(715-717)cacfs	p.H239fs	ZNF32-AS1_ENST00000453284.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000485351.1_5'Flank|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32_ENST00000374433.2_Frame_Shift_Del_p.H239fs	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	239					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(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TCTCCTGTGTGGATTTTGCCA	0.547																																						ENST00000395797.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14						c.(715-717)acfs		zinc finger protein 32							85.0	85.0	85.0					10																	44139605		2203	4300	6503	SO:0001589	frameshift_variant	7580				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr10:44139605delG	U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"""Zinc fingers, C2H2-type"""	13095	protein-coding gene	gene with protein product		194539	"""zinc finger protein 32 (KOX 30)"""				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.715delC	10.37:g.44139605delG	ENSP00000379143:p.His239fs		Somatic				ZNF32-AS1_ENST00000453284.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000374433.2_Frame_Shift_Del_p.H239fs	p.H239fs	NM_001005368.1	NP_001005368.1	WXS	Illumina GAIIx	Phase_I	P17041	ZNF32_HUMAN		Lung(62;0.179)	3	903	-		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)	239					Q92951	Frame_Shift_Del	DEL	ENST00000395797.1	37	c.715delC	CCDS7206.1																																																																																				0.547	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1	NM_006973		7	31						7	31	---	---	---	---
FAM21EP	100421577	broad.mit.edu	37	10	51821327	51821328	+	RNA	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:51821327_51821328insG	ENST00000456967.1	-	0	1306_1307					NR_038275.1																						TCGGTCAGCTTGGGGGGTGCGA	0.52																																						ENST00000456967.1																			0																																																			100421577							g.chr10:51821327_51821328insG																													10.37:g.51821333_51821333dupG			Somatic						NR_038275.1		WXS	Illumina GAIIx	Phase_I					0	1306_1307	-									RNA	INS	ENST00000456967.1	37																																																																																						0.520	RP11-324H6.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000048059.1			15	990						15	990	---	---	---	---
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1368_1369insC	c.(1369-1371)ccc>Cccc	p.P457fs	SEC24C_ENST00000345254.4_Splice_Site_p.P457fs|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000411652.2_Splice_Site_p.P338fs|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	457					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.51																																						ENST00000339365.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.e11-1		SEC24 family member C																																				SO:0001630	splice_region_variant	9632				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr10:75525559_75525560insC	D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.1367-1->C	10.37:g.75525566_75525566dupC			Somatic				SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice	p.VP456_splice	NM_004922.3	NP_004913.2	WXS	Illumina GAIIx	Phase_I	P53992	SC24C_HUMAN			11	1530_1531	+	Prostate(51;0.0112)		456					B4DZT4|Q8WV25	Splice_Site	INS	ENST00000339365.2	37	c.1366_splice	CCDS7332.1																																																																																				0.510	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048679.1		Frame_Shift_Ins	20	533						20	533	---	---	---	---
ZSWIM8	23053	broad.mit.edu	37	10	75560463	75560464	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:75560463_75560464insC	ENST00000605216.1	+	24	5294_5295	c.5077_5078insC	c.(5077-5079)tccfs	p.S1693fs	ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.S1652fs|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000604729.1_Frame_Shift_Ins_p.S1690fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.S1511fs|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.S1698fs|RP11-574K11.31_ENST00000603027.1_Intron	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1693							zinc ion binding (GO:0008270)										CTTCTCCCGCTCCCCCCCCTAC	0.604																																						ENST00000604729.1																			0											c.(5068-5070)cccfs		zinc finger, SWIM-type containing 8			,,	27,3721		0,27,1847					,,	4.9	1.0			133	23,7871		0,23,3924	no	frameshift,frameshift,frameshift	KIAA0913	NM_015037.3,NM_001242488.1,NM_001242487.1	,,	0,50,5771	A1A1,A1R,RR		0.2914,0.7204,0.4295	,,	,,		50,11592				SO:0001589	frameshift_variant	23053							g.chr10:75560463_75560464insC	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.5085dupC	10.37:g.75560471_75560471dupC	ENSP00000474748:p.Ser1693fs		Somatic				ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.P1652fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.P1511fs|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.P1698fs|ZSWIM8_ENST00000605216.1_Frame_Shift_Ins_p.P1693fs	p.P1690fs			WXS	Illumina GAIIx	Phase_I					24	5365_5366	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Frame_Shift_Ins	INS	ENST00000605216.1	37	c.5068_5069insC																																																																																					0.604	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		47	390						47	390	---	---	---	---
CDHR1	92211	broad.mit.edu	37	10	85972096	85972097	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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		11	282						11	282	---	---	---	---
TLL2	7093	broad.mit.edu	37	10	98164994	98164995	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:98164994_98164995insG	ENST00000357947.3	-	10	1486_1487	c.1261_1262insC	c.(1261-1263)cttfs	p.L421fs	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	421	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CTTACCCAAAAGGGGGGCTTTT	0.48																																						ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(1261-1263)tttfs		tolloid-like 2																																				SO:0001589	frameshift_variant	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98164994_98164995insG	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1262dupC	10.37:g.98165000_98165000dupG	ENSP00000350630:p.Leu421fs		Somatic				TLL2_ENST00000469598.1_5'UTR	p.F421fs	NM_012465.3	NP_036597.1	WXS	Illumina GAIIx	Phase_I	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	10	1486_1487	-		Colorectal(252;0.0846)	421			CUB 1.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Frame_Shift_Ins	INS	ENST00000357947.3	37	c.1261_1262insC	CCDS7449.1																																																																																				0.480	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			7	1115						7	1115	---	---	---	---
UBTD1	80019	broad.mit.edu	37	10	99330115	99330116	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:99330115_99330116insCT	ENST00000370664.3	+	3	855_856	c.519_520insCT	c.(520-522)ctcfs	p.L174fs	ANKRD2_ENST00000455090.1_5'Flank|ANKRD2_ENST00000370655.1_5'Flank|ANKRD2_ENST00000298808.5_5'Flank|ANKRD2_ENST00000307518.5_5'Flank	NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	174	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.									central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		CAGTGGGGCAGCTCAAGAGGCA	0.678																																					Pancreas(100;169 2668 32720)	ENST00000370664.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7						c.(517-522)catcaafs		ubiquitin domain containing 1																																				SO:0001589	frameshift_variant	80019							g.chr10:99330115_99330116insCT	BC007331	CCDS7465.1	10q24.2	2005-09-22			ENSG00000165886	ENSG00000165886			25683	protein-coding gene	gene with protein product						12477932	Standard	NM_024954		Approved	FLJ11807	uc001knv.1	Q9HAC8	OTTHUMG00000018856	ENST00000370664.3:c.520_521dupCT	10.37:g.99330116_99330117dupCT	ENSP00000359698:p.Leu174fs		Somatic					p.Q174fs	NM_024954.3	NP_079230.1	WXS	Illumina GAIIx	Phase_I	Q9HAC8	UBTD1_HUMAN		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)	3	855_856	+		Colorectal(252;0.162)	174			Ubiquitin-like.		D3DR57|Q53HI3	Frame_Shift_Ins	INS	ENST00000370664.3	37	c.519_520insCT	CCDS7465.1																																																																																				0.678	UBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049701.1	NM_024954		14	13						14	13	---	---	---	---
CPN1	1369	broad.mit.edu	37	10	101816832	101816833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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		23	1416						23	1416	---	---	---	---
SEC31B	25956	broad.mit.edu	37	10	102265153	102265154	+	Frame_Shift_Ins	INS	-	-	G	rs372919677		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:102265153_102265154insG	ENST00000370345.3	-	10	1240_1241	c.1143_1144insC	c.(1141-1146)cccaaafs	p.K382fs	SEC31B_ENST00000451524.1_Frame_Shift_Ins_p.K382fs	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	382					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CTAATCCATTTGGGGGGTTTTT	0.49																																						ENST00000370345.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36						c.(1141-1146)ccaatgfs		SEC31 homolog B (S. cerevisiae)																																				SO:0001589	frameshift_variant	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102265153_102265154insG	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.1144dupC	10.37:g.102265159_102265159dupG	ENSP00000359370:p.Lys382fs		Somatic				SEC31B_ENST00000451524.1_Frame_Shift_Ins_p.M382fs	p.M382fs	NM_015490.3	NP_056305.1	WXS	Illumina GAIIx	Phase_I	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	10	1240_1241	-		Colorectal(252;0.117)	382					B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Frame_Shift_Ins	INS	ENST00000370345.3	37	c.1143_1144insC	CCDS7495.1																																																																																				0.490	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		26	2052						26	2052	---	---	---	---
SEC31B	25956	broad.mit.edu	37	10	102265254	102265255	+	Splice_Site	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:102265254_102265255insG	ENST00000370345.3	-	10	1142		c.e10-2		SEC31B_ENST00000451524.1_Splice_Site	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)						protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AGAGGAGATCTGGGGGGAAAAG	0.53																																						ENST00000370345.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36						c.e10-2		SEC31 homolog B (S. cerevisiae)																																				SO:0001630	splice_region_variant	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102265254_102265255insG	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.1045-2->C	10.37:g.102265260_102265260dupG			Somatic				SEC31B_ENST00000451524.1_Splice_Site		NM_015490.3	NP_056305.1	WXS	Illumina GAIIx	Phase_I	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	10	1142	-		Colorectal(252;0.117)						B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Splice_Site	INS	ENST00000370345.3	37		CCDS7495.1																																																																																				0.530	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490	Intron	9	500						9	500	---	---	---	---
BTRC	8945	broad.mit.edu	37	10	103310572	103310573	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:103310572_103310573insC	ENST00000370187.3	+	14	1891_1892	c.1773_1774insC	c.(1774-1776)cccfs	p.P592fs	BTRC_ENST00000393441.4_Frame_Shift_Ins_p.P551fs|BTRC_ENST00000408038.2_Frame_Shift_Ins_p.P556fs|BTRC_ENST00000493877.1_3'UTR	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	592			P -> H (in dbSNP:rs2270439).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCCAAGCTGAACCCCCCCGTTC	0.431																																						ENST00000370187.3																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.(1771-1776)gaccccfs		beta-transducin repeat containing E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103310572_103310573insC	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.1780dupC	10.37:g.103310579_103310579dupC	ENSP00000359206:p.Pro592fs		Somatic				BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs|BTRC_ENST00000393441.4_Frame_Shift_Ins_p.DP550fs|BTRC_ENST00000493877.1_3'UTR	p.DP591fs	NM_033637.3	NP_378663.1	WXS	Illumina GAIIx	Phase_I	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	14	1891_1892	+		Colorectal(252;0.234)	591					B5MD49|Q5W141|Q5W142|Q9Y213	Frame_Shift_Ins	INS	ENST00000370187.3	37	c.1773_1774insC	CCDS7512.1																																																																																				0.431	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		11	197						11	197	---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124402882	124402883	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr10:124402882_124402883insC	ENST00000338354.3	+	53	7316_7317	c.7210_7211insC	c.(7210-7212)accfs	p.T2404fs	DMBT1_ENST00000359586.6_Frame_Shift_Ins_p.T1124fs|DMBT1_ENST00000330163.4_Frame_Shift_Ins_p.T1776fs|DMBT1_ENST00000368955.3_Frame_Shift_Ins_p.T2394fs|DMBT1_ENST00000368909.3_Frame_Shift_Ins_p.T2404fs|DMBT1_ENST00000344338.3_Frame_Shift_Ins_p.T2394fs|DMBT1_ENST00000368956.2_Frame_Shift_Ins_p.T1776fs			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2404					defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCAGCTGCAGACCCCCCCACGC	0.644																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(7210-7212)cccfs		deleted in malignant brain tumors 1																																				SO:0001589	frameshift_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124402882_124402883insC		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.7217dupC	10.37:g.124402889_124402889dupC	ENSP00000342210:p.Thr2404fs		Somatic				DMBT1_ENST00000344338.3_Frame_Shift_Ins_p.P2394fs|DMBT1_ENST00000359586.6_Frame_Shift_Ins_p.P1124fs|DMBT1_ENST00000368955.3_Frame_Shift_Ins_p.P2394fs|DMBT1_ENST00000330163.4_Frame_Shift_Ins_p.P1776fs|DMBT1_ENST00000368956.2_Frame_Shift_Ins_p.P1776fs|DMBT1_ENST00000368909.3_Frame_Shift_Ins_p.P2404fs	p.P2404fs			WXS	Illumina GAIIx	Phase_I	Q9UGM3	DMBT1_HUMAN			53	7316_7317	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2404					A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Frame_Shift_Ins	INS	ENST00000338354.3	37	c.7210_7211insC																																																																																					0.644	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		8	45						8	45	---	---	---	---
OR52B6	340980	broad.mit.edu	37	11	5602545	5602546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:5602545_5602546insC	ENST00000345043.2	+	1	439_440	c.439_440insC	c.(439-441)tccfs	p.S147fs	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCATCTGCTCCCCCCTGCGA	0.51																																						ENST00000345043.2																			0				endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12						c.(439-441)cccfs		olfactory receptor, family 52, subfamily B, member 6																																				SO:0001589	frameshift_variant	340980				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5602545_5602546insC	AB065858	CCDS41611.1	11p15.4	2012-08-09			ENSG00000187747	ENSG00000187747		"""GPCR / Class A : Olfactory receptors"""	15211	protein-coding gene	gene with protein product							Standard	NM_001005162		Approved		uc010qzi.2	Q8NGF0	OTTHUMG00000066906	ENST00000345043.2:c.445dupC	11.37:g.5602551_5602551dupC	ENSP00000341581:p.Ser147fs		Somatic				HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	p.P147fs	NM_001005162.2	NP_001005162.2	WXS	Illumina GAIIx	Phase_I	Q8NGF0	O52B6_HUMAN		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	439_440	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	147					Q6IFI7	Frame_Shift_Ins	INS	ENST00000345043.2	37	c.439_440insC	CCDS41611.1																																																																																				0.510	OR52B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143397.1	NM_001005162		9	611						9	611	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6655045	6655046	+	Frame_Shift_Ins	INS	-	-	G	rs528648883	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:6655045_6655046insG	ENST00000299441.3	-	4	2603_2604	c.2192_2193insC	c.(2191-2193)ccafs	p.P731fs	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	731	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGTAAAAAGTGGGGGGCTGTT	0.604																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(2191-2193)cctfs		dachsous cadherin-related 1																																				SO:0001589	frameshift_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6655045_6655046insG	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.2193dupC	11.37:g.6655051_6655051dupG	ENSP00000299441:p.Pro731fs		Somatic				RP11-732A19.6_ENST00000526633.1_RNA	p.P731fs	NM_003737.2	NP_003728.1	WXS	Illumina GAIIx	Phase_I	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	2603_2604	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	731			Cadherin 7.		O15098	Frame_Shift_Ins	INS	ENST00000299441.3	37	c.2192_2193insC	CCDS7771.1																																																																																				0.604	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		8	444						8	444	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6661724	6661725	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:6661724_6661725insG	ENST00000299441.3	-	2	1531_1532	c.1120_1121insC	c.(1120-1122)caafs	p.Q374fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	374	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCAGACACTTGGGGGGAGCCA	0.569																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(1120-1122)agtfs		dachsous cadherin-related 1																																				SO:0001589	frameshift_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6661724_6661725insG	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.1121dupC	11.37:g.6661730_6661730dupG	ENSP00000299441:p.Gln374fs		Somatic					p.S374fs	NM_003737.2	NP_003728.1	WXS	Illumina GAIIx	Phase_I	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1531_1532	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	374			Cadherin 4.		O15098	Frame_Shift_Ins	INS	ENST00000299441.3	37	c.1120_1121insC	CCDS7771.1																																																																																				0.569	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		9	335						9	335	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6662141	6662142	+	Frame_Shift_Ins	INS	-	-	G	rs188153920|rs143767864	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:6662141_6662142insG	ENST00000299441.3	-	2	1114_1115	c.703_704insC	c.(703-705)cggfs	p.R235fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	235	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R235Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGCCCTCCGGGGGGGTGAA	0.589																																						ENST00000299441.3																			1	Substitution - Missense(1)	p.R235Q(1)	urinary_tract(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(703-705)gagfs		dachsous cadherin-related 1				14,4250		0,14,2118						4.7	0.9			101	0,8254		0,0,4127	no	frameshift	DCHS1	NM_003737.2		0,14,6245	A1A1,A1R,RR		0.0,0.3283,0.1118				14,12504				SO:0001589	frameshift_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662141_6662142insG	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.704dupC	11.37:g.6662148_6662148dupG	ENSP00000299441:p.Arg235fs		Somatic					p.E235fs	NM_003737.2	NP_003728.1	WXS	Illumina GAIIx	Phase_I	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1114_1115	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	235			Cadherin 2.		O15098	Frame_Shift_Ins	INS	ENST00000299441.3	37	c.703_704insC	CCDS7771.1																																																																																				0.589	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		19	316						19	316	---	---	---	---
PAX6	5080	broad.mit.edu	37	11	31812316	31812317	+	Frame_Shift_Ins	INS	-	-	G	rs200015827		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:31812316_31812317insG	ENST00000379132.3	-	11	1404_1405	c.1124_1125insC	c.(1123-1125)ccafs	p.P375fs	PAX6_ENST00000379115.4_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379123.5_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000419022.1_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000241001.8_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379129.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379111.2_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379107.2_Frame_Shift_Ins_p.P389fs			P26367	PAX6_HUMAN	paired box 6	375	Pro/Ser/Thr-rich.		P -> Q (in AN; reduced DNA binding ability; dbSNP:rs200015827). {ECO:0000269|PubMed:11309364}.		astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|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 core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TCTGCATATGTGGGGGGGTGTA	0.589									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																													ENST00000419022.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	GRCh37	CM011452	PAX6	M		c.(1165-1167)ccafs		paired box 6																																				SO:0001589	frameshift_variant	5080	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation	Familial Cancer Database	WAGR syndrome	blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	g.chr11:31812316_31812317insG	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.1125dupC	11.37:g.31812323_31812323dupG	ENSP00000368427:p.Pro375fs		Somatic				PAX6_ENST00000379107.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379132.3_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379129.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379115.4_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379123.5_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000241001.8_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379111.2_Frame_Shift_Ins_p.P375fs	p.P389fs	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	WXS	Illumina GAIIx	Phase_I	P26367	PAX6_HUMAN			13	1634_1635	-	Lung SC(675;0.225)		375			Pro/Ser/Thr-rich.		Q6N006|Q99413	Frame_Shift_Ins	INS	ENST00000379132.3	37	c.1166_1167insC	CCDS31451.1																																																																																				0.589	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604		13	149						13	149	---	---	---	---
PRR5L	79899	broad.mit.edu	37	11	36484165	36484166	+	Frame_Shift_Ins	INS	-	-	C	rs143061946		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:36484165_36484166insC	ENST00000378867.3	+	10	1341_1342	c.986_987insC	c.(985-990)ttccccfs	p.FP329fs	PRR5L_ENST00000311599.5_Frame_Shift_Ins_p.FP256fs|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000530639.1_Frame_Shift_Ins_p.FP329fs	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	329					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CCACCCAGCTTCCCCCCGCCCC	0.673																																						ENST00000378867.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						c.(985-987)tccfs		proline rich 5 like																																				SO:0001589	frameshift_variant	79899							g.chr11:36484165_36484166insC		CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"""protein observed with Rictor-2"""	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.992dupC	11.37:g.36484171_36484171dupC	ENSP00000368144:p.Phe329fs		Somatic				PRR5L_ENST00000530639.1_Frame_Shift_Ins_p.S329fs|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Frame_Shift_Ins_p.S256fs	p.S329fs	NM_024841.4	NP_079117.3	WXS	Illumina GAIIx	Phase_I	Q6MZQ0	PRR5L_HUMAN			10	1341_1342	+			329					A4QN22|E9PKY1|Q96H46|Q9H7V4	Frame_Shift_Ins	INS	ENST00000378867.3	37	c.986_987insC	CCDS31463.1																																																																																				0.673	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	NM_024841		7	311						7	311	---	---	---	---
LRP4	4038	broad.mit.edu	37	11	46900582	46900588	+	Splice_Site	DEL	TGTAGAC	TGTAGAC	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:46900582_46900588delTGTAGAC	ENST00000378623.1	-	22	3248_3254	c.3006_3012delGTCTACA	c.(3004-3012)gtgtctaca>gt	p.VST1002fs		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1002					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)		TAGCACATGGTGTAGACACTGGGTAGA	0.594																																						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.e22-1		low density lipoprotein receptor-related protein 4																																				SO:0001630	splice_region_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46900582_46900588delTGTAGAC	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.3005-1GTCTACA>-	11.37:g.46900582_46900588delTGTAGAC			Somatic					p.VST1002_splice	NM_002334.3	NP_002325.2	WXS	Illumina GAIIx	Phase_I	O75096	LRP4_HUMAN		Lung(87;0.159)	22	3248_3254	-			1002					B2RN39|Q4AC85|Q5KTZ5	Splice_Site	DEL	ENST00000378623.1	37	c.3004_splice	CCDS31478.1																																																																																				0.594	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334	Frame_Shift_Del	62	455						62	455	---	---	---	---
PTPRJ	5795	broad.mit.edu	37	11	48149449	48149450	+	Frame_Shift_Ins	INS	-	-	G	rs373034804		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:48149449_48149450insG	ENST00000418331.2	+	7	1563_1564	c.1211_1212insG	c.(1210-1215)gcggggfs	p.AG404fs	PTPRJ_ENST00000440289.2_Frame_Shift_Ins_p.AG404fs	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	404	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ATACATGTGGCGGGGGAGACAG	0.535																																						ENST00000418331.2																			0				breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1210-1212)gggfs		protein tyrosine phosphatase, receptor type, J																																				SO:0001589	frameshift_variant	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48149449_48149450insG	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.1216dupG	11.37:g.48149454_48149454dupG	ENSP00000400010:p.Ala404fs		Somatic				PTPRJ_ENST00000440289.2_Frame_Shift_Ins_p.G404fs	p.G404fs	NM_002843.3	NP_002834.3	WXS	Illumina GAIIx	Phase_I	Q12913	PTPRJ_HUMAN			7	1563_1564	+			404			Fibronectin type-III 4.		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Frame_Shift_Ins	INS	ENST00000418331.2	37	c.1211_1212insG	CCDS7945.1																																																																																				0.535	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			9	1046						9	1046	---	---	---	---
OR4S1	256148	broad.mit.edu	37	11	48328524	48328525	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:48328524_48328525insC	ENST00000319988.1	+	1	750_751	c.750_751insC	c.(751-753)cccfs	p.P251fs		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGGTTCTCATGCCCCCCATGTT	0.48																																						ENST00000319988.1																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						c.(748-753)atccccfs		olfactory receptor, family 4, subfamily S, member 1																																				SO:0001589	frameshift_variant	256148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48328524_48328525insC	AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.756dupC	11.37:g.48328530_48328530dupC	ENSP00000321447:p.Pro251fs		Somatic					p.IP250fs	NM_001004725.1	NP_001004725.1	WXS	Illumina GAIIx	Phase_I	Q8NGB4	OR4S1_HUMAN			1	750_751	+			250					Q6IFB4	Frame_Shift_Ins	INS	ENST00000319988.1	37	c.750_751insC	CCDS31488.1																																																																																				0.480	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390556.1	NM_001004725		10	409						10	409	---	---	---	---
OR5AK2	390181	broad.mit.edu	37	11	56756931	56756932	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:56756931_56756932insC	ENST00000326855.2	+	1	585_586	c.543_544insC	c.(544-546)cccfs	p.P182fs		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TCTGTGATGTTCCCCCTATTCT	0.406																																						ENST00000326855.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(541-546)gtccccfs		olfactory receptor, family 5, subfamily AK, member 2																																				SO:0001589	frameshift_variant	390181				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56756931_56756932insC	AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"""GPCR / Class A : Olfactory receptors"""	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.548dupC	11.37:g.56756936_56756936dupC	ENSP00000322784:p.Pro182fs		Somatic					p.VP181fs	NM_001005323.1	NP_001005323.1	WXS	Illumina GAIIx	Phase_I	Q8NH90	O5AK2_HUMAN			1	585_586	+			181					B2RNZ9	Frame_Shift_Ins	INS	ENST00000326855.2	37	c.543_544insC	CCDS31538.1																																																																																				0.406	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323		8	1490						8	1490	---	---	---	---
SMTNL1	219537	broad.mit.edu	37	11	57308986	57308987	+	5'Flank	INS	-	-	G	rs188018082|rs373187377		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:57308986_57308987insG	ENST00000399154.2	+	0	0				SMTNL1_ENST00000457912.1_Frame_Shift_Ins_p.PG3fs|SMTNL1_ENST00000527972.1_5'Flank			A8MU46	SMTL1_HUMAN	smoothelin-like 1						negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						CCCATGCTCCCGGGGGCAGTTG	0.525																																						ENST00000457912.1																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						c.(7-9)cggfs		smoothelin-like 1																																				SO:0001631	upstream_gene_variant	219537							g.chr11:57308986_57308987insG	BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"""calponin homology-associated smooth muscle protein"""	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46			11.37:g.57308991_57308991dupG	Exception_encountered		Somatic					p.R3fs			WXS	Illumina GAIIx	Phase_I	E9PPJ3	E9PPJ3_HUMAN			1	8_9	+			0						Frame_Shift_Ins	INS	ENST00000399154.2	37	c.8_9insG																																																																																					0.525	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166203		10	1109						10	1109	---	---	---	---
ZDHHC5	25921	broad.mit.edu	37	11	57464257	57464258	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:57464257_57464258insC	ENST00000287169.3	+	10	2396_2397	c.1034_1035insC	c.(1033-1038)agccccfs	p.SP345fs	ZDHHC5_ENST00000527985.1_Frame_Shift_Ins_p.SP292fs	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	345					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						GCCAAGGACAGCCCCCCGACAC	0.515																																						ENST00000287169.3																			0				endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						c.(1033-1035)accfs		zinc finger, DHHC-type containing 5																																				SO:0001589	frameshift_variant	25921					integral to membrane	acyltransferase activity|zinc ion binding	g.chr11:57464257_57464258insC	AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.1040dupC	11.37:g.57464263_57464263dupC	ENSP00000287169:p.Ser345fs		Somatic				ZDHHC5_ENST00000527985.1_Frame_Shift_Ins_p.T292fs	p.T345fs	NM_015457.2	NP_056272.2	WXS	Illumina GAIIx	Phase_I	Q9C0B5	ZDHC5_HUMAN			10	2396_2397	+			345					Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Frame_Shift_Ins	INS	ENST00000287169.3	37	c.1034_1035insC	CCDS7965.1																																																																																				0.515	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1	NM_015457		14	381						14	381	---	---	---	---
TMX2	51075	broad.mit.edu	37	11	57505845	57505846	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:57505845_57505846insC	ENST00000278422.4	+	4	396_397	c.384_385insC	c.(385-387)cccfs	p.P129fs	C11orf31_ENST00000534355.1_5'Flank|TMX2_ENST00000378312.4_Frame_Shift_Ins_p.P91fs|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	129	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TGACGTGCAAACCCCCCCTATA	0.421																																						ENST00000278422.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						c.(382-387)aaccccfs		thioredoxin-related transmembrane protein 2																																				SO:0001589	frameshift_variant	51075				cell redox homeostasis	integral to membrane		g.chr11:57505845_57505846insC	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.391dupC	11.37:g.57505852_57505852dupC	ENSP00000278422:p.Pro129fs		Somatic				TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs|TMX2-CTNND1_ENST00000528395.1_Intron	p.NP128fs	NM_015959.3	NP_057043.1	WXS	Illumina GAIIx	Phase_I	Q9Y320	TMX2_HUMAN			4	396_397	+			128			Thioredoxin.		B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Frame_Shift_Ins	INS	ENST00000278422.4	37	c.384_385insC	CCDS7967.1																																																																																				0.421	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959		15	349						15	349	---	---	---	---
DTX4	23220	broad.mit.edu	37	11	58962826	58962827	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:58962826_58962827insC	ENST00000227451.3	+	7	1624_1625	c.1520_1521insC	c.(1519-1524)atccccfs	p.IP507fs	DTX4_ENST00000532982.1_Frame_Shift_Ins_p.IP401fs	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	507					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				ATCTACAGCATCCCCCCCGGCA	0.505																																						ENST00000227451.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1519-1521)accfs		deltex homolog 4 (Drosophila)																																				SO:0001589	frameshift_variant	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58962826_58962827insC	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.1527dupC	11.37:g.58962833_58962833dupC	ENSP00000227451:p.Ile507fs		Somatic				DTX4_ENST00000532982.1_Frame_Shift_Ins_p.T401fs	p.T507fs	NM_015177.1	NP_055992.1	WXS	Illumina GAIIx	Phase_I	Q9Y2E6	DTX4_HUMAN			7	1624_1625	+		all_epithelial(135;0.125)	507					Q0VF38	Frame_Shift_Ins	INS	ENST00000227451.3	37	c.1520_1521insC	CCDS44612.1																																																																																				0.505	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		10	326						10	326	---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61094367	61094368	+	Splice_Site	INS	-	-	G	rs555561982	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:61094367_61094368insG	ENST00000301764.7	-	5	947		c.e5-2		DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_Splice_Site	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa						DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTGAGGGTCCTGGGGGGGAAAG	0.515								Nucleotide excision repair (NER)																														ENST00000301764.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						c.e5-2	Nucleotide excision repair (NER)	damage-specific DNA binding protein 1, 127kDa				2,4260		0,2,2129						4.8	1.0			84	5,8245		0,5,4120	no	splice-3	DDB1	NM_001923.3		0,7,6249	A1A1,A1R,RR		0.0606,0.0469,0.0559				7,12505				SO:0001630	splice_region_variant	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61094367_61094368insG	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.550-2->C	11.37:g.61094374_61094374dupG			Somatic				DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_Splice_Site		NM_001923.4	NP_001914.3	WXS	Illumina GAIIx	Phase_I	Q16531	DDB1_HUMAN			5	947	-								A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Splice_Site	INS	ENST00000301764.7	37		CCDS31576.1																																																																																				0.515	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923	Intron	18	502						18	502	---	---	---	---
STIP1	10963	broad.mit.edu	37	11	63965370	63965370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:63965370delA	ENST00000305218.4	+	8	1094	c.947delA	c.(946-948)tacfs	p.Y316fs	STIP1_ENST00000358794.5_Frame_Shift_Del_p.Y363fs|STIP1_ENST00000538945.1_Frame_Shift_Del_p.Y292fs	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	316					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						GAAGAAAAGTACAAGGATGCC	0.453																																						ENST00000358794.5																			0				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						c.(1087-1089)tcfs		stress-induced-phosphoprotein 1							163.0	174.0	170.0					11																	63965370		2201	4297	6498	SO:0001589	frameshift_variant	10963				axon guidance|response to stress	Golgi apparatus|nucleus		g.chr11:63965370delA	BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"""Tetratricopeptide (TTC) repeat domain containing"""	11387	protein-coding gene	gene with protein product	"""Hsp70/Hsp90-organizing protein"""	605063	"""stress-induced-phosphoprotein 1"""			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.947delA	11.37:g.63965370delA	ENSP00000305958:p.Tyr316fs		Somatic				STIP1_ENST00000305218.4_Frame_Shift_Del_p.Y316fs|STIP1_ENST00000538945.1_Frame_Shift_Del_p.Y292fs	p.Y363fs			WXS	Illumina GAIIx	Phase_I	P31948	STIP1_HUMAN			8	1641	+			316					B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Frame_Shift_Del	DEL	ENST00000305218.4	37	c.1088delA	CCDS8058.1																																																																																				0.453	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2	NM_006819		82	324						82	324	---	---	---	---
RASGRP2	10235	broad.mit.edu	37	11	64508387	64508388	+	Intron	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:64508387_64508388insC	ENST00000354024.3	-	5	624				RASGRP2_ENST00000394430.1_Frame_Shift_Ins_p.A135fs|RASGRP2_ENST00000377489.1_Frame_Shift_Ins_p.A135fs|RASGRP2_ENST00000377486.3_Frame_Shift_Ins_p.A135fs|RASGRP2_ENST00000394428.1_3'UTR|RASGRP2_ENST00000394429.1_3'UTR|RASGRP2_ENST00000377494.1_Intron|RASGRP2_ENST00000377487.1_Frame_Shift_Ins_p.A135fs|RASGRP2_ENST00000377497.3_Intron|RASGRP2_ENST00000394432.3_Intron	NM_153819.1	NP_722541.1	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)						blood coagulation (GO:0007596)|cellular response to calcium ion (GO:0071277)|platelet activation (GO:0030168)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GATACTGAGTGCCCCCCCAGCC	0.53											OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000394430.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(403-405)actfs		RAS guanyl releasing protein 2 (calcium and DAG-regulated)																																				SO:0001627	intron_variant	10235				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity	g.chr11:64508387_64508388insC	U78170	CCDS31598.1	11q13	2014-09-17			ENSG00000068831	ENSG00000068831		"""EF-hand domain containing"""	9879	protein-coding gene	gene with protein product		605577				9789079	Standard	NM_001098670		Approved	CALDAG-GEFI	uc009ypv.3	Q7LDG7	OTTHUMG00000045420	ENST00000354024.3:c.371+31->G	11.37:g.64508394_64508394dupC			Somatic	OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1077	RASGRP2_ENST00000377497.3_Intron|RASGRP2_ENST00000394429.1_3'UTR|RASGRP2_ENST00000394432.3_Intron|RASGRP2_ENST00000377494.1_Intron|RASGRP2_ENST00000377486.3_Frame_Shift_Ins_p.T135fs|RASGRP2_ENST00000377487.1_Frame_Shift_Ins_p.T135fs|RASGRP2_ENST00000377489.1_Frame_Shift_Ins_p.T135fs|RASGRP2_ENST00000354024.3_Intron|RASGRP2_ENST00000394428.1_3'UTR	p.T135fs			WXS	Illumina GAIIx	Phase_I	Q7LDG7	GRP2_HUMAN			4	2125_2126	-			0					A6NDC7|O00538|Q9UL65	Frame_Shift_Ins	INS	ENST00000354024.3	37	c.403_404insG	CCDS31598.1																																																																																				0.530	RASGRP2-002	NOVEL	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142062.1	NM_153819		13	146						13	146	---	---	---	---
YIF1A	10897	broad.mit.edu	37	11	66052322	66052323	+	Intron	INS	-	-	G	rs566033579	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:66052322_66052323insG	ENST00000376901.4	-	7	920				YIF1A_ENST00000359461.6_Intron|YIF1A_ENST00000471387.2_Frame_Shift_Ins_p.I110fs|YIF1A_ENST00000496746.1_Intron|YIF1A_ENST00000526497.1_Intron|CNIH2_ENST00000530519.1_Intron	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						GGCAGGGGAATGGGGGGGTGCA	0.629																																						ENST00000471387.2																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						c.(325-330)ccttccfs		Yip1 interacting factor homolog A (S. cerevisiae)																																				SO:0001627	intron_variant	10897				protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane		g.chr11:66052322_66052323insG	AF004876	CCDS8132.1, CCDS73325.1	11q13	2009-01-05	2005-06-07	2005-06-07	ENSG00000174851	ENSG00000174851			16688	protein-coding gene	gene with protein product		611484	"""Yip1 interacting factor homolog (S. cerevisiae)"""	YIF1		8824393, 10970842, 18718466	Standard	NM_020470		Approved	YIF1P, 54TM, FinGER7	uc001ohk.4	O95070	OTTHUMG00000102079	ENST00000376901.4:c.735+20->C	11.37:g.66052329_66052329dupG			Somatic				YIF1A_ENST00000376901.4_Intron|YIF1A_ENST00000359461.6_Intron|CNIH2_ENST00000530519.1_Intron|YIF1A_ENST00000526497.1_Intron|YIF1A_ENST00000496746.1_Intron	p.S110fs			WXS	Illumina GAIIx	Phase_I	O95070	YIF1A_HUMAN			5	581_582	-			253					A6NM00|Q96G83|Q9BVD0	Frame_Shift_Ins	INS	ENST00000376901.4	37	c.327_328insC	CCDS8132.1																																																																																				0.629	YIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219903.3	NM_020470		8	53						8	53	---	---	---	---
ACTN3	89	broad.mit.edu	37	11	66321993	66321994	+	RNA	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:66321993_66321994insC	ENST00000502692.1	+	0	714				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly (GO:0048041)|muscle filament sliding (GO:0030049)|regulation of apoptotic process (GO:0042981)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						TCCTCCCACCTCCCCCCGACCC	0.53																																						ENST00000502692.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10								actinin, alpha 3 (gene/pseudogene)																																						89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66321993_66321994insC	M86407		11q13.2	2013-10-02	2012-10-05		ENSG00000248746	ENSG00000248746			165	protein-coding gene	gene with protein product		102574	"""actinin, alpha 3"""			1339456	Standard	NM_001104		Approved		uc031qbp.1	Q08043	OTTHUMG00000160815		11.37:g.66321999_66321999dupC			Somatic				ACTN3_ENST00000513398.1_RNA		NM_001258371.1	NP_001245300.1	WXS	Illumina GAIIx	Phase_I	Q08043	ACTN3_HUMAN			0	714	+								A6NP77|Q4KKV2	RNA	INS	ENST00000502692.1	37																																																																																						0.530	ACTN3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000362465.1	NM_001104		14	608						14	608	---	---	---	---
PPFIA1	8500	broad.mit.edu	37	11	70194406	70194407	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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				AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Frame_Shift_Ins_p.IP681fs	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		28	2329						28	2329	---	---	---	---
NUMA1	4926	broad.mit.edu	37	11	71746964	71746965	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:71746964_71746965insC	ENST00000393695.3	-	3	356_357	c.25_26insG	c.(25-27)gctfs	p.A9fs	NUMA1_ENST00000351960.6_Frame_Shift_Ins_p.A9fs|NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.A9fs	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GAGGAGTGCAGCCCCCCGGGTG	0.505			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(25-27)tgcfs		nuclear mitotic apparatus protein 1																																				SO:0001589	frameshift_variant	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71746964_71746965insC	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.26dupG	11.37:g.71746970_71746970dupC	ENSP00000377298:p.Ala9fs		Somatic				NUMA1_ENST00000351960.6_Frame_Shift_Ins_p.C9fs|NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.C9fs	p.C9fs	NM_006185.2	NP_006176.2	WXS	Illumina GAIIx	Phase_I	Q14980	NUMA1_HUMAN			3	356_357	-			9						Frame_Shift_Ins	INS	ENST00000393695.3	37	c.25_26insG	CCDS31633.1																																																																																				0.505	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			9	289						9	289	---	---	---	---
RSF1	51773	broad.mit.edu	37	11	77412023	77412024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:77412023_77412024insG	ENST00000308488.6	-	6	2552_2553	c.2250_2251insC	c.(2248-2253)cccaaafs	p.K751fs	RSF1_ENST00000480887.1_Frame_Shift_Ins_p.K499fs|RSF1_ENST00000360355.2_Frame_Shift_Ins_p.K720fs			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	751					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TCTAGAACTTTGGGGGGAGAAT	0.411																																						ENST00000308488.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2248-2253)ccaagtfs		remodeling and spacing factor 1																																				SO:0001589	frameshift_variant	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77412023_77412024insG	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.2251dupC	11.37:g.77412029_77412029dupG	ENSP00000311513:p.Lys751fs		Somatic				RSF1_ENST00000360355.2_Frame_Shift_Ins_p.S720fs|RSF1_ENST00000480887.1_Frame_Shift_Ins_p.S499fs	p.S751fs			WXS	Illumina GAIIx	Phase_I	Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		6	2552_2553	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		751					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Frame_Shift_Ins	INS	ENST00000308488.6	37	c.2250_2251insC	CCDS8253.1																																																																																				0.411	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		7	324						7	324	---	---	---	---
KIAA1377	57562	broad.mit.edu	37	11	101786091	101786092	+	Frame_Shift_Ins	INS	-	-	C	rs146972831		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:101786091_101786092insC	ENST00000263468.8	+	1	346_347	c.76_77insC	c.(76-78)gccfs	p.A26fs	ANGPTL5_ENST00000334289.3_Intron	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	26										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CCTCGACAGAGCCCCCCTCGGC	0.663																																						ENST00000263468.8																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.(76-78)cccfs		KIAA1377			,	1,4249		0,1,2124					,	1.9	0.0			81	0,8248		0,0,4124	no	intron,frameshift	KIAA1377,ANGPTL5	NM_178127.4,NM_020802.2	,	0,1,6248	A1A1,A1R,RR		0.0,0.0235,0.0080	,	,		1,12497				SO:0001589	frameshift_variant	57562						protein binding	g.chr11:101786091_101786092insC	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.82dupC	11.37:g.101786097_101786097dupC	ENSP00000263468:p.Ala26fs		Somatic				ANGPTL5_ENST00000334289.3_Intron	p.P26fs	NM_020802.2	NP_065853.2	WXS	Illumina GAIIx	Phase_I	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	1	346_347	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	26					Q4G0U6	Frame_Shift_Ins	INS	ENST00000263468.8	37	c.76_77insC	CCDS31658.1																																																																																				0.663	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		9	927						9	927	---	---	---	---
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G	rs576548045		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:113076860_113076861insG	ENST00000533760.1	+	5	831_832	c.232_233insG	c.(232-234)cggfs	p.R78fs	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000316851.7_Frame_Shift_Ins_p.R186fs|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.R195fs	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495																																						ENST00000316851.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(556-558)gggfs		neural cell adhesion molecule 1																																				SO:0001589	frameshift_variant	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113076860_113076861insG		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.238dupG	11.37:g.113076866_113076866dupG	ENSP00000473281:p.Arg78fs		Somatic				NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs|NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs	p.G186fs	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	WXS	Illumina GAIIx	Phase_I	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	4	556_557	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	196			Ig-like C2-type 2.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Frame_Shift_Ins	INS	ENST00000533760.1	37	c.556_557insG																																																																																					0.495	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		8	396						8	396	---	---	---	---
CLDN25	644672	broad.mit.edu	37	11	113650550	113650551	+	Frame_Shift_Ins	INS	-	-	G	rs367566026		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:113650550_113650551insG	ENST00000453129.2	+	1	82_83	c.33_34insG	c.(34-36)gggfs	p.G12fs		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.L14fs*24(1)		large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						AAGTCCAGCTCGGGGGGCTACT	0.55																																						ENST00000453129.2																			1	Insertion - Frameshift(1)	p.L14fs*24(1)	ovary(1)	large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						c.(31-36)ctggggfs		claudin 25																																				SO:0001589	frameshift_variant	644672					integral to membrane|tight junction	structural molecule activity	g.chr11:113650550_113650551insG		CCDS44736.1	11q23.2	2009-09-22			ENSG00000228607	ENSG00000228607			37218	protein-coding gene	gene with protein product							Standard	NM_001101389		Approved		uc009yyw.1	C9JDP6	OTTHUMG00000168193	ENST00000453129.2:c.39dupG	11.37:g.113650556_113650556dupG	ENSP00000396304:p.Gly12fs		Somatic					p.LG11fs	NM_001101389.1	NP_001094859.1	WXS	Illumina GAIIx	Phase_I	C9JDP6	CLD25_HUMAN			1	82_83	+			11						Frame_Shift_Ins	INS	ENST00000453129.2	37	c.33_34insG	CCDS44736.1																																																																																				0.550	CLDN25-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398706.1	NM_001101389		9	245						9	245	---	---	---	---
SIK3	23387	broad.mit.edu	37	11	116733010	116733011	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:116733010_116733011insC	ENST00000292055.4	-	16	1853_1854	c.1818_1819insG	c.(1816-1821)gggcagfs	p.Q607fs	SIK3_ENST00000375288.1_Frame_Shift_Ins_p.G38fs|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375300.1_Frame_Shift_Ins_p.Q665fs|SIK3_ENST00000542607.1_Frame_Shift_Ins_p.Q607fs|SIK3_ENST00000446921.2_Frame_Shift_Ins_p.Q665fs|SIK3_ENST00000434315.2_Frame_Shift_Ins_p.Q506fs	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	607	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCATCAATCTGCCCCCCGTACA	0.5																																						ENST00000375300.1																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(1990-1995)ggagatfs		SIK family kinase 3																																				SO:0001589	frameshift_variant	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116733010_116733011insC	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.1819dupG	11.37:g.116733016_116733016dupC	ENSP00000292055:p.Gln607fs		Somatic				SIK3_ENST00000446921.2_Frame_Shift_Ins_p.D665fs|SIK3_ENST00000292055.4_Frame_Shift_Ins_p.D607fs|SIK3_ENST00000375288.1_Frame_Shift_Ins_p.E38fs|SIK3_ENST00000542607.1_Frame_Shift_Ins_p.D607fs|SIK3_ENST00000434315.2_Frame_Shift_Ins_p.D506fs|SIK3_ENST00000488337.1_5'UTR	p.D665fs			WXS	Illumina GAIIx	Phase_I	Q9Y2K2	SIK3_HUMAN			16	1997_1998	-			607			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Frame_Shift_Ins	INS	ENST00000292055.4	37	c.1992_1993insG	CCDS8379.1																																																																																				0.500	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		19	723						19	723	---	---	---	---
NLRX1	79671	broad.mit.edu	37	11	119050610	119050611	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:119050610_119050611insG	ENST00000409109.1	+	7	2467_2468	c.1880_1881insG	c.(1879-1884)atggggfs	p.MG627fs	NLRX1_ENST00000409265.4_Frame_Shift_Ins_p.MG627fs|NLRX1_ENST00000292199.2_Frame_Shift_Ins_p.MG627fs|NLRX1_ENST00000525863.1_Frame_Shift_Ins_p.MG627fs|NLRX1_ENST00000409991.1_Frame_Shift_Ins_p.MG627fs	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	627	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCATGTTCATGGGGGGGCTTC	0.624																																						ENST00000409109.1																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1879-1881)aggfs		NLR family member X1																																				SO:0001589	frameshift_variant	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119050610_119050611insG	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1887dupG	11.37:g.119050617_119050617dupG	ENSP00000387334:p.Met627fs		Somatic				NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000292199.2_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000409991.1_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000525863.1_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000409265.4_Frame_Shift_Ins_p.R627fs	p.R627fs			WXS	Illumina GAIIx	Phase_I	Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	7	2467_2468	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	627			Required for the repression of MAVS- induced interferon signaling.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Frame_Shift_Ins	INS	ENST00000409109.1	37	c.1880_1881insG	CCDS8416.1																																																																																				0.624	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		7	130						7	130	---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:123900396_123900397insC	ENST00000431524.1	+	1	100_101	c.67_68insC	c.(67-69)gccfs	p.A23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A23T(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGCGCTGGACGCCCCCCTCTTT	0.589																																						ENST00000431524.1																			1	Substitution - Missense(1)	p.A23T(1)	endometrium(1)	breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(67-69)cccfs		olfactory receptor, family 10, subfamily G, member 8																																				SO:0001589	frameshift_variant	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900396_123900397insC	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.73dupC	11.37:g.123900402_123900402dupC	ENSP00000389072:p.Ala23fs		Somatic					p.P23fs	NM_001004464.1	NP_001004464.1	WXS	Illumina GAIIx	Phase_I	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	100_101	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	23					B2RNJ3|Q6IEV2	Frame_Shift_Ins	INS	ENST00000431524.1	37	c.67_68insC	CCDS31704.1																																																																																				0.589	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		13	535						13	535	---	---	---	---
ROBO4	54538	broad.mit.edu	37	11	124756678	124756679	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr11:124756678_124756679insG	ENST00000306534.3	-	16	2960_2961	c.2475_2476insC	c.(2473-2478)cccaccfs	p.T826fs	ROBO4_ENST00000533054.1_Frame_Shift_Ins_p.T681fs|RP11-664I21.5_ENST00000524453.1_RNA	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	826					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CCATAGGTGGTGGGGGGTGAAG	0.599																																						ENST00000306534.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76						c.(2473-2478)ccccacfs		roundabout, axon guidance receptor, homolog 4 (Drosophila)																																				SO:0001589	frameshift_variant	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124756678_124756679insG	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.2476dupC	11.37:g.124756684_124756684dupG	ENSP00000304945:p.Thr826fs		Somatic				ROBO4_ENST00000533054.1_Frame_Shift_Ins_p.H681fs|RP11-664I21.5_ENST00000524453.1_RNA	p.H826fs	NM_019055.5	NP_061928.4	WXS	Illumina GAIIx	Phase_I	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	16	2960_2961	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	826					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Frame_Shift_Ins	INS	ENST00000306534.3	37	c.2475_2476insC	CCDS8455.1																																																																																				0.599	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		8	790						8	790	---	---	---	---
FKBP4	2288	broad.mit.edu	37	12	2907010	2907011	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:2907010_2907011insC	ENST00000001008.4	+	3	553_554	c.366_367insC	c.(367-369)cccfs	p.P123fs	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	123	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			CTCCAAAGATTCCCCCCAATGC	0.554																																						ENST00000001008.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14						c.(364-369)atccccfs		FK506 binding protein 4, 59kDa	Dimethyl sulfoxide(DB01093)																																			SO:0001589	frameshift_variant	2288				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging	g.chr12:2907010_2907011insC	M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"""Tetratricopeptide (TTC) repeat domain containing"""	3720	protein-coding gene	gene with protein product		600611	"""FK506-binding protein 4 (59kD)"""			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.372dupC	12.37:g.2907016_2907016dupC	ENSP00000001008:p.Pro123fs		Somatic				RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	p.IP122fs	NM_002014.3	NP_002005.1	WXS	Illumina GAIIx	Phase_I	Q02790	FKBP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00105)		3	553_554	+			122			PPIase FKBP-type 1.		D3DUQ1|Q9UCP1|Q9UCV7	Frame_Shift_Ins	INS	ENST00000001008.4	37	c.366_367insC	CCDS8512.1																																																																																				0.554	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206861.1			9	1087						9	1087	---	---	---	---
KCNA5	3741	broad.mit.edu	37	12	5154786	5154787	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:5154786_5154787insG	ENST00000252321.3	+	1	1702_1703	c.1473_1474insG	c.(1474-1476)gggfs	p.G492fs		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	492					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	CCATCACTGTTGGGGGCAAGAT	0.599																																						ENST00000252321.3																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						c.(1471-1476)gtggggfs		potassium voltage-gated channel, shaker-related subfamily, member 5																																				SO:0001589	frameshift_variant	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5154786_5154787insG	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1478dupG	12.37:g.5154791_5154791dupG	ENSP00000252321:p.Gly492fs		Somatic					p.VG491fs	NM_002234.3	NP_002225.2	WXS	Illumina GAIIx	Phase_I	P22460	KCNA5_HUMAN			1	1702_1703	+			491					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Frame_Shift_Ins	INS	ENST00000252321.3	37	c.1473_1474insG	CCDS8536.1																																																																																				0.599	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		18	1978						18	1978	---	---	---	---
MRPL51	51258	broad.mit.edu	37	12	6602094	6602095	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:6602094_6602095insG	ENST00000229238.3	-	2	584_585	c.123_124insC	c.(121-126)cccaaafs	p.K42fs	NCAPD2_ENST00000315579.5_5'Flank|MRPL51_ENST00000543703.1_Intron|NCAPD2_ENST00000545962.1_5'Flank|MRPL51_ENST00000543164.1_5'UTR	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	42					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(1)|lung(3)	6						TCAACCACTTTGGGGGGCGGGA	0.51																																						ENST00000229238.3																			0				kidney(2)|large_intestine(1)|lung(3)	6						c.(121-126)ccaagtfs		mitochondrial ribosomal protein L51																																				SO:0001589	frameshift_variant	51258				translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome	g.chr12:6602094_6602095insG	AB051355	CCDS8547.1	12p13.3-p13.1	2014-02-19	2002-01-07	2002-01-11		ENSG00000111639		"""Mitochondrial ribosomal proteins / large subunits"""	14044	protein-coding gene	gene with protein product		611855	"""mitochondrial ribosomal protein 64"""	MRP64		11551941, 11543634	Standard	NM_016497		Approved	CDA09, HSPC241, bMRP64	uc001qom.2	Q4U2R6		ENST00000229238.3:c.124dupC	12.37:g.6602100_6602100dupG	ENSP00000229238:p.Lys42fs		Somatic				MRPL51_ENST00000543703.1_Intron|MRPL51_ENST00000543164.1_5'UTR	p.S42fs	NM_016497.3	NP_057581.2	WXS	Illumina GAIIx	Phase_I	Q4U2R6	RM51_HUMAN			2	584_585	-			42					Q96Q57|Q9BQ36|Q9P0N7	Frame_Shift_Ins	INS	ENST00000229238.3	37	c.123_124insC	CCDS8547.1																																																																																				0.510	MRPL51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399956.1	NM_016497		25	1169						25	1169	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6701872	6701873	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:6701872_6701873insG	ENST00000357008.2	-	18	2926_2927	c.2763_2764insC	c.(2761-2766)cccgagfs	p.E922fs	CHD4_ENST00000309577.6_Frame_Shift_Ins_p.E922fs|CHD4_ENST00000544040.1_Frame_Shift_Ins_p.E915fs|CHD4_ENST00000544484.1_Frame_Shift_Ins_p.E919fs	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	922	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.P921P(2)		central_nervous_system(2)	2						TGGAACCTCTCGGGGGTGAGAA	0.421																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			2	Substitution - coding silent(2)	p.P921P(2)	kidney(2)	central_nervous_system(2)	2						c.(2761-2766)ccagagfs		chromodomain helicase DNA binding protein 4																																				SO:0001589	frameshift_variant	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6701872_6701873insG	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2764dupC	12.37:g.6701877_6701877dupG	ENSP00000349508:p.Glu922fs		Somatic				CHD4_ENST00000544040.1_Frame_Shift_Ins_p.E915fs|CHD4_ENST00000544484.1_Frame_Shift_Ins_p.E919fs|CHD4_ENST00000357008.2_Frame_Shift_Ins_p.E922fs	p.E922fs			WXS	Illumina GAIIx	Phase_I	Q14839	CHD4_HUMAN			18	2926_2927	-			922			Helicase ATP-binding.		Q8IXZ5	Frame_Shift_Ins	INS	ENST00000357008.2	37	c.2763_2764insC	CCDS8552.1																																																																																				0.421	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		7	769						7	769	---	---	---	---
CD4	920	broad.mit.edu	37	12	6924042	6924043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:6924042_6924043insG	ENST00000011653.4	+	5	749_750	c.491_492insG	c.(490-495)caggggfs	p.QG164fs	CD4_ENST00000541982.1_Frame_Shift_Ins_p.QG109fs|CD4_ENST00000538827.1_3'UTR	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		27	518						27	518	---	---	---	---
CD4	920	broad.mit.edu	37	12	6927635	6927636	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:6927635_6927636insG	ENST00000011653.4	+	8	1463_1464	c.1205_1206insG	c.(1204-1209)ctggggfs	p.LG402fs		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	402					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)	CTGATTGTGCTGGGGGGCGTCG	0.629																																						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.(1204-1206)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.chr12:6927635_6927636insG	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.1211dupG	12.37:g.6927641_6927641dupG	ENSP00000011653:p.Leu402fs		Somatic					p.R402fs	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			8	1463_1464	+		Myeloproliferative disorder(1001;0.0122)	402					B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Frame_Shift_Ins	INS	ENST00000011653.4	37	c.1205_1206insG	CCDS8562.1																																																																																				0.629	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		7	370						7	370	---	---	---	---
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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			9	548						9	548	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	14018756	14018757	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:14018756_14018757insC	ENST00000609686.1	-	2	595_596	c.386_387insG	c.(385-387)ggcfs	p.G129fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	129					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)	TCATAGAGGAGCCCCCGTGGAT	0.52																																						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.(385-387)gtcfs		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.chr12:14018756_14018757insC		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.387dupG	12.37:g.14018761_14018761dupC	ENSP00000477455:p.Gly129fs		Somatic					p.V129fs	NM_000834.3	NP_000825.2	WXS	Illumina GAIIx	Phase_I	Q13224	NMDE2_HUMAN			2	595_596	-			129					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Frame_Shift_Ins	INS	ENST00000609686.1	37	c.386_387insG	CCDS8662.1																																																																																				0.520	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			8	1221						8	1221	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206|rs398122823		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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			35	572						35	572	---	---	---	---
GUCY2C	2984	broad.mit.edu	37	12	14825856	14825857	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:14825856_14825857insC	ENST00000261170.3	-	9	1256_1257	c.1120_1121insG	c.(1120-1122)gatfs	p.D374fs	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	374					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	ACTGTCAACATCCCCCCAGTCA	0.47																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(1120-1122)tgtfs		guanylate cyclase 2C (heat stable enterotoxin receptor)																																				SO:0001589	frameshift_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14825856_14825857insC		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1121dupG	12.37:g.14825862_14825862dupC	ENSP00000261170:p.Asp374fs		Somatic				RP11-174G6.1_ENST00000501178.2_RNA	p.C374fs	NM_004963.3	NP_004954.2	WXS	Illumina GAIIx	Phase_I	P25092	GUC2C_HUMAN			9	1256_1257	-			374					B2RMY6	Frame_Shift_Ins	INS	ENST00000261170.3	37	c.1120_1121insG	CCDS8664.1																																																																																				0.470	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			13	1342						13	1342	---	---	---	---
ART4	420	broad.mit.edu	37	12	14993710	14993711	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:14993710_14993711insC	ENST00000228936.4	-	2	902_903	c.521_522insG	c.(520-522)agcfs	p.S174fs	RP11-233G1.4_ENST00000444324.2_RNA|C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)	174					arginine metabolic process (GO:0006525)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						TCTCCATGATGCTGTCTTTCCT	0.48																																						ENST00000228936.4																			0				large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						c.(520-522)aatfs		ADP-ribosyltransferase 4																																				SO:0001589	frameshift_variant	420				arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	g.chr12:14993710_14993711insC	X95826	CCDS8668.1	12q13.2-q13.3	2014-07-18	2014-01-02	2006-01-12	ENSG00000111339	ENSG00000111339		"""CD molecules"", ""Blood group antigens"""	726	protein-coding gene	gene with protein product		110600	"""Dombrock blood group"", ""ADP-ribosyltransferase 4 (DO blood group)"", ""ADP-ribosyltransferase 4"""	DO		9119374	Standard	NM_021071		Approved	DOK1, CD297	uc001rcl.1	Q93070	OTTHUMG00000168738	ENST00000228936.4:c.522dupG	12.37:g.14993711_14993711dupC	ENSP00000228936:p.Ser174fs		Somatic				C12orf60_ENST00000527783.1_Intron	p.N174fs	NM_021071.2	NP_066549.2	WXS	Illumina GAIIx	Phase_I	Q93070	NAR4_HUMAN			2	902_903	-			174					Q9BZ50|Q9BZ51|Q9HB06	Frame_Shift_Ins	INS	ENST00000228936.4	37	c.521_522insG	CCDS8668.1																																																																																				0.480	ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400859.1	NM_021071		7	457						7	457	---	---	---	---
SLCO1C1	53919	broad.mit.edu	37	12	20885883	20885884	+	Frame_Shift_Ins	INS	-	-	G	rs368038819		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:20885883_20885884insG	ENST00000266509.2	+	10	1595_1596	c.1227_1228insG	c.(1228-1230)gggfs	p.G410fs	SLCO1C1_ENST00000381552.1_Frame_Shift_Ins_p.G410fs|SLCO1C1_ENST00000540354.1_Frame_Shift_Ins_p.G361fs|SLCO1C1_ENST00000545102.1_Frame_Shift_Ins_p.G292fs|SLCO1C1_ENST00000545604.1_Frame_Shift_Ins_p.G410fs	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	410					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	GAATATTCTCTGGGGGGATAGT	0.381																																						ENST00000381552.1																			0				NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(1225-1230)tcggggfs		solute carrier organic anion transporter family, member 1C1			,,,	0,4264		0,0,2132					,,,	1.2	1.0			100	1,8253		0,1,4126	no	frameshift,frameshift,frameshift,frameshift	SLCO1C1	NM_017435.4,NM_001145946.1,NM_001145945.1,NM_001145944.1	,,,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,,,	,,,		1,12517				SO:0001589	frameshift_variant	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20885883_20885884insG	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1233dupG	12.37:g.20885889_20885889dupG	ENSP00000266509:p.Gly410fs		Somatic				SLCO1C1_ENST00000545102.1_Frame_Shift_Ins_p.SG291fs|SLCO1C1_ENST00000545604.1_Frame_Shift_Ins_p.SG409fs|SLCO1C1_ENST00000540354.1_Frame_Shift_Ins_p.SG360fs|SLCO1C1_ENST00000266509.2_Frame_Shift_Ins_p.SG409fs	p.SG409fs			WXS	Illumina GAIIx	Phase_I	Q9NYB5	SO1C1_HUMAN			10	1595_1596	+	Esophageal squamous(101;0.149)		409					B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Frame_Shift_Ins	INS	ENST00000266509.2	37	c.1227_1228insG	CCDS8683.1																																																																																				0.381	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		7	445						7	445	---	---	---	---
ASIC1	41	broad.mit.edu	37	12	50453702	50453703	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:50453702_50453703insG	ENST00000447966.2	+	3	752_753	c.523_524insG	c.(523-525)cggfs	p.R175fs	ASIC1_ENST00000228468.4_Frame_Shift_Ins_p.R175fs	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	175					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	CTGCCACTTCCGGGGGGAGGTC	0.594																																						ENST00000228468.4																			0											c.(523-525)gggfs		acid-sensing (proton-gated) ion channel 1	Amiloride(DB00594)																																			SO:0001589	frameshift_variant	41				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50453702_50453703insG	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.529dupG	12.37:g.50453708_50453708dupG	ENSP00000400228:p.Arg175fs		Somatic				ASIC1_ENST00000447966.2_Frame_Shift_Ins_p.G175fs	p.G175fs	NM_020039.3	NP_064423.2	WXS	Illumina GAIIx	Phase_I	P78348	ACCN2_HUMAN			3	908_909	+			175					A3KN86|E5KBL7|P78349|Q96CV2	Frame_Shift_Ins	INS	ENST00000447966.2	37	c.523_524insG	CCDS44876.1																																																																																				0.594	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		14	179						14	179	---	---	---	---
ASIC1	41	broad.mit.edu	37	12	50471134	50471135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:50471134_50471135insG	ENST00000447966.2	+	4	926_927	c.697_698insG	c.(697-699)tggfs	p.W233fs	ASIC1_ENST00000228468.4_Frame_Shift_Ins_p.W233fs|ASIC1_ENST00000552438.1_Frame_Shift_Ins_p.W267fs	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	233					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	CCTGCCTGTGTGGGGGGAGACT	0.649																																						ENST00000228468.4																			0											c.(697-699)gggfs		acid-sensing (proton-gated) ion channel 1	Amiloride(DB00594)																																			SO:0001589	frameshift_variant	41				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50471134_50471135insG	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.703dupG	12.37:g.50471140_50471140dupG	ENSP00000400228:p.Trp233fs		Somatic				ASIC1_ENST00000447966.2_Frame_Shift_Ins_p.G233fs|ASIC1_ENST00000552438.1_Frame_Shift_Ins_p.G267fs	p.G233fs	NM_020039.3	NP_064423.2	WXS	Illumina GAIIx	Phase_I	P78348	ACCN2_HUMAN			4	1082_1083	+			233					A3KN86|E5KBL7|P78349|Q96CV2	Frame_Shift_Ins	INS	ENST00000447966.2	37	c.697_698insG	CCDS44876.1																																																																																				0.649	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		9	314						9	314	---	---	---	---
SPRYD3	84926	broad.mit.edu	37	12	53468917	53468917	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:53468917delC	ENST00000301463.4	-	4	419	c.333delG	c.(331-333)tggfs	p.W111fs	SPRYD3_ENST00000547837.1_Frame_Shift_Del_p.W148fs	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	111	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						AGTCAGGCAACCAGCCAGGCT	0.532																																						ENST00000301463.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(331-333)tgfs		SPRY domain containing 3							99.0	99.0	99.0					12																	53468917		2203	4300	6503	SO:0001589	frameshift_variant	84926							g.chr12:53468917delC	AK074694	CCDS8845.1	12q13.13	2006-11-29		2006-02-02		ENSG00000167778			25920	protein-coding gene	gene with protein product						14702039	Standard	NM_032840		Approved	FLJ14800	uc001sbt.2	Q8NCJ5	OTTHUMG00000170101	ENST00000301463.4:c.333delG	12.37:g.53468917delC	ENSP00000301463:p.Trp111fs		Somatic				SPRYD3_ENST00000547837.1_Frame_Shift_Del_p.W148fs	p.W111fs	NM_032840.2	NP_116229.1	WXS	Illumina GAIIx	Phase_I	Q8NCJ5	SPRY3_HUMAN			4	419	-			111			B30.2/SPRY.		B9EG99|Q96SK5	Frame_Shift_Del	DEL	ENST00000301463.4	37	c.333delG	CCDS8845.1																																																																																				0.532	SPRYD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407264.1	NM_032840		18	161						18	161	---	---	---	---
NPFF	8620	broad.mit.edu	37	12	53898183	53898184	+	IGR	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:53898183_53898184insC	ENST00000267017.3	-	0	592				TARBP2_ENST00000266987.2_Frame_Shift_Ins_p.SP142fs|TARBP2_ENST00000456234.2_Frame_Shift_Ins_p.SP121fs|TARBP2_ENST00000394357.2_Frame_Shift_Ins_p.SP121fs|TARBP2_ENST00000552857.1_Frame_Shift_Ins_p.SP51fs	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						TCCTTCAGGAGCCCCCCCATGG	0.564																																						ENST00000266987.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						c.(424-426)accfs		TAR (HIV-1) RNA binding protein 2																																				SO:0001628	intergenic_variant	6895				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding	g.chr12:53898183_53898184insC	AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"""Endogenous ligands"""	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856		12.37:g.53898190_53898190dupC			Somatic				TARBP2_ENST00000552857.1_Frame_Shift_Ins_p.T51fs|TARBP2_ENST00000456234.2_Frame_Shift_Ins_p.T121fs|TARBP2_ENST00000394357.2_Frame_Shift_Ins_p.T121fs	p.T142fs	NM_134323.1	NP_599150.1	WXS	Illumina GAIIx	Phase_I	Q15633	TRBP2_HUMAN			5	908_909	+			142					Q3SXL4	Frame_Shift_Ins	INS	ENST00000267017.3	37	c.425_426insC	CCDS8862.1																																																																																				0.564	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717		7	83						7	83	---	---	---	---
GPR84	53831	broad.mit.edu	37	12	54757553	54757554	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:54757553_54757554insC	ENST00000551809.1	-	1	717_718	c.82_83insG	c.(82-84)gtgfs	p.V28fs	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA|GPR84_ENST00000267015.3_Frame_Shift_Ins_p.V28fs			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.V28G(1)		NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						AGCCACCACCACCCCCCAGCTA	0.564																																						ENST00000551809.1																			1	Substitution - Missense(1)	p.V28G(1)	large_intestine(1)	NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						c.(82-84)ggtfs		G protein-coupled receptor 84																																				SO:0001589	frameshift_variant	53831					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:54757553_54757554insC	AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.83dupG	12.37:g.54757559_54757559dupC	ENSP00000450310:p.Val28fs		Somatic				RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Frame_Shift_Ins_p.G28fs	p.G28fs			WXS	Illumina GAIIx	Phase_I	Q9NQS5	GPR84_HUMAN			1	717_718	-			28					B6V9G7	Frame_Shift_Ins	INS	ENST00000551809.1	37	c.82_83insG	CCDS8878.1																																																																																				0.564	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1			9	214						9	214	---	---	---	---
ITGA5	3678	broad.mit.edu	37	12	54801454	54801454	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:54801454delT	ENST00000293379.4	-	9	1146	c.885delA	c.(883-885)aaafs	p.K295fs	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	295					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TGAGGTTCCCTTTGGGCACAC	0.522																																						ENST00000293379.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						c.(883-885)aafs		integrin, alpha 5 (fibronectin receptor, alpha polypeptide)							98.0	76.0	83.0					12																	54801454		2203	4300	6503	SO:0001589	frameshift_variant	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54801454delT		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.885delA	12.37:g.54801454delT	ENSP00000293379:p.Lys295fs		Somatic				RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	p.K295fs	NM_002205.2	NP_002196.2	WXS	Illumina GAIIx	Phase_I	P08648	ITA5_HUMAN			9	1146	-			295					Q96HA5	Frame_Shift_Del	DEL	ENST00000293379.4	37	c.885delA	CCDS8880.1																																																																																				0.522	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			11	167						11	167	---	---	---	---
PDE1B	5153	broad.mit.edu	37	12	54971059	54971060	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:54971059_54971060insC	ENST00000243052.3	+	15	1994_1995	c.1558_1559insC	c.(1558-1560)gccfs	p.A520fs	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.A500fs|PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.A479fs|PPP1R1A_ENST00000547431.1_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	520					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TGAAGAAGAGGCCCCCCCATCC	0.559																																						ENST00000243052.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						c.(1558-1560)cccfs		phosphodiesterase 1B, calmodulin-dependent																																				SO:0001589	frameshift_variant	5153				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54971059_54971060insC	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.1565dupC	12.37:g.54971066_54971066dupC	ENSP00000243052:p.Ala520fs		Somatic				PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.P479fs|PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.P500fs	p.P520fs	NM_000924.3	NP_000915.1	WXS	Illumina GAIIx	Phase_I	Q01064	PDE1B_HUMAN			15	1994_1995	+			520					Q92825|Q96KP3	Frame_Shift_Ins	INS	ENST00000243052.3	37	c.1558_1559insC	CCDS8882.1																																																																																				0.559	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			18	596						18	596	---	---	---	---
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C	rs201995432		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:55421127_55421128insC	ENST00000242994.3	+	2	1282_1283	c.904_905insC	c.(904-906)accfs	p.T302fs		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	302					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCAGGCTGGTACCCCCCGTTAT	0.465																																						ENST00000242994.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(904-906)cccfs		neuronal differentiation 4																																				SO:0001589	frameshift_variant	58158				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:55421127_55421128insC	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.910dupC	12.37:g.55421133_55421133dupC	ENSP00000242994:p.Thr302fs		Somatic					p.P302fs	NM_021191.2	NP_067014.2	WXS	Illumina GAIIx	Phase_I	Q9HD90	NDF4_HUMAN			2	1282_1283	+			302					B2RAC9	Frame_Shift_Ins	INS	ENST00000242994.3	37	c.904_905insC	CCDS8886.1																																																																																				0.465	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1			10	1126						10	1126	---	---	---	---
ESYT1	23344	broad.mit.edu	37	12	56531341	56531342	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:56531341_56531342insG	ENST00000394048.5	+	18	2261_2262	c.1997_1998insG	c.(1996-2001)ttggggfs	p.LG666fs	ESYT1_ENST00000267113.4_Frame_Shift_Ins_p.LG676fs|ESYT1_ENST00000541590.1_Frame_Shift_Ins_p.LG676fs	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	666	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GACCGTTTCTTGGGGGGACTGG	0.55																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(1996-1998)tggfs		extended synaptotagmin-like protein 1																																				SO:0001589	frameshift_variant	23344					integral to membrane		g.chr12:56531341_56531342insG	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.2003dupG	12.37:g.56531347_56531347dupG	ENSP00000377612:p.Leu666fs		Somatic				ESYT1_ENST00000267113.4_Frame_Shift_Ins_p.W676fs|ESYT1_ENST00000541590.1_Frame_Shift_Ins_p.W676fs	p.W666fs	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	WXS	Illumina GAIIx	Phase_I	Q9BSJ8	ESYT1_HUMAN			18	2261_2262	+			666			C2 3.		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Frame_Shift_Ins	INS	ENST00000394048.5	37	c.1997_1998insG	CCDS8904.1																																																																																				0.550	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		16	1310						16	1310	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56558259	56558260	+	Frame_Shift_Ins	INS	-	-	G	rs528782426		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:56558259_56558260insG	ENST00000267064.4	-	27	3481_3482	c.3395_3396insC	c.(3394-3396)ccafs	p.P1132fs	SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.P1163fs|SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000347471.4_Intron|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1132	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)			GCAGGTTAGGTGGGGGGAGAGT	0.614																																						ENST00000550164.1																			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.(3487-3489)cccfs		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.chr12:56558259_56558260insG	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.3396dupC	12.37:g.56558265_56558265dupG	ENSP00000267064:p.Pro1132fs		Somatic				RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.P1132fs|SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000394023.3_Intron	p.P1163fs			WXS	Illumina GAIIx	Phase_I	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		28	3502_3503	-			1132			Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Frame_Shift_Ins	INS	ENST00000267064.4	37	c.3488_3489insC	CCDS8907.1																																																																																				0.614	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			9	629						9	629	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56575340	56575341	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:56575340_56575341insC	ENST00000267064.4	-	10	967_968	c.881_882insG	c.(880-882)ggafs	p.G294fs	SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.G294fs|SMARCC2_ENST00000394023.3_Frame_Shift_Ins_p.G294fs|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.G294fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550859.1_5'Flank	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	294					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)			TCTTATAGTTTCCCCCCTTCTT	0.515																																						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.(880-882)gaafs		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.chr12:56575340_56575341insC	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.882dupG	12.37:g.56575346_56575346dupC	ENSP00000267064:p.Gly294fs		Somatic				RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.E294fs|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.E294fs|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.E294fs	p.E294fs	NM_001130420.1	NP_001123892.1	WXS	Illumina GAIIx	Phase_I	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		10	986_987	-			294					F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Frame_Shift_Ins	INS	ENST00000267064.4	37	c.881_882insG	CCDS8907.1																																																																																				0.515	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			13	648						13	648	---	---	---	---
STAT2	6773	broad.mit.edu	37	12	56742816	56742817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:56742816_56742817insG	ENST00000314128.4	-	17	1490_1491	c.1467_1468insC	c.(1465-1470)cccaagfs	p.K490fs	STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000557235.1_Frame_Shift_Ins_p.K486fs|STAT2_ENST00000556539.1_5'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	490					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGGGGCCTTGGGGGGGTTGG	0.594																																						ENST00000314128.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.(1465-1470)ccaggcfs		signal transducer and activator of transcription 2, 113kDa																																				SO:0001589	frameshift_variant	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56742816_56742817insG	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1468dupC	12.37:g.56742823_56742823dupG	ENSP00000315768:p.Lys490fs		Somatic				STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs|STAT2_ENST00000556539.1_5'UTR	p.G490fs			WXS	Illumina GAIIx	Phase_I	P52630	STAT2_HUMAN			17	1490_1491	-			490					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Frame_Shift_Ins	INS	ENST00000314128.4	37	c.1467_1468insC	CCDS8917.1																																																																																				0.594	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		19	281						19	281	---	---	---	---
GLS2	27165	broad.mit.edu	37	12	56867067	56867067	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:56867067delT	ENST00000311966.4	-	14	1672	c.1394delA	c.(1393-1395)aacfs	p.N465fs	GLS2_ENST00000476991.1_5'Flank	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	465					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)	GTGCCTCAGGTTGTCATAGTT	0.423																																						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.(1393-1395)acfs		glutaminase 2 (liver, mitochondrial)	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						100.0	99.0	99.0					12																	56867067		2203	4300	6503	SO:0001589	frameshift_variant	27165				cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding	g.chr12:56867067delT		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.1394delA	12.37:g.56867067delT	ENSP00000310447:p.Asn465fs		Somatic					p.N465fs	NM_013267.2	NP_037399.2	WXS	Illumina GAIIx	Phase_I	Q9UI32	GLSL_HUMAN			14	1672	-			465					B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Frame_Shift_Del	DEL	ENST00000311966.4	37	c.1394delA	CCDS8921.1																																																																																				0.423	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277113.1	NM_013267		19	384						19	384	---	---	---	---
GLI1	2735	broad.mit.edu	37	12	57860074	57860075	+	Frame_Shift_Ins	INS	-	-	G	rs368789621		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:57860074_57860075insG	ENST00000228682.2	+	8	905_906	c.814_815insG	c.(814-816)tggfs	p.W272fs	GLI1_ENST00000543426.1_Frame_Shift_Ins_p.W144fs|GLI1_ENST00000546141.1_Frame_Shift_Ins_p.W231fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	272					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTGC	0.599																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(814-816)gggfs		GLI family zinc finger 1																																				SO:0001589	frameshift_variant	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57860074_57860075insG		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.821dupG	12.37:g.57860081_57860081dupG	ENSP00000228682:p.Trp272fs		Somatic				GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs|GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs	p.G272fs	NM_005269.2	NP_005260.1	WXS	Illumina GAIIx	Phase_I	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		8	905_906	+			272					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Frame_Shift_Ins	INS	ENST00000228682.2	37	c.814_815insG	CCDS8940.1																																																																																				0.599	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		58	762						58	762	---	---	---	---
GLI1	2735	broad.mit.edu	37	12	57865760	57865761	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:57865760_57865761insC	ENST00000228682.2	+	12	3328_3329	c.3237_3238insC	c.(3238-3240)cccfs	p.P1080fs	GLI1_ENST00000543426.1_Frame_Shift_Ins_p.P952fs|GLI1_ENST00000546141.1_Frame_Shift_Ins_p.P1039fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	1080					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CTCCCTCTGGGCCCCCCAACAT	0.554																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(3235-3240)ggccccfs		GLI family zinc finger 1																																				SO:0001589	frameshift_variant	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57865760_57865761insC		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.3243dupC	12.37:g.57865766_57865766dupC	ENSP00000228682:p.Pro1080fs		Somatic				GLI1_ENST00000543426.1_Frame_Shift_Ins_p.GP951fs|GLI1_ENST00000546141.1_Frame_Shift_Ins_p.GP1038fs	p.GP1079fs	NM_005269.2	NP_005260.1	WXS	Illumina GAIIx	Phase_I	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		12	3328_3329	+			1079					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Frame_Shift_Ins	INS	ENST00000228682.2	37	c.3237_3238insC	CCDS8940.1																																																																																				0.554	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		12	852						12	852	---	---	---	---
DCTN2	10540	broad.mit.edu	37	12	57927805	57927806	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:57927805_57927806insG	ENST00000548249.1	-	7	866_867	c.599_600insC	c.(598-600)ccafs	p.P200fs	DCTN2_ENST00000551400.1_5'Flank|DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.P177fs|DCTN2_ENST00000543672.1_Frame_Shift_Ins_p.P205fs|DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.P205fs	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	200					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|vesicle (GO:0031982)	motor activity (GO:0003774)|spectrin binding (GO:0030507)			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						GGCTGCTATCTGGGGGGGTCCC	0.5																																						ENST00000548249.1																			0				endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						c.(598-600)cgafs		dynactin 2 (p50)																																				SO:0001589	frameshift_variant	10540				cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding	g.chr12:57927805_57927806insG	U50733	CCDS44930.1, CCDS58245.1, CCDS73489.1	12q13.3	2008-05-14				ENSG00000175203			2712	protein-coding gene	gene with protein product		607376				8647893	Standard	NM_001261412		Approved	RBP50, DCTN-50	uc001som.2	Q13561	OTTHUMG00000170124	ENST00000548249.1:c.600dupC	12.37:g.57927812_57927812dupG	ENSP00000447824:p.Pro200fs		Somatic				DCTN2_ENST00000543672.1_Frame_Shift_Ins_p.R205fs|DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.R177fs|DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.R205fs	p.R200fs	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	WXS	Illumina GAIIx	Phase_I	Q13561	DCTN2_HUMAN			7	866_867	-			200					B2RBK5|Q86YN2|Q9BW17	Frame_Shift_Ins	INS	ENST00000548249.1	37	c.599_600insC	CCDS58245.1																																																																																				0.500	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407393.2	NM_006400		18	344						18	344	---	---	---	---
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C	rs577942747		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:69233089_69233090insC	ENST00000350057.5	+	9	861_862	c.861_862insC	c.(862-864)cccfs	p.P288fs	MDM2_ENST00000299252.4_Frame_Shift_Ins_p.P143fs|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.P40fs|MDM2_ENST00000462284.1_Frame_Shift_Ins_p.P319fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.P264fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.P87fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.P118fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.P40fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000517852.1_Intron|RP11-611O2.5_ENST00000553141.1_RNA|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.P92fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.P143fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.P65fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.P258fs|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.P118fs			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	313	ARF-binding.|Asp/Glu-rich (acidic).|Interaction with MTBP. {ECO:0000250}.|Necessary for interaction with USP2.|Region II.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""																																	ENST00000462284.1				Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"""M, O, E, L"""			"""sarcoma, glioma, colorectal, other"""		0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19						c.(952-957)aaccccfs		MDM2 oncogene, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	4193				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:69233089_69233090insC		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.868dupC	12.37:g.69233096_69233096dupC	ENSP00000266624:p.Pro288fs		Somatic				MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs	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		13	272						13	272	---	---	---	---
BEST3	144453	broad.mit.edu	37	12	70049361	70049362	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:70049361_70049362insG	ENST00000330891.5	-	10	1558_1559	c.1332_1333insC	c.(1330-1335)cccaggfs	p.R445fs	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Frame_Shift_Ins_p.R339fs|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.R232fs	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	445					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GGTGAGGCCCTGGGGGGGTTTC	0.594																																						ENST00000330891.5																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(1330-1335)ccgggcfs		bestrophin 3																																				SO:0001589	frameshift_variant	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70049361_70049362insG	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1333dupC	12.37:g.70049368_70049368dupG	ENSP00000332413:p.Arg445fs		Somatic				BEST3_ENST00000553096.1_Frame_Shift_Ins_p.PG338fs|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.PG231fs|BEST3_ENST00000331471.4_Intron	p.PG444fs	NM_032735.2	NP_116124.2	WXS	Illumina GAIIx	Phase_I	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	1558_1559	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		444					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Frame_Shift_Ins	INS	ENST00000330891.5	37	c.1332_1333insC	CCDS8992.2																																																																																				0.594	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		10	190						10	190	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1197)cgccccfs	p.RP398fs	NAV3_ENST00000536525.2_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.RP398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.RP398fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCTTTACGCCCCCCGCAGC	0.495										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1192-1194)cccfs		neuron navigator 3				2,3746		0,2,1872						4.8	1.0			90	1,7917		0,1,3958	no	frameshift	NAV3	NM_014903.4		0,3,5830	A1A1,A1R,RR		0.0126,0.0534,0.0257				3,11663				SO:0001589	frameshift_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400511_78400512insC	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1199dupC	12.37:g.78400517_78400517dupC	ENSP00000381007:p.Arg398fs	HNSCC(70;0.22)	Somatic				NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs	p.P398fs			WXS	Illumina GAIIx	Phase_I	Q8IVL0	NAV3_HUMAN			8	1366_1367	+			398					Q8NFW7|Q9Y2E7	Frame_Shift_Ins	INS	ENST00000397909.2	37	c.1193_1194insC																																																																																					0.495	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		31	796						31	796	---	---	---	---
RFX4	5992	broad.mit.edu	37	12	107126021	107126022	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:107126021_107126022delAG	ENST00000392842.1	+	14	1879_1880	c.1465_1466delAG	c.(1465-1467)agcfs	p.S489fs	RFX4_ENST00000229387.5_Frame_Shift_Del_p.S395fs|RP11-482D24.3_ENST00000552415.1_RNA|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Frame_Shift_Del_p.S498fs	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	489					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GGGAGAAGGAAGCACTGGTAAG	0.431																																						ENST00000392842.1																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(1465-1467)cfs		regulatory factor X, 4 (influences HLA class II expression)																																				SO:0001589	frameshift_variant	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107126021_107126022delAG	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.1465_1466delAG	12.37:g.107126021_107126022delAG	ENSP00000376585:p.Ser489fs		Somatic				RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Frame_Shift_Del_p.S395fs|RFX4_ENST00000357881.4_Frame_Shift_Del_p.S498fs|RP11-482D24.3_ENST00000552415.1_RNA	p.S489fs	NM_213594.2	NP_998759.1	WXS	Illumina GAIIx	Phase_I	Q33E94	RFX4_HUMAN			14	1879_1880	+			489					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Frame_Shift_Del	DEL	ENST00000392842.1	37	c.1465_1466delAG	CCDS9106.1																																																																																				0.431	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		40	453						40	453	---	---	---	---
UBE3B	89910	broad.mit.edu	37	12	109927823	109927824	+	Intron	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:109927823_109927824insC	ENST00000342494.3	+	8	1225				UBE3B_ENST00000537063.1_Frame_Shift_Ins_p.CP215fs|UBE3B_ENST00000340074.5_Intron|UBE3B_ENST00000540230.1_Intron|UBE3B_ENST00000280774.5_Intron|UBE3B_ENST00000536398.1_Intron|UBE3B_ENST00000434735.2_Intron	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TGTGACTCCTGCCCCCCAGTGT	0.465																																						ENST00000537063.1																			0				NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						c.(643-645)tccfs		ubiquitin protein ligase E3B																																				SO:0001627	intron_variant	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109927823_109927824insC	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.630+14->C	12.37:g.109927829_109927829dupC			Somatic				UBE3B_ENST00000540230.1_Intron|UBE3B_ENST00000340074.5_Intron|UBE3B_ENST00000434735.2_Intron|UBE3B_ENST00000342494.3_Intron|UBE3B_ENST00000536398.1_Intron|UBE3B_ENST00000280774.5_Intron	p.S215fs			WXS	Illumina GAIIx	Phase_I	Q7Z3V4	UBE3B_HUMAN			8	881_882	+			0					A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Frame_Shift_Ins	INS	ENST00000342494.3	37	c.644_645insC	CCDS9129.1																																																																																				0.465	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		9	318						9	318	---	---	---	---
HVCN1	84329	broad.mit.edu	37	12	111099018	111099019	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:111099018_111099019insG	ENST00000356742.5	-	3	1009_1010	c.256_257insC	c.(256-258)cttfs	p.L86fs	HVCN1_ENST00000439744.2_Frame_Shift_Ins_p.L66fs|HVCN1_ENST00000242607.8_Frame_Shift_Ins_p.L86fs|HVCN1_ENST00000548312.1_Frame_Shift_Ins_p.L86fs			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	86					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						CCTGAAGTCAAGGGGGGCCCTG	0.658																																						ENST00000356742.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						c.(256-258)tgafs		hydrogen voltage-gated channel 1																																				SO:0001589	frameshift_variant	84329				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	g.chr12:111099018_111099019insG	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"""Voltage-gated ion channels / Hydrogen voltage-gated channel"""	28240	protein-coding gene	gene with protein product	"""voltage sensor domain-only protein"""	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.257dupC	12.37:g.111099024_111099024dupG	ENSP00000349181:p.Leu86fs		Somatic				HVCN1_ENST00000548312.1_Frame_Shift_Ins_p.*86fs|HVCN1_ENST00000439744.2_Frame_Shift_Ins_p.*66fs|HVCN1_ENST00000242607.8_Frame_Shift_Ins_p.*86fs	p.*86fs			WXS	Illumina GAIIx	Phase_I	Q96D96	HVCN1_HUMAN			3	1009_1010	-			86					A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Frame_Shift_Ins	INS	ENST00000356742.5	37	c.256_257insC	CCDS31900.1																																																																																				0.658	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		7	976						7	976	---	---	---	---
BRAP	8315	broad.mit.edu	37	12	112082051	112082052	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:112082051_112082052insC	ENST00000327551.6	-	12	1780_1781	c.1640_1641insG	c.(1639-1641)ggcfs	p.G547fs	BRAP_ENST00000419234.4_Frame_Shift_Ins_p.G577fs|BRAP_ENST00000539060.1_Frame_Shift_Ins_p.G398fs			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						ACTTCCCACTGCCCCCCGAAGA	0.604																																					Pancreas(146;846 1904 7830 25130 26065)	ENST00000419234.4																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(1729-1731)gagfs		BRCA1 associated protein																																				SO:0001589	frameshift_variant	8315				MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:112082051_112082052insC	AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"""RING-type (C3HC4) zinc fingers"""	1099	protein-coding gene	gene with protein product	"""impedes mitogenic signal propagation"", ""galectin-2-binding protein"""	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.1641dupG	12.37:g.112082057_112082057dupC	ENSP00000330813:p.Gly547fs		Somatic				BRAP_ENST00000539060.1_Frame_Shift_Ins_p.E398fs|BRAP_ENST00000327551.6_Frame_Shift_Ins_p.E547fs	p.E577fs	NM_006768.3	NP_006759.3	WXS	Illumina GAIIx	Phase_I	Q7Z569	BRAP_HUMAN			12	1923_1924	-			577					B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Frame_Shift_Ins	INS	ENST00000327551.6	37	c.1730_1731insG																																																																																					0.604	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404994.2			9	243						9	243	---	---	---	---
ALDH2	217	broad.mit.edu	37	12	112229926	112229927	+	Frame_Shift_Ins	INS	-	-	G	rs554937672		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:112229926_112229927insG	ENST00000261733.2	+	8	918_919	c.857_858insG	c.(856-861)ctggggfs	p.LG286fs	ALDH2_ENST00000416293.3_Frame_Shift_Ins_p.LG239fs	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	286					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)	p.K289fs*45(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	ACCTTGGAGCTGGGGGGGAAGA	0.574			T	HMGA2	leiomyoma																																	ENST00000261733.2				Dom	yes		12	12q24.2	217	T	aldehyde dehydrogenase 2 family (mitochondrial)			M	HMGA2		leiomyoma		2	Insertion - Frameshift(2)	p.K289fs*45(2)	ovary(2)	NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22						c.(856-858)cggfs		aldehyde dehydrogenase 2 family (mitochondrial)	Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)		,	7,4257		0,7,2125					,	5.4	1.0			54	5,8249		0,5,4122	no	frameshift,frameshift	ALDH2	NM_001204889.1,NM_000690.3	,	0,12,6247	A1A1,A1R,RR		0.0606,0.1642,0.0959	,	,		12,12506				SO:0001589	frameshift_variant	217				carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr12:112229926_112229927insG	M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"""Aldehyde dehydrogenases"""	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.864dupG	12.37:g.112229933_112229933dupG	ENSP00000261733:p.Leu286fs		Somatic				ALDH2_ENST00000416293.3_Frame_Shift_Ins_p.R239fs	p.R286fs	NM_000690.3	NP_000681.2	WXS	Illumina GAIIx	Phase_I	P05091	ALDH2_HUMAN			8	918_919	+			286					B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Frame_Shift_Ins	INS	ENST00000261733.2	37	c.857_858insG	CCDS9155.1																																																																																				0.574	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1	NM_000690		34	615						34	615	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112690348	112690349	+	Frame_Shift_Ins	INS	-	-	G	rs528866197	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:112690348_112690349insG	ENST00000430131.2	-	22	3310_3311	c.2165_2166insC	c.(2164-2166)cctfs	p.P722fs	HECTD4_ENST00000377560.5_Frame_Shift_Ins_p.P972fs|HECTD4_ENST00000550722.1_Intron			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	722					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)										AATTTAAGGAAGGGGGGGAAAT	0.396													?|GGGGGGG|GGGGGGGG|unsure	10	0.00199681	0.0076	0.0	5008	,	,		19795	0.0		0.0	False		,,,				2504	0.0					ENST00000377560.5																			0											c.(2914-2916)ctcfs		HECT domain containing E3 ubiquitin protein ligase 4				25,4239		0,25,2107						3.9	0.9			67	4,8250		0,4,4123	no	frameshift	C12orf51	NM_001109662.2		0,29,6230	A1A1,A1R,RR		0.0485,0.5863,0.2317				29,12489				SO:0001589	frameshift_variant	283450							g.chr12:112690348_112690349insG	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.2166dupC	12.37:g.112690355_112690355dupG	ENSP00000404379:p.Pro722fs		Somatic				HECTD4_ENST00000550722.1_Intron|HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.L722fs	p.L972fs			WXS	Illumina GAIIx	Phase_I					22	3310_3311	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Frame_Shift_Ins	INS	ENST00000430131.2	37	c.2915_2916insC																																																																																					0.396	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		11	189						11	189	---	---	---	---
SLC8B1	80024	broad.mit.edu	37	12	113758305	113758306	+	Splice_Site	INS	-	-	G	rs369159999		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:113758305_113758306insG	ENST00000552014.1	-	8	1042		c.e8-2		SLC8B1_ENST00000546737.1_Intron|SLC8B1_ENST00000202831.3_Splice_Site|SLC8B1_ENST00000553238.1_Intron			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1						cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										CGCCAGCGCCTGGGGGGAGGAG	0.644																																						ENST00000552014.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						c.e8-2						0,4260		0,0,2130						3.3	0.4		dbSNP_126	108	1,8251		0,1,4125	no	splice-3	SLC24A6	NM_024959.2		0,1,6255	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12511				SO:0001630	splice_region_variant	80024				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113758305_113758306insG	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.527-2->C	12.37:g.113758311_113758311dupG			Somatic				SLC24A6_ENST00000546737.1_Intron|SLC24A6_ENST00000553238.1_Intron|SLC24A6_ENST00000202831.3_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q6J4K2	NCKX6_HUMAN			8	1042	-								A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Splice_Site	INS	ENST00000552014.1	37		CCDS31909.1																																																																																				0.644	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959	Intron	15	676						15	676	---	---	---	---
KSR2	283455	broad.mit.edu	37	12	117977604	117977605	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:117977604_117977605insG	ENST00000339824.5	-	10	2333_2334	c.1606_1607insC	c.(1606-1608)ctcfs	p.L536fs	KSR2_ENST00000425217.1_Frame_Shift_Ins_p.L507fs|KSR2_ENST00000302438.5_Frame_Shift_Ins_p.L233fs|KSR2_ENST00000545002.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	536	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTAGGAGGGAGGGGGGGTGCT	0.634																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1519-1521)cccfs		kinase suppressor of ras 2																																				SO:0001589	frameshift_variant	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117977604_117977605insG	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1607dupC	12.37:g.117977611_117977611dupG	ENSP00000339952:p.Leu536fs		Somatic				KSR2_ENST00000302438.5_Frame_Shift_Ins_p.P233fs|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Frame_Shift_Ins_p.P536fs	p.P507fs	NM_173598.4	NP_775869.3	WXS	Illumina GAIIx	Phase_I	Q6VAB6	KSR2_HUMAN			10	1573_1574	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		536					A0PJT2|Q3B828|Q8N775	Frame_Shift_Ins	INS	ENST00000339824.5	37	c.1519_1520insC																																																																																					0.634	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		7	248						7	248	---	---	---	---
MSI1	4440	broad.mit.edu	37	12	120800902	120800903	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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		18	221						18	221	---	---	---	---
LRRC43	254050	broad.mit.edu	37	12	122670832	122670833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:122670832_122670833insC	ENST00000339777.4	+	3	535_536	c.507_508insC	c.(508-510)cccfs	p.P170fs	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	170										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CCACCAATCTGCCCCCCACACT	0.569																																						ENST00000339777.4																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(505-510)ctccccfs		leucine rich repeat containing 43																																				SO:0001589	frameshift_variant	254050							g.chr12:122670832_122670833insC	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.513dupC	12.37:g.122670838_122670838dupC	ENSP00000344233:p.Pro170fs		Somatic				LRRC43_ENST00000425921.1_5'UTR	p.LP169fs	NM_152759.4	NP_689972.3	WXS	Illumina GAIIx	Phase_I	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	3	535_536	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		169					Q6ZVT9	Frame_Shift_Ins	INS	ENST00000339777.4	37	c.507_508insC	CCDS45001.1																																																																																				0.569	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		7	132						7	132	---	---	---	---
VPS33A	65082	broad.mit.edu	37	12	122720396	122720397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:122720396_122720397insC	ENST00000267199.4	-	11	1488_1489	c.1376_1377insG	c.(1375-1377)ggcfs	p.G459fs	RP11-512M8.5_ENST00000535844.1_Frame_Shift_Ins_p.G420fs	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	459					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		AATTGTTTCTGCCCCCCGTCTG	0.495																																						ENST00000267199.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28						c.(1375-1377)gagfs		vacuolar protein sorting 33 homolog A (S. cerevisiae)																																				SO:0001589	frameshift_variant	65082				lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr12:122720396_122720397insC	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"""vacuolar protein sorting 33A (yeast)"""			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.1377dupG	12.37:g.122720402_122720402dupC	ENSP00000267199:p.Gly459fs		Somatic				RP11-512M8.5_ENST00000535844.1_Frame_Shift_Ins_p.E420fs	p.E459fs	NM_022916.4	NP_075067.2	WXS	Illumina GAIIx	Phase_I	Q96AX1	VP33A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)	11	1488_1489	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		459					Q547V4|Q9H5Q0	Frame_Shift_Ins	INS	ENST00000267199.4	37	c.1376_1377insG	CCDS9231.1																																																																																				0.495	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2			25	893						25	893	---	---	---	---
CCDC62	84660	broad.mit.edu	37	12	123276590	123276591	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:123276590_123276591insA	ENST00000253079.6	+	6	1038_1039	c.694_695insA	c.(694-696)gaafs	p.E232fs	CCDC62_ENST00000537566.1_Intron|CCDC62_ENST00000392441.4_Frame_Shift_Ins_p.E232fs|CCDC62_ENST00000392440.2_Intron	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	232					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AAAGACGACAGAAAATAATGAG	0.381																																						ENST00000253079.6																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(694-696)aaafs		coiled-coil domain containing 62																																				SO:0001589	frameshift_variant	84660					cytoplasm|nucleus		g.chr12:123276590_123276591insA		CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.698dupA	12.37:g.123276594_123276594dupA	ENSP00000253079:p.Glu232fs		Somatic				CCDC62_ENST00000392440.2_Intron|CCDC62_ENST00000537566.1_Intron|CCDC62_ENST00000392441.4_Frame_Shift_Ins_p.K232fs	p.K232fs	NM_201435.4	NP_958843.2	WXS	Illumina GAIIx	Phase_I	Q6P9F0	CCD62_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)	6	1038_1039	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		232					A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Frame_Shift_Ins	INS	ENST00000253079.6	37	c.694_695insA	CCDS9238.1																																																																																				0.381	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573		9	998						9	998	---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124885064	124885065	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:124885064_124885065insG	ENST00000405201.1	-	15	1795_1796	c.1795_1796insC	c.(1795-1797)cagfs	p.Q599fs	NCOR2_ENST00000404621.1_Frame_Shift_Ins_p.Q598fs|NCOR2_ENST00000429285.2_Frame_Shift_Ins_p.Q598fs|NCOR2_ENST00000397355.1_Frame_Shift_Ins_p.Q599fs|NCOR2_ENST00000404121.2_Frame_Shift_Ins_p.Q169fs|NCOR2_ENST00000356219.3_Frame_Shift_Ins_p.Q599fs			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	599					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGCGCTCTGCTGGGGGGTGATG	0.624																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1795-1797)gcafs		nuclear receptor corepressor 2																																				SO:0001589	frameshift_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124885064_124885065insG	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1796dupC	12.37:g.124885070_124885070dupG	ENSP00000384018:p.Gln599fs		Somatic				NCOR2_ENST00000397355.1_Frame_Shift_Ins_p.A599fs|NCOR2_ENST00000404621.1_Frame_Shift_Ins_p.A598fs|NCOR2_ENST00000404121.2_Frame_Shift_Ins_p.A169fs|NCOR2_ENST00000429285.2_Frame_Shift_Ins_p.A598fs|NCOR2_ENST00000405201.1_Frame_Shift_Ins_p.A599fs	p.A599fs	NM_006312.5	NP_006303.4	WXS	Illumina GAIIx	Phase_I	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	16	1950_1951	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		599					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Frame_Shift_Ins	INS	ENST00000405201.1	37	c.1795_1796insC	CCDS41858.2																																																																																				0.624	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		7	401						7	401	---	---	---	---
PXMP2	5827	broad.mit.edu	37	12	133277869	133277870	+	Frame_Shift_Ins	INS	-	-	G	rs529562240|rs141115887	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr12:133277869_133277870insG	ENST00000317479.3	+	4	498_499	c.433_434insG	c.(433-435)aggfs	p.R145fs	RP13-672B3.2_ENST00000537262.1_Frame_Shift_Ins_p.EG16fs|PXMP2_ENST00000545677.1_Frame_Shift_Ins_p.EG16fs|PXMP2_ENST00000543589.1_Intron|PXMP2_ENST00000539093.1_Frame_Shift_Ins_p.EG16fs|PXMP2_ENST00000428960.2_Frame_Shift_Ins_p.R52fs	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	145						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|protein complex (GO:0043234)				large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		CGCCAAGATGAGGGGGGGCTTC	0.614													GGGGGGG|GGGGGGG|GGGGGGGG|insertion	23	0.00459265	0.0	0.0029	5008	,	,		16275	0.0		0.004	False		,,,				2504	0.0174					ENST00000545677.1																			0				large_intestine(1)|liver(2)|lung(1)	4						c.(46-48)gggfs		peroxisomal membrane protein 2, 22kDa				4,4258		0,4,2127						2.8	0.0			75	23,8231		0,23,4104	no	frameshift	PXMP2	NM_018663.1		0,27,6231	A1A1,A1R,RR		0.2787,0.0939,0.2157				27,12489				SO:0001589	frameshift_variant	5827					integral to membrane|peroxisomal membrane	protein binding	g.chr12:133277869_133277870insG		CCDS9279.1	12q24	2010-08-18	2002-08-29		ENSG00000176894	ENSG00000176894			9716	protein-coding gene	gene with protein product			"""peroxisomal membrane protein 2 (22kD)"""			11590176	Standard	NM_018663		Approved	PMP22	uc001ukt.3	Q9NR77	OTTHUMG00000168019	ENST00000317479.3:c.440dupG	12.37:g.133277876_133277876dupG	ENSP00000321271:p.Arg145fs		Somatic				PXMP2_ENST00000428960.2_Frame_Shift_Ins_p.G52fs|RP13-672B3.2_ENST00000537262.1_Frame_Shift_Ins_p.G16fs|PXMP2_ENST00000539093.1_Frame_Shift_Ins_p.G16fs|PXMP2_ENST00000543589.1_Intron|PXMP2_ENST00000317479.3_Frame_Shift_Ins_p.G145fs	p.G16fs			WXS	Illumina GAIIx	Phase_I	Q9NR77	PXMP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)	3	250_251	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		0						Frame_Shift_Ins	INS	ENST00000317479.3	37	c.47_48insG	CCDS9279.1																																																																																				0.614	PXMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397553.1	NM_018663		11	223						11	223	---	---	---	---
MRPS31	10240	broad.mit.edu	37	13	41340958	41340959	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr13:41340958_41340959insG	ENST00000323563.6	-	2	399_400	c.363_364insC	c.(361-366)cccaaafs	p.K122fs		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	122						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GGTCTTCTTTTGGGGGGCTTTG	0.366																																						ENST00000323563.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13						c.(361-366)ccaaagfs		mitochondrial ribosomal protein S31																																				SO:0001589	frameshift_variant	10240					mitochondrion|ribosome	protein domain specific binding	g.chr13:41340958_41340959insG	Z68747	CCDS9372.1	13q14.11	2012-09-13			ENSG00000102738	ENSG00000102738		"""Mitochondrial ribosomal proteins / small subunits"""	16632	protein-coding gene	gene with protein product		611992				11279123, 8567980	Standard	NM_005830		Approved	IMOGN38	uc001uxm.4	Q92665	OTTHUMG00000016777	ENST00000323563.6:c.364dupC	13.37:g.41340964_41340964dupG	ENSP00000315397:p.Lys122fs		Somatic					p.PK121fs	NM_005830.3	NP_005821.2	WXS	Illumina GAIIx	Phase_I	Q92665	RT31_HUMAN		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)	2	399_400	-		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	121					B2RCS3|Q5VYC8|Q8WTV8	Frame_Shift_Ins	INS	ENST00000323563.6	37	c.363_364insC	CCDS9372.1																																																																																				0.366	MRPS31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044640.2			8	190						8	190	---	---	---	---
OR4Q3	441669	broad.mit.edu	37	14	20215682	20215683	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:20215682_20215683insT	ENST00000331723.1	+	1	96_97	c.96_97insT	c.(97-99)tttfs	p.F33fs		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TACTATTTTTGTTTTTTTACAT	0.381																																						ENST00000331723.1																			0				NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47						c.(94-99)ttttttfs		olfactory receptor, family 4, subfamily Q, member 3				1,4263		0,1,2131						0.1	0.3			166	1,8253		0,1,4126	no	frameshift	OR4Q3	NM_172194.1		0,2,6257	A1A1,A1R,RR		0.0121,0.0235,0.016				2,12516				SO:0001589	frameshift_variant	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20215682_20215683insT	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.103dupT	14.37:g.20215689_20215689dupT	ENSP00000330049:p.Phe33fs		Somatic					p.FF32fs	NM_172194.1	NP_751944.1	WXS	Illumina GAIIx	Phase_I	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	96_97	+	all_cancers(95;0.00108)		32					Q6IEX4	Frame_Shift_Ins	INS	ENST00000331723.1	37	c.96_97insT	CCDS32020.1																																																																																				0.381	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			8	363						8	363	---	---	---	---
OR4M1	441670	broad.mit.edu	37	14	20248930	20248931	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:20248930_20248931insG	ENST00000315957.4	+	1	530_531	c.449_450insG	c.(448-453)atggggfs	p.MG150fs		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTCTCCTGGATGGGGGGCTTCA	0.505																																						ENST00000315957.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42						c.(448-450)aggfs		olfactory receptor, family 4, subfamily M, member 1																																				SO:0001589	frameshift_variant	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248930_20248931insG		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.455dupG	14.37:g.20248936_20248936dupG	ENSP00000319654:p.Met150fs		Somatic					p.R150fs	NM_001005500.1	NP_001005500.1	WXS	Illumina GAIIx	Phase_I	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	530_531	+	all_cancers(95;0.00108)		150					B9EH18|Q6IFA3	Frame_Shift_Ins	INS	ENST00000315957.4	37	c.449_450insG	CCDS32021.1																																																																																				0.505	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			7	651						7	651	---	---	---	---
OR4N5	390437	broad.mit.edu	37	14	20612063	20612064	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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			9	941						9	941	---	---	---	---
ARHGEF40	55701	broad.mit.edu	37	14	21546603	21546604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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	227						11	227	---	---	---	---
OR10G2	26534	broad.mit.edu	37	14	22102924	22102925	+	Frame_Shift_Ins	INS	-	-	G	rs150140072	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:22102924_22102925insG	ENST00000542433.1	-	1	171_172	c.74_75insC	c.(73-75)ccafs	p.P25fs		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TTCTTAGATTTGGGGGGTGAGA	0.48																																						ENST00000542433.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22						c.(73-75)caafs		olfactory receptor, family 10, subfamily G, member 2																																				SO:0001589	frameshift_variant	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102924_22102925insG		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.75dupC	14.37:g.22102930_22102930dupG	ENSP00000445383:p.Pro25fs		Somatic					p.Q25fs	NM_001005466.1	NP_001005466.1	WXS	Illumina GAIIx	Phase_I	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	171_172	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	25					B2RPD0	Frame_Shift_Ins	INS	ENST00000542433.1	37	c.74_75insC	CCDS32047.1																																																																																				0.480	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			16	255						16	255	---	---	---	---
SLC7A8	23428	broad.mit.edu	37	14	23608664	23608665	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:23608664_23608665insG	ENST00000316902.7	-	6	1605_1606	c.880_881insC	c.(880-882)cagfs	p.Q294fs	SLC7A8_ENST00000422941.2_Frame_Shift_Ins_p.Q70fs|SLC7A8_ENST00000529705.2_Frame_Shift_Ins_p.Q189fs|SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000469263.1_Intron|SLC7A8_ENST00000453702.1_Frame_Shift_Ins_p.Q91fs	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	294					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CAGCAGCTCCTGGGGGGACATT	0.52																																						ENST00000316902.7																			0				autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24						c.(880-882)ggafs		solute carrier family 7 (amino acid transporter light chain, L system), member 8	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)																																			SO:0001589	frameshift_variant	23428				blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity	g.chr14:23608664_23608665insG	Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"""Solute carriers"""	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.881dupC	14.37:g.23608670_23608670dupG	ENSP00000320378:p.Gln294fs		Somatic				SLC7A8_ENST00000453702.1_Frame_Shift_Ins_p.G91fs|SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000422941.2_Frame_Shift_Ins_p.G70fs|SLC7A8_ENST00000469263.1_Intron|SLC7A8_ENST00000529705.2_Frame_Shift_Ins_p.G189fs	p.G294fs	NM_012244.3	NP_036376.2	WXS	Illumina GAIIx	Phase_I	Q9UHI5	LAT2_HUMAN		GBM - Glioblastoma multiforme(265;0.00809)	6	1605_1606	-	all_cancers(95;4.6e-05)		294					B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Frame_Shift_Ins	INS	ENST00000316902.7	37	c.880_881insC	CCDS9590.1																																																																																				0.520	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3			8	1275						8	1275	---	---	---	---
LRRC16B	90668	broad.mit.edu	37	14	24532702	24532703	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:24532702_24532703insC	ENST00000342740.5	+	31	3093_3094	c.2939_2940insC	c.(2938-2943)cgccccfs	p.RP980fs	LRRC16B_ENST00000334420.7_Frame_Shift_Ins_p.RP76fs	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	980						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGGAGGCCCCGCCCCCCCAGGA	0.594																																						ENST00000342740.5																			0				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52						c.(2938-2940)cccfs		leucine rich repeat containing 16B																																				SO:0001589	frameshift_variant	90668							g.chr14:24532702_24532703insC	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.2946dupC	14.37:g.24532709_24532709dupC	ENSP00000340467:p.Arg980fs		Somatic				LRRC16B_ENST00000334420.7_Frame_Shift_Ins_p.P76fs	p.P980fs	NM_138360.3	NP_612369.3	WXS	Illumina GAIIx	Phase_I	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	31	3093_3094	+			980					Q8TEF7|Q96HS9	Frame_Shift_Ins	INS	ENST00000342740.5	37	c.2939_2940insC	CCDS32054.1																																																																																				0.594	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		10	83						10	83	---	---	---	---
IPO4	79711	broad.mit.edu	37	14	24655355	24655356	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:24655355_24655356insG	ENST00000354464.6	-	11	1214_1215	c.1038_1039insC	c.(1036-1041)cccgagfs	p.E347fs	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	347					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CAGAGCTTCTCGGGGGGCAGGT	0.589																																						ENST00000354464.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33						c.(1036-1041)ccagaafs		importin 4																																				SO:0001589	frameshift_variant	79711				intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr14:24655355_24655356insG	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.1039dupC	14.37:g.24655361_24655361dupG	ENSP00000346453:p.Glu347fs		Somatic				RP11-468E2.2_ENST00000561419.1_3'UTR	p.E347fs	NM_024658.3	NP_078934.3	WXS	Illumina GAIIx	Phase_I	Q8TEX9	IPO4_HUMAN		GBM - Glioblastoma multiforme(265;0.0087)	11	1214_1215	-			347					B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Frame_Shift_Ins	INS	ENST00000354464.6	37	c.1038_1039insC	CCDS9616.1																																																																																				0.589	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		9	372						9	372	---	---	---	---
CTSG	1511	broad.mit.edu	37	14	25042847	25042848	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:25042847_25042848insG	ENST00000216336.2	-	5	799_800	c.763_764insC	c.(763-765)ctgfs	p.L255fs		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	255					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		AGTCAGTCACAGGGGGGTCTCC	0.49																																						ENST00000216336.2																			0				autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(763-765)gtgfs		cathepsin G																																				SO:0001589	frameshift_variant	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25042847_25042848insG	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.764dupC	14.37:g.25042853_25042853dupG	ENSP00000216336:p.Leu255fs		Somatic					p.V255fs	NM_001911.2	NP_001902.1	WXS	Illumina GAIIx	Phase_I	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	5	799_800	-			255					Q6IBJ6|Q9UCA5|Q9UCU6	Frame_Shift_Ins	INS	ENST00000216336.2	37	c.763_764insC	CCDS9631.1																																																																																				0.490	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		15	2335						15	2335	---	---	---	---
HECTD1	25831	broad.mit.edu	37	14	31590706	31590706	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:31590706delC	ENST00000399332.1	-	28	5609	c.5121delG	c.(5119-5121)ctgfs	p.L1707fs	HECTD1_ENST00000553700.1_Frame_Shift_Del_p.L1707fs	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1707					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ATGGGCGTCTCAGAATCTAAA	0.478																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(5119-5121)ctfs		HECT domain containing E3 ubiquitin protein ligase 1							56.0	61.0	59.0					14																	31590706		1911	4117	6028	SO:0001589	frameshift_variant	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31590706delC	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.5121delG	14.37:g.31590706delC	ENSP00000382269:p.Leu1707fs		Somatic				HECTD1_ENST00000553700.1_Frame_Shift_Del_p.L1707fs	p.L1707fs	NM_015382.2	NP_056197.2	WXS	Illumina GAIIx	Phase_I	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	28	5609	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1707					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Frame_Shift_Del	DEL	ENST00000399332.1	37	c.5121delG	CCDS41939.1																																																																																				0.478	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			26	323						26	323	---	---	---	---
PSMA6	5687	broad.mit.edu	37	14	35782215	35782216	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:35782215_35782216insA	ENST00000261479.4	+	5	658_659	c.538_539insA	c.(538-540)gaafs	p.E180fs	KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000540871.1_Frame_Shift_Ins_p.E161fs|PSMA6_ENST00000556506.1_Frame_Shift_Ins_p.E180fs|PSMA6_ENST00000553809.1_Frame_Shift_Ins_p.E186fs|PSMA6_ENST00000555764.1_Frame_Shift_Ins_p.E101fs	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	180					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of inflammatory response (GO:0050727)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|myofibril (GO:0030016)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)|sarcomere (GO:0030017)	endopeptidase activity (GO:0004175)|NF-kappaB binding (GO:0051059)|purine ribonucleoside triphosphate binding (GO:0035639)|RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		CAGCTTCCTTGAAAAAAAAGTG	0.406																																						ENST00000261479.4																			0				kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10						c.(538-540)aaafs		proteasome (prosome, macropain) subunit, alpha type, 6																																				SO:0001589	frameshift_variant	5687				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity	g.chr14:35782215_35782216insA	X59417	CCDS9655.1, CCDS61437.1, CCDS61438.1	14q13	2003-03-12			ENSG00000100902	ENSG00000100902		"""Proteasome (prosome, macropain) subunits"""	9535	protein-coding gene	gene with protein product		602855				1888762, 8811196	Standard	NM_002791		Approved	IOTA, PROS27, p27K, MGC22756, MGC2333, MGC23846	uc001wtd.3	P60900	OTTHUMG00000140221	ENST00000261479.4:c.546dupA	14.37:g.35782223_35782223dupA	ENSP00000261479:p.Glu180fs		Somatic				PSMA6_ENST00000553809.1_Frame_Shift_Ins_p.K186fs|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000540871.1_Frame_Shift_Ins_p.K161fs|PSMA6_ENST00000556506.1_Frame_Shift_Ins_p.K180fs|PSMA6_ENST00000555764.1_Frame_Shift_Ins_p.K101fs	p.K180fs	NM_002791.1	NP_002782.1	WXS	Illumina GAIIx	Phase_I	P60900	PSA6_HUMAN	Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)	5	658_659	+	Breast(36;0.0519)|Hepatocellular(127;0.158)		180					B2R7J9|B4DQR4|B4DXJ9|P34062|Q6IB60	Frame_Shift_Ins	INS	ENST00000261479.4	37	c.538_539insA	CCDS9655.1																																																																																				0.406	PSMA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276684.1			7	299						7	299	---	---	---	---
CDKL1	8814	broad.mit.edu	37	14	50862468	50862468	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:50862468delT	ENST00000216378.2	-	2	766	c.122delA	c.(121-123)gatfs	p.D42fs	CDKL1_ENST00000395834.1_Frame_Shift_Del_p.D42fs|CDKL1_ENST00000356146.1_5'UTR|RP11-247L20.3_ENST00000556713.1_lincRNA	NM_001282236.1	NP_001269165.1	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	41	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					GACAGGGTCATCTTCTGATTC	0.403																																						ENST00000216378.2																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12						c.(121-123)gtfs		cyclin-dependent kinase-like 1 (CDC2-related kinase)							79.0	85.0	83.0					14																	50862468		2203	4300	6503	SO:0001589	frameshift_variant	8814					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr14:50862468delT	AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"""Cyclin-dependent kinases"""	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000216378.2:c.122delA	14.37:g.50862468delT	ENSP00000216378:p.Asp42fs		Somatic				CDKL1_ENST00000395834.1_Frame_Shift_Del_p.D42fs|CDKL1_ENST00000356146.1_5'UTR	p.D42fs			WXS	Illumina GAIIx	Phase_I	Q00532	CDKL1_HUMAN			2	766	-	all_epithelial(31;0.000746)|Breast(41;0.0102)		41			Protein kinase.		Q2M3A4|Q6QUA0|Q8WXQ5	Frame_Shift_Del	DEL	ENST00000216378.2	37	c.122delA																																																																																					0.403	CDKL1-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382103.1			44	127						44	127	---	---	---	---
NID2	22795	broad.mit.edu	37	14	52481916	52481917	+	Frame_Shift_Ins	INS	-	-	T	rs946615|rs553457436	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:52481916_52481917insT	ENST00000216286.5	-	15	3104_3105	c.3105_3106insA	c.(3103-3108)cgggatfs	p.D1036fs	NID2_ENST00000541773.1_Frame_Shift_Ins_p.D935fs	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1036	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TACTGGTCATCCCGGGGGGTGC	0.629																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(3103-3108)cgatgafs		nidogen 2 (osteonidogen)																																				SO:0001589	frameshift_variant	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52481916_52481917insT	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.3105_3106insA	14.37:g.52481916_52481917insT	ENSP00000216286:p.Asp1036fs		Somatic				NID2_ENST00000541773.1_Frame_Shift_Ins_p.*935fs	p.*1036fs	NM_007361.3	NP_031387.3	WXS	Illumina GAIIx	Phase_I	Q14112	NID2_HUMAN			15	3104_3105	-	Breast(41;0.0639)|all_epithelial(31;0.123)		1036			Thyroglobulin type-1 2.		A8K6I7|B4DU19|O43710	Frame_Shift_Ins	INS	ENST00000216286.5	37	c.3105_3106insA	CCDS9706.1																																																																																				0.629	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			7	216						7	216	---	---	---	---
FBXO34	55030	broad.mit.edu	37	14	55818226	55818227	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:55818226_55818227insC	ENST00000313833.4	+	2	1363_1364	c.1118_1119insC	c.(1117-1122)tgccccfs	p.CP373fs	FBXO34_ENST00000440021.1_Frame_Shift_Ins_p.CP373fs	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	373										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TCTCAGGACTGCCCCCCATTGC	0.53																																						ENST00000313833.4																			0				breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						c.(1117-1119)tccfs		F-box protein 34																																				SO:0001589	frameshift_variant	55030							g.chr14:55818226_55818227insC	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1124dupC	14.37:g.55818232_55818232dupC	ENSP00000313159:p.Cys373fs		Somatic				FBXO34_ENST00000440021.1_Frame_Shift_Ins_p.S373fs	p.S373fs	NM_017943.3	NP_060413.2	WXS	Illumina GAIIx	Phase_I	Q9NWN3	FBX34_HUMAN			2	1363_1364	+			373					Q2VPB5|Q4VBP5|Q86TY4	Frame_Shift_Ins	INS	ENST00000313833.4	37	c.1118_1119insC	CCDS32086.1																																																																																				0.530	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			7	420						7	420	---	---	---	---
FNTB	2342	broad.mit.edu	37	14	65520040	65520041	+	Frame_Shift_Ins	INS	-	-	G	rs374785351|rs149471226	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:65520040_65520041insG	ENST00000246166.2	+	10	1274_1275	c.1040_1041insG	c.(1039-1044)gcggggfs	p.AG347fs	CHURC1-FNTB_ENST00000549987.1_Frame_Shift_Ins_p.AG382fs|FNTB_ENST00000447296.2_Frame_Shift_Ins_p.AG381fs|FNTB_ENST00000542227.1_Frame_Shift_Ins_p.AG301fs|MAX_ENST00000341653.2_Intron	NM_002028.3	NP_002019.1	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	347					negative regulation of cell proliferation (GO:0008285)|phototransduction, visible light (GO:0007603)|positive regulation of cell cycle (GO:0045787)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|protein farnesylation (GO:0018343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to cytokine (GO:0034097)|response to inorganic substance (GO:0010035)|response to organic cyclic compound (GO:0014070)|rhodopsin mediated signaling pathway (GO:0016056)|wound healing (GO:0042060)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	farnesyltranstransferase activity (GO:0004311)|protein farnesyltransferase activity (GO:0004660)|zinc ion binding (GO:0008270)	p.A347A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CAGTGCCCTGCGGGGGGGCTTC	0.599																																						ENST00000246166.2																			1	Substitution - coding silent(1)	p.A347A(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(1039-1041)gggfs		farnesyltransferase, CAAX box, beta																																				SO:0001589	frameshift_variant	2342							g.chr14:65520040_65520041insG		CCDS9769.1	14q23.3	2011-09-28			ENSG00000257365	ENSG00000257365			3785	protein-coding gene	gene with protein product		134636				8276393	Standard	NM_002028		Approved	FPTB		P49356	OTTHUMG00000142811	ENST00000246166.2:c.1047dupG	14.37:g.65520047_65520047dupG	ENSP00000246166:p.Ala347fs		Somatic				CHURC1-FNTB_ENST00000448390.2_Frame_Shift_Ins_p.G103fs|CHURC1-FNTB_ENST00000542227.1_Frame_Shift_Ins_p.G301fs|CHURC1-FNTB_ENST00000447296.2_Frame_Shift_Ins_p.G381fs|MAX_ENST00000341653.2_Intron	p.G347fs	NM_002028.3	NP_002019.1	WXS	Illumina GAIIx	Phase_I				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)	10	1274_1275	+								B2RDX6|B4E1A0	Frame_Shift_Ins	INS	ENST00000246166.2	37	c.1040_1041insG	CCDS9769.1																																																																																				0.599	FNTB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000286392.1	NM_002028		11	256						11	256	---	---	---	---
GALNT16	57452	broad.mit.edu	37	14	69800299	69800300	+	Frame_Shift_Ins	INS	-	-	G	rs144140025		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:69800299_69800300insG	ENST00000337827.4	+	9	1276_1277	c.949_950insG	c.(949-951)tggfs	p.W317fs	GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.W317fs|GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.W317fs	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	317	Catalytic subdomain B.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GATGGACATCTGGGGGGGAGAG	0.47																																						ENST00000337827.4																			0											c.(949-951)gggfs		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																																				SO:0001589	frameshift_variant	57452							g.chr14:69800299_69800300insG	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.956dupG	14.37:g.69800306_69800306dupG	ENSP00000336729:p.Trp317fs		Somatic				GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.G317fs|GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.G317fs	p.G317fs	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	WXS	Illumina GAIIx	Phase_I					9	1276_1277	+								Q4KMG3|Q58A55|Q9ULT9	Frame_Shift_Ins	INS	ENST00000337827.4	37	c.949_950insG	CCDS32107.1																																																																																				0.470	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		11	233						11	233	---	---	---	---
MED6	10001	broad.mit.edu	37	14	71051554	71051555	+	Frame_Shift_Ins	INS	-	-	G	rs145634622	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:71051554_71051555insG	ENST00000256379.5	-	8	745_746	c.716_717insC	c.(715-717)cctfs	p.P239fs	MED6_ENST00000440435.2_3'UTR|MED6_ENST00000430055.2_Frame_Shift_Ins_p.P246fs|MED6_ENST00000554963.1_Frame_Shift_Ins_p.P239fs	NM_001284209.1|NM_005466.2	NP_001271138.1|NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	239					gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.E240fs*1(1)		large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		TCCGTTTTTCAGGGGGGCCTTT	0.45																																						ENST00000256379.5																			1	Insertion - Frameshift(1)	p.E240fs*1(1)	skin(1)	large_intestine(2)|lung(2)|skin(1)	5						c.(715-717)cgafs		mediator complex subunit 6																																				SO:0001589	frameshift_variant	10001				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity	g.chr14:71051554_71051555insG	BC004106	CCDS9805.1, CCDS61483.1, CCDS61484.1, CCDS73649.1	14q24.1	2013-02-28	2007-07-30		ENSG00000133997	ENSG00000133997			19970	protein-coding gene	gene with protein product		602984	"""mediator of RNA polymerase II transcription, subunit 6 homolog (S. cerevisiae)"""			9234719, 9671713	Standard	NM_001284209		Approved	NY-REN-28	uc001xmf.3	O75586	OTTHUMG00000171252	ENST00000256379.5:c.717dupC	14.37:g.71051560_71051560dupG	ENSP00000256379:p.Pro239fs		Somatic				MED6_ENST00000440435.2_3'UTR|MED6_ENST00000430055.2_Frame_Shift_Ins_p.R246fs|MED6_ENST00000554963.1_Frame_Shift_Ins_p.R239fs	p.R239fs	NM_005466.2	NP_005457.2	WXS	Illumina GAIIx	Phase_I	O75586	MED6_HUMAN		all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)	8	745_746	-			239					B4DU17|B4E2P0|O15401|Q53FE3|Q53HJ3|Q6FHQ4|Q9BTH1|Q9UHL1	Frame_Shift_Ins	INS	ENST00000256379.5	37	c.716_717insC	CCDS9805.1																																																																																				0.450	MED6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412560.2	NM_005466		13	858						13	858	---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71444748	71444749	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:71444748_71444749insA	ENST00000304743.2	+	6	2140_2141	c.1694_1695insA	c.(1693-1698)ggaaaafs	p.GK565fs	PCNX_ENST00000238570.5_Frame_Shift_Ins_p.GK565fs|PCNX_ENST00000439984.3_Frame_Shift_Ins_p.GK565fs	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	565						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AGACGCACAGGAAAAAAACGGG	0.475																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(1693-1695)gaafs		pecanex homolog (Drosophila)																																				SO:0001589	frameshift_variant	22990					integral to membrane		g.chr14:71444748_71444749insA	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.1701dupA	14.37:g.71444755_71444755dupA	ENSP00000304192:p.Gly565fs		Somatic				PCNX_ENST00000439984.3_Frame_Shift_Ins_p.E565fs|PCNX_ENST00000238570.5_Frame_Shift_Ins_p.E565fs	p.E565fs	NM_014982.2	NP_055797.2	WXS	Illumina GAIIx	Phase_I	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	6	2140_2141	+			565					B2RTR6|O94897|Q96AI7|Q9Y2J9	Frame_Shift_Ins	INS	ENST00000304743.2	37	c.1694_1695insA	CCDS9806.1																																																																																				0.475	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		10	1061						10	1061	---	---	---	---
GPR65	8477	broad.mit.edu	37	14	88477555	88477555	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:88477555delT	ENST00000267549.3	+	2	922	c.364delT	c.(364-366)tttfs	p.F124fs	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	124					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						CCCTTTGAAGTTTTTTTTCCT	0.428																																						ENST00000267549.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						c.(364-366)ttfs		G protein-coupled receptor 65							199.0	194.0	196.0					14																	88477555		2203	4300	6503	SO:0001589	frameshift_variant	8477				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:88477555delT	U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"""GPCR / Class A : Orphans"""	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.364delT	14.37:g.88477555delT	ENSP00000267549:p.Phe124fs		Somatic				RP11-300J18.2_ENST00000554433.1_RNA	p.F124fs	NM_003608.3	NP_003599.2	WXS	Illumina GAIIx	Phase_I	Q8IYL9	PSYR_HUMAN			2	922	+			124					O75819	Frame_Shift_Del	DEL	ENST00000267549.3	37	c.364delT	CCDS9879.1																																																																																				0.428	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4			7	1097						7	1097	---	---	---	---
SERPINA1	5265	broad.mit.edu	37	14	94844884	94844885	+	Frame_Shift_Ins	INS	-	-	G	rs143329723|rs121912712	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:94844884_94844885insG	ENST00000448921.1	-	7	1730_1731	c.1158_1159insC	c.(1156-1161)cccgagfs	p.E387fs	SERPINA1_ENST00000393087.4_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000404814.4_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000355814.4_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000437397.1_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000393088.4_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000440909.1_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000449399.3_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_ENST00000355814.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000437397.1_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000440909.1_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000449399.3_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000404814.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000393088.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000393087.4_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		11	278						11	278	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105416915	105416927	+	Frame_Shift_Del	DEL	CCATGCTGGACAG	CCATGCTGGACAG	-	rs71421895|rs200852638|rs376710681|rs558588469|rs544174837	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:105416915_105416927delCCATGCTGGACAG	ENST00000333244.5	-	7	4980_4992	c.4861_4873delCTGTCCAGCATGG	c.(4861-4875)ctgtccagcatggagfs	p.LSSME1621fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1621						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACGTCCACCTCCATGCTGGACAGAGACATCTTC	0.606																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(4861-4875)agfs		AHNAK nucleoprotein 2																																				SO:0001589	frameshift_variant	113146					nucleus		g.chr14:105416915_105416927delCCATGCTGGACAG	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4861_4873delCTGTCCAGCATGG	14.37:g.105416915_105416927delCCATGCTGGACAG	ENSP00000353114:p.Leu1621fs		Somatic				AHNAK2_ENST00000557457.1_Intron	p.LSSME1621fs	NM_138420.2	NP_612429.2	WXS	Illumina GAIIx	Phase_I	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	4980_4992	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1621					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Frame_Shift_Del	DEL	ENST00000333244.5	37	c.4861_4873delCTGTCCAGCATGG	CCDS45177.1																																																																																				0.606	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		8	85						8	85	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105417410	105417422	+	Frame_Shift_Del	DEL	CCACGCTGGGCAG	CCACGCTGGGCAG	-	rs201507999|rs185696724|rs368623852	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr14:105417410_105417422delCCACGCTGGGCAG	ENST00000333244.5	-	7	4485_4497	c.4366_4378delCTGCCCAGCGTGG	c.(4366-4380)ctgcccagcgtggagfs	p.LPSVE1456fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1456						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACATCCACCTCCACGCTGGGCAGAGAAACCTCC	0.577																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(4366-4380)agfs		AHNAK nucleoprotein 2																																				SO:0001589	frameshift_variant	113146					nucleus		g.chr14:105417410_105417422delCCACGCTGGGCAG	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4366_4378delCTGCCCAGCGTGG	14.37:g.105417410_105417422delCCACGCTGGGCAG	ENSP00000353114:p.Leu1456fs		Somatic				AHNAK2_ENST00000557457.1_Intron	p.LPSVE1456fs	NM_138420.2	NP_612429.2	WXS	Illumina GAIIx	Phase_I	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	4485_4497	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1456					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Frame_Shift_Del	DEL	ENST00000333244.5	37	c.4366_4378delCTGCCCAGCGTGG	CCDS45177.1																																																																																				0.577	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		13	59						13	59	---	---	---	---
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G	rs570771230|rs571384652	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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			39	875						39	875	---	---	---	---
TRPM1	4308	broad.mit.edu	37	15	31355449	31355450	+	Frame_Shift_Ins	INS	-	-	C	rs371005282		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:31355449_31355450insC	ENST00000256552.6	-	8	983_984	c.836_837insG	c.(835-837)ggcfs	p.G279fs	TRPM1_ENST00000542188.1_Frame_Shift_Ins_p.G296fs|TRPM1_ENST00000397795.2_Frame_Shift_Ins_p.G257fs|MIR211_ENST00000384969.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCACGTTAGGGCCCCCCTCCAC	0.614																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(886-888)gccfs		transient receptor potential cation channel, subfamily M, member 1																																				SO:0001589	frameshift_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31355449_31355450insC	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.837dupG	15.37:g.31355455_31355455dupC	ENSP00000256552:p.Gly279fs		Somatic				TRPM1_ENST00000397795.2_Frame_Shift_Ins_p.A257fs|TRPM1_ENST00000256552.6_Frame_Shift_Ins_p.A279fs	p.A296fs	NM_001252020.1	NP_001238949.1	WXS	Illumina GAIIx	Phase_I	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	7	1200_1201	-		all_lung(180;1.92e-11)	257						Frame_Shift_Ins	INS	ENST00000256552.6	37	c.887_888insG	CCDS58346.1																																																																																				0.614	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		7	352						7	352	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34078053	34078054	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:34078053_34078054insC	ENST00000389232.4	+	66	9529_9530	c.9459_9460insC	c.(9460-9462)cccfs	p.P3154fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.P3154fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3154					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGAGAACCTGCCCCCCAGCAC	0.564																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(9457-9462)ctccccfs		ryanodine receptor 3																																				SO:0001589	frameshift_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34078053_34078054insC		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9465dupC	15.37:g.34078059_34078059dupC	ENSP00000373884:p.Pro3154fs		Somatic				RYR3_ENST00000415757.3_Frame_Shift_Ins_p.LP3153fs	p.LP3153fs	NM_001036.3	NP_001027.3	WXS	Illumina GAIIx	Phase_I	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	66	9529_9530	+		all_lung(180;7.18e-09)	3153					O15175|Q15412	Frame_Shift_Ins	INS	ENST00000389232.4	37	c.9459_9460insC	CCDS45210.1																																																																																				0.564	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			12	337						12	337	---	---	---	---
THBS1	7057	broad.mit.edu	37	15	39881488	39881489	+	Frame_Shift_Ins	INS	-	-	C	rs370418172		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:39881488_39881489insC	ENST00000260356.5	+	12	2024_2025	c.1859_1860insC	c.(1858-1863)tgccccfs	p.CP620fs		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	620					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TGCCTGCCCTGCCCCCCACGCT	0.569																																						ENST00000260356.5																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(1858-1860)tccfs		thrombospondin 1	Becaplermin(DB00102)																																			SO:0001589	frameshift_variant	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39881488_39881489insC		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.1865dupC	15.37:g.39881494_39881494dupC	ENSP00000260356:p.Cys620fs		Somatic					p.S620fs	NM_003246.2	NP_003237.2	WXS	Illumina GAIIx	Phase_I	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	12	2024_2025	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	620			EGF-like 2; calcium-binding (Potential).		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Frame_Shift_Ins	INS	ENST00000260356.5	37	c.1859_1860insC	CCDS32194.1																																																																																				0.569	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		8	514						8	514	---	---	---	---
BMF	90427	broad.mit.edu	37	15	40396470	40396471	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:40396470_40396471insG	ENST00000354670.4	-	4	597_598	c.363_364insC	c.(361-366)cccgaafs	p.E122fs	BMF_ENST00000561282.1_Frame_Shift_Ins_p.E122fs|BMF_ENST00000431415.3_Frame_Shift_Ins_p.E122fs|BMF_ENST00000559701.1_Intron|BMF_ENST00000397573.1_Frame_Shift_Ins_p.E122fs|BMF_ENST00000220446.4_Intron|BMF_ENST00000561360.1_Frame_Shift_Ins_p.E122fs|BMF_ENST00000558774.1_Intron	NM_001003940.1	NP_001003940.1	Q96LC9	BMF_HUMAN	Bcl2 modifying factor	122					anoikis (GO:0043276)|apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-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;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		CACTGCCCTTCGGGGGGCTGCT	0.569																																						ENST00000354670.4																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6						c.(361-366)ccaaggfs		Bcl2 modifying factor																																				SO:0001589	frameshift_variant	90427				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|mitochondrial outer membrane|myosin complex|plasma membrane	protein binding	g.chr15:40396470_40396471insG	BC060783	CCDS10052.1, CCDS32196.1, CCDS45223.1	15q14	2014-03-07			ENSG00000104081	ENSG00000104081			24132	protein-coding gene	gene with protein product		606266				11546872	Standard	NM_001003943		Approved	FLJ00065	uc001zkw.4	Q96LC9	OTTHUMG00000129875	ENST00000354670.4:c.364dupC	15.37:g.40396476_40396476dupG	ENSP00000346697:p.Glu122fs		Somatic				BMF_ENST00000559701.1_Intron|BMF_ENST00000220446.4_Intron|BMF_ENST00000558774.1_Intron|BMF_ENST00000431415.3_Frame_Shift_Ins_p.R122fs|BMF_ENST00000397573.1_Frame_Shift_Ins_p.R122fs|BMF_ENST00000561360.1_Frame_Shift_Ins_p.R122fs|BMF_ENST00000561282.1_Frame_Shift_Ins_p.R122fs	p.R122fs	NM_001003940.1	NP_001003940.1	WXS	Illumina GAIIx	Phase_I	Q96LC9	BMF_HUMAN		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)	4	597_598	-		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-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)	122					Q2M396|Q6NT30|Q6NT56|Q6P9F6|Q7Z7D4|Q7Z7D5|Q9H7K7	Frame_Shift_Ins	INS	ENST00000354670.4	37	c.363_364insC	CCDS10052.1																																																																																				0.569	BMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252119.1	NM_033503		15	872						15	872	---	---	---	---
C15orf52	388115	broad.mit.edu	37	15	40630771	40630772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:40630771_40630772insG	ENST00000559313.1	-	5	624_625	c.609_610insC	c.(607-612)cccacgfs	p.T204fs	C15orf52_ENST00000557973.1_5'Flank|C15orf52_ENST00000397536.2_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	204							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCCACCTGCGTGGGGGGGCTTC	0.584											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000559313.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19						c.(607-612)cccgcafs		chromosome 15 open reading frame 52																																				SO:0001589	frameshift_variant	388115							g.chr15:40630771_40630772insG	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.610dupC	15.37:g.40630778_40630778dupG	ENSP00000453969:p.Thr204fs		Somatic	OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	894		p.A204fs	NM_207380.2	NP_997263.2	WXS	Illumina GAIIx	Phase_I	Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	5	624_625	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	204					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Frame_Shift_Ins	INS	ENST00000559313.1	37	c.609_610insC	CCDS10055.2																																																																																				0.584	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380		12	227						12	227	---	---	---	---
GANC	2595	broad.mit.edu	37	15	42614143	42614144	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:42614143_42614144insGA	ENST00000318010.8	+	11	1458_1459	c.1218_1219insGA	c.(1219-1221)tacfs	p.Y407fs		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	407					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	AGGGCAAGAGGTACTTCACCTG	0.465																																						ENST00000318010.8																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1216-1221)agacttfs		glucosidase, alpha; neutral C																																				SO:0001589	frameshift_variant	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42614143_42614144insGA	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	Exception_encountered	15.37:g.42614143_42614144insGA	ENSP00000326227:p.Tyr407fs		Somatic					p.L407fs	NM_198141.2	NP_937784.2	WXS	Illumina GAIIx	Phase_I	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	11	1458_1459	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	407					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Frame_Shift_Ins	INS	ENST00000318010.8	37	c.1218_1219insGA	CCDS10084.1																																																																																				0.465	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		20	147						20	147	---	---	---	---
DUOX2	50506	broad.mit.edu	37	15	45390258	45390259	+	Splice_Site	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:45390258_45390259insG	ENST00000603300.1	-	27	3718		c.e27-2		DUOX2_ENST00000389039.6_Splice_Site	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2						adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGCTTGGACCTGGGGGGCAAAG	0.584																																						ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.e27-2		dual oxidase 2																																				SO:0001630	splice_region_variant	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45390258_45390259insG	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.3516-2->C	15.37:g.45390264_45390264dupG			Somatic				DUOX2_ENST00000603300.1_Splice_Site				WXS	Illumina GAIIx	Phase_I	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	27	3901	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)						A8MQ13|D2XI64|Q9NR02|Q9UHF9	Splice_Site	INS	ENST00000603300.1	37		CCDS10117.1																																																																																				0.584	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080	Intron	7	278						7	278	---	---	---	---
SLC12A1	6557	broad.mit.edu	37	15	48539131	48539132	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:48539131_48539132insC	ENST00000558405.1	+	11	1492_1493	c.1478_1479insC	c.(1477-1482)ggccccfs	p.GP493fs	SLC12A1_ENST00000396577.3_Frame_Shift_Ins_p.GP493fs|SLC12A1_ENST00000380993.3_Frame_Shift_Ins_p.GP493fs			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	493					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TCAGGGTTCGGCCCCCTCATCA	0.495																																						ENST00000396577.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59						c.(1477-1479)gccfs		solute carrier family 12 (sodium/potassium/chloride transporter), member 1	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)																																			SO:0001589	frameshift_variant	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48539131_48539132insC		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.1483dupC	15.37:g.48539136_48539136dupC	ENSP00000453409:p.Gly493fs		Somatic				SLC12A1_ENST00000380993.3_Frame_Shift_Ins_p.A493fs|SLC12A1_ENST00000558405.1_Frame_Shift_Ins_p.A493fs	p.A493fs	NM_001184832.1	NP_001171761.1	WXS	Illumina GAIIx	Phase_I	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	12	1693_1694	+		all_lung(180;0.00219)	493					A8JYA2|E9PDW4	Frame_Shift_Ins	INS	ENST00000558405.1	37	c.1478_1479insC	CCDS10129.2																																																																																				0.495	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			9	3167						9	3167	---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62254983	62254984	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:62254983_62254984insA	ENST00000261517.5	-	33	3472_3473	c.3399_3400insT	c.(3397-3402)attgtcfs	p.V1134fs	VPS13C_ENST00000395898.3_Frame_Shift_Ins_p.V1091fs|VPS13C_ENST00000249837.3_Frame_Shift_Ins_p.V1091fs|VPS13C_ENST00000395896.4_Frame_Shift_Ins_p.V1134fs	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ACATCTGTGACAATAATATTTT	0.322																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(3397-3402)attcacfs		vacuolar protein sorting 13 homolog C (S. cerevisiae)																																				SO:0001589	frameshift_variant	54832				protein localization			g.chr15:62254983_62254984insA	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.3400dupT	15.37:g.62254985_62254985dupA	ENSP00000261517:p.Val1134fs		Somatic				VPS13C_ENST00000395896.4_Frame_Shift_Ins_p.H1134fs|VPS13C_ENST00000395898.3_Frame_Shift_Ins_p.H1091fs|VPS13C_ENST00000249837.3_Frame_Shift_Ins_p.H1091fs	p.H1134fs	NM_020821.2	NP_065872.1	WXS	Illumina GAIIx	Phase_I	Q709C8	VP13C_HUMAN			33	3472_3473	-			1134						Frame_Shift_Ins	INS	ENST00000261517.5	37	c.3399_3400insT	CCDS32257.1																																																																																				0.322	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		8	38						8	38	---	---	---	---
TLN2	83660	broad.mit.edu	37	15	63131164	63131165	+	Frame_Shift_Ins	INS	-	-	G	rs200809264		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:63131164_63131165insG	ENST00000561311.1	+	57	7714_7715	c.7484_7485insG	c.(7483-7488)gtggggfs	p.VG2495fs	RP11-1069G10.1_ENST00000558404.1_RNA|TLN2_ENST00000306829.6_Frame_Shift_Ins_p.VG2495fs			Q9Y4G6	TLN2_HUMAN	talin 2	2495	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACCAAGTTTGTGGGGGGCATTG	0.426																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(7483-7485)gggfs		talin 2																																				SO:0001589	frameshift_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63131164_63131165insG	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.7490dupG	15.37:g.63131170_63131170dupG	ENSP00000453508:p.Val2495fs		Somatic				RP11-1069G10.1_ENST00000558404.1_RNA|TLN2_ENST00000306829.6_Frame_Shift_Ins_p.G2495fs	p.G2495fs			WXS	Illumina GAIIx	Phase_I	Q9Y4G6	TLN2_HUMAN			57	7714_7715	+			2495			I/LWEQ.		A6NLB8	Frame_Shift_Ins	INS	ENST00000561311.1	37	c.7484_7485insG	CCDS32261.1																																																																																				0.426	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			7	141						7	141	---	---	---	---
IGDCC4	57722	broad.mit.edu	37	15	65681239	65681240	+	Frame_Shift_Ins	INS	-	-	G	rs142796011		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:65681239_65681240insG	ENST00000352385.2	-	15	2822_2823	c.2613_2614insC	c.(2611-2616)cccacafs	p.T872fs		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	872	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TTGGGCTCTGTGGGGGGGCACC	0.663																																						ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(2611-2616)cccagafs		immunoglobulin superfamily, DCC subclass, member 4																																				SO:0001589	frameshift_variant	57722					integral to membrane|plasma membrane		g.chr15:65681239_65681240insG		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2614dupC	15.37:g.65681246_65681246dupG	ENSP00000319623:p.Thr872fs		Somatic					p.R872fs	NM_020962.1	NP_066013.1	WXS	Illumina GAIIx	Phase_I	Q8TDY8	IGDC4_HUMAN			15	2822_2823	-			872			Fibronectin type-III 5.		Q9HCE4	Frame_Shift_Ins	INS	ENST00000352385.2	37	c.2613_2614insC	CCDS10206.1																																																																																				0.663	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		10	75						10	75	---	---	---	---
ITGA11	22801	broad.mit.edu	37	15	68596149	68596150	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:68596149_68596150insC	ENST00000315757.7	-	29	3541_3542	c.3455_3456insG	c.(3454-3456)ggcfs	p.G1152fs	ITGA11_ENST00000423218.2_Frame_Shift_Ins_p.G1153fs|RP11-709B3.2_ENST00000569808.1_lincRNA	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	1152					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						GCAGTAGGAGGCCCCCCAGGGT	0.658																																						ENST00000423218.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						c.(3457-3459)gctfs		integrin, alpha 11	Tirofiban(DB00775)																																			SO:0001589	frameshift_variant	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68596149_68596150insC	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.3456dupG	15.37:g.68596155_68596155dupC	ENSP00000327290:p.Gly1152fs		Somatic				ITGA11_ENST00000315757.7_Frame_Shift_Ins_p.A1152fs	p.A1153fs			WXS	Illumina GAIIx	Phase_I	Q9UKX5	ITA11_HUMAN			29	3553_3554	-			1152			Poly-Leu.		J3KQM2|Q8WYI8|Q9UKQ1	Frame_Shift_Ins	INS	ENST00000315757.7	37	c.3458_3459insG	CCDS45291.1																																																																																				0.658	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		10	505						10	505	---	---	---	---
GOLGA6C	653641	broad.mit.edu	37	15	75562488	75562489	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:75562488_75562489insC	ENST00000300576.5	+	18	2030_2031	c.2030_2031insC	c.(2029-2034)aaccccfs	p.NP677fs	RN7SL489P_ENST00000486185.2_RNA	NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	677						Golgi apparatus (GO:0005794)				ovary(1)	1						CCCCATGACAACCCCCCGGTAC	0.604																																						ENST00000300576.5																			0				ovary(1)	1						c.(2029-2031)accfs		golgin A6 family, member C																																				SO:0001589	frameshift_variant	653641							g.chr15:75562488_75562489insC		CCDS58388.1	15q24.2	2014-02-12	2010-02-12		ENSG00000167195	ENSG00000167195			32206	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6C"""				Standard	NM_001164404		Approved		uc002azs.2	A6NDK9	OTTHUMG00000172671	ENST00000300576.5:c.2036dupC	15.37:g.75562494_75562494dupC	ENSP00000300576:p.Asn677fs		Somatic					p.T677fs	NM_001164404.1	NP_001157876.1	WXS	Illumina GAIIx	Phase_I	A6NDK9	GOG6C_HUMAN			18	2030_2031	+			677						Frame_Shift_Ins	INS	ENST00000300576.5	37	c.2030_2031insC	CCDS58388.1																																																																																				0.604	GOLGA6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419797.1	NM_001164404		8	707						8	707	---	---	---	---
LOC645752	645752	broad.mit.edu	37	15	78214328	78214329	+	lincRNA	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:78214328_78214329insC	ENST00000565869.1	+	0	320_321				RP11-114H24.2_ENST00000567226.1_RNA																							GCATCTGAGTGCCCCCCAAACC	0.53																																						ENST00000565869.1																			0																																																			645752							g.chr15:78214328_78214329insC																													15.37:g.78214334_78214334dupC			Somatic				RP11-114H24.2_ENST00000567226.1_RNA				WXS	Illumina GAIIx	Phase_I					0	320_321	+									RNA	INS	ENST00000565869.1	37																																																																																						0.530	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			11	478						11	478	---	---	---	---
IGF1R	3480	broad.mit.edu	37	15	99251108	99251109	+	Frame_Shift_Ins	INS	-	-	G	rs121912426		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:99251108_99251109insG	ENST00000268035.6	+	2	1023_1024	c.412_413insG	c.(412-414)cggfs	p.R138fs	IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.R138fs	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	138			R -> Q (in IGF1RES; has decreased IGF1R function). {ECO:0000269|PubMed:14657428}.		axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GAACATTACTCGGGGGGCCATC	0.51																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	GRCh37	CM035076	IGF1R	M	rs121912426	c.(412-414)gggfs		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)																																			SO:0001589	frameshift_variant	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99251108_99251109insG	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.418dupG	15.37:g.99251114_99251114dupG	ENSP00000268035:p.Arg138fs		Somatic				IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.G138fs	p.G138fs	NM_000875.3	NP_000866.1	WXS	Illumina GAIIx	Phase_I	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		2	1023_1024	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		138		R -> Q (in IGF1RES; has decreased IGF1R function).			B1B5Y2|Q14CV2|Q9UCC0	Frame_Shift_Ins	INS	ENST00000268035.6	37	c.412_413insG	CCDS10378.1																																																																																				0.510	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		11	189						11	189	---	---	---	---
CHSY1	22856	broad.mit.edu	37	15	101775436	101775437	+	Frame_Shift_Ins	INS	-	-	C	rs74545602	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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		11	144						11	144	---	---	---	---
OR4F6	390648	broad.mit.edu	37	15	102346204	102346205	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:102346204_102346205insG	ENST00000328882.4	+	1	303_304	c.282_283insG	c.(283-285)gggfs	p.G95fs		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CCATCTCTTTTGGGGGCTGTGT	0.455																																						ENST00000328882.4																			0				breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(280-285)ttggggfs		olfactory receptor, family 4, subfamily F, member 6																																				SO:0001589	frameshift_variant	390648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102346204_102346205insG	AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"""GPCR / Class A : Olfactory receptors"""	15372	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily F, member 12"""	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.287dupG	15.37:g.102346209_102346209dupG	ENSP00000327525:p.Gly95fs		Somatic					p.LG94fs	NM_001005326.1	NP_001005326.1	WXS	Illumina GAIIx	Phase_I	Q8NGB9	OR4F6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	303_304	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		94					B9EH28|Q6IF95	Frame_Shift_Ins	INS	ENST00000328882.4	37	c.282_283insG	CCDS32341.1																																																																																				0.455	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			8	1219						8	1219	---	---	---	---
IL9RP3	729486	broad.mit.edu	37	16	81765	81766	+	RNA	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:81765_81766insC	ENST00000568710.1	-	0	434																											GGCAACCCCTGCCCCCCATGTC	0.564																																						ENST00000568710.1																			0																																																			729486							g.chr16:81765_81766insC																													16.37:g.81771_81771dupC			Somatic								WXS	Illumina GAIIx	Phase_I					0	434	-									RNA	INS	ENST00000568710.1	37																																																																																						0.564	Z84812.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000420570.1			9	572						9	572	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2815060	2815061	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:2815060_2815061insC	ENST00000301740.8	+	11	5080_5081	c.4531_4532insC	c.(4531-4533)accfs	p.T1511fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1511	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAAGTGTCTTACCCCCCAGAGA	0.525																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(4531-4533)cccfs		serine/arginine repetitive matrix 2																																				SO:0001589	frameshift_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2815060_2815061insC	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.4537dupC	16.37:g.2815066_2815066dupC	ENSP00000301740:p.Thr1511fs		Somatic					p.P1511fs	NM_016333.3	NP_057417.3	WXS	Illumina GAIIx	Phase_I	Q9UQ35	SRRM2_HUMAN			11	5080_5081	+			1511			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Frame_Shift_Ins	INS	ENST00000301740.8	37	c.4531_4532insC	CCDS32373.1																																																																																				0.525	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			9	384						9	384	---	---	---	---
ZNF200	7752	broad.mit.edu	37	16	3273975	3273976	+	Frame_Shift_Ins	INS	-	-	T	rs573180994		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:3273975_3273976insT	ENST00000431561.3	-	5	1716_1717	c.1104_1105insA	c.(1102-1107)aaatgtfs	p.C369fs	ZNF200_ENST00000396868.3_Frame_Shift_Ins_p.C368fs|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000575948.1_Frame_Shift_Ins_p.C368fs|ZNF200_ENST00000414144.2_Frame_Shift_Ins_p.C369fs|ZNF200_ENST00000396870.4_Frame_Shift_Ins_p.C368fs|ZNF200_ENST00000396871.4_Frame_Shift_Ins_p.C368fs	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	369					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)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						CTTCTCCCACATTTTTTGCAAC	0.455																																						ENST00000431561.3																			0				breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						c.(1102-1107)aagtggfs		zinc finger protein 200																																				SO:0001589	frameshift_variant	7752				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr16:3273975_3273976insT	AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539		"""Zinc fingers, C2H2-type"""	12993	protein-coding gene	gene with protein product		603231				9288094, 9787081	Standard	NM_003454		Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.1105dupA	16.37:g.3273981_3273981dupT	ENSP00000395723:p.Cys369fs		Somatic				ZNF200_ENST00000396868.3_Frame_Shift_Ins_p.W368fs|ZNF200_ENST00000414144.2_Frame_Shift_Ins_p.W369fs|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000396871.4_Frame_Shift_Ins_p.W368fs|ZNF200_ENST00000396870.4_Frame_Shift_Ins_p.W368fs|ZNF200_ENST00000575948.1_Frame_Shift_Ins_p.W368fs	p.W369fs	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	WXS	Illumina GAIIx	Phase_I	P98182	ZN200_HUMAN			5	1716_1717	-			369					D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Frame_Shift_Ins	INS	ENST00000431561.3	37	c.1104_1105insA	CCDS10497.1																																																																																				0.455	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000437545.1			8	539						8	539	---	---	---	---
SLX4	84464	broad.mit.edu	37	16	3634840	3634841	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:3634840_3634841insG	ENST00000294008.3	-	13	5308_5309	c.4668_4669insC	c.(4666-4671)cccaaafs	p.K1557fs	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1557	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						ATGGGCACTTTGGGGGGCAAGT	0.5								Direct reversal of damage																														ENST00000294008.3																			0				breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(4666-4671)ccaagtfs	Direct reversal of damage	SLX4 structure-specific endonuclease subunit				0,4264		0,0,2132						5.5	1.0			163	1,8247		0,1,4123	no	frameshift	SLX4	NM_032444.2		0,1,6255	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12511				SO:0001589	frameshift_variant	84464				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3634840_3634841insG	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.4669dupC	16.37:g.3634846_3634846dupG	ENSP00000294008:p.Lys1557fs		Somatic					p.S1557fs	NM_032444.2	NP_115820.2	WXS	Illumina GAIIx	Phase_I	Q8IY92	SLX4_HUMAN			13	5308_5309	-			1557			Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.		Q69YT8|Q8TF15|Q96JP1	Frame_Shift_Ins	INS	ENST00000294008.3	37	c.4668_4669insC	CCDS10506.2																																																																																				0.500	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		34	733						34	733	---	---	---	---
ADCY9	115	broad.mit.edu	37	16	4016046	4016047	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:4016046_4016047delGA	ENST00000294016.3	-	11	4329_4330	c.3791_3792delTC	c.(3790-3792)gtcfs	p.V1264fs		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1264					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CATCCACCTGGACGCGGATGTC	0.569																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3790-3792)gfs		adenylate cyclase 9																																				SO:0001589	frameshift_variant	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4016046_4016047delGA	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3791_3792delTC	16.37:g.4016046_4016047delGA	ENSP00000294016:p.Val1264fs		Somatic					p.V1264fs	NM_001116.3	NP_001107.2	WXS	Illumina GAIIx	Phase_I	O60503	ADCY9_HUMAN			11	4329_4330	-			1264	QHQLSISPDIRVQVDGSIGRSPTDEIANLVPSVQYVDKTSL GSDSSTQAKDAHLSPKRPWKEPVKAEERGRFGKAIEKDDCD ETGIEEANELTKLNVSKSV -> APAVHLPRHPRPGGWQHR TVSHRRDCQPGAFCPVCGQDISGF (in Ref. 1; AAC24201).				A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Frame_Shift_Del	DEL	ENST00000294016.3	37	c.3791_3792delTC	CCDS32382.1																																																																																				0.569	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			8	99						8	99	---	---	---	---
EMP2	2013	broad.mit.edu	37	16	10637490	10637491	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:10637490_10637491insA	ENST00000359543.3	-	3	314_315	c.105_106insT	c.(103-108)tttgcafs	p.A36fs	EMP2_ENST00000536829.1_Frame_Shift_Ins_p.A36fs	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN	epithelial membrane protein 2	36					cell proliferation (GO:0008283)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|regulation of glomerular filtration (GO:0003093)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	integrin binding (GO:0005178)			NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						CAGACATCTGCAAAAAACTCAT	0.441																																					GBM(158;2021 2691 14714 39478)	ENST00000359543.3																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(103-108)ttcagafs		epithelial membrane protein 2																																				SO:0001589	frameshift_variant	2013				cell proliferation	integral to membrane		g.chr16:10637490_10637491insA	U52100	CCDS10541.1	16p13.2	2008-08-01			ENSG00000213853	ENSG00000213853			3334	protein-coding gene	gene with protein product		602334				8996089, 10331954, 16216233	Standard	NM_001424		Approved	XMP	uc002czx.3	P54851	OTTHUMG00000129752	ENST00000359543.3:c.106dupT	16.37:g.10637496_10637496dupA	ENSP00000352540:p.Ala36fs		Somatic				EMP2_ENST00000536829.1_Frame_Shift_Ins_p.R36fs	p.R36fs	NM_001424.4	NP_001415.1	WXS	Illumina GAIIx	Phase_I	P54851	EMP2_HUMAN			3	314_315	-			36					B2R7V6|D3DUF8	Frame_Shift_Ins	INS	ENST00000359543.3	37	c.105_106insT	CCDS10541.1																																																																																				0.441	EMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251965.1	NM_001424		12	1192						12	1192	---	---	---	---
SNX29	92017	broad.mit.edu	37	16	12162916	12162917	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:12162916_12162917insC	ENST00000566228.1	+	10	1315_1316	c.1246_1247insC	c.(1246-1248)gccfs	p.A416fs	SNX29_ENST00000323433.4_Frame_Shift_Ins_p.A31fs|SNX29_ENST00000306030.3_Frame_Shift_Ins_p.A31fs	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	416						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CTGCACAGATGCCCCCCTCGGA	0.495																																						ENST00000566228.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						c.(1246-1248)cccfs		sorting nexin 29																																				SO:0001589	frameshift_variant	92017				cell communication		phosphatidylinositol binding	g.chr16:12162916_12162917insC	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.1252dupC	16.37:g.12162922_12162922dupC	ENSP00000456480:p.Ala416fs		Somatic				SNX29_ENST00000323433.4_Frame_Shift_Ins_p.P31fs|SNX29_ENST00000306030.3_Frame_Shift_Ins_p.P31fs	p.P416fs	NM_032167.3	NP_115543.3	WXS	Illumina GAIIx	Phase_I	Q8TEQ0	SNX29_HUMAN			10	1315_1316	+			31					B5MDW2|Q8N2X2|Q9HA26	Frame_Shift_Ins	INS	ENST00000566228.1	37	c.1246_1247insC	CCDS10553.2																																																																																				0.495	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			15	1649						15	1649	---	---	---	---
MKL2	57496	broad.mit.edu	37	16	14346299	14346300	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:14346299_14346300insC	ENST00000341243.5	+	13	2610_2611	c.2610_2611insC	c.(2611-2613)cccfs	p.P871fs	MKL2_ENST00000571589.1_Frame_Shift_Ins_p.P882fs|MKL2_ENST00000318282.5_Frame_Shift_Ins_p.P832fs|MKL2_ENST00000574045.1_Frame_Shift_Ins_p.P832fs			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	871					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGACAAAAGATCCCCCCCGCTA	0.564																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2641-2646)gaccccfs		MKL/myocardin-like 2				2,4262		0,2,2130						1.0	1.0			79	5,8247		0,5,4121	no	frameshift	MKL2	NM_014048.3		0,7,6251	A1A1,A1R,RR		0.0606,0.0469,0.0559				7,12509				SO:0001589	frameshift_variant	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14346299_14346300insC	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.2617dupC	16.37:g.14346306_14346306dupC	ENSP00000345841:p.Pro871fs		Somatic				MKL2_ENST00000574045.1_Frame_Shift_Ins_p.DP831fs|MKL2_ENST00000341243.5_Frame_Shift_Ins_p.DP870fs|MKL2_ENST00000318282.5_Frame_Shift_Ins_p.DP831fs	p.DP881fs	NM_014048.3	NP_054767.3	WXS	Illumina GAIIx	Phase_I	Q9ULH7	MKL2_HUMAN			15	2815_2816	+			870					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Frame_Shift_Ins	INS	ENST00000341243.5	37	c.2643_2644insC																																																																																					0.564	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		7	80						7	80	---	---	---	---
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:14980694_14980695insC	ENST00000287667.7	+	28	3470_3471	c.3299_3300insC	c.(3298-3303)ttccccfs	p.FP1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCTTCCATTTCCCCCCACTGC	0.475																																						ENST00000287667.7																			0				endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						c.(3298-3300)tccfs		NODAL modulator 1																																				SO:0001589	frameshift_variant	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14980694_14980695insC	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.3305dupC	16.37:g.14980700_14980700dupC	ENSP00000287667:p.Phe1100fs		Somatic					p.S1100fs	NM_014287.3	NP_055102.3	WXS	Illumina GAIIx	Phase_I	Q15155	NOMO1_HUMAN			28	3470_3471	+			1100					P78421|Q8IW21|Q96DG0	Frame_Shift_Ins	INS	ENST00000287667.7	37	c.3299_3300insC	CCDS10556.1																																																																																				0.475	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			14	997						14	997	---	---	---	---
ACSM2B	348158	broad.mit.edu	37	16	20556547	20556548	+	Frame_Shift_Ins	INS	-	-	G	rs367747928|rs146499503		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:20556547_20556548insG	ENST00000329697.6	-	10	1380_1381	c.1212_1213insC	c.(1210-1215)cccggcfs	p.G405fs	ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.G405fs|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.G405fs|ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.G326fs	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	405					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CCTTCTGTGCCGGGGGGCAGGA	0.515																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(1210-1215)ccgcacfs		acyl-CoA synthetase medium-chain family member 2B																																				SO:0001589	frameshift_variant	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20556547_20556548insG	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1213dupC	16.37:g.20556553_20556553dupG	ENSP00000327453:p.Gly405fs		Somatic				ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs	p.H405fs	NM_001105069.1	NP_001098539.1	WXS	Illumina GAIIx	Phase_I	Q68CK6	ACS2B_HUMAN			10	1380_1381	-			405					Q86YT1	Frame_Shift_Ins	INS	ENST00000329697.6	37	c.1212_1213insC	CCDS10586.1																																																																																				0.515	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		7	390						7	390	---	---	---	---
RABEP2	79874	broad.mit.edu	37	16	28919982	28919983	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:28919982_28919983insG	ENST00000358201.4	-	8	1780_1781	c.1192_1193insC	c.(1192-1194)cagfs	p.Q398fs	RABEP2_ENST00000357573.6_Frame_Shift_Ins_p.Q366fs|RABEP2_ENST00000544477.1_Frame_Shift_Ins_p.Q327fs	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	398					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CTGCGAGCCCTGGGGGGCTGAG	0.644																																					Pancreas(66;639 1284 10093 31061 49099)	ENST00000358201.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						c.(1192-1194)gggfs		rabaptin, RAB GTPase binding effector protein 2																																				SO:0001589	frameshift_variant	79874				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	g.chr16:28919982_28919983insG	AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.1193dupC	16.37:g.28919988_28919988dupG	ENSP00000350934:p.Gln398fs		Somatic				RABEP2_ENST00000357573.6_Frame_Shift_Ins_p.G366fs|RABEP2_ENST00000544477.1_Frame_Shift_Ins_p.G327fs	p.G398fs	NM_024816.2	NP_079092.2	WXS	Illumina GAIIx	Phase_I	Q9H5N1	RABE2_HUMAN			8	1780_1781	-			398						Frame_Shift_Ins	INS	ENST00000358201.4	37	c.1192_1193insC	CCDS42140.1																																																																																				0.644	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		8	114						8	114	---	---	---	---
TBX6	6911	broad.mit.edu	37	16	30100077	30100078	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:30100077_30100078insC	ENST00000395224.2	-	5	763_764	c.704_705insG	c.(703-705)ggcfs	p.G235fs	TBX6_ENST00000553607.1_Frame_Shift_Ins_p.G235fs|TBX6_ENST00000279386.2_Frame_Shift_Ins_p.G235fs	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	235					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						AGGAGGCCATGCCCCCCCAGTG	0.629																																						ENST00000553607.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						c.(703-705)gatfs		T-box 6																																				SO:0001589	frameshift_variant	6911				anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:30100077_30100078insC	AJ007989	CCDS10670.1	16p11.2	2008-02-05			ENSG00000149922	ENSG00000149922		"""T-boxes"""	11605	protein-coding gene	gene with protein product		602427				9888994, 9933572	Standard	NM_004608		Approved		uc010veh.2	O95947	OTTHUMG00000132115	ENST00000395224.2:c.705dupG	16.37:g.30100084_30100084dupC	ENSP00000378650:p.Gly235fs		Somatic				TBX6_ENST00000279386.2_Frame_Shift_Ins_p.D235fs|TBX6_ENST00000395224.2_Frame_Shift_Ins_p.D235fs	p.D235fs			WXS	Illumina GAIIx	Phase_I	O95947	TBX6_HUMAN			4	1397_1398	-			235					Q8TAS4|Q9HA44	Frame_Shift_Ins	INS	ENST00000395224.2	37	c.704_705insG	CCDS10670.1																																																																																				0.629	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2	NM_004608, NM_080758		8	93						8	93	---	---	---	---
ITGAL	3683	broad.mit.edu	37	16	30531243	30531244	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:30531243_30531244insG	ENST00000356798.6	+	30	3474_3475	c.3294_3295insG	c.(3295-3297)gggfs	p.G1099fs	ITGAL_ENST00000358164.5_Frame_Shift_Ins_p.G1015fs|ITGAL_ENST00000433423.2_Frame_Shift_Ins_p.G333fs	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1099					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TGAGCGGCATCGGGGGGCTGCT	0.599																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(3292-3297)atggggfs		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)																																			SO:0001589	frameshift_variant	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30531243_30531244insG		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.3300dupG	16.37:g.30531249_30531249dupG	ENSP00000349252:p.Gly1099fs		Somatic				ITGAL_ENST00000433423.2_Frame_Shift_Ins_p.MG332fs|ITGAL_ENST00000358164.5_Frame_Shift_Ins_p.MG1014fs	p.MG1098fs	NM_002209.2	NP_002200.2	WXS	Illumina GAIIx	Phase_I	P20701	ITAL_HUMAN			30	3474_3475	+			1098					O43746|Q45H73|Q96HB1|Q9UBC8	Frame_Shift_Ins	INS	ENST00000356798.6	37	c.3294_3295insG	CCDS32433.1																																																																																				0.599	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			7	367						7	367	---	---	---	---
CES1	1066	broad.mit.edu	37	16	55857568	55857569	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:55857568_55857569insC	ENST00000361503.4	-	4	559_560	c.429_430insG	c.(427-432)gggctgfs	p.L144fs	CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Frame_Shift_Ins_p.L145fs|CES1_ENST00000422046.2_Frame_Shift_Ins_p.L144fs			P23141	EST1_HUMAN	carboxylesterase 1	144					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	CCCACCATCAGCCCCCCTCCGT	0.559																																					NSCLC(162;1801 2756 42904 52896)	ENST00000422046.2																			0											c.(427-432)ggtgatfs		carboxylesterase 1	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)																																			SO:0001589	frameshift_variant	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55857568_55857569insC	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.430dupG	16.37:g.55857574_55857574dupC	ENSP00000355193:p.Leu144fs		Somatic				CES1_ENST00000361503.4_Frame_Shift_Ins_p.D144fs|CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Frame_Shift_Ins_p.D145fs	p.D144fs			WXS	Illumina GAIIx	Phase_I	P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	4	710_711	-			144					A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Frame_Shift_Ins	INS	ENST00000361503.4	37	c.429_430insG	CCDS45488.1																																																																																				0.559	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		10	779						10	779	---	---	---	---
C16orf70	80262	broad.mit.edu	37	16	67180988	67180989	+	Frame_Shift_Ins	INS	-	-	C	rs539297455	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:67180988_67180989insC	ENST00000219139.3	+	16	1411_1412	c.1223_1224insC	c.(1222-1227)ggccccfs	p.GP408fs	C16orf70_ENST00000569600.1_Frame_Shift_Ins_p.GP408fs	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	408								p.R411fs*4(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ACCCTGTATGGCCCCCCCAGGC	0.594													CCCCCCT|CCCCCCC|CCCCCCCC|complex_insertion	5	0.000998403	0.0008	0.0029	5008	,	,		22846	0.0		0.0	False		,,,				2504	0.002					ENST00000219139.3																			1	Insertion - Frameshift(1)	p.R411fs*4(1)	ovary(1)	cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17						c.(1222-1224)gccfs		chromosome 16 open reading frame 70																																				SO:0001589	frameshift_variant	80262							g.chr16:67180988_67180989insC	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.1230dupC	16.37:g.67180995_67180995dupC	ENSP00000219139:p.Gly408fs		Somatic				C16orf70_ENST00000569600.1_Frame_Shift_Ins_p.A408fs	p.A408fs	NM_025187.3	NP_079463.2	WXS	Illumina GAIIx	Phase_I	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	16	1411_1412	+		Ovarian(137;0.192)	408					Q9HA86	Frame_Shift_Ins	INS	ENST00000219139.3	37	c.1223_1224insC	CCDS10828.1																																																																																				0.594	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		25	283						25	283	---	---	---	---
SLC9A5	6553	broad.mit.edu	37	16	67290903	67290904	+	Frame_Shift_Ins	INS	-	-	G	rs35182421		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:67290903_67290904insG	ENST00000299798.11	+	7	1287_1288	c.1222_1223insG	c.(1222-1224)cggfs	p.R408fs		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	408					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.R408W(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TGGGGGCCTGCGGGGGGCTGTG	0.559																																						ENST00000299798.11																			1	Substitution - Missense(1)	p.R408W(1)	kidney(1)	breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(1222-1224)gggfs		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5																																				SO:0001589	frameshift_variant	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67290903_67290904insG		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1228dupG	16.37:g.67290909_67290909dupG	ENSP00000299798:p.Arg408fs		Somatic					p.G408fs	NM_004594.2	NP_004585.1	WXS	Illumina GAIIx	Phase_I	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	7	1287_1288	+		Ovarian(137;0.0563)	408					A5PKY7|Q9Y626	Frame_Shift_Ins	INS	ENST00000299798.11	37	c.1222_1223insG	CCDS42178.1																																																																																				0.559	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			11	230						11	230	---	---	---	---
CDH1	999	broad.mit.edu	37	16	68835780	68835781	+	Frame_Shift_Ins	INS	-	-	C	rs115418995		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:68835780_68835781insC	ENST00000261769.5	+	3	562_563	c.371_372insC	c.(370-375)cgccccfs	p.RP124fs	CDH1_ENST00000422392.2_Frame_Shift_Ins_p.RP124fs|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	124					adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(2)|p.P126fs*89(1)|p.P127fs*41(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CACCACCACCGCCCCCCGCCCC	0.5			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													ENST00000261769.5			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""Mis, N, F, S"""	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	"""lobular breast, gastric"""		4	Unknown(2)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.?(2)|p.P126fs*89(1)|p.P127fs*41(1)	breast(4)	NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311						c.(370-372)cccfs		cadherin 1, type 1, E-cadherin (epithelial)																																				SO:0001589	frameshift_variant	999	Hereditary Diffuse Gastric Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68835780_68835781insC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.377dupC	16.37:g.68835786_68835786dupC	ENSP00000261769:p.Arg124fs		Somatic				CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Frame_Shift_Ins_p.P124fs	p.P124fs	NM_004360.3	NP_004351.1	WXS	Illumina GAIIx	Phase_I	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	3	562_563	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	124					A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Frame_Shift_Ins	INS	ENST00000261769.5	37	c.371_372insC	CCDS10869.1																																																																																				0.500	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		9	398						9	398	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72991757	72991758	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:72991757_72991758insC	ENST00000268489.5	-	2	2959_2960	c.2287_2288insG	c.(2287-2289)gagfs	p.E763fs	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	763					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GAAGACCTGCTCCCCCCCTCCA	0.624																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(2287-2289)gcafs		zinc finger homeobox 3																																				SO:0001589	frameshift_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991757_72991758insC	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2288dupG	16.37:g.72991764_72991764dupC	ENSP00000268489:p.Glu763fs		Somatic				ZFHX3_ENST00000397992.5_Intron	p.A763fs	NM_006885.3	NP_008816.3	WXS	Illumina GAIIx	Phase_I	Q15911	ZFHX3_HUMAN			2	2959_2960	-		Ovarian(137;0.13)	763					D3DWS8|O15101|Q13719	Frame_Shift_Ins	INS	ENST00000268489.5	37	c.2287_2288insG	CCDS10908.1																																																																																				0.624	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		16	384						16	384	---	---	---	---
NUDT7	283927	broad.mit.edu	37	16	77775743	77775744	+	Frame_Shift_Ins	INS	-	-	A	rs528673952|rs201164809	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:77775743_77775744insA	ENST00000268533.5	+	4	682_683	c.613_614insA	c.(613-615)gaafs	p.E205fs	RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000437314.3_Frame_Shift_Ins_p.E152fs|NUDT7_ENST00000564031.1_3'UTR|NUDT7_ENST00000564085.1_3'UTR	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	205					acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						TATCATTTTGGAAAAAAAACCC	0.381													AAAAAAAA|AAAAAAAA|AAAAAAAAA|insertion	11	0.00219649	0.0	0.0	5008	,	,		18557	0.0		0.0	False		,,,				2504	0.0112					ENST00000268533.5																			0				breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						c.(613-615)aaafs		nudix (nucleoside diphosphate linked moiety X)-type motif 7																																				SO:0001589	frameshift_variant	283927				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding	g.chr16:77775743_77775744insA	AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"""Nudix motif containing"""	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.621dupA	16.37:g.77775751_77775751dupA	ENSP00000268533:p.Glu205fs		Somatic				NUDT7_ENST00000437314.3_Frame_Shift_Ins_p.K152fs|RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000564031.1_3'UTR|NUDT7_ENST00000564085.1_3'UTR	p.K205fs	NM_001105663.2	NP_001099133.1	WXS	Illumina GAIIx	Phase_I	P0C024	NUDT7_HUMAN			4	682_683	+			205					B4DLE5|H3BUB8	Frame_Shift_Ins	INS	ENST00000268533.5	37	c.613_614insA	CCDS42195.1																																																																																				0.381	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433873.1			7	417						7	417	---	---	---	---
PAFAH1B1	5048	broad.mit.edu	37	17	2583499	2583500	+	Frame_Shift_Ins	INS	-	-	G	rs113994201|rs113994200		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:2583499_2583500insG	ENST00000397195.5	+	10	1495_1496	c.1044_1045insG	c.(1045-1047)gggfs	p.G349fs	PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.G144fs|PAFAH1B1_ENST00000572915.2_Intron|RN7SL608P_ENST00000492377.2_RNA	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TGTTCCATTCTGGGGGGAAGTT	0.401																																						ENST00000397195.5																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						c.(1042-1047)tcggggfs		platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)																																				SO:0001589	frameshift_variant	5048				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity	g.chr17:2583499_2583500insG	L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"""WD repeat domain containing"""	8574	protein-coding gene	gene with protein product	"""lissencephaly-1"""	601545	"""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)"", ""Miller-Dieker syndrome chromosome region"", ""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"""	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.1050dupG	17.37:g.2583505_2583505dupG	ENSP00000380378:p.Gly349fs		Somatic				PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.SG143fs|PAFAH1B1_ENST00000397193.3_3'UTR	p.SG348fs	NM_000430.3	NP_000421.1	WXS	Illumina GAIIx	Phase_I	P43034	LIS1_HUMAN			10	1495_1496	+			348			Interaction with dynein and dynactin.			Frame_Shift_Ins	INS	ENST00000397195.5	37	c.1044_1045insG	CCDS32528.1																																																																																				0.401	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437797.2	NM_000430		15	642						15	642	---	---	---	---
MED11	400569	broad.mit.edu	37	17	4638739	4638740	+	IGR	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:4638739_4638740insG	ENST00000293777.5	+	0	833				CXCL16_ENST00000574412.1_Frame_Shift_Ins_p.P141fs|CXCL16_ENST00000576153.1_5'UTR|CXCL16_ENST00000293778.6_Frame_Shift_Ins_p.P141fs	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11							mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			lung(2)|ovary(2)	4						CCTGAGAAATTGGGGGGCTGGT	0.55																																						ENST00000293778.6																			0				large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(421-423)catfs		chemokine (C-X-C motif) ligand 16																																				SO:0001628	intergenic_variant	58191				lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity	g.chr17:4638739_4638740insG	AF161414	CCDS32533.1	17p13.2	2007-07-30	2007-07-30			ENSG00000161920			32687	protein-coding gene	gene with protein product		612383	"""mediator of RNA polymerase II transcription, subunit 11 homolog (S. cerevisiae)"""			15175163, 12584197	Standard	NM_001001683		Approved	HSPC296, MGC88387	uc002fyp.3	Q9P086			17.37:g.4638745_4638745dupG			Somatic				CXCL16_ENST00000576153.1_5'UTR|CXCL16_ENST00000574412.1_Frame_Shift_Ins_p.H141fs	p.H141fs	NM_022059.2	NP_071342.2	WXS	Illumina GAIIx	Phase_I	Q9H2A7	CXL16_HUMAN			4	844_845	-			122					Q6NS89	Frame_Shift_Ins	INS	ENST00000293777.5	37	c.422_423insC	CCDS32533.1																																																																																				0.550	MED11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439574.1	NM_001001683		8	590						8	590	---	---	---	---
ALOX12	239	broad.mit.edu	37	17	6903739	6903740	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:6903739_6903740insC	ENST00000251535.6	+	7	945_946	c.892_893insC	c.(892-894)gccfs	p.A298fs	AC027763.2_ENST00000575727.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000574377.1_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	582						7	582	---	---	---	---
EFNB3	1949	broad.mit.edu	37	17	7612855	7612856	+	Frame_Shift_Ins	INS	-	-	C	rs532773147	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:7612855_7612856insC	ENST00000226091.2	+	5	1381_1382	c.984_985insC	c.(985-987)cccfs	p.P329fs		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	329					adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGCAGGATGGGCCCCCCCAGAG	0.574																																						ENST00000226091.2																			0				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(982-987)ggccccfs		ephrin-B3																																				SO:0001589	frameshift_variant	1949				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr17:7612855_7612856insC	U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"""Ephrins"""	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.991dupC	17.37:g.7612862_7612862dupC	ENSP00000226091:p.Pro329fs		Somatic					p.GP328fs	NM_001406.3	NP_001397.1	WXS	Illumina GAIIx	Phase_I	Q15768	EFNB3_HUMAN			5	1381_1382	+		all_cancers(10;1.14e-06)|Prostate(122;0.081)	328					B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Frame_Shift_Ins	INS	ENST00000226091.2	37	c.984_985insC	CCDS11120.1																																																																																				0.574	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406		8	146						8	146	---	---	---	---
ARHGEF15	22899	broad.mit.edu	37	17	8222137	8222138	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:8222137_8222138insG	ENST00000361926.3	+	12	2052_2053	c.1942_1943insG	c.(1942-1944)aggfs	p.R648fs	ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.R648fs|ARHGEF15_ENST00000582060.1_3'UTR|AC135178.7_ENST00000458568.1_RNA	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	648					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						AGGGTGCCGGAGGGGGGGCGTG	0.634																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1942-1944)gggfs		Rho guanine nucleotide exchange factor (GEF) 15																																				SO:0001589	frameshift_variant	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8222137_8222138insG	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1949dupG	17.37:g.8222144_8222144dupG	ENSP00000355026:p.Arg648fs		Somatic				ARHGEF15_ENST00000582060.1_3'UTR|ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.G648fs	p.G648fs	NM_173728.3	NP_776089.2	WXS	Illumina GAIIx	Phase_I	O94989	ARHGF_HUMAN			12	2052_2053	+			648					A8K6G1|Q8N449|Q9H8B4	Frame_Shift_Ins	INS	ENST00000361926.3	37	c.1942_1943insG	CCDS11139.1																																																																																				0.634	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		12	140						12	140	---	---	---	---
PMP22	5376	broad.mit.edu	37	17	15142825	15142826	+	Frame_Shift_Ins	INS	-	-	C	rs80338763		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:15142825_15142826insC	ENST00000395938.2	-	4	475_476	c.281_282insG	c.(280-282)ggcfs	p.G94fs	PMP22_ENST00000426385.3_Frame_Shift_Ins_p.G94fs|PMP22_ENST00000494511.1_Frame_Shift_Ins_p.Q35fs|PMP22_ENST00000395936.1_Frame_Shift_Ins_p.G94fs|PMP22_ENST00000312280.3_Frame_Shift_Ins_p.G94fs|snoU13_ENST00000458745.1_RNA	NM_001281455.1|NM_153321.1	NP_001268384.1|NP_696996.1	Q01453	PMP22_HUMAN	peripheral myelin protein 22	94					cell death (GO:0008219)|peripheral nervous system development (GO:0007422)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		TGTAAAACCTGCCCCCCTTGGT	0.5																																						ENST00000395938.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8	GRCh37	CD973137|CI972675	PMP22	D|I	rs80338763	c.(280-282)gagfs		peripheral myelin protein 22																																				SO:0001589	frameshift_variant	5376				peripheral nervous system development|synaptic transmission	integral to membrane		g.chr17:15142825_15142826insC	D11428	CCDS11168.1	17p12	2014-09-17			ENSG00000109099	ENSG00000109099			9118	protein-coding gene	gene with protein product		601097				8482547, 1497668	Standard	NM_001281456		Approved	HNPP, GAS-3, Sp110	uc002goj.3	Q01453	OTTHUMG00000058960	ENST00000395938.2:c.282dupG	17.37:g.15142831_15142831dupC	ENSP00000379269:p.Gly94fs		Somatic				PMP22_ENST00000312280.3_Frame_Shift_Ins_p.E94fs|PMP22_ENST00000426385.3_Frame_Shift_Ins_p.E94fs|PMP22_ENST00000395936.1_Frame_Shift_Ins_p.E94fs|PMP22_ENST00000494511.1_Frame_Shift_Ins_p.G35fs	p.E94fs	NM_153321.1	NP_696996.1	WXS	Illumina GAIIx	Phase_I	Q01453	PMP22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)	4	475_476	-			94					Q8WV01	Frame_Shift_Ins	INS	ENST00000395938.2	37	c.281_282insG	CCDS11168.1																																																																																				0.500	PMP22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130378.1	NM_000304		7	626						7	626	---	---	---	---
FAM83G	644815	broad.mit.edu	37	17	18881020	18881021	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:18881020_18881021insTC	ENST00000388995.6	-	5	2181_2182	c.1958_1959insGA	c.(1957-1959)catfs	p.H653fs	SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Frame_Shift_Ins_p.H653fs|FAM83G_ENST00000585154.2_Frame_Shift_Ins_p.H653fs|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	653					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CTCGGGTTATATGGGGGGCACT	0.644																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(1957-1959)catfs		family with sequence similarity 83, member G																																				SO:0001589	frameshift_variant	644815							g.chr17:18881020_18881021insTC	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1958_1959insGA	17.37:g.18881020_18881021insTC	ENSP00000373647:p.His653fs		Somatic				SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Frame_Shift_Ins_p.H653fs|FAM83G_ENST00000345041.4_Frame_Shift_Ins_p.H653fs|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron	p.H653fs			WXS	Illumina GAIIx	Phase_I	A6ND36	FA83G_HUMAN			5	2181_2182	-			653					Q3KQZ4|Q6ZW60	Frame_Shift_Ins	INS	ENST00000388995.6	37	c.1958_1959insGA	CCDS42276.1																																																																																				0.644	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			7	5						7	5	---	---	---	---
KIAA0100	9703	broad.mit.edu	37	17	26962586	26962587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:26962586_26962587insG	ENST00000528896.2	-	16	2092_2093	c.2018_2019insC	c.(2017-2019)ccafs	p.P673fs	RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Frame_Shift_Ins_p.P530fs|KIAA0100_ENST00000389003.3_Frame_Shift_Ins_p.P530fs|RP11-192H23.7_ENST00000583787.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	673						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					ACATGTGATCTGGGGGGCTCCA	0.505																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(2017-2019)cgafs		KIAA0100																																				SO:0001589	frameshift_variant	9703					extracellular region		g.chr17:26962586_26962587insG	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2019dupC	17.37:g.26962592_26962592dupG	ENSP00000436773:p.Pro673fs		Somatic				KIAA0100_ENST00000544884.1_Frame_Shift_Ins_p.R530fs|KIAA0100_ENST00000389003.3_Frame_Shift_Ins_p.R530fs|RP11-192H23.7_ENST00000577814.1_RNA	p.R673fs	NM_014680.3	NP_055495.2	WXS	Illumina GAIIx	Phase_I	Q14667	K0100_HUMAN			16	2092_2093	-	Lung NSC(42;0.00431)		673					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Frame_Shift_Ins	INS	ENST00000528896.2	37	c.2018_2019insC	CCDS32595.1																																																																																				0.505	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		13	915						13	915	---	---	---	---
PHF12	57649	broad.mit.edu	37	17	27244345	27244346	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:27244345_27244346insG	ENST00000332830.4	-	7	1901_1902	c.1091_1092insC	c.(1090-1092)cctfs	p.P364fs	PHF12_ENST00000577226.1_Frame_Shift_Ins_p.P364fs|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Frame_Shift_Ins_p.P364fs	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CACGCCGGTTAGGGGGGTGCTT	0.53																																						ENST00000577226.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(1090-1092)caafs		PHD finger protein 12																																				SO:0001589	frameshift_variant	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27244345_27244346insG	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.1092dupC	17.37:g.27244351_27244351dupG	ENSP00000329933:p.Pro364fs		Somatic				PHF12_ENST00000332830.4_Frame_Shift_Ins_p.Q364fs|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Frame_Shift_Ins_p.Q364fs	p.Q364fs			WXS	Illumina GAIIx	Phase_I	Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		7	1437_1438	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		364			Interaction with SIN3A.			Frame_Shift_Ins	INS	ENST00000332830.4	37	c.1091_1092insC	CCDS32598.1																																																																																				0.530	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		11	889						11	889	---	---	---	---
BLMH	642	broad.mit.edu	37	17	28618354	28618355	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:28618354_28618355insT	ENST00000261714.6	-	2	359_360	c.185_186insA	c.(184-186)aagfs	p.K62fs	BLMH_ENST00000394819.3_Frame_Shift_Ins_p.S12fs	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	62					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	TGGTGATTGGCTTGCCCTCCTG	0.579																																					Pancreas(127;628 1772 12912 33293 36203)	ENST00000261714.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						c.(184-186)accfs		bleomycin hydrolase																																				SO:0001589	frameshift_variant	642				proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding	g.chr17:28618354_28618355insT	X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.186dupA	17.37:g.28618356_28618356dupT	ENSP00000261714:p.Lys62fs		Somatic				BLMH_ENST00000394819.3_Frame_Shift_Ins_p.P12fs	p.T62fs	NM_000386.3	NP_000377.1	WXS	Illumina GAIIx	Phase_I	Q13867	BLMH_HUMAN			2	359_360	-			62					B2R796|Q53F86|Q9UER9	Frame_Shift_Ins	INS	ENST00000261714.6	37	c.185_186insA	CCDS32604.1																																																																																				0.579	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447940.1	NM_000386		11	1271						11	1271	---	---	---	---
RAB11FIP4	84440	broad.mit.edu	37	17	29758897	29758898	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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		12	91						12	91	---	---	---	---
LIG3	3980	broad.mit.edu	37	17	33318739	33318740	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:33318739_33318740insC	ENST00000378526.4	+	6	1224_1225	c.1091_1092insC	c.(1090-1095)ttccccfs	p.FP364fs	LIG3_ENST00000262327.5_Frame_Shift_Ins_p.FP364fs	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	364					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	AGCAAGTCTTTCCCCCCAGCTG	0.545								Other BER factors																														ENST00000378526.4																			0				endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31						c.(1090-1092)tccfs	Other BER factors	ligase III, DNA, ATP-dependent	Bleomycin(DB00290)																																			SO:0001589	frameshift_variant	3980				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	g.chr17:33318739_33318740insC		CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.1097dupC	17.37:g.33318745_33318745dupC	ENSP00000367787:p.Phe364fs		Somatic				LIG3_ENST00000262327.5_Frame_Shift_Ins_p.S364fs	p.S364fs	NM_013975.3	NP_039269.2	WXS	Illumina GAIIx	Phase_I	P49916	DNLI3_HUMAN			6	1224_1225	+		Ovarian(249;0.17)	364					Q16714|Q6NVK3	Frame_Shift_Ins	INS	ENST00000378526.4	37	c.1091_1092insC	CCDS11284.2																																																																																				0.545	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975		11	1127						11	1127	---	---	---	---
GAS2L2	246176	broad.mit.edu	37	17	34074256	34074257	+	Frame_Shift_Ins	INS	-	-	G	rs139867246	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:34074256_34074257insG	ENST00000254466.6	-	5	890_891	c.863_864insC	c.(862-864)ccgfs	p.P288fs	GAS2L2_ENST00000587565.1_Frame_Shift_Ins_p.P272fs	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	288					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGGTGGGGCCGGGGGCTTCAG	0.599																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(862-864)cgcfs		growth arrest-specific 2 like 2																																				SO:0001589	frameshift_variant	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34074256_34074257insG	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.864dupC	17.37:g.34074261_34074261dupG	ENSP00000254466:p.Pro288fs		Somatic				GAS2L2_ENST00000587565.1_Frame_Shift_Ins_p.R272fs	p.R288fs	NM_139285.3	NP_644814.1	WXS	Illumina GAIIx	Phase_I	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	5	890_891	-		Ovarian(249;0.17)	288					Q8NHY4	Frame_Shift_Ins	INS	ENST00000254466.6	37	c.863_864insC	CCDS11298.1																																																																																				0.599	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		8	219						8	219	---	---	---	---
IKZF3	22806	broad.mit.edu	37	17	37922280	37922281	+	Frame_Shift_Ins	INS	-	-	A	rs114183106|rs371505659		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:37922280_37922281insA	ENST00000346872.3	-	8	1353_1354	c.1292_1293insT	c.(1291-1293)ccgfs	p.P431fs	IKZF3_ENST00000350532.3_Frame_Shift_Ins_p.P392fs|IKZF3_ENST00000377958.2_Frame_Shift_Ins_p.P344fs|IKZF3_ENST00000351680.3_Frame_Shift_Ins_p.P392fs|IKZF3_ENST00000346243.3_Frame_Shift_Ins_p.P353fs|IKZF3_ENST00000394189.2_Frame_Shift_Ins_p.P249fs|IKZF3_ENST00000439016.2_Frame_Shift_Ins_p.P336fs|IKZF3_ENST00000377952.2_Frame_Shift_Ins_p.P210fs|IKZF3_ENST00000535189.1_Frame_Shift_Ins_p.P397fs|IKZF3_ENST00000377944.3_Frame_Shift_Ins_p.P288fs|RP11-94L15.2_ENST00000488188.2_lincRNA|IKZF3_ENST00000377945.3_Frame_Shift_Ins_p.P297fs|IKZF3_ENST00000467757.1_Frame_Shift_Ins_p.P375fs|IKZF3_ENST00000583368.1_Frame_Shift_Ins_p.P184fs|IKZF3_ENST00000439167.2_Frame_Shift_Ins_p.P358fs	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	431					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGCAGATGGGCGGGGGCTTGAG	0.55																																						ENST00000346872.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1291-1293)cccfs		IKAROS family zinc finger 3 (Aiolos)																																				SO:0001589	frameshift_variant	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37922280_37922281insA	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.1292_1293insT	17.37:g.37922280_37922281insA	ENSP00000344544:p.Pro431fs		Somatic				IKZF3_ENST00000467757.1_Frame_Shift_Ins_p.P375fs|IKZF3_ENST00000439167.2_Frame_Shift_Ins_p.P358fs|IKZF3_ENST00000439016.2_Frame_Shift_Ins_p.P336fs|IKZF3_ENST00000394189.2_Frame_Shift_Ins_p.P249fs|IKZF3_ENST00000377958.2_Frame_Shift_Ins_p.P344fs|IKZF3_ENST00000350532.3_Frame_Shift_Ins_p.P392fs|IKZF3_ENST00000346243.3_Frame_Shift_Ins_p.P353fs|IKZF3_ENST00000377944.3_Frame_Shift_Ins_p.P288fs|IKZF3_ENST00000377945.3_Frame_Shift_Ins_p.P297fs|IKZF3_ENST00000377952.2_Frame_Shift_Ins_p.P210fs|IKZF3_ENST00000583368.1_Frame_Shift_Ins_p.P184fs|IKZF3_ENST00000535189.1_Frame_Shift_Ins_p.P397fs|IKZF3_ENST00000351680.3_Frame_Shift_Ins_p.P392fs	p.P431fs	NM_012481.4	NP_036613.2	WXS	Illumina GAIIx	Phase_I	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		8	1353_1354	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		431					B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Frame_Shift_Ins	INS	ENST00000346872.3	37	c.1292_1293insT	CCDS11346.1																																																																																				0.550	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		8	351						8	351	---	---	---	---
KRT26	353288	broad.mit.edu	37	17	38926341	38926342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:38926341_38926342insC	ENST00000335552.4	-	4	762_763	c.714_715insG	c.(712-717)gggaacfs	p.N239fs		NM_181539.4	NP_853517.2			keratin 26											central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				ACGTTCACGTTCCCCCCAGCTG	0.48																																						ENST00000335552.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16						c.(712-717)ggacgtfs		keratin 26																																				SO:0001589	frameshift_variant	353288					intermediate filament	structural molecule activity	g.chr17:38926341_38926342insC	AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30840	protein-coding gene	gene with protein product			"""keratin 25B"""	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.715dupG	17.37:g.38926347_38926347dupC	ENSP00000334798:p.Asn239fs		Somatic					p.R239fs	NM_181539.4	NP_853517.2	WXS	Illumina GAIIx	Phase_I	Q7Z3Y9	K1C26_HUMAN			4	762_763	-		Breast(137;0.00526)	239			Linker 12.|Rod.			Frame_Shift_Ins	INS	ENST00000335552.4	37	c.714_715insG	CCDS11374.1																																																																																				0.480	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257215.1	NM_181539		7	128						7	128	---	---	---	---
GPATCH8	23131	broad.mit.edu	37	17	42478248	42478249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:42478248_42478249insG	ENST00000591680.1	-	8	1226_1227	c.1196_1197insC	c.(1195-1197)ccafs	p.P399fs	GPATCH8_ENST00000434000.1_Frame_Shift_Ins_p.P321fs	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	399							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGCAGTGTGCTGGGGGGATGTA	0.441											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(961-963)cgcfs		G patch domain containing 8																																				SO:0001589	frameshift_variant	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42478248_42478249insG	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.1197dupC	17.37:g.42478254_42478254dupG	ENSP00000467556:p.Pro399fs		Somatic	OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	909	GPATCH8_ENST00000591680.1_Frame_Shift_Ins_p.R399fs	p.R321fs			WXS	Illumina GAIIx	Phase_I	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	1244_1245	-		Prostate(33;0.0181)	399					B9EGP9|O60300|Q8TB99	Frame_Shift_Ins	INS	ENST00000591680.1	37	c.962_963insC	CCDS32666.1																																																																																				0.441	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		8	469						8	469	---	---	---	---
MRPL10	124995	broad.mit.edu	37	17	45905873	45905874	+	Frame_Shift_Ins	INS	-	-	G	rs147331240		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:45905873_45905874insG	ENST00000351111.2	-	2	220_221	c.215_216insC	c.(214-216)ccafs	p.P72fs	MRPL10_ENST00000290208.7_Frame_Shift_Ins_p.P82fs|MRPL10_ENST00000414011.1_Frame_Shift_Ins_p.P82fs	NM_145255.3	NP_660298.2	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	72					ribosome biogenesis (GO:0042254)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						TTACCTCCTGTGGGGGGCTGGG	0.525																																						ENST00000290208.7																			0				endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						c.(244-246)ccafs		mitochondrial ribosomal protein L10			,	0,4264		0,0,2132					,	-10.1	0.0			44	1,8253		0,1,4126	no	frameshift,frameshift	MRPL10	NM_148887.2,NM_145255.3	,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12517				SO:0001589	frameshift_variant	124995				ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr17:45905873_45905874insG	AB051618	CCDS11516.1, CCDS11517.1	17q21.3	2012-09-13			ENSG00000159111	ENSG00000159111		"""Mitochondrial ribosomal proteins / large subunits"""	14055	protein-coding gene	gene with protein product	"""39S ribosomal protein L10, mitochondrial"""	611825				11551941	Standard	NM_148887		Approved	RPML8, MRP-L8, L10MT, MRP-L10, MRPL8, MGC17973	uc002ily.3	Q7Z7H8	OTTHUMG00000156302	ENST00000351111.2:c.216dupC	17.37:g.45905879_45905879dupG	ENSP00000324100:p.Pro72fs		Somatic				MRPL10_ENST00000351111.2_Frame_Shift_Ins_p.P72fs|MRPL10_ENST00000414011.1_Frame_Shift_Ins_p.P82fs	p.P82fs			WXS	Illumina GAIIx	Phase_I	Q7Z7H8	RM10_HUMAN			2	697_698	-			72					A6NGJ4|Q96B80|Q96Q55	Frame_Shift_Ins	INS	ENST00000351111.2	37	c.245_246insC	CCDS11516.1																																																																																				0.525	MRPL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343764.1	NM_145255		7	297						7	297	---	---	---	---
CACNA1G	8913	broad.mit.edu	37	17	48683537	48683539	+	Intron	DEL	AAA	AAA	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:48683537_48683539delAAA	ENST00000359106.5	+	23	4422				CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000416767.4_In_Frame_Del_p.K1526del|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000502264.1_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000354983.4_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000507336.1_Intron|CACNA1G_ENST00000513689.2_Intron	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit						axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGCATGTCGCAAAGCCCAGTCCA	0.571																																						ENST00000416767.4																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(4573-4578)gcg>gc		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)																																			SO:0001627	intron_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48683537_48683539delAAA	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4422+153AAA>-	17.37:g.48683537_48683539delAAA			Somatic				CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000502264.1_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000354983.4_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000507336.1_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000359106.5_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000512389.1_Intron	p.AK1525del			WXS	Illumina GAIIx	Phase_I	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		23	4603_4605	+	Breast(11;6.7e-17)		0					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	In_Frame_Del	DEL	ENST00000359106.5	37	c.4575_4577delAAA	CCDS45730.1																																																																																				0.571	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		16	33						16	33	---	---	---	---
MTMR4	9110	broad.mit.edu	37	17	56590245	56590246	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:56590245_56590246insG	ENST00000323456.5	-	3	184_185	c.60_61insC	c.(58-63)cccaagfs	p.K21fs	MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.K21fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	21					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.K21fs*20(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTAGTTCCTTGGGGGGGAACA	0.569																																						ENST00000323456.5																			1	Insertion - Frameshift(1)	p.K21fs*20(1)	large_intestine(1)	breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(58-63)ccaggafs		myotubularin related protein 4																																				SO:0001589	frameshift_variant	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56590245_56590246insG	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.61dupC	17.37:g.56590252_56590252dupG	ENSP00000325285:p.Lys21fs		Somatic				MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.G21fs	p.G21fs	NM_004687.4	NP_004678.3	WXS	Illumina GAIIx	Phase_I	Q9NYA4	MTMR4_HUMAN			3	184_185	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		21					D3DTZ6|Q8IV27|Q9Y4D5	Frame_Shift_Ins	INS	ENST00000323456.5	37	c.60_61insC	CCDS11608.1																																																																																				0.569	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		7	97						7	97	---	---	---	---
MARCH10	162333	broad.mit.edu	37	17	60814265	60814266	+	Frame_Shift_Ins	INS	-	-	C	rs372503255		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:60814265_60814266insC	ENST00000311269.5	-	6	1237_1238	c.963_964insG	c.(961-966)gggacafs	p.T322fs	MARCH10_ENST00000544856.2_Frame_Shift_Ins_p.T321fs|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.T322fs|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.T360fs|RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000577270.1_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|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.I322fs	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		11	904						11	904	---	---	---	---
PSMC5	5705	broad.mit.edu	37	17	61908770	61908771	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:61908770_61908771insC	ENST00000310144.6	+	9	1262_1263	c.954_955insC	c.(955-957)cccfs	p.P319fs	FTSJ3_ENST00000580295.1_5'Flank|PSMC5_ENST00000375812.4_Frame_Shift_Ins_p.P311fs|PSMC5_ENST00000580864.1_Frame_Shift_Ins_p.P311fs|PSMC5_ENST00000581882.1_Frame_Shift_Ins_p.P311fs	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	319	May mediate interaction with PRPF9. {ECO:0000250|UniProtKB:P62196}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						TTGAATTCCCACCCCCCAATGA	0.545																																						ENST00000310144.6																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(952-957)ccccccfs		proteasome (prosome, macropain) 26S subunit, ATPase, 5																																				SO:0001589	frameshift_variant	5705				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding	g.chr17:61908770_61908771insC	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.960dupC	17.37:g.61908776_61908776dupC	ENSP00000310572:p.Pro319fs		Somatic				PSMC5_ENST00000580864.1_Frame_Shift_Ins_p.PP310fs|PSMC5_ENST00000375812.4_Frame_Shift_Ins_p.PP310fs|PSMC5_ENST00000581882.1_Frame_Shift_Ins_p.PP310fs	p.PP318fs	NM_002805.5	NP_002796.4	WXS	Illumina GAIIx	Phase_I	P62195	PRS8_HUMAN			9	1262_1263	+			318					A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Frame_Shift_Ins	INS	ENST00000310144.6	37	c.954_955insC	CCDS11645.1																																																																																				0.545	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		20	640						20	640	---	---	---	---
CSHL1	1444	broad.mit.edu	37	17	61987865	61987866	+	Frame_Shift_Ins	INS	-	-	CCCA			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:61987865_61987866insCCCA	ENST00000309894.5	-	3	219_220	c.220_221insTGGG	c.(220-222)tcafs	p.S74fs	CSHL1_ENST00000392824.4_Frame_Shift_Ins_p.H144fs|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000450719.3_5'UTR|CSHL1_ENST00000346606.6_5'UTR|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000259003.10_Intron	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	74						extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						ATGCAGGAATGAATACTTCTGT	0.505																																						ENST00000392824.4																			0				endometrium(3)|lung(6)	9						c.(427-432)atattcfs		chorionic somatomammotropin hormone-like 1																																				SO:0001589	frameshift_variant	1444					extracellular region	hormone activity|metal ion binding	g.chr17:61987865_61987866insCCCA	BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"""chorionic somatomammotropin CS-5"""	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.220_221insTGGG	17.37:g.61987865_61987866insCCCA	ENSP00000309524:p.Ser74fs		Somatic				CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000309894.5_Frame_Shift_Ins_p.I74fs|CSHL1_ENST00000346606.6_5'UTR|CSHL1_ENST00000450719.3_5'UTR|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000558099.1_5'UTR	p.F144fs			WXS	Illumina GAIIx	Phase_I	Q14406	CSHL_HUMAN			2	490_491	-			0					D3DU26|D3DU27|Q0VDB2	Frame_Shift_Ins	INS	ENST00000309894.5	37	c.429_430insTGGG	CCDS11652.1																																																																																				0.505	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444557.1	NM_022579		145	157						145	157	---	---	---	---
AXIN2	8313	broad.mit.edu	37	17	63532584	63532585	+	Frame_Shift_Ins	INS	-	-	C	rs267606674		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:63532584_63532585insC	ENST00000375702.5	-	6	1907_1908	c.1799_1800insG	c.(1798-1800)ggcfs	p.G600fs	AXIN2_ENST00000307078.5_Frame_Shift_Ins_p.G665fs			Q9Y2T1	AXIN2_HUMAN	axin 2	640				Missing (in Ref. 2; AAF22799). {ECO:0000305}.	bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GCCCGCTGTTGCCCCCCCACAG	0.658									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													ENST00000307078.5																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34	GRCh37	CI002733	AXIN2	I		c.(1993-1995)gaafs		axin 2																																				SO:0001589	frameshift_variant	8313	Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63532584_63532585insC	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1800dupG	17.37:g.63532591_63532591dupC	ENSP00000364854:p.Gly600fs		Somatic				AXIN2_ENST00000375702.5_Frame_Shift_Ins_p.E600fs	p.E665fs	NM_004655.3	NP_004646.3	WXS	Illumina GAIIx	Phase_I	Q9Y2T1	AXIN2_HUMAN			8	2307_2308	-			665					Q3MJ88|Q9H3M6|Q9UH84	Frame_Shift_Ins	INS	ENST00000375702.5	37	c.1994_1995insG																																																																																					0.658	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		8	109						8	109	---	---	---	---
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G	rs200065915	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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		8	378						8	378	---	---	---	---
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:71223356_71223357insG	ENST00000403627.3	-	2	328_329	c.268_269insC	c.(268-270)cagfs	p.Q90fs	FAM104A_ENST00000405159.3_Frame_Shift_Ins_p.Q90fs|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000583178.1_5'UTR	NM_032837.2	NP_116226.2	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	90										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTTTTGGTCTGGGGGGGAAGA	0.416																																						ENST00000405159.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6						c.(268-270)gacfs		family with sequence similarity 104, member A																																				SO:0001589	frameshift_variant	84923							g.chr17:71223356_71223357insG	AK027681	CCDS11693.2, CCDS45766.1, CCDS74143.1, CCDS74144.1	17q25.1	2005-12-16			ENSG00000133193	ENSG00000133193			25918	protein-coding gene	gene with protein product							Standard	NM_032837		Approved	FLJ14775	uc002jjj.4	Q969W3	OTTHUMG00000150564	ENST00000403627.3:c.269dupC	17.37:g.71223363_71223363dupG	ENSP00000384648:p.Gln90fs		Somatic				FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000583178.1_5'UTR	p.D90fs	NM_001098832.1	NP_001092302.1	WXS	Illumina GAIIx	Phase_I	Q969W3	F104A_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		2	332_333	-			90					B4E339	Frame_Shift_Ins	INS	ENST00000403627.3	37	c.268_269insC	CCDS11693.2																																																																																				0.416	FAM104A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318935.1	NM_032837		21	532						21	532	---	---	---	---
MRPL38	64978	broad.mit.edu	37	17	73895694	73895695	+	Frame_Shift_Ins	INS	-	-	G	rs368094656		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:73895694_73895695insG	ENST00000309352.3	-	7	1308_1309	c.771_772insC	c.(769-774)cccttcfs	p.F258fs	MRPL38_ENST00000585475.1_5'Flank|MRPL38_ENST00000409963.3_Frame_Shift_Ins_p.F74fs|TRIM65_ENST00000269383.3_5'Flank|RP11-552F3.10_ENST00000587267.1_RNA	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	258						mitochondrion (GO:0005739)|ribosome (GO:0005840)				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGGCAGGGAAGGGGGGGAGGT	0.614																																						ENST00000309352.3																			0				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5						c.(769-774)cctcccfs		mitochondrial ribosomal protein L38				7,4253		0,7,2123						5.9	1.0			51	11,8241		0,11,4115	no	frameshift	MRPL38	NM_032478.3		0,18,6238	A1A1,A1R,RR		0.1333,0.1643,0.1439				18,12494				SO:0001589	frameshift_variant	64978					actin cytoskeleton|mitochondrion|ribosome		g.chr17:73895694_73895695insG	AB051345	CCDS11733.2	17q23-q25	2012-09-13			ENSG00000204316	ENSG00000204316		"""Mitochondrial ribosomal proteins / large subunits"""	14033	protein-coding gene	gene with protein product		611844				11543634	Standard	NM_032478		Approved	RPML3, MRP-L3, HSPC262, MGC4810	uc010wso.1	Q96DV4	OTTHUMG00000152977	ENST00000309352.3:c.772dupC	17.37:g.73895701_73895701dupG	ENSP00000308275:p.Phe258fs		Somatic				MRPL38_ENST00000409963.3_Frame_Shift_Ins_p.P74fs|RP11-552F3.10_ENST00000587267.1_RNA	p.P258fs	NM_032478.3	NP_115867.2	WXS	Illumina GAIIx	Phase_I	Q96DV4	RM38_HUMAN	all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)		7	1308_1309	-			258					B3KN96|Q96Q66|Q9P0B9	Frame_Shift_Ins	INS	ENST00000309352.3	37	c.771_772insC	CCDS11733.2																																																																																				0.614	MRPL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328829.1	NM_032478		3	5						3	5	---	---	---	---
UBE2O	63893	broad.mit.edu	37	17	74394437	74394440	+	Frame_Shift_Del	DEL	CACT	CACT	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:74394437_74394440delCACT	ENST00000319380.7	-	12	1985_1988	c.1921_1924delAGTG	c.(1921-1926)agtgttfs	p.SV641fs	UBE2O_ENST00000587581.1_5'UTR	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	641					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						ATGTCGTAAACACTCACATCTTCC	0.534											OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000319380.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1921-1926)ttfs		ubiquitin-conjugating enzyme E2O																																				SO:0001589	frameshift_variant	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74394437_74394440delCACT	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.1921_1924delAGTG	17.37:g.74394437_74394440delCACT	ENSP00000323687:p.Ser641fs		Somatic	OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1152	UBE2O_ENST00000587581.1_5'UTR	p.SV641fs	NM_022066.3	NP_071349.3	WXS	Illumina GAIIx	Phase_I	Q9C0C9	UBE2O_HUMAN			12	1985_1988	-			641					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Frame_Shift_Del	DEL	ENST00000319380.7	37	c.1921_1924delAGTG	CCDS32742.1																																																																																				0.534	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		7	290						7	290	---	---	---	---
MGAT5B	146664	broad.mit.edu	37	17	74936520	74936521	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:74936520_74936521insC	ENST00000569840.2	+	14	2195_2196	c.1621_1622insC	c.(1621-1623)gccfs	p.A541fs	MGAT5B_ENST00000301618.4_Frame_Shift_Ins_p.A539fs|MGAT5B_ENST00000428789.2_Frame_Shift_Ins_p.A550fs	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	541					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGAGGGCCCCGCCCCCCTGGAG	0.658																																						ENST00000569840.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1621-1623)cccfs		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B																																				SO:0001589	frameshift_variant	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74936520_74936521insC	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1627dupC	17.37:g.74936526_74936526dupC	ENSP00000456037:p.Ala541fs		Somatic				MGAT5B_ENST00000301618.4_Frame_Shift_Ins_p.P539fs|MGAT5B_ENST00000428789.2_Frame_Shift_Ins_p.P550fs	p.P541fs	NM_001199172.1	NP_001186101.1	WXS	Illumina GAIIx	Phase_I	Q3V5L5	MGT5B_HUMAN			14	2195_2196	+			541					Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Frame_Shift_Ins	INS	ENST00000569840.2	37	c.1621_1622insC	CCDS59299.1																																																																																				0.658	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		10	949						10	949	---	---	---	---
TNRC6C	57690	broad.mit.edu	37	17	76079156	76079157	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:76079156_76079157insA	ENST00000588061.1	+	13	4113_4114	c.3386_3387insA	c.(3385-3390)gcaaaafs	p.AK1129fs	TNRC6C_ENST00000588847.1_Frame_Shift_Ins_p.AK1126fs|TNRC6C_ENST00000301624.4_Frame_Shift_Ins_p.AK1129fs|TNRC6C_ENST00000541771.1_Frame_Shift_Ins_p.AK1129fs|TNRC6C_ENST00000335749.4_Frame_Shift_Ins_p.AK1126fs|TNRC6C_ENST00000544502.1_Frame_Shift_Ins_p.AK1126fs			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1129					embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|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)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CAGTTTGCAGCAAAAAACATTG	0.386																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(3376-3378)gaafs		trinucleotide repeat containing 6C																																				SO:0001589	frameshift_variant	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76079156_76079157insA	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.3392dupA	17.37:g.76079162_76079162dupA	ENSP00000468647:p.Ala1129fs		Somatic				TNRC6C_ENST00000588847.1_Frame_Shift_Ins_p.E1126fs|TNRC6C_ENST00000544502.1_Frame_Shift_Ins_p.E1126fs|TNRC6C_ENST00000301624.4_Frame_Shift_Ins_p.E1129fs|TNRC6C_ENST00000541771.1_Frame_Shift_Ins_p.E1129fs|TNRC6C_ENST00000588061.1_Frame_Shift_Ins_p.E1129fs	p.E1126fs	NM_001142640.1	NP_001136112.1	WXS	Illumina GAIIx	Phase_I	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		11	3946_3947	+			1129					G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Frame_Shift_Ins	INS	ENST00000588061.1	37	c.3377_3378insA	CCDS45798.1																																																																																				0.386	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		10	2478						10	2478	---	---	---	---
CYTH1	9267	broad.mit.edu	37	17	76677055	76677056	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr17:76677055_76677056insT	ENST00000446868.3	-	12	1030_1031	c.960_961insA	c.(958-963)aaaccafs	p.P321fs	CYTH1_ENST00000591455.1_Frame_Shift_Ins_p.P320fs|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000586175.1_5'UTR|CYTH1_ENST00000585509.1_Frame_Shift_Ins_p.P262fs|CYTH1_ENST00000589297.1_Frame_Shift_Ins_p.P262fs|CYTH1_ENST00000361101.4_Frame_Shift_Ins_p.P321fs			Q15438	CYH1_HUMAN	cytohesin 1	321	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						ATACTCACTGGTTTTTTGGAGT	0.396																																						ENST00000589297.1																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						c.(781-786)aacaaafs		cytohesin 1																																				SO:0001589	frameshift_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.chr17:76677055_76677056insT	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.961dupA	17.37:g.76677061_76677061dupT	ENSP00000389095:p.Pro321fs		Somatic				CYTH1_ENST00000446868.3_Frame_Shift_Ins_p.NK320fs|CYTH1_ENST00000361101.4_Frame_Shift_Ins_p.NK320fs|CYTH1_ENST00000585509.1_Frame_Shift_Ins_p.NK261fs|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000586175.1_5'UTR|CYTH1_ENST00000591455.1_Frame_Shift_Ins_p.NK319fs	p.NK261fs			WXS	Illumina GAIIx	Phase_I	Q15438	CYH1_HUMAN			12	1475_1476	-			320			PH.		A6NFW7|B7Z1T4|Q9P123|Q9P124	Frame_Shift_Ins	INS	ENST00000446868.3	37	c.783_784insA																																																																																					0.396	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317099.1	NM_004762		8	672						8	672	---	---	---	---
CEP192	55125	broad.mit.edu	37	18	13113612	13113613	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:13113612_13113613insG	ENST00000325971.8	+	39	6880_6881	c.5287_5288insG	c.(5287-5289)aggfs	p.R1763fs	CEP192_ENST00000430049.2_Frame_Shift_Ins_p.R1884fs|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000506447.1_Frame_Shift_Ins_p.R2359fs			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1763					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCCCAGAGGTAGGGGGGATTAT	0.426																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(7075-7077)gggfs		centrosomal protein 192kDa																																				SO:0001589	frameshift_variant	55125							g.chr18:13113612_13113613insG	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.5293dupG	18.37:g.13113618_13113618dupG	ENSP00000317156:p.Arg1763fs		Somatic				CEP192_ENST00000325971.8_Frame_Shift_Ins_p.G1763fs|CEP192_ENST00000430049.2_Frame_Shift_Ins_p.G1884fs|CEP192_ENST00000540847.2_3'UTR	p.G2359fs	NM_032142.3	NP_115518.3	WXS	Illumina GAIIx	Phase_I	B7ZMF0	B7ZMF0_HUMAN			41	7155_7156	+			1954					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Frame_Shift_Ins	INS	ENST00000325971.8	37	c.7075_7076insG																																																																																					0.426	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		12	1138						12	1138	---	---	---	---
GAREM	64762	broad.mit.edu	37	18	29867327	29867328	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:29867327_29867328insC	ENST00000269209.6	-	4	1235_1236	c.1232_1233insG	c.(1231-1233)ggafs	p.G411fs	GAREM_ENST00000399218.4_Frame_Shift_Ins_p.G411fs|RP11-344B2.2_ENST00000579580.1_RNA|GAREM_ENST00000578619.1_5'Flank			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	411					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										GAGCCCAATCTCCCCCCAGGTC	0.545																																						ENST00000399218.4																			0											c.(1231-1233)ggafs		GRB2 associated, regulator of MAPK1																																				SO:0001589	frameshift_variant	64762							g.chr18:29867327_29867328insC	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1233dupG	18.37:g.29867333_29867333dupC	ENSP00000269209:p.Gly411fs		Somatic				GAREM_ENST00000269209.6_Frame_Shift_Ins_p.G411fs	p.G411fs	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1	WXS	Illumina GAIIx	Phase_I					4	1287_1288	-								Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Frame_Shift_Ins	INS	ENST00000269209.6	37	c.1232_1233insG	CCDS56057.1																																																																																				0.545	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		18	791						18	791	---	---	---	---
ZNF397	84307	broad.mit.edu	37	18	32823300	32823301	+	Intron	INS	-	-	AG			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:32823300_32823301insAG	ENST00000330501.7	+	3	709				ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000591206.1_Frame_Shift_Ins_p.L201fs|ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000585800.1_Frame_Shift_Ins_p.L201fs|ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000261333.6_Intron	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397						transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						ACACTTAGGCCTCTGTTTTTGA	0.436																																						ENST00000585800.1																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						c.(598-600)cctfs		zinc finger protein 397																																				SO:0001627	intron_variant	84307				viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32823300_32823301insAG	BC006172	CCDS32814.1, CCDS45852.1	18p12	2013-01-09	2003-07-22			ENSG00000186812		"""-"", ""Zinc fingers, C2H2-type"""	18818	protein-coding gene	gene with protein product		609601	"""zinc finger protein 47"""	ZNF47			Standard	NM_032347		Approved	ZSCAN15, MGC13250	uc010dmp.3	Q8NF99		ENST00000330501.7:c.556+43->AG	18.37:g.32823300_32823301insAG			Somatic				ZNF397_ENST00000591206.1_Frame_Shift_Ins_p.P200fs|ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000330501.7_Intron|ZNF397_ENST00000261333.6_Intron	p.P200fs			WXS	Illumina GAIIx	Phase_I	Q8NF99	ZN397_HUMAN			3	1313_1314	+			0					Q9BRM2	Frame_Shift_Ins	INS	ENST00000330501.7	37	c.599_600insAG	CCDS45852.1																																																																																				0.436	ZNF397-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442398.1	NM_032347		14	100						14	100	---	---	---	---
EPG5	57724	broad.mit.edu	37	18	43460063	43460064	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:43460063_43460064delCA	ENST00000282041.5	-	32	5677_5678	c.5643_5644delTG	c.(5641-5646)tctgatfs	p.D1882fs	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1882					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AAGAGAGCATCAGAAGAGCTGG	0.554											OREG0024951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(5641-5646)tcatfs		ectopic P-granules autophagy protein 5 homolog (C. elegans)																																				SO:0001589	frameshift_variant	57724				autophagy			g.chr18:43460063_43460064delCA	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.5643_5644delTG	18.37:g.43460063_43460064delCA	ENSP00000282041:p.Asp1882fs		Somatic	OREG0024951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	916	EPG5_ENST00000585906.1_5'UTR	p.SD1881fs	NM_020964.2	NP_066015.2	WXS	Illumina GAIIx	Phase_I	Q9HCE0	EPG5_HUMAN			32	5677_5678	-			1881					A2BDF3|Q9H8C8	Frame_Shift_Del	DEL	ENST00000282041.5	37	c.5643_5644delTG	CCDS11926.2																																																																																				0.554	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		12	77						12	77	---	---	---	---
NEDD4L	23327	broad.mit.edu	37	18	55992284	55992286	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:55992284_55992286delTCC	ENST00000400345.3	+	9	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_ENST00000382850.4_In_Frame_Del_p.P194del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.P194del|NEDD4L_ENST00000456986.1_In_Frame_Del_p.P73del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000586263.1_In_Frame_Del_p.P186del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.P73del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.P194del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.P73del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.P186del	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	194	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498																																						ENST00000456986.1																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						c.(205-210)ctt>ct		neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	23327				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:55992284_55992286delTCC	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.570_572delTCC	18.37:g.55992293_55992295delTCC	ENSP00000383199:p.Pro194del		Somatic				NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del	p.LP69del	NM_001144964.1	NP_001138436.1	WXS	Illumina GAIIx	Phase_I	Q96PU5	NED4L_HUMAN			9	807_809	+			190			C2.		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	In_Frame_Del	DEL	ENST00000400345.3	37	c.207_209delTCC	CCDS45872.1																																																																																				0.498	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			9	1073						9	1073	---	---	---	---
GIPC3	126326	broad.mit.edu	37	19	3589526	3589527	+	Frame_Shift_Ins	INS	-	-	G	rs202075236	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:3589526_3589527insG	ENST00000322315.5	+	4	723_724	c.678_679insG	c.(679-681)gggfs	p.G227fs		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	227										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTTCGTTCTGGGGGGGCTGC	0.609																																						ENST00000322315.5																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10						c.(676-681)tcggggfs		GIPC PDZ domain containing family, member 3																																				SO:0001589	frameshift_variant	126326							g.chr19:3589526_3589527insG	AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"""chromosome 19 open reading frame 64"", ""deafness, autosomal recessive 72"", ""deafness, autosomal recessive 15"""	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.685dupG	19.37:g.3589533_3589533dupG	ENSP00000319254:p.Gly227fs		Somatic					p.SG226fs	NM_133261.2	NP_573568.1	WXS	Illumina GAIIx	Phase_I	Q8TF64	GIPC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	4	723_724	+			226					O75227	Frame_Shift_Ins	INS	ENST00000322315.5	37	c.678_679insG	CCDS32871.1																																																																																				0.609	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1	NM_133261		9	237						9	237	---	---	---	---
SAFB2	9667	broad.mit.edu	37	19	5590342	5590343	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:5590342_5590343insC	ENST00000252542.4	-	18	2735_2736	c.2471_2472insG	c.(2470-2472)ggcfs	p.G824fs		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	824	Gly-rich.|Interacts with SAFB1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CGGAGCCGTAGCCCCCCCAGCC	0.688																																					Ovarian(127;888 1728 23957 44128 52668)	ENST00000252542.4																			0				endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2470-2472)gtafs		scaffold attachment factor B2																																				SO:0001589	frameshift_variant	9667				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5590342_5590343insC	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.2472dupG	19.37:g.5590349_5590349dupC	ENSP00000252542:p.Gly824fs		Somatic					p.V824fs	NM_014649.2	NP_055464.1	WXS	Illumina GAIIx	Phase_I	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	18	2735_2736	-			824			Gly-rich.|Interacts with SAFB1.		B4DKG3|Q8TB13	Frame_Shift_Ins	INS	ENST00000252542.4	37	c.2471_2472insG	CCDS32879.1																																																																																				0.688	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649		7	154						7	154	---	---	---	---
RFX2	5990	broad.mit.edu	37	19	6026217	6026218	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:6026217_6026218insT	ENST00000303657.5	-	6	702_703	c.553_554insA	c.(553-555)agcfs	p.S185fs	RFX2_ENST00000359161.3_Frame_Shift_Ins_p.S185fs|RFX2_ENST00000592546.1_Intron	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	185					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GATTCCTTCGCTTTTTTGGAGG	0.401																																					Colon(38;171 817 19800 47433 48051)	ENST00000303657.5																			0				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(553-555)cgafs		regulatory factor X, 2 (influences HLA class II expression)																																				SO:0001589	frameshift_variant	5990				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:6026217_6026218insT		CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 2"", ""DNA binding protein RFX2"", ""HLA class II regulatory factor RFX2"""	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.554dupA	19.37:g.6026223_6026223dupT	ENSP00000306335:p.Ser185fs		Somatic				RFX2_ENST00000359161.3_Frame_Shift_Ins_p.R185fs|RFX2_ENST00000592546.1_Intron	p.R185fs	NM_000635.3	NP_000626.2	WXS	Illumina GAIIx	Phase_I	P48378	RFX2_HUMAN			6	702_703	-			185					A8K581|B3KNC4|Q6IQ44|Q8SNA2	Frame_Shift_Ins	INS	ENST00000303657.5	37	c.553_554insA	CCDS12157.1																																																																																				0.401	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452687.1	NM_000635		7	411						7	411	---	---	---	---
TUBB4A	10382	broad.mit.edu	37	19	6496087	6496088	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:6496087_6496088insC	ENST00000264071.2	-	4	793_794	c.422_423insG	c.(421-423)ggtfs	p.G141fs	TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000540257.1_Frame_Shift_Ins_p.G141fs|CTD-2396E7.10_ENST00000596027.1_RNA|CTD-2396E7.9_ENST00000599292.1_RNA|TUBB4A_ENST00000598006.1_3'UTR			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	141					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										ACCCCGTGCCACCCCCCAGCGA	0.649																																						ENST00000264071.2																			0											c.(421-423)gggfs		tubulin, beta 4A class IVa																																				SO:0001589	frameshift_variant	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6496087_6496088insC	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.423dupG	19.37:g.6496093_6496093dupC	ENSP00000264071:p.Gly141fs		Somatic				TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000540257.1_Frame_Shift_Ins_p.G141fs|TUBB4A_ENST00000598006.1_3'UTR	p.G141fs			WXS	Illumina GAIIx	Phase_I	P04350	TBB4_HUMAN			4	793_794	-			141					B3KQP4|Q969E5	Frame_Shift_Ins	INS	ENST00000264071.2	37	c.422_423insG	CCDS12168.1																																																																																				0.649	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		8	239						8	239	---	---	---	---
INSR	3643	broad.mit.edu	37	19	7168022	7168023	+	Frame_Shift_Ins	INS	-	-	G	rs546462100	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:7168022_7168023insG	ENST00000302850.5	-	7	1708_1709	c.1566_1567insC	c.(1564-1569)cccgacfs	p.D523fs	INSR_ENST00000341500.5_Frame_Shift_Ins_p.D523fs	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	523					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TCTCGGAAGTCGGGGGGCCAGT	0.475																																						ENST00000341500.5																			0				breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.(1564-1569)ccacttfs		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7168022_7168023insG	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.1567dupC	19.37:g.7168028_7168028dupG	ENSP00000303830:p.Asp523fs		Somatic				INSR_ENST00000302850.5_Frame_Shift_Ins_p.L523fs	p.L523fs	NM_001079817.1	NP_001073285.1	WXS	Illumina GAIIx	Phase_I	P06213	INSR_HUMAN			7	1605_1606	-			523					Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Frame_Shift_Ins	INS	ENST00000302850.5	37	c.1566_1567insC	CCDS12176.1																																																																																				0.475	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			14	794						14	794	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9064309	9064310	+	Frame_Shift_Ins	INS	-	-	G	rs558504850	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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		20	433						20	433	---	---	---	---
C3P1	388503	broad.mit.edu	37	19	10160752	10160753	+	RNA	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:10160752_10160753insC	ENST00000495140.1	+	0	1411							Q6ZMU1	C3P1_HUMAN	complement component 3 precursor pseudogene							extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)			endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						TAGTGGTCGTGCCCCCCACCTC	0.599																																						ENST00000495140.1																			0				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13																																														388503							g.chr19:10160752_10160753insC	AK131489		19p13.2	2009-04-08			ENSG00000167798	ENSG00000167798			34414	pseudogene	pseudogene							Standard	NR_027300		Approved	CPLP	uc010dwx.2	Q6ZMU1	OTTHUMG00000158555		19.37:g.10160758_10160758dupC			Somatic								WXS	Illumina GAIIx	Phase_I					0	1411	+									RNA	INS	ENST00000495140.1	37																																																																																						0.599	C3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000351284.1	NR_027300		9	377						9	377	---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10291083	10291084	+	Frame_Shift_Ins	INS	-	-	G	rs369470867		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:10291083_10291084insG	ENST00000340748.4	-	4	622_623	c.387_388insC	c.(385-390)cccaaafs	p.K130fs	DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.K130fs|DNMT1_ENST00000540357.1_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_ENST00000359526.4_Frame_Shift_Ins_p.T130fs|DNMT1_ENST00000540357.1_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		18	345						18	345	---	---	---	---
TYK2	7297	broad.mit.edu	37	19	10472525	10472526	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:10472525_10472526insG	ENST00000525621.1	-	13	2360_2361	c.1879_1880insC	c.(1879-1881)ctcfs	p.L627fs	TYK2_ENST00000524462.1_Frame_Shift_Ins_p.L442fs|TYK2_ENST00000529370.1_Frame_Shift_Ins_p.L627fs|TYK2_ENST00000264818.6_Frame_Shift_Ins_p.L627fs	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	627	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|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 tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GCCAGGCACGAGGGGGTCCTCG	0.663																																						ENST00000525621.1																			0				breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(1879-1881)cgtfs		tyrosine kinase 2																																				SO:0001589	frameshift_variant	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10472525_10472526insG		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.1880dupC	19.37:g.10472530_10472530dupG	ENSP00000431885:p.Leu627fs		Somatic				TYK2_ENST00000524462.1_Frame_Shift_Ins_p.R442fs|TYK2_ENST00000264818.6_Frame_Shift_Ins_p.R627fs|TYK2_ENST00000529370.1_Frame_Shift_Ins_p.R627fs	p.R627fs	NM_003331.4	NP_003322.3	WXS	Illumina GAIIx	Phase_I	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		13	2360_2361	-			627			Protein kinase 1.		Q6QB10|Q96CH0	Frame_Shift_Ins	INS	ENST00000525621.1	37	c.1879_1880insC	CCDS12236.1																																																																																				0.663	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			11	556						11	556	---	---	---	---
EPOR	2057	broad.mit.edu	37	19	11488680	11488681	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:11488680_11488681insG	ENST00000222139.6	-	8	1610_1611	c.1506_1507insC	c.(1504-1509)cccagcfs	p.S503fs	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	503					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	GCCACATAGCTGGGGGGCAGAG	0.569											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000222139.6																			0				endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5						c.(1504-1509)ccgctafs		erythropoietin receptor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)																																			SO:0001589	frameshift_variant	2057					extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding	g.chr19:11488680_11488681insG	M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"""Fibronectin type III domain containing"""	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.1507dupC	19.37:g.11488686_11488686dupG	ENSP00000222139:p.Ser503fs		Somatic	OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	672	EPOR_ENST00000592375.2_3'UTR	p.L503fs	NM_000121.3	NP_000112.1	WXS	Illumina GAIIx	Phase_I	P19235	EPOR_HUMAN			8	1610_1611	-			503					B2RCG4|Q15443|Q2M205	Frame_Shift_Ins	INS	ENST00000222139.6	37	c.1506_1507insC	CCDS12260.1																																																																																				0.569	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1			11	543						11	543	---	---	---	---
ZNF878	729747	broad.mit.edu	37	19	12155624	12155625	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:12155624_12155625insT	ENST00000547628.1	-	4	728_729	c.591_592insA	c.(589-594)aaacccfs	p.P198fs	CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000602107.1_Frame_Shift_Ins_p.P245fs	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_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL197fs	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		17	482						17	482	---	---	---	---
ZNF625	90589	broad.mit.edu	37	19	12256750	12256751	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:12256750_12256751insC	ENST00000355738.1	-	4	631_632	c.282_283insG	c.(280-285)gggaaafs	p.K95fs	ZNF625-ZNF20_ENST00000430024.1_Intron|CTC-359D24.3_ENST00000472362.1_RNA|ZNF625_ENST00000542938.1_Frame_Shift_Ins_p.K95fs|ZNF625_ENST00000439556.2_Frame_Shift_Ins_p.K161fs|ZNF625_ENST00000455799.1_3'UTR			Q96I27	ZN625_HUMAN	zinc finger protein 625	95					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TCATAAGGTTTCCCCCCAGTGT	0.421																																						ENST00000355738.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						c.(280-285)ggaaccfs		zinc finger protein 625																																				SO:0001589	frameshift_variant	90589				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12256750_12256751insC	BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"""Zinc fingers, C2H2-type"", ""-"""	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.283dupG	19.37:g.12256756_12256756dupC	ENSP00000347977:p.Lys95fs		Somatic				ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000439556.2_Frame_Shift_Ins_p.T161fs|ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000542938.1_Frame_Shift_Ins_p.T95fs	p.T95fs			WXS	Illumina GAIIx	Phase_I	Q96I27	ZN625_HUMAN			4	631_632	-			95					A4FU45|I3L0E9	Frame_Shift_Ins	INS	ENST00000355738.1	37	c.282_283insG																																																																																					0.421	ZNF625-201	KNOWN	basic	protein_coding	protein_coding		NM_145233		8	659						8	659	---	---	---	---
AP1M1	8907	broad.mit.edu	37	19	16314383	16314384	+	Frame_Shift_Ins	INS	-	-	G	rs146546344	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:16314383_16314384insG	ENST00000291439.3	+	2	605_606	c.156_157insG	c.(157-159)gggfs	p.G53fs	AP1M1_ENST00000444449.2_Frame_Shift_Ins_p.G53fs|AP1M1_ENST00000429941.2_Frame_Shift_Ins_p.G53fs|AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000541844.1_Intron	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	53					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|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)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						TCCTGGCCCACGGGGGGGTCCG	0.594																																						ENST00000291439.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						c.(154-159)caggggfs		adaptor-related protein complex 1, mu 1 subunit																																				SO:0001589	frameshift_variant	8907				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding	g.chr19:16314383_16314384insG		CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.163dupG	19.37:g.16314390_16314390dupG	ENSP00000291439:p.Gly53fs		Somatic				AP1M1_ENST00000429941.2_Frame_Shift_Ins_p.QG52fs|AP1M1_ENST00000444449.2_Frame_Shift_Ins_p.QG52fs|AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000590756.1_Intron	p.QG52fs	NM_032493.3	NP_115882.1	WXS	Illumina GAIIx	Phase_I	Q9BXS5	AP1M1_HUMAN			2	605_606	+			52					Q4TTY5	Frame_Shift_Ins	INS	ENST00000291439.3	37	c.156_157insG	CCDS12342.1																																																																																				0.594	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460492.1	NM_032493		8	327						8	327	---	---	---	---
NWD1	284434	broad.mit.edu	37	19	16860826	16860827	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:16860826_16860827insC	ENST00000552788.1	+	4	1373_1374	c.1373_1374insC	c.(1372-1377)tgccccfs	p.CP458fs	NWD1_ENST00000549814.1_Frame_Shift_Ins_p.CP458fs|NWD1_ENST00000339803.6_Frame_Shift_Ins_p.CP323fs|NWD1_ENST00000524140.2_Frame_Shift_Ins_p.CP458fs|NWD1_ENST00000523826.1_Frame_Shift_Ins_p.CP252fs|NWD1_ENST00000379808.3_Frame_Shift_Ins_p.CP458fs			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	458	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCTCTCAACTGCCCCCCGAGGG	0.629																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1372-1374)tccfs		NACHT and WD repeat domain containing 1																																				SO:0001589	frameshift_variant	284434						ATP binding	g.chr19:16860826_16860827insC	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1379dupC	19.37:g.16860832_16860832dupC	ENSP00000447224:p.Cys458fs		Somatic				NWD1_ENST00000549814.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000523826.1_Frame_Shift_Ins_p.S252fs|NWD1_ENST00000552788.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000379808.3_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000339803.6_Frame_Shift_Ins_p.S323fs	p.S458fs	NM_001007525.3	NP_001007526.3	WXS	Illumina GAIIx	Phase_I	Q149M9	NWD1_HUMAN			6	1791_1792	+			458			NACHT.		C9J021|Q68CT3	Frame_Shift_Ins	INS	ENST00000552788.1	37	c.1373_1374insC																																																																																					0.629	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		21	848						21	848	---	---	---	---
NWD1	284434	broad.mit.edu	37	19	16925910	16925911	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:16925910_16925911insC	ENST00000552788.1	+	18	4465_4466	c.4465_4466insC	c.(4465-4467)gccfs	p.A1489fs	NWD1_ENST00000549814.1_Frame_Shift_Ins_p.A1447fs|NWD1_ENST00000339803.6_Frame_Shift_Ins_p.A1354fs|NWD1_ENST00000524140.2_3'UTR|NWD1_ENST00000523826.1_Frame_Shift_Ins_p.A1283fs|NWD1_ENST00000379808.3_3'UTR			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1489							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGGCTTCATTGCCCCCACCAGG	0.505																																						ENST00000552788.1																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(4465-4467)cccfs		NACHT and WD repeat domain containing 1																																				SO:0001589	frameshift_variant	284434						ATP binding	g.chr19:16925910_16925911insC	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.4470dupC	19.37:g.16925915_16925915dupC	ENSP00000447224:p.Ala1489fs		Somatic				NWD1_ENST00000524140.2_3'UTR|NWD1_ENST00000549814.1_Frame_Shift_Ins_p.P1447fs|NWD1_ENST00000523826.1_Frame_Shift_Ins_p.P1283fs|NWD1_ENST00000379808.3_3'UTR|NWD1_ENST00000339803.6_Frame_Shift_Ins_p.P1354fs	p.P1489fs			WXS	Illumina GAIIx	Phase_I	Q149M9	NWD1_HUMAN			18	4465_4466	+			1489					C9J021|Q68CT3	Frame_Shift_Ins	INS	ENST00000552788.1	37	c.4465_4466insC																																																																																					0.505	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		7	2430						7	2430	---	---	---	---
OCEL1	79629	broad.mit.edu	37	19	17337839	17337840	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:17337839_17337840insC	ENST00000215061.4	+	3	327_328	c.283_284insC	c.(283-285)gccfs	p.A95fs	OCEL1_ENST00000597836.1_Frame_Shift_Ins_p.A39fs|OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000601529.1_Frame_Shift_Ins_p.A95fs	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	95	Pro-rich.									central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						CAAAACCAGCGCCCCCCGCCCT	0.639																																						ENST00000215061.4																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						c.(283-285)cccfs		occludin/ELL domain containing 1																																				SO:0001589	frameshift_variant	79629							g.chr19:17337839_17337840insC	BC029361	CCDS12351.1	19p13.11	2008-02-05				ENSG00000099330			26221	protein-coding gene	gene with protein product						12477932	Standard	NM_024578		Approved	FLJ22709	uc002nfp.3	Q9H607		ENST00000215061.4:c.289dupC	19.37:g.17337845_17337845dupC	ENSP00000215061:p.Ala95fs		Somatic				OCEL1_ENST00000597836.1_Frame_Shift_Ins_p.P39fs|OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000601529.1_Frame_Shift_Ins_p.P95fs	p.P95fs	NM_024578.1	NP_078854.1	WXS	Illumina GAIIx	Phase_I	Q9H607	OCEL1_HUMAN			3	327_328	+			95			Pro-rich.			Frame_Shift_Ins	INS	ENST00000215061.4	37	c.283_284insC	CCDS12351.1																																																																																				0.639	OCEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463307.1	NM_024578		14	935						14	935	---	---	---	---
RP11-678G14.2	0	broad.mit.edu	37	19	21749277	21749278	+	RNA	DEL	TC	TC	-	rs370470703		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:21749277_21749278delTC	ENST00000594564.1	-	0	134																											AGAAATTATTTCTGTTTTCCCC	0.401																																						ENST00000594564.1																			0																																																			0							g.chr19:21749277_21749278delTC																													19.37:g.21749277_21749278delTC			Somatic								WXS	Illumina GAIIx	Phase_I					0	134	-									RNA	DEL	ENST00000594564.1	37																																																																																						0.401	RP11-678G14.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000463990.1			5	7						5	7	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31768677	31768678	+	Frame_Shift_Ins	INS	-	-	G	rs151270303	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:31768677_31768678insG	ENST00000240587.4	-	2	2348_2349	c.2021_2022insC	c.(2020-2022)ccgfs	p.P674fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	674					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)					ACCCATCCCGCGGGGGGCTGGG	0.658																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(2020-2022)ccgfs		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.chr19:31768677_31768678insG	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.2022dupC	19.37:g.31768683_31768683dupG	ENSP00000240587:p.Pro674fs		Somatic					p.P674fs	NM_020856.2	NP_065907.2	WXS	Illumina GAIIx	Phase_I	Q63HK5	TSH3_HUMAN			2	2348_2349	-	Esophageal squamous(110;0.226)		674					Q9H0G6|Q9P254	Frame_Shift_Ins	INS	ENST00000240587.4	37	c.2021_2022insC	CCDS12421.2																																																																																				0.658	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		8	209						8	209	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769061	31769062	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:31769061_31769062insC	ENST00000240587.4	-	2	1964_1965	c.1637_1638insG	c.(1636-1638)ggcfs	p.G546fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	546					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)					TGCTGGGATAGCCCCCCCAGCT	0.559																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1636-1638)gtafs		teashirt zinc finger homeobox 3				4,4260		0,4,2128						4.2	1.0			120	7,8247		0,7,4120	no	frameshift	TSHZ3	NM_020856.2		0,11,6248	A1A1,A1R,RR		0.0848,0.0938,0.0879				11,12507				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.chr19:31769061_31769062insC	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.1638dupG	19.37:g.31769068_31769068dupC	ENSP00000240587:p.Gly546fs		Somatic					p.V546fs	NM_020856.2	NP_065907.2	WXS	Illumina GAIIx	Phase_I	Q63HK5	TSH3_HUMAN			2	1964_1965	-	Esophageal squamous(110;0.226)		546					Q9H0G6|Q9P254	Frame_Shift_Ins	INS	ENST00000240587.4	37	c.1637_1638insG	CCDS12421.2																																																																																				0.559	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		37	715						37	715	---	---	---	---
SLC7A10	56301	broad.mit.edu	37	19	33703793	33703794	+	Frame_Shift_Ins	INS	-	-	G	rs143654746	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:33703793_33703794insG	ENST00000253188.4	-	3	617_618	c.471_472insC	c.(469-474)cccaccfs	p.T158fs		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	158					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GAGGCTGTGGTGGGGGGGATGC	0.639																																						ENST00000253188.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18						c.(469-474)ccccacfs		solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10																																				SO:0001589	frameshift_variant	56301				blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity	g.chr19:33703793_33703794insG	AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"""Solute carriers"""	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.472dupC	19.37:g.33703800_33703800dupG	ENSP00000253188:p.Thr158fs		Somatic					p.H158fs	NM_019849.2	NP_062823.1	WXS	Illumina GAIIx	Phase_I	Q9NS82	AAA1_HUMAN			3	617_618	-	Esophageal squamous(110;0.137)		158					B2RE84	Frame_Shift_Ins	INS	ENST00000253188.4	37	c.471_472insC	CCDS12431.1																																																																																				0.639	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450846.2	NM_019849		8	114						8	114	---	---	---	---
GPI	2821	broad.mit.edu	37	19	34887281	34887282	+	Frame_Shift_Ins	INS	-	-	G	rs201411926		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:34887281_34887282insG	ENST00000356487.5	+	13	1379_1380	c.1138_1139insG	c.(1138-1140)tggfs	p.W380fs	GPI_ENST00000415930.3_Frame_Shift_Ins_p.W391fs|GPI_ENST00000586425.1_Frame_Shift_Ins_p.W380fs	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	380					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					CCCCATTGTGTGGGGGGAGCCA	0.564																																						ENST00000415930.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(1171-1173)gggfs		glucose-6-phosphate isomerase																																				SO:0001589	frameshift_variant	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34887281_34887282insG	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.1144dupG	19.37:g.34887287_34887287dupG	ENSP00000348877:p.Trp380fs		Somatic				GPI_ENST00000356487.5_Frame_Shift_Ins_p.G380fs|GPI_ENST00000586425.1_Frame_Shift_Ins_p.G380fs	p.G391fs	NM_001184722.1	NP_001171651.1	WXS	Illumina GAIIx	Phase_I	P06744	G6PI_HUMAN			13	1341_1342	+	Esophageal squamous(110;0.162)		380					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Frame_Shift_Ins	INS	ENST00000356487.5	37	c.1171_1172insG	CCDS12437.1																																																																																				0.564	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3			11	522						11	522	---	---	---	---
ARHGAP33	115703	broad.mit.edu	37	19	36268609	36268610	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:36268609_36268610insG	ENST00000007510.4	+	2	213_214	c.69_70insG	c.(70-72)gggfs	p.G24fs	ARHGAP33_ENST00000221905.1_3'UTR|ARHGAP33_ENST00000314737.5_Frame_Shift_Ins_p.G24fs|ARHGAP33_ENST00000378944.5_Intron			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	24					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TACCCACTGCTGGGGGGCCCAG	0.639																																						ENST00000007510.4																			0				endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(67-72)gcggggfs		Rho GTPase activating protein 33																																				SO:0001589	frameshift_variant	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36268609_36268610insG	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.75dupG	19.37:g.36268615_36268615dupG	ENSP00000007510:p.Gly24fs		Somatic				ARHGAP33_ENST00000314737.5_Frame_Shift_Ins_p.AG23fs|ARHGAP33_ENST00000221905.1_3'UTR|ARHGAP33_ENST00000378944.5_Intron	p.AG23fs			WXS	Illumina GAIIx	Phase_I	O14559	RHG33_HUMAN			2	213_214	+			23					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Frame_Shift_Ins	INS	ENST00000007510.4	37	c.69_70insG																																																																																					0.639	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		8	429						8	429	---	---	---	---
ZNF780B	163131	broad.mit.edu	37	19	40540780	40540781	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:40540780_40540781insAT	ENST00000434248.1	-	5	2050_2051	c.1985_1986insAT	c.(1984-1986)attfs	p.I662fs	ZNF780B_ENST00000221355.6_Frame_Shift_Ins_p.I514fs	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	662					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)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CACCAGCATGAATACTCTGATG	0.386																																						ENST00000434248.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(1984-1986)acafs		zinc finger protein 780B																																				SO:0001589	frameshift_variant	163131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40540780_40540781insAT	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.1984_1985dupAT	19.37:g.40540781_40540782dupAT	ENSP00000391641:p.Ile662fs		Somatic				ZNF780B_ENST00000221355.6_Frame_Shift_Ins_p.T514fs	p.T662fs	NM_001005851.2	NP_001005851.1	WXS	Illumina GAIIx	Phase_I	Q9Y6R6	Z780B_HUMAN			5	2050_2051	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		662					B9EH00	Frame_Shift_Ins	INS	ENST00000434248.1	37	c.1985_1986insAT	CCDS46077.1																																																																																				0.386	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		10	512						10	512	---	---	---	---
C19orf47	126526	broad.mit.edu	37	19	40834398	40834399	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:40834398_40834399insG	ENST00000582783.1	-	6	483_484	c.471_472insC	c.(469-474)cccaggfs	p.R158fs	C19orf47_ENST00000392035.2_Frame_Shift_Ins_p.R91fs	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	158						nucleus (GO:0005634)				endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			TCCGGGCGCCTGGGGGGTGTGC	0.614																																						ENST00000582783.1																			0				endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(469-474)ccggcgfs		chromosome 19 open reading frame 47																																				SO:0001589	frameshift_variant	126526							g.chr19:40834398_40834399insG	AL834131	CCDS58662.1	19q13.2	2012-07-20			ENSG00000160392	ENSG00000160392			26723	protein-coding gene	gene with protein product						12477932	Standard	NM_001256440		Approved	FLJ36888	uc002oni.5	Q8N9M1	OTTHUMG00000179028	ENST00000582783.1:c.472dupC	19.37:g.40834404_40834404dupG	ENSP00000463159:p.Arg158fs		Somatic				C19orf47_ENST00000392035.2_Frame_Shift_Ins_p.A91fs	p.A158fs	NM_001256440.1	NP_001243369.1	WXS	Illumina GAIIx	Phase_I	Q8N9M1	CS047_HUMAN	Lung(22;0.000636)		6	483_484	-			158					Q8IZ33|Q8N0V9	Frame_Shift_Ins	INS	ENST00000582783.1	37	c.471_472insC	CCDS58662.1																																																																																				0.614	C19orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444488.1	NM_178830		12	473						12	473	---	---	---	---
SHKBP1	92799	broad.mit.edu	37	19	41086321	41086322	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:41086321_41086322insC	ENST00000291842.5	+	7	541_542	c.492_493insC	c.(493-495)cccfs	p.P165fs	SHKBP1_ENST00000600733.1_Frame_Shift_Ins_p.P165fs	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	165					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCAACACGATGCCCCCCAACCT	0.619																																						ENST00000291842.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29						c.(490-495)atccccfs		SH3KBP1 binding protein 1																																				SO:0001589	frameshift_variant	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41086321_41086322insC	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.498dupC	19.37:g.41086327_41086327dupC	ENSP00000291842:p.Pro165fs		Somatic				SHKBP1_ENST00000600733.1_Frame_Shift_Ins_p.IP164fs	p.IP164fs	NM_138392.3	NP_612401.2	WXS	Illumina GAIIx	Phase_I	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	541_542	+			164					Q8N2I6|Q8WY93|Q96IB8	Frame_Shift_Ins	INS	ENST00000291842.5	37	c.492_493insC	CCDS12560.1																																																																																				0.619	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		7	258						7	258	---	---	---	---
CEACAM5	1048	broad.mit.edu	37	19	42224865	42224866	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:42224865_42224866insC	ENST00000221992.6	+	8	1909_1910	c.1795_1796insC	c.(1795-1797)tccfs	p.S599fs	CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.S598fs|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.S599fs	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	599	Ig-like 7.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCCATCATTTCCCCCCCAGAC	0.545																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1795-1797)cccfs		carcinoembryonic antigen-related cell adhesion molecule 5																																				SO:0001589	frameshift_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42224865_42224866insC	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1802dupC	19.37:g.42224872_42224872dupC	ENSP00000221992:p.Ser599fs		Somatic				CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.P599fs|CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.P598fs|CEA_ENST00000598976.1_Intron	p.P599fs	NM_004363.2	NP_004354.2	WXS	Illumina GAIIx	Phase_I	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	8	1909_1910	+			599			Ig-like 7.		H9KVA7	Frame_Shift_Ins	INS	ENST00000221992.6	37	c.1795_1796insC	CCDS12584.1																																																																																				0.545	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		17	267						17	267	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:43439519_43439520insC	ENST00000406070.2	-	0	527				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515																																						ENST00000446844.3																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)																																						5676				female pregnancy	extracellular region		g.chr19:43439519_43439520insC			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439525_43439525dupC			Somatic				PSG7_ENST00000406070.2_RNA				WXS	Illumina GAIIx	Phase_I	Q13046	PSG7_HUMAN			0	520	-		Prostate(69;0.00682)						Q15232	RNA	INS	ENST00000406070.2	37																																																																																						0.515	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		8	724						8	724	---	---	---	---
CD177	57126	broad.mit.edu	37	19	43866410	43866411	+	RNA	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:43866410_43866411insG	ENST00000607109.1	-	0	300				CD177_ENST00000378009.4_RNA|CD177_ENST00000607517.1_RNA																							GTCTCTCACTTGGGGGGTGGGG	0.619																																						ENST00000378009.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5								CD177 molecule																																						57126				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane		g.chr19:43866410_43866411insG																													19.37:g.43866416_43866416dupG			Somatic				CD177_ENST00000607517.1_RNA|CTC-490G23.4_ENST00000607109.1_RNA		NM_020406.2	NP_065139.2	WXS	Illumina GAIIx	Phase_I	Q8N6Q3	CD177_HUMAN			0	1413_1414	+		Prostate(69;0.00682)							RNA	INS	ENST00000607109.1	37																																																																																						0.619	CTC-490G23.4-001	KNOWN	basic	antisense	antisense	OTTHUMT00000470165.1			7	108						7	108	---	---	---	---
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:48737669_48737670insC	ENST00000359009.4	-	3	378_379	c.66_67insG	c.(64-69)gggacafs	p.T23fs	CARD8_ENST00000520015.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.D64fs|CARD8_ENST00000391898.3_Frame_Shift_Ins_p.D114fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.D64fs|ZNF114_ENST00000597695.1_Intron			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	23					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436																																						ENST00000391898.3																			0				endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15						c.(340-342)catfs		caspase recruitment domain family, member 8																																				SO:0001589	frameshift_variant	22900				negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity	g.chr19:48737669_48737670insC	AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.67dupG	19.37:g.48737676_48737676dupC	ENSP00000351901:p.Thr23fs		Somatic				CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000357778.5_5'UTR|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs	p.H114fs	NM_001184900.1	NP_001171829.1	WXS	Illumina GAIIx	Phase_I	Q9Y2G2	CARD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)	3	382_383	-		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)	0					B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Frame_Shift_Ins	INS	ENST00000359009.4	37	c.340_341insG																																																																																					0.436	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014959		28	614						28	614	---	---	---	---
FAM83E	54854	broad.mit.edu	37	19	49107037	49107038	+	Frame_Shift_Ins	INS	-	-	G	rs560890077	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:49107037_49107038insG	ENST00000263266.3	-	4	1078_1079	c.889_890insC	c.(889-891)cagfs	p.Q297fs	SPACA4_ENST00000321762.1_5'Flank	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	297										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CGAGGGTTTCTGGGGGGGCGCA	0.723																																						ENST00000263266.3																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10						c.(889-891)gaafs		family with sequence similarity 83, member E																																				SO:0001589	frameshift_variant	54854							g.chr19:49107037_49107038insG	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.890dupC	19.37:g.49107044_49107044dupG	ENSP00000263266:p.Gln297fs		Somatic					p.E297fs	NM_017708.3	NP_060178.2	WXS	Illumina GAIIx	Phase_I	Q2M2I3	FA83E_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	4	1078_1079	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	297					Q9NXK1	Frame_Shift_Ins	INS	ENST00000263266.3	37	c.889_890insC	CCDS42587.1																																																																																				0.723	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708		8	39						8	39	---	---	---	---
PLEKHA4	57664	broad.mit.edu	37	19	49364680	49364681	+	Frame_Shift_Ins	INS	-	-	G	rs369327643		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:49364680_49364681insG	ENST00000263265.6	-	5	898_899	c.343_344insC	c.(343-345)cgafs	p.R115fs	PLEKHA4_ENST00000355496.5_Frame_Shift_Ins_p.R115fs|PLEKHA4_ENST00000596713.1_5'Flank	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	115	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)	p.R115R(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GCGCCGCCCTCGGGGGGCTCCC	0.604																																						ENST00000263265.6																			1	Substitution - coding silent(1)	p.R115R(1)	lung(1)	NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(343-345)aggfs		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4																																				SO:0001589	frameshift_variant	57664					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49364680_49364681insG	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.344dupC	19.37:g.49364686_49364686dupG	ENSP00000263265:p.Arg115fs		Somatic				PLEKHA4_ENST00000355496.5_Frame_Shift_Ins_p.R115fs	p.R115fs	NM_020904.2	NP_065955.2	WXS	Illumina GAIIx	Phase_I	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	5	898_899	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	115			PH.		Q8N4M8|Q8N658	Frame_Shift_Ins	INS	ENST00000263265.6	37	c.343_344insC	CCDS12737.1																																																																																				0.604	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			8	454						8	454	---	---	---	---
PPP1R15A	23645	broad.mit.edu	37	19	49377235	49377236	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:49377235_49377236insC	ENST00000200453.5	+	2	1014_1015	c.745_746insC	c.(745-747)tccfs	p.S249fs		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	249	Glu-rich.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GACCTCCGTGTCCCCCCGATCT	0.554																																						ENST00000200453.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23						c.(745-747)cccfs		protein phosphatase 1, regulatory subunit 15A																																				SO:0001589	frameshift_variant	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49377235_49377236insC	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.751dupC	19.37:g.49377241_49377241dupC	ENSP00000200453:p.Ser249fs		Somatic					p.P249fs	NM_014330.3	NP_055145.3	WXS	Illumina GAIIx	Phase_I	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	2	1014_1015	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	249			Glu-rich.		B4DKQ3|Q6IA96|Q9NVU6	Frame_Shift_Ins	INS	ENST00000200453.5	37	c.745_746insC	CCDS12738.1																																																																																				0.554	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		10	92						10	92	---	---	---	---
PPP1R15A	23645	broad.mit.edu	37	19	49377485	49377486	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:49377485_49377486insC	ENST00000200453.5	+	2	1264_1265	c.995_996insC	c.(994-999)atccccfs	p.IP332fs		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	332	Glu-rich.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CCTCCCTGCATCCCCCCACCAA	0.564																																						ENST00000200453.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23						c.(994-996)accfs		protein phosphatase 1, regulatory subunit 15A																																				SO:0001589	frameshift_variant	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49377485_49377486insC	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1001dupC	19.37:g.49377491_49377491dupC	ENSP00000200453:p.Ile332fs		Somatic					p.T332fs	NM_014330.3	NP_055145.3	WXS	Illumina GAIIx	Phase_I	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	2	1264_1265	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	332			Glu-rich.		B4DKQ3|Q6IA96|Q9NVU6	Frame_Shift_Ins	INS	ENST00000200453.5	37	c.995_996insC	CCDS12738.1																																																																																				0.564	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		10	471						10	471	---	---	---	---
SLC17A7	57030	broad.mit.edu	37	19	49937127	49937128	+	Splice_Site	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:49937127_49937128insG	ENST00000221485.3	-	7	896		c.e7-2		SLC17A7_ENST00000600601.1_Splice_Site|SLC17A7_ENST00000543531.1_Splice_Site	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7						glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CGAAGCTGCCTGGGGGGGTCAG	0.678																																						ENST00000221485.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26						c.e7-2		solute carrier family 17 (vesicular glutamate transporter), member 7				5,4257		0,5,2126						4.3	1.0			30	3,8251		0,3,4124	no	splice-3	SLC17A7	NM_020309.3		0,8,6250	A1A1,A1R,RR		0.0363,0.1173,0.0639				8,12508				SO:0001630	splice_region_variant	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49937127_49937128insG	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.725-2->C	19.37:g.49937134_49937134dupG			Somatic				SLC17A7_ENST00000600601.1_Splice_Site|SLC17A7_ENST00000543531.1_Splice_Site		NM_020309.3	NP_064705.1	WXS	Illumina GAIIx	Phase_I	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	7	896	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)						B4DFR9|B4DG46|Q6PCD0	Splice_Site	INS	ENST00000221485.3	37		CCDS12764.1																																																																																				0.678	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2		Intron	7	234						7	234	---	---	---	---
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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		12	287						12	287	---	---	---	---
NAPSA	9476	broad.mit.edu	37	19	50862305	50862306	+	Frame_Shift_Ins	INS	-	-	C	rs557448259|rs568951683	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:50862305_50862306insC	ENST00000253719.2	-	8	1205_1206	c.997_998insG	c.(997-999)gtcfs	p.V333fs	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	333					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GTTAAACCAGACCCCCCCAAGA	0.53													CCCCCCC|CCCCCCC|CCCCCCCC|insertion	5	0.000998403	0.0	0.0	5008	,	,		18990	0.003		0.001	False		,,,				2504	0.001					ENST00000253719.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						c.(997-999)ctgfs		napsin A aspartic peptidase																																				SO:0001589	frameshift_variant	9476				proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr19:50862305_50862306insC	AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"""kidney-derived aspartic protease-like protein"""	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.998dupG	19.37:g.50862312_50862312dupC	ENSP00000253719:p.Val333fs		Somatic				NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	p.L333fs	NM_004851.1	NP_004842.1	WXS	Illumina GAIIx	Phase_I	O96009	NAPSA_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)	8	1205_1206	-		all_neural(266;0.057)	333					Q8WWD9	Frame_Shift_Ins	INS	ENST00000253719.2	37	c.997_998insG	CCDS12794.1																																																																																				0.530	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464714.1	NM_004851		11	102						11	102	---	---	---	---
SHANK1	50944	broad.mit.edu	37	19	51192459	51192460	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:51192459_51192460insC	ENST00000293441.1	-	15	2059_2060	c.2041_2042insG	c.(2041-2043)gccfs	p.A681fs	SHANK1_ENST00000391813.1_Frame_Shift_Ins_p.A68fs|SHANK1_ENST00000391814.1_Frame_Shift_Ins_p.A681fs|SHANK1_ENST00000359082.3_Frame_Shift_Ins_p.A672fs	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	681	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|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)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.A681S(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CTCACCCTTGGCCCCCCGGAGC	0.609																																						ENST00000293441.1																			1	Substitution - Missense(1)	p.A681S(1)	lung(1)	breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(2041-2043)caafs		SH3 and multiple ankyrin repeat domains 1																																				SO:0001589	frameshift_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51192459_51192460insC	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2042dupG	19.37:g.51192465_51192465dupC	ENSP00000293441:p.Ala681fs		Somatic				SHANK1_ENST00000391814.1_Frame_Shift_Ins_p.Q681fs|SHANK1_ENST00000391813.1_Frame_Shift_Ins_p.Q68fs|SHANK1_ENST00000359082.3_Frame_Shift_Ins_p.Q672fs	p.Q681fs	NM_016148.2	NP_057232.2	WXS	Illumina GAIIx	Phase_I	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	15	2059_2060	-		all_neural(266;0.057)	681			PDZ.		A8MXP5|B7WNY6|Q9NYW9	Frame_Shift_Ins	INS	ENST00000293441.1	37	c.2041_2042insG	CCDS12799.1																																																																																				0.609	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		25	1007						25	1007	---	---	---	---
SHANK1	50944	broad.mit.edu	37	19	51192558	51192559	+	Intron	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:51192558_51192559insG	ENST00000293441.1	-	15	1983				SHANK1_ENST00000391813.1_Frame_Shift_Ins_p.H35fs|SHANK1_ENST00000391814.1_Intron|SHANK1_ENST00000359082.3_Intron	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1						adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|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)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCAGGAGAAATGGGGGGGTGGT	0.589																																						ENST00000391813.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(103-105)tttfs		SH3 and multiple ankyrin repeat domains 1																																				SO:0001627	intron_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51192558_51192559insG	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.1965-22->C	19.37:g.51192565_51192565dupG			Somatic				SHANK1_ENST00000391814.1_Intron|SHANK1_ENST00000293441.1_Intron|SHANK1_ENST00000359082.3_Intron	p.F35fs			WXS	Illumina GAIIx	Phase_I	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	1	102_103	-		all_neural(266;0.057)	1218					A8MXP5|B7WNY6|Q9NYW9	Frame_Shift_Ins	INS	ENST00000293441.1	37	c.103_104insC	CCDS12799.1																																																																																				0.589	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		14	233						14	233	---	---	---	---
GPR32	2854	broad.mit.edu	37	19	51274914	51274915	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:51274914_51274915insC	ENST00000270590.4	+	1	1194_1195	c.1057_1058insC	c.(1057-1059)gccfs	p.A353fs		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	353					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCGTGGCAACGCCCCCCGGGAA	0.525																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	ENST00000270590.4																			0				breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(1057-1059)cccfs		G protein-coupled receptor 32																																				SO:0001589	frameshift_variant	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274914_51274915insC	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.1063dupC	19.37:g.51274920_51274920dupC	ENSP00000270590:p.Ala353fs		Somatic					p.P353fs	NM_001506.1	NP_001497.1	WXS	Illumina GAIIx	Phase_I	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	1194_1195	+		all_neural(266;0.131)	353					Q502U7|Q6NWS5	Frame_Shift_Ins	INS	ENST00000270590.4	37	c.1057_1058insC	CCDS12801.1																																																																																				0.525	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			12	377						12	377	---	---	---	---
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:51326962_51326963insC	ENST00000301420.2	-	1	77_78	c.42_43insG	c.(40-45)gggactfs	p.T15fs	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	15						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Aprotinin(DB06692)	GTCTCACCAGTCCCCCCCAGGG	0.653																																						ENST00000301420.2																			0				breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13						c.(40-45)ggctggfs		kallikrein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	3816				proteolysis	nucleus	serine-type endopeptidase activity	g.chr19:51326962_51326963insC	L10038	CCDS12804.1	19q13.3	2008-02-05	2006-10-27			ENSG00000167748	3.4.21.35	"""Kallikreins"""	6357	protein-coding gene	gene with protein product		147910	"""kallikrein 1, renal/pancreas/salivary"""			1684954, 16800724, 16800723	Standard	NM_002257		Approved	Klk6	uc002ptk.1	P06870		ENST00000301420.2:c.43dupG	19.37:g.51326969_51326969dupC	ENSP00000301420:p.Thr15fs		Somatic				KLK1_ENST00000448701.2_5'UTR	p.W15fs	NM_002257.2	NP_002248.1	WXS	Illumina GAIIx	Phase_I	P06870	KLK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	1	77_78	-		all_neural(266;0.0199)	15					Q66US9|Q86U61|Q8TCV8|Q9BS53|Q9NQU4|Q9UD19|Q9UMJ1	Frame_Shift_Ins	INS	ENST00000301420.2	37	c.42_43insG	CCDS12804.1																																																																																				0.653	KLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464135.2	NM_002257		20	304						20	304	---	---	---	---
ZNF432	9668	broad.mit.edu	37	19	52538164	52538165	+	Frame_Shift_Ins	INS	-	-	ACAA			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:52538164_52538165insACAA	ENST00000594154.1	-	5	979_980	c.767_768insTTGT	c.(766-768)aaafs	p.K256fs	ZNF432_ENST00000221315.5_Frame_Shift_Ins_p.K256fs			O94892	ZN432_HUMAN	zinc finger protein 432	256					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(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		ATTTCTCTCTTTTATGAATTCT	0.381																																						ENST00000594154.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29						c.(766-768)aagfs		zinc finger protein 432																																				SO:0001589	frameshift_variant	9668				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52538164_52538165insACAA	AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.767_768insTTGT	19.37:g.52538164_52538165insACAA	ENSP00000470488:p.Lys256fs		Somatic				ZNF432_ENST00000221315.5_Frame_Shift_Ins_p.K256fs	p.K256fs			WXS	Illumina GAIIx	Phase_I	O94892	ZN432_HUMAN		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)	5	979_980	-		all_neural(266;0.117)	256						Frame_Shift_Ins	INS	ENST00000594154.1	37	c.767_768insTTGT	CCDS12848.1																																																																																				0.381	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650		18	140						18	140	---	---	---	---
ZNF600	162966	broad.mit.edu	37	19	53270328	53270329	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:53270328_53270329insT	ENST00000338230.3	-	3	947_948	c.680_681insA	c.(679-681)ttcfs	p.F227fs		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	227					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)		ATACCTGACTGAAGGACTTTCC	0.421																																					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.(679-681)tagfs		zinc finger protein 600																																				SO:0001589	frameshift_variant	162966				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53270328_53270329insT	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.680_681insA	19.37:g.53270328_53270329insT	ENSP00000344791:p.Phe227fs		Somatic					p.*227fs	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	947_948	-			227					Q6MZR0	Frame_Shift_Ins	INS	ENST00000338230.3	37	c.680_681insA	CCDS12856.1																																																																																				0.421	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		8	683						8	683	---	---	---	---
TMC4	147798	broad.mit.edu	37	19	54675768	54675769	+	Frame_Shift_Ins	INS	-	-	C	rs140898828	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:54675768_54675769insC	ENST00000376591.4	-	2	312_313	c.181_182insG	c.(181-183)gcgfs	p.A61fs	TMC4_ENST00000301187.4_Frame_Shift_Ins_p.A55fs|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	61					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.A55T(1)		breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTCCTCCAGCGCCCCCCAAGGC	0.653																																						ENST00000376591.4																			1	Substitution - Missense(1)	p.A55T(1)	breast(1)	breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(181-183)gctfs		transmembrane channel-like 4																																				SO:0001589	frameshift_variant	147798					integral to membrane		g.chr19:54675768_54675769insC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.182dupG	19.37:g.54675774_54675774dupC	ENSP00000365776:p.Ala61fs		Somatic				TMC4_ENST00000301187.4_Frame_Shift_Ins_p.A55fs	p.A61fs	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	WXS	Illumina GAIIx	Phase_I	Q7Z404	TMC4_HUMAN			2	312_313	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		61					Q7Z5M3|Q8N5E4|Q8TBS7	Frame_Shift_Ins	INS	ENST00000376591.4	37	c.181_182insG	CCDS46174.1																																																																																				0.653	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			7	367						7	367	---	---	---	---
DEFB132	400830	broad.mit.edu	37	20	239780	239781	+	Frame_Shift_Ins	INS	-	-	G	rs138201035	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:239780_239781insG	ENST00000382376.3	+	2	164_165	c.121_122insG	c.(121-123)tggfs	p.W41fs		NM_207469.2	NP_997352.1	Q7Z7B7	DB132_HUMAN	defensin, beta 132	41					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	4						ATGTTGCCACTGGGGGGAGACA	0.525																																						ENST00000382376.3																			0				breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(121-123)gggfs		defensin, beta 132																																				SO:0001589	frameshift_variant	400830				defense response to bacterium	extracellular region		g.chr20:239780_239781insG	AF525932	CCDS12993.1	20p13	2009-12-04	2008-10-23		ENSG00000186458	ENSG00000186458		"""Defensins, beta"""	33806	protein-coding gene	gene with protein product						18416833	Standard	NM_207469		Approved	RP5-1103G7.6, DEFB32	uc002wdb.3	Q7Z7B7	OTTHUMG00000043061	ENST00000382376.3:c.127dupG	20.37:g.239786_239786dupG	ENSP00000371813:p.Trp41fs		Somatic					p.G41fs	NM_207469.2	NP_997352.1	WXS	Illumina GAIIx	Phase_I	Q7Z7B7	DB132_HUMAN			2	164_165	+			41					B2RP72|Q4QY40	Frame_Shift_Ins	INS	ENST00000382376.3	37	c.121_122insG	CCDS12993.1																																																																																				0.525	DEFB132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101365.1	NM_207469		14	585						14	585	---	---	---	---
NRSN2	80023	broad.mit.edu	37	20	333922	333923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:333922_333923insC	ENST00000382291.3	+	4	498_499	c.258_259insC	c.(259-261)cccfs	p.P87fs	NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.P87fs|NRSN2_ENST00000608736.1_Intron	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_ENST00000382285.2_Frame_Shift_Ins_p.VP86fs|NRSN2_ENST00000492242.1_3'UTR	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		12	301						12	301	---	---	---	---
PSMF1	9491	broad.mit.edu	37	20	1145690	1145691	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:1145690_1145691insC	ENST00000335877.6	+	7	958_959	c.782_783insC	c.(781-786)ctccccfs	p.LP261fs	PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000333082.3_Frame_Shift_Ins_p.LP261fs|PSMF1_ENST00000381898.4_Intron|PSMF1_ENST00000438768.2_Intron|PSMF1_ENST00000246015.4_Intron	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	261	Pro-rich.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CCAGACCATCTCCCCCCGCCGG	0.579																																						ENST00000335877.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						c.(781-783)cccfs		proteasome (prosome, macropain) inhibitor subunit 1 (PI31)																																				SO:0001589	frameshift_variant	9491				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding	g.chr20:1145690_1145691insC	D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"""Proteasome (prosome, macropain) subunits"""	9571	protein-coding gene	gene with protein product	"""proteasome inhibitor hP131 subunit"""					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.788dupC	20.37:g.1145696_1145696dupC	ENSP00000338039:p.Leu261fs		Somatic				PSMF1_ENST00000333082.3_Frame_Shift_Ins_p.P261fs|PSMF1_ENST00000438768.2_Intron|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000246015.4_Intron|PSMF1_ENST00000381898.4_Intron	p.P261fs	NM_006814.3	NP_006805.2	WXS	Illumina GAIIx	Phase_I	Q92530	PSMF1_HUMAN			7	958_959	+			261			Pro-rich.		A0AVQ9|D3DVW3|Q9H4I1	Frame_Shift_Ins	INS	ENST00000335877.6	37	c.782_783insC	CCDS13010.1																																																																																				0.579	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077504.2	NM_178578		10	353						10	353	---	---	---	---
NSFL1C	55968	broad.mit.edu	37	20	1426464	1426465	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:1426464_1426465insG	ENST00000216879.4	-	8	1663_1664	c.796_797insC	c.(796-798)cagfs	p.Q266fs	NSFL1C_ENST00000353088.2_Frame_Shift_Ins_p.Q235fs|NSFL1C_ENST00000381658.4_Frame_Shift_Ins_p.Q155fs|NSFL1C_ENST00000350991.4_Frame_Shift_Ins_p.Q268fs|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000476071.1_Frame_Shift_Ins_p.Q268fs	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	266						chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						ACTCAACACCTGGGGGGCAGTG	0.51																																						ENST00000216879.4																			0				breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(796-798)ggtfs		NSFL1 (p97) cofactor (p47)																																				SO:0001589	frameshift_variant	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1426464_1426465insG	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.797dupC	20.37:g.1426470_1426470dupG	ENSP00000216879:p.Gln266fs		Somatic				NSFL1C_ENST00000476071.1_Frame_Shift_Ins_p.G268fs|NSFL1C_ENST00000350991.4_Frame_Shift_Ins_p.G268fs|NSFL1C_ENST00000381658.4_Frame_Shift_Ins_p.G155fs|NSFL1C_ENST00000353088.2_Frame_Shift_Ins_p.G235fs|NSFL1C_ENST00000461211.1_5'UTR	p.G266fs	NM_016143.4	NP_057227.2	WXS	Illumina GAIIx	Phase_I	Q9UNZ2	NSF1C_HUMAN			8	1663_1664	-			266					A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Frame_Shift_Ins	INS	ENST00000216879.4	37	c.796_797insC	CCDS13015.1																																																																																				0.510	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		12	636						12	636	---	---	---	---
PDYN	5173	broad.mit.edu	37	20	1963714	1963715	+	In_Frame_Ins	INS	-	-	AAC			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:1963714_1963715insAAC	ENST00000217305.2	-	3	241_242	c.16_17insGTT	c.(16-18)ctg>cGTTtg	p.5_6insR	PDYN_ENST00000539905.1_In_Frame_Ins_p.5_6insR|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_In_Frame_Ins_p.5_6insR	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	5					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGCCAGGACCAGCCCCTGCCAG	0.564																																						ENST00000217305.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(16-18)ggt>GTTggt		prodynorphin																																				SO:0001652	inframe_insertion	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1963714_1963715insAAC		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.16_17insGTT	20.37:g.1963714_1963715insAAC	ENSP00000217305:p.Gly5_Leu6insArg		Somatic				PDYN_ENST00000540134.1_In_Frame_Ins_p.5_6insV|PDYN_ENST00000539905.1_In_Frame_Ins_p.5_6insV|RP4-684O24.5_ENST00000446562.1_RNA	p.5_6insV	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	WXS	Illumina GAIIx	Phase_I	P01213	PDYN_HUMAN			3	241_242	-			5					A8K0Q3	In_Frame_Ins	INS	ENST00000217305.2	37	c.16_17insGTT	CCDS13023.1																																																																																				0.564	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			194	104						194	104	---	---	---	---
FASTKD5	60493	broad.mit.edu	37	20	3128000	3128001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:3128000_3128001insC	ENST00000380266.3	-	2	2037_2038	c.1716_1717insG	c.(1714-1719)gggcccfs	p.P573fs	UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA	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_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_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		9	141						9	141	---	---	---	---
CST1	1469	broad.mit.edu	37	20	23729753	23729754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:23729753_23729754insC	ENST00000304749.2	-	2	311_312	c.241_242insG	c.(241-243)gtgfs	p.V81fs	CST1_ENST00000398402.1_Frame_Shift_Ins_p.V81fs	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	81					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					GAAGTAATTCACCCCCCCAACG	0.554																																						ENST00000304749.2																			0				kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13						c.(241-243)gaafs		cystatin SN																																				SO:0001589	frameshift_variant	1469					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23729753_23729754insC	M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.242dupG	20.37:g.23729760_23729760dupC	ENSP00000305731:p.Val81fs		Somatic				CST1_ENST00000398402.1_Frame_Shift_Ins_p.E81fs	p.E81fs	NM_001898.2	NP_001889.2	WXS	Illumina GAIIx	Phase_I	P01037	CYTN_HUMAN			2	311_312	-	Lung NSC(19;0.0676)|all_lung(19;0.148)		81					Q96LE6|Q9UCQ6	Frame_Shift_Ins	INS	ENST00000304749.2	37	c.241_242insG	CCDS13160.1																																																																																				0.554	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078351.2	NM_001898		35	410						35	410	---	---	---	---
DUSP15	128853	broad.mit.edu	37	20	30451726	30451727	+	Frame_Shift_Ins	INS	-	-	C	rs201744217		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:30451726_30451727insC	ENST00000278979.3	-	5	313_314	c.237_238insG	c.(235-240)gggaacfs	p.N80fs	DUSP15_ENST00000398083.1_5'UTR|DUSP15_ENST00000493115.1_5'UTR|DUSP15_ENST00000375966.4_Frame_Shift_Ins_p.N80fs|DUSP15_ENST00000398084.2_5'UTR|DUSP15_ENST00000486996.1_5'UTR|DUSP15_ENST00000339738.5_Frame_Shift_Ins_p.N83fs			Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	80	Tyrosine-protein phosphatase.				positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ACAAGGCAGTTCCCCCCATTAA	0.55																																						ENST00000278979.3																			0				large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7						c.(235-240)ggactgfs		dual specificity phosphatase 15																																				SO:0001589	frameshift_variant	128853					cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr20:30451726_30451727insC		CCDS13193.1, CCDS42862.1	20q11.21	2011-06-09	2005-03-09		ENSG00000149599	ENSG00000149599		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16236	protein-coding gene	gene with protein product			"""dual specificity phosphatase-like 15"""			15138252	Standard	NM_080611		Approved	bA243J16.6, VHY	uc002wwx.1	Q9H1R2	OTTHUMG00000032182	ENST00000278979.3:c.238dupG	20.37:g.30451732_30451732dupC	ENSP00000278979:p.Asn80fs		Somatic				DUSP15_ENST00000375966.4_Frame_Shift_Ins_p.L80fs|DUSP15_ENST00000493115.1_5'UTR|DUSP15_ENST00000486996.1_5'UTR|DUSP15_ENST00000398084.2_5'UTR|DUSP15_ENST00000339738.5_Frame_Shift_Ins_p.L83fs|DUSP15_ENST00000398083.1_5'UTR	p.L80fs			WXS	Illumina GAIIx	Phase_I	Q9H1R2	DUS15_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		5	313_314	-			80			Tyrosine-protein phosphatase.		A6NH79|A8MVC8|Q5QP62|Q5QP63|Q5QP65|Q6PGN7|Q8N826|Q9BX24	Frame_Shift_Ins	INS	ENST00000278979.3	37	c.237_238insG																																																																																					0.550	DUSP15-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078555.3	NM_080611		11	841						11	841	---	---	---	---
CBFA2T2	9139	broad.mit.edu	37	20	32224504	32224505	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:32224504_32224505insA	ENST00000346541.3	+	10	1851_1852	c.1314_1315insA	c.(1315-1317)aaafs	p.K439fs	CBFA2T2_ENST00000543126.1_5'Flank|CBFA2T2_ENST00000375279.2_Frame_Shift_Ins_p.K439fs|CBFA2T2_ENST00000359606.3_Frame_Shift_Ins_p.K449fs|CBFA2T2_ENST00000397800.1_Frame_Shift_Ins_p.K410fs|CBFA2T2_ENST00000492345.1_Frame_Shift_Ins_p.K410fs|CBFA2T2_ENST00000342704.6_Frame_Shift_Ins_p.K430fs	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	439					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						TGGAGTTTTGGAAAAAAACAGG	0.446																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	ENST00000346541.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						c.(1312-1317)tgaaaafs		core-binding factor, runt domain, alpha subunit 2; translocated to, 2																																				SO:0001589	frameshift_variant	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32224504_32224505insA	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.1321dupA	20.37:g.32224511_32224511dupA	ENSP00000262653:p.Lys439fs		Somatic				CBFA2T2_ENST00000342704.5_Frame_Shift_Ins_p.*K429fs|CBFA2T2_ENST00000397800.1_Frame_Shift_Ins_p.*K409fs|CBFA2T2_ENST00000375279.2_Frame_Shift_Ins_p.*K438fs|CBFA2T2_ENST00000359606.3_Frame_Shift_Ins_p.*K448fs	p.*K438fs	NM_005093.3	NP_005084.1	WXS	Illumina GAIIx	Phase_I	O43439	MTG8R_HUMAN			10	1851_1852	+			438					B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Frame_Shift_Ins	INS	ENST00000346541.3	37	c.1314_1315insA	CCDS13221.1																																																																																				0.446	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		7	280						7	280	---	---	---	---
CNBD2	140894	broad.mit.edu	37	20	34618503	34618504	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:34618503_34618504insC	ENST00000373973.3	+	12	1837_1838	c.1664_1665insC	c.(1663-1668)ctccccfs	p.LP555fs	CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Frame_Shift_Ins_p.LP551fs			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	555																	CAGAAATACCTCCCCCCATTGA	0.455																																						ENST00000373973.3																			0											c.(1663-1665)cccfs		cyclic nucleotide binding domain containing 2																																				SO:0001589	frameshift_variant	140894							g.chr20:34618503_34618504insC	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1670dupC	20.37:g.34618509_34618509dupC	ENSP00000363084:p.Leu555fs		Somatic				CNBD2_ENST00000349339.1_Frame_Shift_Ins_p.P551fs|CNBD2_ENST00000538900.1_3'UTR	p.P555fs			WXS	Illumina GAIIx	Phase_I					12	1837_1838	+								Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Frame_Shift_Ins	INS	ENST00000373973.3	37	c.1664_1665insC																																																																																					0.455	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		11	853						11	853	---	---	---	---
RPRD1B	58490	broad.mit.edu	37	20	36718236	36718237	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:36718236_36718237insC	ENST00000373433.4	+	7	1342_1343	c.940_941insC	c.(940-942)gccfs	p.A314fs	RPRD1B_ENST00000471511.1_3'UTR	NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	314					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						AGGGGGCTTAGCCCCCCTGCCC	0.54																																						ENST00000373433.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						c.(940-942)cccfs		regulation of nuclear pre-mRNA domain containing 1B																																				SO:0001589	frameshift_variant	58490							g.chr20:36718236_36718237insC	AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"""chromosome 20 open reading frame 77"""	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.946dupC	20.37:g.36718242_36718242dupC	ENSP00000362532:p.Ala314fs		Somatic				RPRD1B_ENST00000471511.1_3'UTR	p.P314fs	NM_021215.3	NP_067038.1	WXS	Illumina GAIIx	Phase_I	Q9NQG5	RPR1B_HUMAN			7	1342_1343	+			314					Q1WDE7|Q6PKF4	Frame_Shift_Ins	INS	ENST00000373433.4	37	c.940_941insC	CCDS13301.1																																																																																				0.540	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	NM_021215		12	1397						12	1397	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37146232	37146233	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:37146232_37146233insC	ENST00000262879.6	+	8	1419_1420	c.1135_1136insC	c.(1135-1137)accfs	p.T379fs	RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.T379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.T157fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.T379fs|RALGAPB_ENST00000397042.3_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_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397042.3_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		15	212						15	212	---	---	---	---
DHX35	60625	broad.mit.edu	37	20	37650553	37650554	+	Frame_Shift_Ins	INS	-	-	C	rs142673637		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:37650553_37650554insC	ENST00000252011.3	+	16	1601_1602	c.1568_1569insC	c.(1567-1572)gtccccfs	p.VP523fs	DHX35_ENST00000373323.4_Frame_Shift_Ins_p.VP492fs|DHX35_ENST00000373325.2_Frame_Shift_Ins_p.VP523fs	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	523					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				ATCTTTGTGGTCCCCCCAAACC	0.455																																						ENST00000252011.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.(1567-1569)gccfs		DEAH (Asp-Glu-Ala-His) box polypeptide 35																																				SO:0001589	frameshift_variant	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37650553_37650554insC	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1574dupC	20.37:g.37650559_37650559dupC	ENSP00000252011:p.Val523fs		Somatic				DHX35_ENST00000373325.2_Frame_Shift_Ins_p.A523fs|DHX35_ENST00000373323.4_Frame_Shift_Ins_p.A492fs	p.A523fs	NM_021931.3	NP_068750.2	WXS	Illumina GAIIx	Phase_I	Q9H5Z1	DHX35_HUMAN			16	1601_1602	+		Myeloproliferative disorder(115;0.00878)	523					A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Frame_Shift_Ins	INS	ENST00000252011.3	37	c.1568_1569insC	CCDS13310.1																																																																																				0.455	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		7	873						7	873	---	---	---	---
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G	rs559154076	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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			22	312						22	312	---	---	---	---
PIGT	51604	broad.mit.edu	37	20	44050025	44050026	+	Frame_Shift_Ins	INS	-	-	C	rs530768714|rs569625672		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:44050025_44050026insC	ENST00000279036.6	+	9	1116_1117	c.1036_1037insC	c.(1036-1038)gccfs	p.A346fs	PIGT_ENST00000545755.1_Frame_Shift_Ins_p.A84fs|PIGT_ENST00000535404.1_Frame_Shift_Ins_p.A191fs|PIGT_ENST00000372689.5_Intron|PIGT_ENST00000341555.5_Frame_Shift_Ins_p.A152fs|PIGT_ENST00000543458.2_Frame_Shift_Ins_p.A290fs|PIGT_ENST00000279035.9_Frame_Shift_Ins_p.A244fs	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	346					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TTACACAGAGGCCCCCCCAGTG	0.574																																						ENST00000279036.6																			0				breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22						c.(1036-1038)cccfs		phosphatidylinositol glycan anchor biosynthesis, class T																																				SO:0001589	frameshift_variant	51604				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr20:44050025_44050026insC		CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.1043dupC	20.37:g.44050032_44050032dupC	ENSP00000279036:p.Ala346fs		Somatic				PIGT_ENST00000545755.1_Frame_Shift_Ins_p.P84fs|PIGT_ENST00000535404.1_Frame_Shift_Ins_p.P191fs|PIGT_ENST00000279035.9_Frame_Shift_Ins_p.P244fs|PIGT_ENST00000372689.5_Intron|PIGT_ENST00000341555.5_Frame_Shift_Ins_p.P152fs|PIGT_ENST00000543458.2_Frame_Shift_Ins_p.P290fs	p.P346fs	NM_015937.5	NP_057021.2	WXS	Illumina GAIIx	Phase_I	Q969N2	PIGT_HUMAN			9	1116_1117	+		Myeloproliferative disorder(115;0.0122)	346					B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Frame_Shift_Ins	INS	ENST00000279036.6	37	c.1036_1037insC	CCDS13353.1																																																																																				0.574	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937		17	171						17	171	---	---	---	---
NCOA5	57727	broad.mit.edu	37	20	44691403	44691404	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:44691403_44691404insG	ENST00000290231.6	-	8	1439_1440	c.1275_1276insC	c.(1273-1278)cccaccfs	p.T426fs		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	426					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGCTGGGAGGTGGGGGGTGCAG	0.619																																						ENST00000290231.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(1273-1278)cccctcfs		nuclear receptor coactivator 5																																				SO:0001589	frameshift_variant	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44691403_44691404insG		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.1276dupC	20.37:g.44691409_44691409dupG	ENSP00000290231:p.Thr426fs		Somatic					p.L426fs	NM_020967.2	NP_066018.1	WXS	Illumina GAIIx	Phase_I	Q9HCD5	NCOA5_HUMAN			8	1439_1440	-		Myeloproliferative disorder(115;0.0122)	426					B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Frame_Shift_Ins	INS	ENST00000290231.6	37	c.1275_1276insC	CCDS13392.1																																																																																				0.619	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		21	1511						21	1511	---	---	---	---
ARFGEF2	10564	broad.mit.edu	37	20	47587789	47587790	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:47587789_47587790insA	ENST00000371917.4	+	10	1323_1324	c.1323_1324insA	c.(1324-1326)aaafs	p.K442fs		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	442					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TGGCCTTGTCCAAAAACGGCGT	0.436																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(1321-1326)tcaaaafs		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)																																				SO:0001589	frameshift_variant	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47587789_47587790insA	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1328dupA	20.37:g.47587794_47587794dupA	ENSP00000360985:p.Lys442fs		Somatic					p.SK441fs	NM_006420.2	NP_006411.2	WXS	Illumina GAIIx	Phase_I	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		10	1323_1324	+			441					Q5TFT9|Q9NTS1	Frame_Shift_Ins	INS	ENST00000371917.4	37	c.1323_1324insA	CCDS13411.1																																																																																				0.436	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		8	1538						8	1538	---	---	---	---
SALL4	57167	broad.mit.edu	37	20	50400982	50400983	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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	87						8	87	---	---	---	---
GNAS	2778	broad.mit.edu	37	20	57478756	57478757	+	Frame_Shift_Ins	INS	-	-	C	rs375410323		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:57478756_57478757insC	ENST00000371085.3	+	5	766_767	c.342_343insC	c.(343-345)cccfs	p.P115fs	GNAS_ENST00000371095.3_Frame_Shift_Ins_p.P101fs|GNAS_ENST00000354359.7_Frame_Shift_Ins_p.P116fs|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Frame_Shift_Ins_p.P101fs|GNAS_ENST00000265620.7_Frame_Shift_Ins_p.P100fs|GNAS_ENST00000371102.4_Frame_Shift_Ins_p.P744fs|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371100.4_Frame_Shift_Ins_p.P758fs	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	115			P -> L (in AHO). {ECO:0000269|PubMed:11600516}.		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.V760fs*23(1)|p.V117fs*23(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCAACCTGGTGCCCCCCGTGGA	0.559			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		2	Insertion - Frameshift(2)	p.V760fs*23(1)|p.V117fs*23(1)	haematopoietic_and_lymphoid_tissue(2)	adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	GRCh37	CM980947	GNAS	M		c.(2269-2274)gtccccfs		GNAS complex locus																																				SO:0001589	frameshift_variant	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57478756_57478757insC	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.348dupC	20.37:g.57478762_57478762dupC	ENSP00000360126:p.Pro115fs	TSP Lung(22;0.16)	Somatic				GNAS_ENST00000371095.3_Frame_Shift_Ins_p.VP100fs|GNAS_ENST00000371085.3_Frame_Shift_Ins_p.VP114fs|GNAS_ENST00000354359.7_Frame_Shift_Ins_p.VP115fs|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371102.4_Frame_Shift_Ins_p.VP743fs|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Frame_Shift_Ins_p.VP100fs|GNAS_ENST00000265620.7_Frame_Shift_Ins_p.VP99fs	p.VP757fs	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	WXS	Illumina GAIIx	Phase_I	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		5	2823_2824	+	all_lung(29;0.0104)		114					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Frame_Shift_Ins	INS	ENST00000371085.3	37	c.2271_2272insC	CCDS13472.1																																																																																				0.559	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		22	936						22	936	---	---	---	---
OSBPL2	9885	broad.mit.edu	37	20	60854257	60854258	+	Frame_Shift_Ins	INS	-	-	C	rs79735057		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr20:60854257_60854258insC	ENST00000313733.3	+	7	738_739	c.536_537insC	c.(535-540)caccccfs	p.HP179fs	OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.HP87fs|OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.HP167fs	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		20	266						20	266	---	---	---	---
ETS2	2114	broad.mit.edu	37	21	40184981	40184981	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr21:40184981delC	ENST00000360214.3	+	4	587	c.127delC	c.(127-129)ctafs	p.L43fs	ETS2_ENST00000360938.3_Frame_Shift_Del_p.L43fs	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	43					cell differentiation (GO:0030154)|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, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TTTTCCTTCTCTAAATGAAGA	0.403																																						ENST00000360214.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(127-129)tafs		v-ets avian erythroblastosis virus E26 oncogene homolog 2							140.0	142.0	141.0					21																	40184981		2203	4300	6503	SO:0001589	frameshift_variant	2114				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:40184981delC		CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"""v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"""			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.127delC	21.37:g.40184981delC	ENSP00000353344:p.Leu43fs		Somatic				ETS2_ENST00000360938.3_Frame_Shift_Del_p.L43fs	p.L43fs	NM_001256295.1	NP_001243224.1	WXS	Illumina GAIIx	Phase_I	P15036	ETS2_HUMAN			4	587	+		Prostate(19;6.33e-08)|all_epithelial(19;0.123)	43					A6NM68|D3DSH6|Q53Y89	Frame_Shift_Del	DEL	ENST00000360214.3	37	c.127delC	CCDS13659.1																																																																																				0.403	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1			9	509						9	509	---	---	---	---
PDE9A	5152	broad.mit.edu	37	21	44171249	44171250	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr21:44171249_44171250insT	ENST00000291539.6	+	9	737_738	c.677_678insT	c.(676-681)agttttfs	p.SF226fs	PDE9A_ENST00000539837.1_Frame_Shift_Ins_p.SF98fs|PDE9A_ENST00000398227.3_Frame_Shift_Ins_p.SF66fs|PDE9A_ENST00000398229.3_Frame_Shift_Ins_p.SF92fs|PDE9A_ENST00000349112.3_Frame_Shift_Ins_p.SF98fs|PDE9A_ENST00000398224.3_Frame_Shift_Ins_p.SF99fs|PDE9A_ENST00000335440.6_Frame_Shift_Ins_p.SF124fs|PDE9A_ENST00000328862.6_Frame_Shift_Ins_p.SF200fs|PDE9A_ENST00000335512.4_Frame_Shift_Ins_p.SF166fs|PDE9A_ENST00000398232.3_Frame_Shift_Ins_p.SF159fs|PDE9A_ENST00000380328.2_Frame_Shift_Ins_p.SF173fs|PDE9A_ENST00000398225.3_Frame_Shift_Ins_p.SF185fs|PDE9A_ENST00000398234.3_Frame_Shift_Ins_p.SF125fs|PDE9A_ENST00000398236.3_Frame_Shift_Ins_p.SF140fs|PDE9A_ENST00000470987.1_3'UTR	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	226					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	TGTAAGTACAGTTTTTTGGATA	0.52																																						ENST00000291539.6																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(676-678)attfs		phosphodiesterase 9A																																				SO:0001589	frameshift_variant	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44171249_44171250insT	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.683dupT	21.37:g.44171255_44171255dupT	ENSP00000291539:p.Ser226fs		Somatic				PDE9A_ENST00000349112.3_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000398236.3_Frame_Shift_Ins_p.I140fs|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398224.3_Frame_Shift_Ins_p.I99fs|PDE9A_ENST00000398225.3_Frame_Shift_Ins_p.I185fs|PDE9A_ENST00000335512.4_Frame_Shift_Ins_p.I166fs|PDE9A_ENST00000539837.1_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000398229.3_Frame_Shift_Ins_p.I92fs|PDE9A_ENST00000398232.3_Frame_Shift_Ins_p.I159fs|PDE9A_ENST00000398234.3_Frame_Shift_Ins_p.I125fs|PDE9A_ENST00000328862.6_Frame_Shift_Ins_p.I200fs|PDE9A_ENST00000335440.6_Frame_Shift_Ins_p.I124fs|PDE9A_ENST00000380328.2_Frame_Shift_Ins_p.I173fs|PDE9A_ENST00000398227.3_Frame_Shift_Ins_p.I66fs	p.I226fs	NM_002606.2	NP_002597.1	WXS	Illumina GAIIx	Phase_I	O76083	PDE9A_HUMAN			9	737_738	+			226					B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Frame_Shift_Ins	INS	ENST00000291539.6	37	c.677_678insT	CCDS13690.1																																																																																				0.520	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			11	307						11	307	---	---	---	---
MCM3AP	8888	broad.mit.edu	37	21	47685950	47685951	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr21:47685950_47685951insG	ENST00000397708.1	-	12	3173_3174	c.2919_2920insC	c.(2917-2922)cccgtcfs	p.V974fs	MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.V974fs			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	974	SAC3 homology.				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)					TGACGAGGGACGGGGGGCAATG	0.589																																						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.(2917-2922)cctcccfs		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.chr21:47685950_47685951insG	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.2920dupC	21.37:g.47685956_47685956dupG	ENSP00000380820:p.Val974fs		Somatic				MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.P974fs	p.P974fs			WXS	Illumina GAIIx	Phase_I	O60318	MCM3A_HUMAN			12	3173_3174	-	Breast(49;0.112)		974					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Frame_Shift_Ins	INS	ENST00000397708.1	37	c.2919_2920insC	CCDS13734.1																																																																																				0.589	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		9	223						9	223	---	---	---	---
ZNF280A	129025	broad.mit.edu	37	22	22869526	22869527	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:22869526_22869527insG	ENST00000302097.3	-	2	680_681	c.428_429insC	c.(427-429)ccafs	p.P143fs	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	143					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ACTGAGTCCCTGGGGGGAGCGA	0.455																																						ENST00000302097.3																			0				endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18						c.(427-429)cggfs		zinc finger protein 280A																																				SO:0001589	frameshift_variant	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22869526_22869527insG	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.429dupC	22.37:g.22869532_22869532dupG	ENSP00000302855:p.Pro143fs		Somatic					p.R143fs	NM_080740.3	NP_542778.1	WXS	Illumina GAIIx	Phase_I	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	680_681	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	143						Frame_Shift_Ins	INS	ENST00000302097.3	37	c.428_429insC	CCDS13800.1																																																																																				0.455	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		10	461						10	461	---	---	---	---
DRICH1	51233	broad.mit.edu	37	22	23974047	23974048	+	In_Frame_Ins	INS	-	-	CAG			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:23974047_23974048insCAG	ENST00000317749.5	-	1	460_461	c.163_164insCTG	c.(163-165)gag>gCTGag	p.54_55insA	KB-1572G7.3_ENST00000390329.3_RNA	NM_016449.3	NP_057533.2	Q6PGQ1	DRIC1_HUMAN		54										endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						GTCTTGGCCCTCCGTGGCTCCC	0.54																																						ENST00000317749.5																			0				endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						c.(163-165)ggg>CTGggg		chromosome 22 open reading frame 43																																				SO:0001652	inframe_insertion	51233							g.chr22:23974047_23974048insCAG																												ENST00000317749.5:c.163_164insCTG	22.37:g.23974047_23974048insCAG	ENSP00000316137:p.Thr54_Glu55insAla		Somatic				C22orf43_ENST00000460169.1_5'UTR	p.54_55insL	NM_016449.3	NP_057533.2	WXS	Illumina GAIIx	Phase_I	Q6PGQ1	CV043_HUMAN			1	460_461	-			54					Q6ICJ8|Q6P4I3|Q9NU31	In_Frame_Ins	INS	ENST00000317749.5	37	c.163_164insCTG	CCDS42985.1																																																																																				0.540	C22orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319708.2			10	208						10	208	---	---	---	---
ZNF70	7621	broad.mit.edu	37	22	24087085	24087086	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	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		11	1459						11	1459	---	---	---	---
ASPHD2	57168	broad.mit.edu	37	22	26838458	26838459	+	Frame_Shift_Ins	INS	-	-	G	rs201336246	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:26838458_26838459insG	ENST00000215906.5	+	3	1358_1359	c.920_921insG	c.(919-924)gtggggfs	p.VG307fs	HPS4_ENST00000493455.2_5'Flank	NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	307					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GAGCTGGTGGTGGGGGGAGAGC	0.559																																						ENST00000215906.5																			0				endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						c.(919-921)gggfs		aspartate beta-hydroxylase domain containing 2																																				SO:0001589	frameshift_variant	57168				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	g.chr22:26838458_26838459insG	AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.926dupG	22.37:g.26838464_26838464dupG	ENSP00000215906:p.Val307fs		Somatic					p.G307fs	NM_020437.4	NP_065170.2	WXS	Illumina GAIIx	Phase_I	Q6ICH7	ASPH2_HUMAN			3	1358_1359	+			307					B2RCH3|Q7L0W3|Q9NSN3	Frame_Shift_Ins	INS	ENST00000215906.5	37	c.920_921insG	CCDS13834.2																																																																																				0.559	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1	NM_020437		13	1021						13	1021	---	---	---	---
CRYBA4	1413	broad.mit.edu	37	22	27021497	27021498	+	Frame_Shift_Ins	INS	-	-	A	rs199635152	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:27021497_27021498insA	ENST00000354760.3	+	4	246_247	c.211_212insA	c.(211-213)cgafs	p.R71fs	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	71	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)	p.R71*(1)		large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						CATTCTGGAACGAGGCGAATAT	0.624																																						ENST00000354760.3																			1	Substitution - Nonsense(1)	p.R71*(1)	large_intestine(1)	large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						c.(211-213)aggfs		crystallin, beta A4																																				SO:0001589	frameshift_variant	1413				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	g.chr22:27021497_27021498insA		CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	Exception_encountered	22.37:g.27021497_27021498insA	ENSP00000346805:p.Arg71fs		Somatic				CRYBA4_ENST00000466315.1_3'UTR	p.R71fs	NM_001886.2	NP_001877.1	WXS	Illumina GAIIx	Phase_I	P53673	CRBA4_HUMAN			4	246_247	+			71			Beta/gamma crystallin 'Greek key' 2.		Q4VB22|Q6ICE4	Frame_Shift_Ins	INS	ENST00000354760.3	37	c.211_212insA	CCDS13841.1																																																																																				0.624	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320793.1	NM_001886		139	343						139	343	---	---	---	---
THOC5	8563	broad.mit.edu	37	22	29925230	29925231	+	Splice_Site	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:29925230_29925231insG	ENST00000490103.1	-	9	970		c.e9-2		THOC5_ENST00000397871.1_Splice_Site|THOC5_ENST00000397872.1_Splice_Site|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397873.2_Splice_Site	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5						blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACGTCTTATCTGGGGGGCAAGA	0.535																																						ENST00000490103.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.e9-2		THO complex 5			,,,	0,4264		0,0,2132					,,,	5.4	1.0			108	1,8253		0,1,4126	no	splice-3,splice-3,splice-3,splice-3	THOC5	NM_003678.4,NM_001002879.1,NM_001002878.1,NM_001002877.1	,,,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,,,	,,,		1,12517				SO:0001630	splice_region_variant	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29925230_29925231insG	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.848-2->C	22.37:g.29925236_29925236dupG			Somatic				THOC5_ENST00000397871.1_Splice_Site|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397872.1_Splice_Site|THOC5_ENST00000397873.2_Splice_Site		NM_003678.4	NP_003669.4	WXS	Illumina GAIIx	Phase_I	Q13769	THOC5_HUMAN			9	970	-								O60839|Q9UPZ5	Splice_Site	INS	ENST00000490103.1	37		CCDS13859.1																																																																																				0.535	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678	Intron	18	1066						18	1066	---	---	---	---
MTMR3	8897	broad.mit.edu	37	22	30415990	30415991	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:30415990_30415991insC	ENST00000401950.2	+	17	2684_2685	c.2342_2343insC	c.(2341-2346)gtccccfs	p.VP781fs	CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Frame_Shift_Ins_p.VP781fs|MTMR3_ENST00000406629.1_Frame_Shift_Ins_p.VP781fs|MTMR3_ENST00000333027.3_Frame_Shift_Ins_p.VP781fs|MTMR3_ENST00000323630.5_Frame_Shift_Ins_p.VP645fs|CTA-85E5.10_ENST00000453743.2_RNA	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	781					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TCTCTCCAGGTCCCCCCCAGGG	0.554																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(2341-2343)gccfs		myotubularin related protein 3																																				SO:0001589	frameshift_variant	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30415990_30415991insC	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2349dupC	22.37:g.30415997_30415997dupC	ENSP00000384651:p.Val781fs		Somatic				MTMR3_ENST00000401950.2_Frame_Shift_Ins_p.A781fs|MTMR3_ENST00000351488.3_Frame_Shift_Ins_p.A781fs|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Frame_Shift_Ins_p.A645fs|MTMR3_ENST00000406629.1_Frame_Shift_Ins_p.A781fs	p.A781fs	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	WXS	Illumina GAIIx	Phase_I	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		17	2670_2671	+			781					A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Frame_Shift_Ins	INS	ENST00000401950.2	37	c.2342_2343insC	CCDS13870.1																																																																																				0.554	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		11	279						11	279	---	---	---	---
TBC1D10A	83874	broad.mit.edu	37	22	30691731	30691732	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:30691731_30691732insC	ENST00000215790.7	-	4	682_683	c.518_519insG	c.(517-519)ggcfs	p.G173fs	RP1-130H16.18_ENST00000447976.1_Frame_Shift_Ins_p.G47fs|TBC1D10A_ENST00000403362.1_Frame_Shift_Ins_p.G85fs|TBC1D10A_ENST00000403477.3_Frame_Shift_Ins_p.G180fs	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	173	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CTCACCCGTGGCCCCCCCGGGA	0.609																																						ENST00000215790.7																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(517-519)gcafs		TBC1 domain family, member 10A																																				SO:0001589	frameshift_variant	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30691731_30691732insC	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.519dupG	22.37:g.30691738_30691738dupC	ENSP00000215790:p.Gly173fs		Somatic				TBC1D10A_ENST00000403477.3_Frame_Shift_Ins_p.A180fs|TBC1D10A_ENST00000403362.1_Frame_Shift_Ins_p.A85fs|RP1-130H16.18_ENST00000447976.1_Frame_Shift_Ins_p.A47fs	p.A173fs	NM_031937.2	NP_114143.1	WXS	Illumina GAIIx	Phase_I	Q9BXI6	TB10A_HUMAN			4	682_683	-			173			Rab-GAP TBC.		B3KXT8|O76053|Q20WK7|Q543A2	Frame_Shift_Ins	INS	ENST00000215790.7	37	c.518_519insG	CCDS13874.1																																																																																				0.609	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		16	268						16	268	---	---	---	---
SLC35E4	339665	broad.mit.edu	37	22	31032723	31032724	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:31032723_31032724insG	ENST00000343605.4	+	1	1085_1086	c.286_287insG	c.(286-288)cggfs	p.R96fs	SLC35E4_ENST00000300385.8_Frame_Shift_Ins_p.R96fs|SLC35E4_ENST00000406566.1_Frame_Shift_Ins_p.R96fs	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	96						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GGCATGCCACCGGGGGGCACGG	0.663																																						ENST00000343605.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						c.(286-288)gggfs		solute carrier family 35, member E4																																				SO:0001589	frameshift_variant	339665					integral to membrane		g.chr22:31032723_31032724insG		CCDS13882.1	22q12.2	2013-05-22			ENSG00000100036	ENSG00000100036		"""Solute carriers"""	17058	protein-coding gene	gene with protein product							Standard	NM_001001479		Approved		uc003ais.1	Q6ICL7	OTTHUMG00000151110	ENST00000343605.4:c.292dupG	22.37:g.31032729_31032729dupG	ENSP00000339626:p.Arg96fs		Somatic				SLC35E4_ENST00000300385.8_Frame_Shift_Ins_p.G96fs|SLC35E4_ENST00000406566.1_Frame_Shift_Ins_p.G96fs	p.G96fs	NM_001001479.2	NP_001001479.1	WXS	Illumina GAIIx	Phase_I	Q6ICL7	S35E4_HUMAN			1	1085_1086	+			96					Q567P0	Frame_Shift_Ins	INS	ENST00000343605.4	37	c.286_287insG	CCDS13882.1																																																																																				0.663	SLC35E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321382.1	XM_290973		9	279						9	279	---	---	---	---
TIMP3	7078	broad.mit.edu	37	22	33255323	33255324	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:33255323_33255324insC	ENST00000266085.6	+	5	896_897	c.595_596insC	c.(595-597)gccfs	p.A199fs	SYN3_ENST00000332840.5_Intron|SYN3_ENST00000358763.2_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	199					cellular response to organic substance (GO:0071310)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						CCGAGGATGGGCCCCCCCGGAT	0.604																																						ENST00000266085.6																			0				endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						c.(595-597)cccfs		TIMP metallopeptidase inhibitor 3																																				SO:0001589	frameshift_variant	7078				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding	g.chr22:33255323_33255324insC		CCDS13911.1	22q12.3	2013-01-08	2008-07-31		ENSG00000100234	ENSG00000100234			11822	protein-coding gene	gene with protein product		188826	"""tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory)"""	SFD		8188246, 12652295	Standard	NM_000362		Approved		uc003anb.3	P35625	OTTHUMG00000030784	ENST00000266085.6:c.602dupC	22.37:g.33255330_33255330dupC	ENSP00000266085:p.Ala199fs		Somatic				SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	p.P199fs	NM_000362.4	NP_000353.1	WXS	Illumina GAIIx	Phase_I	P35625	TIMP3_HUMAN			5	896_897	+			199					B2RBY9|Q5THV4|Q9UC74|Q9UGS2	Frame_Shift_Ins	INS	ENST00000266085.6	37	c.595_596insC	CCDS13911.1																																																																																				0.604	TIMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075672.2	NM_000362		11	120						11	120	---	---	---	---
TMPRSS6	164656	broad.mit.edu	37	22	37499435	37499436	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:37499435_37499436insG	ENST00000346753.3	-	2	165_166	c.49_50insC	c.(49-51)cagfs	p.Q17fs	TMPRSS6_ENST00000381792.2_Frame_Shift_Ins_p.Q8fs|TMPRSS6_ENST00000406856.1_Frame_Shift_Ins_p.Q8fs|TMPRSS6_ENST00000406725.1_Frame_Shift_Ins_p.Q8fs|TMPRSS6_ENST00000442782.2_Frame_Shift_Ins_p.Q17fs	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	17					angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GCCAGCCACCTGGGGGGCCTCG	0.658																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(22-24)ggtfs		transmembrane protease, serine 6																																				SO:0001589	frameshift_variant	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37499435_37499436insG	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.50dupC	22.37:g.37499441_37499441dupG	ENSP00000334962:p.Gln17fs		Somatic				TMPRSS6_ENST00000406725.1_Frame_Shift_Ins_p.G8fs|TMPRSS6_ENST00000406856.1_Frame_Shift_Ins_p.G8fs|TMPRSS6_ENST00000346753.3_Frame_Shift_Ins_p.G17fs|TMPRSS6_ENST00000442782.2_Frame_Shift_Ins_p.G17fs	p.G8fs			WXS	Illumina GAIIx	Phase_I	Q8IU80	TMPS6_HUMAN			2	162_163	-			17					B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Frame_Shift_Ins	INS	ENST00000346753.3	37	c.22_23insC	CCDS13941.1																																																																																				0.658	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		12	769						12	769	---	---	---	---
ATF4	468	broad.mit.edu	37	22	39917950	39917951	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:39917950_39917951insC	ENST00000337304.2	+	2	1281_1282	c.399_400insC	c.(400-402)cccfs	p.P134fs	ATF4_ENST00000404241.2_Frame_Shift_Ins_p.P134fs|ATF4_ENST00000396680.1_Frame_Shift_Ins_p.P134fs	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	134					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	CTAATAAGCAGCCCCCCCAGAC	0.525																																						ENST00000337304.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(397-402)caccccfs		activating transcription factor 4																																				SO:0001589	frameshift_variant	468				cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:39917950_39917951insC	D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"""basic leucine zipper proteins"""	786	protein-coding gene	gene with protein product	"""tax-responsive enhancer element B67"""	604064	"""activating transcription factor 4 (tax-responsive enhancer element B67)"""	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.406dupC	22.37:g.39917957_39917957dupC	ENSP00000336790:p.Pro134fs		Somatic				ATF4_ENST00000396680.1_Frame_Shift_Ins_p.HP133fs|ATF4_ENST00000404241.2_Frame_Shift_Ins_p.HP133fs	p.HP133fs	NM_001675.2	NP_001666.2	WXS	Illumina GAIIx	Phase_I	P18848	ATF4_HUMAN			2	1281_1282	+	Melanoma(58;0.04)		133					Q9UH31	Frame_Shift_Ins	INS	ENST00000337304.2	37	c.399_400insC	CCDS13996.1																																																																																				0.525	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1	NM_001675		20	403						20	403	---	---	---	---
EP300	2033	broad.mit.edu	37	22	41574678	41574679	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:41574678_41574679insC	ENST00000263253.7	+	31	8182_8183	c.6963_6964insC	c.(6964-6966)cccfs	p.P2322fs	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2322					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CACAGTCCCAGCCCCCCCACTC	0.609			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(6961-6966)caccccfs		E1A binding protein p300																																				SO:0001589	frameshift_variant	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41574678_41574679insC	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6970dupC	22.37:g.41574685_41574685dupC	ENSP00000263253:p.Pro2322fs		Somatic				RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	p.HP2321fs	NM_001429.3	NP_001420.2	WXS	Illumina GAIIx	Phase_I	Q09472	EP300_HUMAN			31	8182_8183	+			2321					B1AKC2	Frame_Shift_Ins	INS	ENST00000263253.7	37	c.6963_6964insC	CCDS14010.1																																																																																				0.609	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		8	133						8	133	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610947	42610948	+	Frame_Shift_Ins	INS	-	-	G	rs138734341		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:42610947_42610948insG	ENST00000359486.3	-	1	500_501	c.364_365insC	c.(364-366)cagfs	p.Q122fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.Q122fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	122				Q -> R (in Ref. 1). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGCTCCCCTGGGGGGGTCCA	0.564																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(364-366)gggfs		transcription factor 20 (AR1)																																				SO:0001589	frameshift_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610947_42610948insG	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.365dupC	22.37:g.42610954_42610954dupG	ENSP00000352463:p.Gln122fs		Somatic				TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs	p.G122fs	NM_005650.1	NP_005641.1	WXS	Illumina GAIIx	Phase_I	Q9UGU0	TCF20_HUMAN			1	500_501	-			122	Q -> R (in Ref. 1).				A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Frame_Shift_Ins	INS	ENST00000359486.3	37	c.364_365insC	CCDS14033.1																																																																																				0.564	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		27	488						27	488	---	---	---	---
MOV10L1	54456	broad.mit.edu	37	22	50553619	50553620	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chr22:50553619_50553620insG	ENST00000262794.5	+	8	1286_1287	c.1203_1204insG	c.(1204-1206)gggfs	p.G402fs	MOV10L1_ENST00000545383.1_Frame_Shift_Ins_p.G402fs|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Frame_Shift_Ins_p.G402fs|MOV10L1_ENST00000540615.1_Frame_Shift_Ins_p.G382fs	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	402					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGCCTGAGCCTGGGGGGCTTGT	0.46																																						ENST00000262794.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(1201-1206)ccggggfs		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)																																				SO:0001589	frameshift_variant	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50553619_50553620insG	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1209dupG	22.37:g.50553625_50553625dupG	ENSP00000262794:p.Gly402fs		Somatic				MOV10L1_ENST00000395858.3_Frame_Shift_Ins_p.PG401fs|MOV10L1_ENST00000540615.1_Frame_Shift_Ins_p.PG381fs|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Frame_Shift_Ins_p.PG401fs	p.PG401fs	NM_018995.2	NP_061868.1	WXS	Illumina GAIIx	Phase_I	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	8	1286_1287	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	401					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Frame_Shift_Ins	INS	ENST00000262794.5	37	c.1203_1204insG	CCDS14084.1																																																																																				0.460	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		9	730						9	730	---	---	---	---
DHRSX	207063	broad.mit.edu	37	X	2343335	2343336	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:2343335_2343336insG	ENST00000334651.5	-	2	171_172	c.119_120insC	c.(118-120)ccafs	p.P40fs		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	40							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GGTCAGGTCGTGGGGGGAAAAC	0.455																																						ENST00000334651.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16						c.(118-120)ccgfs		dehydrogenase/reductase (SDR family) X-linked																																				SO:0001589	frameshift_variant	207063						binding|oxidoreductase activity	g.chrX:2343335_2343336insG	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.120dupC	X.37:g.2343341_2343341dupG	ENSP00000334113:p.Pro40fs		Somatic					p.P40fs	NM_145177.2	NP_660160.2	WXS	Illumina GAIIx	Phase_I	Q8N5I4	DHRSX_HUMAN			2	171_172	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	40					Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Frame_Shift_Ins	INS	ENST00000334651.5	37	c.119_120insC	CCDS35195.1																																																																																				0.455	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177		8	195						8	195	---	---	---	---
ARSF	416	broad.mit.edu	37	X	3007554	3007555	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:3007554_3007555insC	ENST00000381127.1	+	7	1069_1070	c.848_849insC	c.(847-852)ttccttfs	p.L284fs	ARSF_ENST00000537104.1_Frame_Shift_Ins_p.L284fs|ARSF_ENST00000359361.2_Frame_Shift_Ins_p.L284fs	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	284					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AAGGAAACTTTCCTTCTCTTTT	0.426																																						ENST00000381127.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38						c.(847-849)tctfs		arylsulfatase F																																				SO:0001589	frameshift_variant	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3007554_3007555insC	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.850dupC	X.37:g.3007556_3007556dupC	ENSP00000370519:p.Leu284fs		Somatic				ARSF_ENST00000359361.2_Frame_Shift_Ins_p.S283fs|ARSF_ENST00000537104.1_Frame_Shift_Ins_p.S283fs	p.S283fs	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	WXS	Illumina GAIIx	Phase_I	P54793	ARSF_HUMAN			7	1069_1070	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	283					Q8TCC5	Frame_Shift_Ins	INS	ENST00000381127.1	37	c.848_849insC	CCDS14123.1																																																																																				0.426	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			80	1551						80	1551	---	---	---	---
ZNF645	158506	broad.mit.edu	37	X	22291220	22291221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:22291220_22291221insG	ENST00000323684.1	+	1	156_157	c.112_113insG	c.(112-114)tggfs	p.W38fs		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	38					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TGGTTACCGTTGGGGGGACATT	0.351																																						ENST00000323684.1																			0				cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(112-114)gggfs		zinc finger protein 645																																				SO:0001589	frameshift_variant	158506					intracellular	zinc ion binding	g.chrX:22291220_22291221insG	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.118dupG	X.37:g.22291226_22291226dupG	ENSP00000323348:p.Trp38fs		Somatic					p.G38fs	NM_152577.3	NP_689790.1	WXS	Illumina GAIIx	Phase_I	Q8N7E2	ZN645_HUMAN			1	156_157	+			38					A0AV29|A0AV31|E3SBK4|Q6DJY9	Frame_Shift_Ins	INS	ENST00000323684.1	37	c.112_113insG	CCDS14205.1																																																																																				0.351	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	NM_152577		7	797						7	797	---	---	---	---
USP11	8237	broad.mit.edu	37	X	47099225	47099227	+	In_Frame_Del	DEL	TAC	TAC	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:47099225_47099227delTAC	ENST00000218348.3	+	4	583_585	c.583_585delTAC	c.(583-585)tacdel	p.Y195del	USP11_ENST00000377107.2_In_Frame_Del_p.Y152del	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	195					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GGTCGAAGTGTACCCAGTAGAAC	0.502																																						ENST00000377107.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						c.(454-456)del		ubiquitin specific peptidase 11																																				SO:0001651	inframe_deletion	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47099225_47099227delTAC	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.583_585delTAC	X.37:g.47099225_47099227delTAC	ENSP00000218348:p.Tyr195del		Somatic				USP11_ENST00000218348.3_In_Frame_Del_p.Y195del	p.Y152del			WXS	Illumina GAIIx	Phase_I	P51784	UBP11_HUMAN			4	808_810	+			195			DUSP.		B2RTX1|Q8IUG6|Q9BWE1	In_Frame_Del	DEL	ENST00000218348.3	37	c.454_456delTAC	CCDS14277.1																																																																																				0.502	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		16	420						16	420	---	---	---	---
SSX3	10214	broad.mit.edu	37	X	48207024	48207025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:48207024_48207025insC	ENST00000298396.2	-	7	533_534	c.481_482insG	c.(481-483)gaafs	p.E161fs	SSX3_ENST00000376895.1_Frame_Shift_Ins_p.E73fs	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(1)|lung(9)	13						CCAGGCATGTTCCCCCCTTTTG	0.48																																					Colon(37;227 826 19399 40970 48007)	ENST00000298396.2																			0				endometrium(3)|large_intestine(1)|lung(9)	13						c.(481-483)acafs		synovial sarcoma, X breakpoint 3																																				SO:0001589	frameshift_variant	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48207024_48207025insC	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.482dupG	X.37:g.48207030_48207030dupC	ENSP00000298396:p.Glu161fs		Somatic				SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs	p.T161fs	NM_021014.2	NP_066294.1	WXS	Illumina GAIIx	Phase_I	Q99909	SSX3_HUMAN			7	533_534	-			161					O60223|Q5JQZ3|Q9BRW7	Frame_Shift_Ins	INS	ENST00000298396.2	37	c.481_482insG	CCDS14291.1																																																																																				0.480	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		20	1694						20	1694	---	---	---	---
SHROOM4	57477	broad.mit.edu	37	X	50345633	50345634	+	Splice_Site	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:50345633_50345634insT	ENST00000289292.7	-	7	4224_4225	c.3941_3942insA	c.(3940-3942)aag>aaAg	p.K1314fs	SHROOM4_ENST00000376020.2_Splice_Site_p.K1314fs|SHROOM4_ENST00000460112.3_Splice_Site_p.K1198fs			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1314	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				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)	p.K1314fs*23(1)		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)					AAAACTTTACCTTTTTTTGAGC	0.45																																						ENST00000376020.2																			1	Deletion - Frameshift(1)	p.K1314fs*23(1)	large_intestine(1)	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.e7+1		shroom family member 4																																				SO:0001630	splice_region_variant	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:50345633_50345634insT	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.3942+1->A	X.37:g.50345640_50345640dupT			Somatic				SHROOM4_ENST00000289292.7_Splice_Site_p.N1314_splice|SHROOM4_ENST00000460112.3_Splice_Site_p.N1198_splice	p.N1314_splice	NM_020717.3	NP_065768.2	WXS	Illumina GAIIx	Phase_I	Q9ULL8	SHRM4_HUMAN			7	3966_3967	-	Ovarian(276;0.236)		1314			ASD2.		A7E2X9|D6RFW0|Q96LA0	Splice_Site	INS	ENST00000289292.7	37	c.3942_splice	CCDS35277.1																																																																																				0.450	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717	Frame_Shift_Ins	8	781						8	781	---	---	---	---
OPHN1	4983	broad.mit.edu	37	X	67283963	67283964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:67283963_67283964insG	ENST00000355520.5	-	21	2531_2532	c.1890_1891insC	c.(1888-1893)cccaagfs	p.K631fs	OPHN1_ENST00000484842.1_5'UTR|OPHN1_ENST00000540071.1_Intron	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	631	Pro-rich.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TGTGGTGGCTTGGGGGGTTCTA	0.475																																						ENST00000355520.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						c.(1888-1893)ccagccfs		oligophrenin 1																																				SO:0001589	frameshift_variant	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67283963_67283964insG	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.1891dupC	X.37:g.67283969_67283969dupG	ENSP00000347710:p.Lys631fs		Somatic				OPHN1_ENST00000540071.1_Intron|OPHN1_ENST00000484842.1_5'UTR	p.A631fs	NM_002547.2	NP_002538.1	WXS	Illumina GAIIx	Phase_I	O60890	OPHN1_HUMAN			21	2531_2532	-			631			Pro-rich.		B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Frame_Shift_Ins	INS	ENST00000355520.5	37	c.1890_1891insC	CCDS14388.1																																																																																				0.475	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547		8	802						8	802	---	---	---	---
DCX	1641	broad.mit.edu	37	X	110644444	110644445	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:110644444_110644445insG	ENST00000338081.3	-	3	892_893	c.721_722insC	c.(721-723)cagfs	p.Q241fs	DCX_ENST00000488120.1_Frame_Shift_Ins_p.Q160fs|DCX_ENST00000356915.2_Frame_Shift_Ins_p.Q160fs|DCX_ENST00000371993.2_Frame_Shift_Ins_p.Q160fs|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356220.3_Frame_Shift_Ins_p.Q160fs	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	241					axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AGCCAAGGACTGGGGGGCTTTC	0.51																																						ENST00000338081.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						c.(721-723)gtcfs		doublecortin																																				SO:0001589	frameshift_variant	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110644444_110644445insG	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.722dupC	X.37:g.110644450_110644450dupG	ENSP00000337697:p.Gln241fs		Somatic				DCX_ENST00000488120.1_Frame_Shift_Ins_p.V160fs|DCX_ENST00000356220.3_Frame_Shift_Ins_p.V160fs|DCX_ENST00000356915.2_Frame_Shift_Ins_p.V160fs|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Frame_Shift_Ins_p.V160fs	p.V241fs	NM_000555.3	NP_000546.2	WXS	Illumina GAIIx	Phase_I	O43602	DCX_HUMAN			3	892_893	-			241					A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Frame_Shift_Ins	INS	ENST00000338081.3	37	c.721_722insC	CCDS14556.1																																																																																				0.510	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		10	570						10	570	---	---	---	---
ZDHHC9	51114	broad.mit.edu	37	X	128945383	128945384	+	Splice_Site	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:128945383_128945384insG	ENST00000357166.6	-	9	1270_1271	c.879_880insC	c.(877-882)cccagt>cccCagt	p.S294fs	ZDHHC9_ENST00000371064.3_Splice_Site_p.S294fs	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	294					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|Ras palmitoyltransferase activity (GO:0043849)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						CCTGAGCACCTGGGGGGCAAGG	0.525																																						ENST00000357166.6																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						c.e9+1		zinc finger, DHHC-type containing 9																																				SO:0001630	splice_region_variant	51114					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acyltransferase activity|zinc ion binding	g.chrX:128945383_128945384insG	AF151847	CCDS35395.1	Xq26.1	2008-02-05			ENSG00000188706	ENSG00000188706		"""Zinc fingers, DHHC-type"""	18475	protein-coding gene	gene with protein product		300646	"""zinc finger, DHHC-type containing 10"", ""chromosome X open reading frame 11"""	ZDHHC10, CXorf11		10810093	Standard	NM_001008222		Approved	ZNF379, CGI-89, ZNF380	uc004euw.3	Q9Y397	OTTHUMG00000022375	ENST00000357166.6:c.881+1->C	X.37:g.128945389_128945389dupG			Somatic				ZDHHC9_ENST00000371064.3_Splice_Site_p.C294_splice	p.C294_splice	NM_016032.3	NP_057116.2	WXS	Illumina GAIIx	Phase_I	Q9Y397	ZDHC9_HUMAN			9	1270_1271	-			294					B4F6G2|D3DTF9|Q59EK4|Q5JSW5|Q8WWS7|Q9BPY4|Q9NSP0|Q9NVL0|Q9NVR6	Splice_Site	INS	ENST00000357166.6	37	c.881_splice	CCDS35395.1																																																																																				0.525	ZDHHC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058213.1	NM_016032	Frame_Shift_Ins	7	259						7	259	---	---	---	---
IGSF1	3547	broad.mit.edu	37	X	130411113	130411114	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	7f666874-05ea-4988-937b-d122344f4ea6	g.chrX:130411113_130411114insG	ENST00000361420.3	-	14	2486_2487	c.2407_2408insC	c.(2407-2409)cacfs	p.H803fs	IGSF1_ENST00000370910.1_Frame_Shift_Ins_p.H794fs|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370903.3_Frame_Shift_Ins_p.H808fs|IGSF1_ENST00000370904.1_Frame_Shift_Ins_p.H794fs			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	803	Ig-like C2-type 8.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CATATGCTGGTGGGGGGTGGAG	0.51																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(2380-2382)ccafs		immunoglobulin superfamily, member 1																																				SO:0001589	frameshift_variant	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130411113_130411114insG	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.2408dupC	X.37:g.130411119_130411119dupG	ENSP00000355010:p.His803fs		Somatic				IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370903.3_Frame_Shift_Ins_p.P808fs|IGSF1_ENST00000370910.1_Frame_Shift_Ins_p.P794fs|IGSF1_ENST00000361420.3_Frame_Shift_Ins_p.P803fs	p.P794fs			WXS	Illumina GAIIx	Phase_I	Q8N6C5	IGSF1_HUMAN			20	3290_3291	-			803			Ig-like C2-type 8.		B5MEG2|H9KV64|O15070|Q9NTC8	Frame_Shift_Ins	INS	ENST00000361420.3	37	c.2380_2381insC	CCDS14629.1																																																																																				0.510	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			9	723						9	723	---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121238716	121238723	+	Splice_Site	DEL	ACCTACTG	ACCTACTG	-	rs375226226|rs544117810	byFrequency	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr3:121238716_121238723delACCTACTG	ENST00000264233.5	-	9	1591_1597	c.1463_1469delCAGTAGGT	c.(1462-1470)acagtaggt>at	p.TVG488fs	POLQ_ENST00000488282.1_5'Flank	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	488	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAACTCACTTACCTACTGTGTCCACTCC	0.428								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.e9+1	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta																																				SO:0001630	splice_region_variant	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121238716_121238723delACCTACTG	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.1468+1CAGTAGGT>-	3.37:g.121238716_121238723delACCTACTG			Somatic					p.488_splice	NM_199420.3	NP_955452.3	WXS	Illumina GAIIx	Phase_I	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	9	1591_1597	-			488			Helicase C-terminal.		O95160|Q6VMB5	Splice_Site	DEL	ENST00000264233.5	37	c.1468_splice	CCDS33833.1																																																																																				0.428	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420	Frame_Shift_Del	21	499						21	499	---	---	---	---
RPL34-AS1	285456	broad.mit.edu	37	4	109512924	109512925	+	lincRNA	INS	-	-	AG	rs397977573|rs555079328|rs60609975		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr4:109512924_109512925insAG	ENST00000507248.1	-	0	90					NR_026968.1				RPL34 antisense RNA 1 (head to head)																		aagaaagaaaaagagagagaga	0.351																																						ENST00000507248.1																			0																																																			285456							g.chr4:109512924_109512925insAG			4q25	2014-06-09	2012-10-15		ENSG00000234492	ENSG00000234492		"""Long non-coding RNAs"""	26749	non-coding RNA	RNA, long non-coding			"""RPL34 antisense RNA 1 (non-protein coding)"", ""RPL34 antisense RNA 1"""			24908062	Standard	NR_026968		Approved	FLJ37673, RP11-462C24.1	uc011cfl.1		OTTHUMG00000161030		4.37:g.109512933_109512934dupAG			Somatic						NR_026968.1		WXS	Illumina GAIIx	Phase_I					0	90	-									RNA	INS	ENST00000507248.1	37																																																																																						0.351	RPL34-AS1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000363481.1			3	3						3	3	---	---	---	---
HLA-V	352962	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs60681449|rs2905755|rs140982245	byFrequency	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243									major histocompatibility complex, class I, V (pseudogene)																		GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674																																						ENST00000457107.1																			0																																																			352962							g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29760353_29760373delGCGGGCGCCGTGGATGGAGCA			Somatic								WXS	Illumina GAIIx	Phase_I					0	223_243	+									RNA	DEL	ENST00000457107.1	37																																																																																						0.674	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		2	4						2	4	---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62254983	62254984	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr15:62254983_62254984insA	ENST00000261517.5	-	33	3472_3473	c.3399_3400insT	c.(3397-3402)attgtcfs	p.V1134fs	VPS13C_ENST00000395898.3_Frame_Shift_Ins_p.V1091fs|VPS13C_ENST00000249837.3_Frame_Shift_Ins_p.V1091fs|VPS13C_ENST00000395896.4_Frame_Shift_Ins_p.V1134fs	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ACATCTGTGACAATAATATTTT	0.322																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(3397-3402)attcacfs		vacuolar protein sorting 13 homolog C (S. cerevisiae)																																				SO:0001589	frameshift_variant	54832				protein localization			g.chr15:62254983_62254984insA	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.3400dupT	15.37:g.62254985_62254985dupA	ENSP00000261517:p.Val1134fs		Somatic				VPS13C_ENST00000249837.3_Frame_Shift_Ins_p.H1091fs|VPS13C_ENST00000395896.4_Frame_Shift_Ins_p.H1134fs|VPS13C_ENST00000395898.3_Frame_Shift_Ins_p.H1091fs	p.H1134fs	NM_020821.2	NP_065872.1	WXS	Illumina GAIIx	Phase_I	Q709C8	VP13C_HUMAN			33	3472_3473	-			1134						Frame_Shift_Ins	INS	ENST00000261517.5	37	c.3399_3400insT	CCDS32257.1																																																																																				0.322	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		30	150						30	150	---	---	---	---
RP11-19N8.2	0	broad.mit.edu	37	16	33030488	33030489	+	RNA	INS	-	-	GAAG	rs201524332	byFrequency	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr16:33030488_33030489insGAAG	ENST00000567619.1	-	0	499																											aaggaaggaaagaaggaaggaa	0.426														1867	0.372804	0.4652	0.2695	5008	,	,		26048	0.3363		0.3191	False		,,,				2504	0.4141					ENST00000567619.1																			0																																																			0							g.chr16:33030488_33030489insGAAG																													16.37:g.33030493_33030496dupGAAG			Somatic								WXS	Illumina GAIIx	Phase_I					0	499	-									RNA	INS	ENST00000567619.1	37																																																																																						0.426	RP11-19N8.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432089.1			5	1						5	1	---	---	---	---
ROCK1P1	727758	broad.mit.edu	37	18	118121	118121	+	RNA	DEL	T	T	-	rs200726076|rs59411625		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr18:118121delT	ENST00000608049.1	+	0	730					NR_033770.1				Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1																		GTTTGACTAATTTTTTTTTTA	0.214																																						ENST00000576266.1																			0																																																			727758							g.chr18:118121delT			18p11.32	2012-10-04			ENSG00000263006	ENSG00000263006			37832	pseudogene	pseudogene							Standard	NR_033770		Approved		uc002kke.3		OTTHUMG00000177913		18.37:g.118121delT			Somatic								WXS	Illumina GAIIx	Phase_I					0	529	+									RNA	DEL	ENST00000608049.1	37																																																																																						0.214	ROCK1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472417.1			6	4						6	4	---	---	---	---
LILRA4	23547	broad.mit.edu	37	19	54841975	54841975	+	IGR	DEL	C	C	-	rs11318140		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr19:54841975delC	ENST00000291759.4	-	0	1944				AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4						immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GAGCTTCCCTCtttttttttt	0.498																																						ENST00000507363.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr19:54841975delC	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355		19.37:g.54841975delC			Somatic								WXS	Illumina GAIIx	Phase_I					0	430	-								Q32MC4	RNA	DEL	ENST00000291759.4	37		CCDS12890.1																																																																																				0.498	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		2	4						2	4	---	---	---	---
COL18A1	80781	broad.mit.edu	37	21	46924414	46924422	+	In_Frame_Del	DEL	CCCGGCCCC	CCCGGCCCC	-	rs201180574|rs531174886	byFrequency	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01D-0966-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	7f666874-05ea-4988-937b-d122344f4ea6	g.chr21:46924414_46924422delCCCGGCCCC	ENST00000359759.4	+	33	4078_4086	c.4057_4065delCCCGGCCCC	c.(4057-4065)cccggccccdel	p.PGP1362del	SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_In_Frame_Del_p.PGP947del|COL18A1_ENST00000355480.5_In_Frame_Del_p.PGP1127del			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1362	Triple-helical region 9 (COL9).			Missing (in Ref. 1; AAC39658/AAC39659, 2; AAR83296/AAR83297/AAR83298, 4; AAH33715/ AAH63833 and 5; AAA51864). {ECO:0000305}.	angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTCCAGCCTgcccggcccccccggccccc	0.699																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(4057-4065)del		collagen, type XVIII, alpha 1			,	910,1318		167,576,371					,	1.2	0.7		dbSNP_130	6	2129,3271		280,1569,851	no	coding,coding	COL18A1	NM_130445.2,NM_030582.3	,	447,2145,1222	A1A1,A1R,RR		39.4259,40.8438,39.8401	,	,		3039,4589				SO:0001651	inframe_deletion	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46924414_46924422delCCCGGCCCC		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.4057_4065delCCCGGCCCC	21.37:g.46924423_46924431delCCCGGCCCC	ENSP00000352798:p.Pro1362_Pro1364del		Somatic				COL18A1_ENST00000355480.5_In_Frame_Del_p.PGP1127del|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_In_Frame_Del_p.PGP947del	p.PGP1362del			WXS	Illumina GAIIx	Phase_I	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	33	4078_4086	+			1362	Missing (in Ref. 1; AAC39658/AAC39659, 2; AAR83296/AAR83297/AAR83298, 4; AAH33715/ AAH63833 and 5; AAA51864).		Triple-helical region 9 (COL9).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	In_Frame_Del	DEL	ENST00000359759.4	37	c.4057_4065delCCCGGCCCC																																																																																					0.699	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			5	7						5	7	---	---	---	---
SLC2A5	6518	broad.mit.edu	37	1	9101933	9101934	+	Frame_Shift_Ins	INS	-	-	C	rs148745114		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:9101933_9101934insC	ENST00000377424.4	-	5	660_661	c.481_482insG	c.(481-483)gctfs	p.A161fs	SLC2A5_ENST00000536305.1_Frame_Shift_Ins_p.A102fs|SLC2A5_ENST00000535586.1_Frame_Shift_Ins_p.A46fs|SLC2A5_ENST00000377414.3_Frame_Shift_Ins_p.A161fs	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	161					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CACCCCGAGAGCCCCCCGCAGG	0.53																																						ENST00000377424.4																			0				endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36						c.(481-483)tctfs		solute carrier family 2 (facilitated glucose/fructose transporter), member 5																																				SO:0001589	frameshift_variant	6518				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity	g.chr1:9101933_9101934insC	BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"""Solute carriers"""	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.482dupG	1.37:g.9101939_9101939dupC	ENSP00000366641:p.Ala161fs		Somatic				SLC2A5_ENST00000536305.1_Frame_Shift_Ins_p.S102fs|SLC2A5_ENST00000377414.3_Frame_Shift_Ins_p.S161fs|SLC2A5_ENST00000535586.1_Frame_Shift_Ins_p.S46fs	p.S161fs	NM_003039.2	NP_003030.1	WXS	Illumina GAIIx	Phase_I	P22732	GTR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	5	660_661	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	161					Q14770|Q5T977|Q8IVB3	Frame_Shift_Ins	INS	ENST00000377424.4	37	c.481_482insG	CCDS99.1																																																																																				0.530	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004932.1	NM_003039		8	297						8	297	---	---	---	---
FBLIM1	54751	broad.mit.edu	37	1	16091532	16091533	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:16091532_16091533insC	ENST00000375766.3	+	3	694_695	c.54_55insC	c.(55-57)cccfs	p.P19fs	FBLIM1_ENST00000375771.1_Frame_Shift_Ins_p.P19fs|FBLIM1_ENST00000332305.5_Frame_Shift_Ins_p.P19fs|FBLIM1_ENST00000441801.2_Frame_Shift_Ins_p.P19fs|FBLIM1_ENST00000400773.1_Frame_Shift_Ins_p.P19fs	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	19	Filamin-binding.|Intrinsically disordered.				cell junction assembly (GO:0034329)|regulation of cell shape (GO:0008360)|regulation of integrin activation (GO:0033623)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|stress fiber (GO:0001725)	filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		TCACCCTGGCACCCCCGCGCCG	0.653																																						ENST00000375766.3																			0				large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16						c.(52-57)gcccccfs		filamin binding LIM protein 1																																				SO:0001589	frameshift_variant	54751				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	g.chr1:16091532_16091533insC		CCDS163.1, CCDS30609.1, CCDS44064.1	1p36.13	2014-04-07			ENSG00000162458	ENSG00000162458			24686	protein-coding gene	gene with protein product		607747				12679033, 12496242	Standard	XM_005245900		Approved	FBLP-1, CAL, migfilin	uc001axe.1	Q8WUP2	OTTHUMG00000003079	ENST00000375766.3:c.59dupC	1.37:g.16091537_16091537dupC	ENSP00000364921:p.Pro19fs		Somatic				FBLIM1_ENST00000441801.2_Frame_Shift_Ins_p.AP18fs|FBLIM1_ENST00000375771.1_Frame_Shift_Ins_p.AP18fs|FBLIM1_ENST00000332305.5_Frame_Shift_Ins_p.AP18fs|FBLIM1_ENST00000400773.1_Frame_Shift_Ins_p.AP18fs	p.AP18fs	NM_017556.2	NP_060026.2	WXS	Illumina GAIIx	Phase_I	Q8WUP2	FBLI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)	3	694_695	+		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	18			Filamin-binding.		B3KNY0|Q5VVE0|Q5VVE1|Q8IX23|Q96T00|Q9UFD6	Frame_Shift_Ins	INS	ENST00000375766.3	37	c.54_55insC	CCDS163.1																																																																																				0.653	FBLIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008511.3	NM_001024215		8	854						8	854	---	---	---	---
LOC100129138	100129138	broad.mit.edu	37	1	104615945	104615946	+	lincRNA	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:104615945_104615946insC	ENST00000418362.1	+	0	301_302					NR_033990.1																						GCTTGAGAAGGCCCCCCGACAA	0.559																																						ENST00000418362.1																			0																																																			100129138							g.chr1:104615945_104615946insC																													1.37:g.104615951_104615951dupC			Somatic						NR_033990.1		WXS	Illumina GAIIx	Phase_I					0	301_302	+									RNA	INS	ENST00000418362.1	37																																																																																						0.559	RP11-364B6.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000030377.1			2	4						2	4	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144854629	144854629	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:144854629delC	ENST00000369354.3	-	42	7030	c.6841delG	c.(6841-6843)gaafs	p.E2281fs	PDE4DIP_ENST00000369356.4_Frame_Shift_Del_p.E2281fs|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.E2175fs|PDE4DIP_ENST00000369359.4_Frame_Shift_Del_p.E2417fs|PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.E2366fs			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2281					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTCTCAGTTCCAGAAGTTCC	0.488			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(7249-7251)aafs		phosphodiesterase 4D interacting protein							254.0	217.0	229.0					1																	144854629		2203	4300	6503	SO:0001589	frameshift_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144854629delC	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6841delG	1.37:g.144854629delC	ENSP00000358360:p.Glu2281fs		Somatic				PDE4DIP_ENST00000369356.4_Frame_Shift_Del_p.E2281fs|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.E2366fs|PDE4DIP_ENST00000369354.3_Frame_Shift_Del_p.E2281fs|PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.E2175fs	p.E2417fs			WXS	Illumina GAIIx	Phase_I	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	45	7287	-			2281					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Frame_Shift_Del	DEL	ENST00000369354.3	37	c.7249delG	CCDS30824.1																																																																																				0.488	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		8	320						8	320	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152329462	152329463	+	Frame_Shift_Ins	INS	-	-	AGCTG			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:152329462_152329463insAGCTG	ENST00000388718.5	-	3	871_872	c.799_800insCAGCT	c.(799-801)tgtfs	p.C267fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	267	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAACCTGAACAGCTAGACCCA	0.455																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(799-801)ttcfs		filaggrin family member 2																																				SO:0001589	frameshift_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152329462_152329463insAGCTG	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.799_800insCAGCT	1.37:g.152329462_152329463insAGCTG	ENSP00000373370:p.Cys267fs		Somatic				FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.F267fs	NM_001014342.2	NP_001014364.1	WXS	Illumina GAIIx	Phase_I	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	871_872	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		267			Ser-rich.		Q9H4U1	Frame_Shift_Ins	INS	ENST00000388718.5	37	c.799_800insCAGCT	CCDS30861.1																																																																																				0.455	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		38	123						38	123	---	---	---	---
CASQ1	844	broad.mit.edu	37	1	160168790	160168790	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:160168790delA	ENST00000368078.3	+	9	1127	c.931delA	c.(931-933)actfs	p.T311fs	CASQ1_ENST00000368079.3_Frame_Shift_Del_p.T305fs|CASQ1_ENST00000467691.1_Frame_Shift_Del_p.T32fs			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	311					endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCAAGATAACACTGAAAACCC	0.502																																						ENST00000368079.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21						c.(913-915)ctfs		calsequestrin 1 (fast-twitch, skeletal muscle)							158.0	145.0	149.0					1																	160168790		2203	4300	6503	SO:0001589	frameshift_variant	844					mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding	g.chr1:160168790delA	S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"""Protein disulfide isomerases"""	1512	protein-coding gene	gene with protein product	"""calsequestrin 1, fast-twitch, skeletal muscle"", ""calmitine"""	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.931delA	1.37:g.160168790delA	ENSP00000357057:p.Thr311fs		Somatic				CASQ1_ENST00000467691.1_Frame_Shift_Del_p.T32fs|CASQ1_ENST00000368078.3_Frame_Shift_Del_p.T311fs	p.T305fs	NM_001231.4	NP_001222.3	WXS	Illumina GAIIx	Phase_I	P31415	CASQ1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		9	1188	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		311					B1AKZ2|B2R863|Q8TBW7	Frame_Shift_Del	DEL	ENST00000368078.3	37	c.913delA	CCDS1198.2																																																																																				0.502	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1	NM_001231		7	416						7	416	---	---	---	---
ZBTB37	84614	broad.mit.edu	37	1	173839523	173839524	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:173839523_173839524insC	ENST00000367701.5	+	2	351_352	c.160_161insC	c.(160-162)tccfs	p.S54fs	ZBTB37_ENST00000367704.1_Frame_Shift_Ins_p.S54fs|ZBTB37_ENST00000367702.1_Frame_Shift_Ins_p.S54fs|ZBTB37_ENST00000432989.1_Frame_Shift_Ins_p.S54fs|ZBTB37_ENST00000427304.1_Frame_Shift_Ins_p.S54fs|GAS5_ENST00000364084.1_RNA			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	54	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						GGCTGCCAGCTCCCCCTATTTC	0.485																																						ENST00000367704.1																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						c.(160-162)cccfs		zinc finger and BTB domain containing 37																																				SO:0001589	frameshift_variant	84614				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:173839523_173839524insC	AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.165dupC	1.37:g.173839528_173839528dupC	ENSP00000356674:p.Ser54fs		Somatic				ZBTB37_ENST00000367701.4_Frame_Shift_Ins_p.P54fs|ZBTB37_ENST00000432989.1_Frame_Shift_Ins_p.P54fs|ZBTB37_ENST00000427304.1_Frame_Shift_Ins_p.P54fs|ZBTB37_ENST00000367702.1_Frame_Shift_Ins_p.P54fs	p.P54fs			WXS	Illumina GAIIx	Phase_I	Q5TC79	ZBT37_HUMAN			3	559_560	+			54			BTB.		Q5TC80|Q96M87|Q9BQ88	Frame_Shift_Ins	INS	ENST00000367701.5	37	c.160_161insC	CCDS44278.1																																																																																				0.485	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090729.2	NM_032522		7	1112						7	1112	---	---	---	---
SMG7	9887	broad.mit.edu	37	1	183514220	183514221	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:183514220_183514221delCA	ENST00000347615.2	+	16	2262_2263	c.2143_2144delCA	c.(2143-2145)cacfs	p.H715fs	SMG7_ENST00000367537.3_Frame_Shift_Del_p.H698fs|SMG7_ENST00000507469.1_Frame_Shift_Del_p.H669fs|SMG7_ENST00000456731.2_Frame_Shift_Del_p.H627fs|SMG7_ENST00000515829.2_Frame_Shift_Del_p.H669fs|SMG7_ENST00000508461.1_Frame_Shift_Del_p.H673fs	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	715	Gln/Pro-rich.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GAAACAGTCCCACATTCCTTAC	0.545																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2092-2094)cfs		SMG7 nonsense mediated mRNA decay factor																																				SO:0001589	frameshift_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183514220_183514221delCA	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2143_2144delCA	1.37:g.183514222_183514223delCA	ENSP00000340766:p.His715fs		Somatic				SMG7_ENST00000347615.2_Frame_Shift_Del_p.H715fs|SMG7_ENST00000508461.1_Frame_Shift_Del_p.H673fs|SMG7_ENST00000507469.1_Frame_Shift_Del_p.H669fs|SMG7_ENST00000515829.2_Frame_Shift_Del_p.H669fs|SMG7_ENST00000456731.2_Frame_Shift_Del_p.H627fs	p.H698fs			WXS	Illumina GAIIx	Phase_I	Q92540	SMG7_HUMAN			17	2287_2288	+			715			Gln/Pro-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Frame_Shift_Del	DEL	ENST00000347615.2	37	c.2092_2093delCA	CCDS1355.1																																																																																				0.545	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		45	633						45	633	---	---	---	---
NBAS	51594	broad.mit.edu	37	2	15615948	15615949	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:15615948_15615949insTC	ENST00000281513.5	-	14	1228_1229	c.1203_1204insGA	c.(1201-1206)gtgactfs	p.T402fs	NBAS_ENST00000441750.1_Frame_Shift_Ins_p.T402fs	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	402					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CGAGCTAAAGTCACTGCACTGT	0.391																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(1201-1206)gtctttfs		neuroblastoma amplified sequence																																				SO:0001589	frameshift_variant	51594							g.chr2:15615948_15615949insTC	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.1203_1204insGA	2.37:g.15615948_15615949insTC	ENSP00000281513:p.Thr402fs		Somatic				NBAS_ENST00000441750.1_Frame_Shift_Ins_p.F402fs	p.F402fs	NM_015909.3	NP_056993.2	WXS	Illumina GAIIx	Phase_I	A2RRP1	NBAS_HUMAN			14	1228_1229	-			402					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Frame_Shift_Ins	INS	ENST00000281513.5	37	c.1203_1204insGA	CCDS1685.1																																																																																				0.391	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		13	30						13	30	---	---	---	---
ABCG5	64240	broad.mit.edu	37	2	44055180	44055181	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:44055180_44055181insC	ENST00000260645.1	-	5	714_715	c.575_576insG	c.(574-576)ggcfs	p.G192fs	ABCG5_ENST00000543989.1_5'UTR|ABCG5_ENST00000405322.1_Frame_Shift_Ins_p.G111fs	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	192	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CCGTGGAAATGCCCCCCAAGCT	0.589																																						ENST00000405322.1																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(331-333)gatfs		ATP-binding cassette, sub-family G (WHITE), member 5																																				SO:0001589	frameshift_variant	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44055180_44055181insC	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.576dupG	2.37:g.44055186_44055186dupC	ENSP00000260645:p.Gly192fs		Somatic				ABCG5_ENST00000543989.1_5'UTR|ABCG5_ENST00000260645.1_Frame_Shift_Ins_p.D192fs	p.D111fs			WXS	Illumina GAIIx	Phase_I	Q9H222	ABCG5_HUMAN			4	1228_1229	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	192			ABC transporter.		Q2T9G2|Q96QZ2|Q96QZ3	Frame_Shift_Ins	INS	ENST00000260645.1	37	c.332_333insG	CCDS1814.1																																																																																				0.589	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436		10	325						10	325	---	---	---	---
FSHR	2492	broad.mit.edu	37	2	49191001	49191002	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:49191001_49191002delGA	ENST00000406846.2	-	10	1077_1078	c.958_959delTC	c.(958-960)tccfs	p.S321fs	FSHR_ENST00000346173.3_Frame_Shift_Del_p.S259fs|FSHR_ENST00000541117.1_Frame_Shift_Del_p.S57fs|FSHR_ENST00000304421.4_Frame_Shift_Del_p.S295fs	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	321					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	GCTGTAGCTGGACTCATTGTCT	0.441									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(958-960)cfs		follicle stimulating hormone receptor	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)																																			SO:0001589	frameshift_variant	2492	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49191001_49191002delGA		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.958_959delTC	2.37:g.49191001_49191002delGA	ENSP00000384708:p.Ser321fs		Somatic				FSHR_ENST00000346173.3_Frame_Shift_Del_p.S259fs|FSHR_ENST00000541117.1_Frame_Shift_Del_p.S57fs|FSHR_ENST00000304421.4_Frame_Shift_Del_p.S295fs	p.S321fs	NM_000145.3	NP_000136.2	WXS	Illumina GAIIx	Phase_I	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1077_1078	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	321					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Frame_Shift_Del	DEL	ENST00000406846.2	37	c.958_959delTC	CCDS1843.1																																																																																				0.441	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			54	248						54	248	---	---	---	---
WBP1	23559	broad.mit.edu	37	2	74685769	74685770	+	Frame_Shift_Ins	INS	-	-	G	rs566524770		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:74685769_74685770insG	ENST00000233615.2	+	1	314_315	c.40_41insG	c.(40-42)tggfs	p.W14fs	WBP1_ENST00000409737.1_Frame_Shift_Ins_p.W14fs|WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000393972.3_Frame_Shift_Ins_p.W14fs	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1	14							WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CGAGGAGGCCTGGGGGGCACTT	0.634																																						ENST00000393972.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						c.(40-42)gggfs		WW domain binding protein 1																																				SO:0001589	frameshift_variant	23559						WW domain binding	g.chr2:74685769_74685770insG	U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.46dupG	2.37:g.74685775_74685775dupG	ENSP00000233615:p.Trp14fs		Somatic				WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000409737.1_Frame_Shift_Ins_p.G14fs|WBP1_ENST00000233615.2_Frame_Shift_Ins_p.G14fs	p.G14fs			WXS	Illumina GAIIx	Phase_I	Q96G27	WBP1_HUMAN			1	243_244	+			14					B2RE02|O95637	Frame_Shift_Ins	INS	ENST00000233615.2	37	c.40_41insG	CCDS1943.1																																																																																				0.634	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252221.2	NM_012477		8	207						8	207	---	---	---	---
SCTR	6344	broad.mit.edu	37	2	120194795	120194795	+	IGR	DEL	A	A	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:120194795delA	ENST00000019103.5	-	0	1865				TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000306406.4_Frame_Shift_Del_p.K118fs|TMEM37_ENST00000409826.1_Frame_Shift_Del_p.K130fs	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor						digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	GTGCGAGGACAAACACTCACA	0.617																																						ENST00000306406.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(352-354)aafs		transmembrane protein 37							143.0	135.0	138.0					2																	120194795		2203	4300	6503	SO:0001628	intergenic_variant	140738					integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr2:120194795delA		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407		2.37:g.120194795delA			Somatic				TMEM37_ENST00000409826.1_Frame_Shift_Del_p.K130fs|TMEM37_ENST00000465296.1_3'UTR	p.K118fs	NM_183240.2	NP_899063.2	WXS	Illumina GAIIx	Phase_I	Q8WXS4	CCGL_HUMAN			2	387	+			118					Q12961|Q13213|Q53T00	Frame_Shift_Del	DEL	ENST00000019103.5	37	c.352delA	CCDS2127.1																																																																																				0.617	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			8	174						8	174	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168102336	168102337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr2:168102336_168102337insG	ENST00000409195.1	+	9	4523_4524	c.4434_4435insG	c.(4435-4437)cagfs	p.Q1479fs	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.Q1479fs|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.Q1257fs	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1304					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						AGACAGTCACTCAGGAAGATGT	0.371																																						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.(4432-4437)acaggafs		xin actin-binding repeat containing 2																																				SO:0001589	frameshift_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168102336_168102337insG	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	Exception_encountered	2.37:g.168102336_168102337insG	ENSP00000386840:p.Gln1479fs		Somatic				XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.G1257fs|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.G1479fs|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron	p.G1479fs	NM_152381.5	NP_689594.4	WXS	Illumina GAIIx	Phase_I	A4UGR9	XIRP2_HUMAN			9	4523_4524	+			1304					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.4434_4435insG	CCDS42769.1																																																																																				0.371	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		11	254						11	254	---	---	---	---
BHLHE40	8553	broad.mit.edu	37	3	5025346	5025347	+	Frame_Shift_Ins	INS	-	-	C	rs372311096		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:5025346_5025347insC	ENST00000256495.3	+	5	1811_1812	c.1208_1209insC	c.(1207-1212)atccccfs	p.IP403fs		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	403					circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|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)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						CTGAAGCCAATCCCCCCTTTAA	0.485																																						ENST00000256495.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						c.(1207-1209)accfs		basic helix-loop-helix family, member e40																																				SO:0001589	frameshift_variant	8553					Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr3:5025346_5025347insC	AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"""Basic helix-loop-helix proteins"""	1046	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 1"", "" differentiated embryo chondrocyte expressed gene 1"""	604256	"""basic helix-loop-helix domain containing, class B, 2"""	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.1214dupC	3.37:g.5025352_5025352dupC	ENSP00000256495:p.Ile403fs		Somatic					p.T403fs	NM_003670.2	NP_003661.1	WXS	Illumina GAIIx	Phase_I	O14503	BHE40_HUMAN			5	1811_1812	+			403					Q96TD3	Frame_Shift_Ins	INS	ENST00000256495.3	37	c.1208_1209insC	CCDS2565.1																																																																																				0.485	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239244.2	NM_003670		7	917						7	917	---	---	---	---
GALNT15	117248	broad.mit.edu	37	3	16254154	16254155	+	Frame_Shift_Ins	INS	-	-	C	rs375198104		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:16254154_16254155insC	ENST00000339732.5	+	6	1779_1780	c.1276_1277insC	c.(1276-1278)tccfs	p.S426fs	GALNT15_ENST00000437509.1_Frame_Shift_Ins_p.S426fs	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	426					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)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.S426F(1)									GGATTCCCATTCCCCCCTCGAC	0.55																																						ENST00000339732.5																			1	Substitution - Missense(1)	p.S426F(1)	NS(1)								c.(1276-1278)cccfs		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																																				SO:0001589	frameshift_variant	117248							g.chr3:16254154_16254155insC	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1282dupC	3.37:g.16254160_16254160dupC	ENSP00000344260:p.Ser426fs		Somatic				GALNT15_ENST00000437509.1_Frame_Shift_Ins_p.P426fs	p.P426fs	NM_054110.4	NP_473451.3	WXS	Illumina GAIIx	Phase_I					6	1779_1780	+								A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Frame_Shift_Ins	INS	ENST00000339732.5	37	c.1276_1277insC	CCDS33711.1																																																																																				0.550	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		7	830						7	830	---	---	---	---
QARS	5859	broad.mit.edu	37	3	49137078	49137078	+	Frame_Shift_Del	DEL	C	C	-	rs549522450		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:49137078delC	ENST00000306125.6	-	16	1728	c.1391delG	c.(1390-1392)cgcfs	p.R464fs	QARS_ENST00000470225.1_5'Flank|QARS_ENST00000414533.1_Frame_Shift_Del_p.R453fs			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	464					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GTAGGAAGAGCGTCTGGGGTG	0.577																																						ENST00000306125.6																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(1390-1392)ccfs		glutaminyl-tRNA synthetase	L-Glutamine(DB00130)						63.0	65.0	64.0					3																	49137078		2203	4300	6503	SO:0001589	frameshift_variant	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49137078delC	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1391delG	3.37:g.49137078delC	ENSP00000307567:p.Arg464fs		Somatic				QARS_ENST00000414533.1_Frame_Shift_Del_p.R453fs	p.R464fs			WXS	Illumina GAIIx	Phase_I	P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	16	1728	-			464					B4DWJ2	Frame_Shift_Del	DEL	ENST00000306125.6	37	c.1391delG	CCDS2788.1																																																																																				0.577	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051		8	98						8	98	---	---	---	---
MINA	84864	broad.mit.edu	37	3	97668725	97668726	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:97668725_97668726insG	ENST00000333396.7	-	7	1604_1605	c.1022_1023insC	c.(1021-1023)cctfs	p.P341fs	MINA_ENST00000394198.2_Frame_Shift_Ins_p.P341fs|MINA_ENST00000360258.4_Frame_Shift_Ins_p.P340fs	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3			MYC induced nuclear antigen									p.P340R(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						CCGCAGAGTAAGGGGGGAGTCT	0.51																																						ENST00000333396.6																			1	Substitution - Missense(1)	p.P340R(1)	ovary(1)	breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						c.(1021-1023)ctafs		MYC induced nuclear antigen																																				SO:0001589	frameshift_variant	84864				ribosome biogenesis	cytoplasm|nucleolus		g.chr3:97668725_97668726insG	AB083189	CCDS2929.1, CCDS43114.1	3q22.1	2005-07-22			ENSG00000170854	ENSG00000170854			19441	protein-coding gene	gene with protein product		612049				12091391	Standard	NM_001042533		Approved	MINA53, FLJ14393, mdig	uc003dsb.1	Q8IUF8	OTTHUMG00000160107	ENST00000333396.7:c.1023dupC	3.37:g.97668731_97668731dupG	ENSP00000328251:p.Pro341fs		Somatic				MINA_ENST00000360258.4_Frame_Shift_Ins_p.L340fs|MINA_ENST00000394198.2_Frame_Shift_Ins_p.L341fs	p.L341fs	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	WXS	Illumina GAIIx	Phase_I	Q8IUF8	MINA_HUMAN			7	1604_1605	-			341						Frame_Shift_Ins	INS	ENST00000333396.7	37	c.1022_1023insC	CCDS43114.1																																																																																				0.510	MINA-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359244.3	NM_032778		7	773						7	773	---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113376413	113376417	+	Frame_Shift_Del	DEL	TTGAG	TTGAG	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:113376413_113376417delTTGAG	ENST00000478658.1	-	5	4129_4133	c.4112_4116delCTCAA	c.(4111-4116)actcaafs	p.TQ1371fs	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Frame_Shift_Del_p.TQ1371fs			Q68DE3	K2018_HUMAN	KIAA2018	1371						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGACCATCATTTGAGTTTGGTCAGA	0.473																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(4111-4116)afs		KIAA2018																																				SO:0001589	frameshift_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113376413_113376417delTTGAG	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4112_4116delCTCAA	3.37:g.113376413_113376417delTTGAG	ENSP00000420721:p.Thr1371fs		Somatic				KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.TQ1371fs	p.TQ1371fs	NM_001009899.2	NP_001009899.2	WXS	Illumina GAIIx	Phase_I	Q68DE3	K2018_HUMAN			7	4522_4526	-			1371					Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Del	DEL	ENST00000478658.1	37	c.4112_4116delCTCAA	CCDS43133.1																																																																																				0.473	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		27	239						27	239	---	---	---	---
HGD	3081	broad.mit.edu	37	3	120357337	120357338	+	Frame_Shift_Ins	INS	-	-	C	rs34214309		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:120357337_120357338insC	ENST00000283871.5	-	12	1429_1430	c.970_971insG	c.(970-972)gttfs	p.V324fs		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	324					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CTTATCAGCAACCCCCCATCGA	0.48																																						ENST00000283871.5																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25						c.(970-972)tgcfs		homogentisate 1,2-dioxygenase																																				SO:0001589	frameshift_variant	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120357337_120357338insC		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.971dupG	3.37:g.120357343_120357343dupC	ENSP00000283871:p.Val324fs		Somatic					p.C324fs	NM_000187.3	NP_000178.2	WXS	Illumina GAIIx	Phase_I	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	12	1429_1430	-			324					A8K417|B2R8Z0	Frame_Shift_Ins	INS	ENST00000283871.5	37	c.970_971insG	CCDS3000.1																																																																																				0.480	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1			7	734						7	734	---	---	---	---
PXYLP1	92370	broad.mit.edu	37	3	140997216	140997217	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:140997216_140997217insT	ENST00000286353.4	+	3	249_250	c.112_113insT	c.(112-114)ggafs	p.G38fs	ACPL2_ENST00000502783.1_5'UTR|ACPL2_ENST00000504264.1_Frame_Shift_Ins_p.G21fs|ACPL2_ENST00000508812.1_Frame_Shift_Ins_p.G29fs|ACPL2_ENST00000393010.2_Frame_Shift_Ins_p.G38fs|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000393007.1_Frame_Shift_Ins_p.G22fs	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		38						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						TCCTAAGAATGGAATGAGTAGC	0.564																																						ENST00000508812.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						c.(85-87)aatfs		acid phosphatase-like 2																																				SO:0001589	frameshift_variant	92370					extracellular region	acid phosphatase activity	g.chr3:140997216_140997217insT																												Exception_encountered	3.37:g.140997216_140997217insT	ENSP00000286353:p.Gly38fs		Somatic				ACPL2_ENST00000286353.4_Frame_Shift_Ins_p.N38fs|ACPL2_ENST00000393010.2_Frame_Shift_Ins_p.N38fs|ACPL2_ENST00000504264.1_Frame_Shift_Ins_p.N21fs|ACPL2_ENST00000393007.1_Frame_Shift_Ins_p.N22fs|ACPL2_ENST00000502783.1_5'UTR|RP11-438D8.2_ENST00000507698.1_RNA	p.N29fs			WXS	Illumina GAIIx	Phase_I	Q8TE99	ACPL2_HUMAN			2	1992_1993	+			38					D3DNF5|Q49AJ2|W0TR04	Frame_Shift_Ins	INS	ENST00000286353.4	37	c.85_86insT	CCDS3116.1																																																																																				0.564	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359533.2			9	224						9	224	---	---	---	---
TRIM59	286827	broad.mit.edu	37	3	160156831	160156832	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:160156831_160156832insT	ENST00000309784.4	-	3	325_326	c.140_141insA	c.(139-141)tggfs	p.W47fs	TRIM59_ENST00000543469.1_Frame_Shift_Ins_p.W47fs|RP11-432B6.3_ENST00000483754.1_Frame_Shift_Ins_p.W47fs	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	47					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTAAAGGTCTCCATATATAAAA	0.361																																						ENST00000543469.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15						c.(139-141)tagfs		tripartite motif containing 59																																				SO:0001589	frameshift_variant	286827					integral to membrane|intracellular	zinc ion binding	g.chr3:160156831_160156832insT	AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	30834	protein-coding gene	gene with protein product			"""tripartite motif-containing 57"", ""tripartite motif-containing 59"""	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.140_141insA	3.37:g.160156831_160156832insT	ENSP00000311219:p.Trp47fs		Somatic				TRIM59_ENST00000309784.4_Frame_Shift_Ins_p.*47fs|RP11-432B6.3_ENST00000483754.1_Frame_Shift_Ins_p.*47fs	p.*47fs			WXS	Illumina GAIIx	Phase_I	Q8IWR1	TRI59_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		2	354_355	-			47					A8K5G9|D3DNL9	Frame_Shift_Ins	INS	ENST00000309784.4	37	c.140_141insA	CCDS3190.1																																																																																				0.361	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352963.1	NM_173084		23	329						23	329	---	---	---	---
SDHAP1	255812	broad.mit.edu	37	3	195713385	195713386	+	RNA	INS	-	-	T	rs199843390		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:195713385_195713386insT	ENST00000427841.1	-	0	176					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AAAGCATGAACTTACGGAATCT	0.401																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			255812							g.chr3:195713385_195713386insT	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195713387_195713387dupT			Somatic						NR_003264.2		WXS	Illumina GAIIx	Phase_I					0	176	-									RNA	INS	ENST00000427841.1	37																																																																																						0.401	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			21	6						21	6	---	---	---	---
UBXN7	26043	broad.mit.edu	37	3	196094916	196094917	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:196094916_196094917insG	ENST00000296328.4	-	8	890_891	c.816_817insC	c.(814-819)cccaaafs	p.K273fs	UBXN7_ENST00000428095.1_Frame_Shift_Ins_p.K111fs|UBXN7_ENST00000535858.1_Frame_Shift_Ins_p.K125fs	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_ENST00000428095.1_Frame_Shift_Ins_p.PK110fs|UBXN7_ENST00000535858.1_Frame_Shift_Ins_p.PK124fs	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		8	433						8	433	---	---	---	---
TAPT1-AS1	202020	broad.mit.edu	37	4	16257860	16257860	+	RNA	DEL	T	T	-	rs397691726|rs60066752	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:16257860delT	ENST00000570786.1	+	0	234				TAPT1-AS1_ENST00000573950.1_RNA|TAPT1-AS1_ENST00000573308.1_RNA	NR_027696.1				TAPT1 antisense RNA 1 (head to head)																		AGGGTTTGTCTTTTTTTTTTT	0.383													|||unknown(HR)	1863	0.372005	0.3366	0.4049	5008	,	,		17785	0.3661		0.4056	False		,,,				2504	0.3681					ENST00000570786.1																			0																																																			202020							g.chr4:16257860delT			4p15.32	2012-11-06	2012-11-06		ENSG00000263327	ENSG00000263327		"""Long non-coding RNAs"""	26832	non-coding RNA	RNA, long non-coding							Standard	NR_027696		Approved	FLJ39653			OTTHUMG00000160321		4.37:g.16257860delT			Somatic				TAPT1-AS1_ENST00000573950.1_RNA|TAPT1-AS1_ENST00000573308.1_RNA		NR_027696.1		WXS	Illumina GAIIx	Phase_I					0	234	+									RNA	DEL	ENST00000570786.1	37																																																																																						0.383	TAPT1-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000439459.1	NR_027696		3	5						3	5	---	---	---	---
LIMCH1	22998	broad.mit.edu	37	4	41648518	41648519	+	Frame_Shift_Ins	INS	-	-	GAGT			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:41648518_41648519insGAGT	ENST00000313860.7	+	12	1327_1328	c.1273_1274insGAGT	c.(1273-1275)gagfs	p.E425fs	LIMCH1_ENST00000381753.4_Frame_Shift_Ins_p.E259fs|LIMCH1_ENST00000512820.1_Frame_Shift_Ins_p.E413fs|LIMCH1_ENST00000509277.1_Frame_Shift_Ins_p.E259fs|LIMCH1_ENST00000511496.1_Frame_Shift_Ins_p.E266fs|LIMCH1_ENST00000503057.1_Frame_Shift_Ins_p.E810fs|LIMCH1_ENST00000508501.1_Frame_Shift_Ins_p.E425fs|LIMCH1_ENST00000512946.1_Frame_Shift_Ins_p.E425fs|LIMCH1_ENST00000396595.3_Frame_Shift_Ins_p.E271fs|LIMCH1_ENST00000514096.1_Frame_Shift_Ins_p.E266fs|LIMCH1_ENST00000512632.1_Frame_Shift_Ins_p.E425fs|LIMCH1_ENST00000513024.1_Frame_Shift_Ins_p.E254fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	425					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GAGAGAGAGAGAGCTGCATGAA	0.465																																						ENST00000313860.7																			0				central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(1273-1275)gctfs		LIM and calponin homology domains 1																																				SO:0001589	frameshift_variant	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41648518_41648519insGAGT	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	Exception_encountered	4.37:g.41648518_41648519insGAGT	ENSP00000316891:p.Glu425fs		Somatic				LIMCH1_ENST00000381753.4_Frame_Shift_Ins_p.A259fs|LIMCH1_ENST00000503057.1_Frame_Shift_Ins_p.A810fs|LIMCH1_ENST00000512820.1_Frame_Shift_Ins_p.A413fs|LIMCH1_ENST00000513024.1_Frame_Shift_Ins_p.A254fs|LIMCH1_ENST00000511496.1_Frame_Shift_Ins_p.A266fs|LIMCH1_ENST00000509277.1_Frame_Shift_Ins_p.A259fs|LIMCH1_ENST00000512632.1_Frame_Shift_Ins_p.A425fs|LIMCH1_ENST00000514096.1_Frame_Shift_Ins_p.A266fs|LIMCH1_ENST00000508501.1_Frame_Shift_Ins_p.A425fs|LIMCH1_ENST00000512946.1_Frame_Shift_Ins_p.A425fs|LIMCH1_ENST00000396595.3_Frame_Shift_Ins_p.A271fs	p.A425fs	NM_014988.2	NP_055803.2	WXS	Illumina GAIIx	Phase_I	Q9UPQ0	LIMC1_HUMAN			12	1327_1328	+			425					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Frame_Shift_Ins	INS	ENST00000313860.7	37	c.1273_1274insGAGT	CCDS33977.1																																																																																				0.465	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		39	549						39	549	---	---	---	---
ZNF827	152485	broad.mit.edu	37	4	146686192	146686193	+	Frame_Shift_Ins	INS	-	-	G	rs151005596		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:146686192_146686193insG	ENST00000508784.1	-	13	3404_3405	c.3177_3178insC	c.(3175-3180)cccgaafs	p.E1060fs	ZNF827_ENST00000379448.4_Frame_Shift_Ins_p.E1060fs|ZNF827_ENST00000513320.1_Frame_Shift_Ins_p.E710fs			Q17R98	ZN827_HUMAN	zinc finger protein 827	1060					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P1059P(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					AGCAGCTGTTCGGGGGTCTTCA	0.475																																						ENST00000508784.1																			2	Substitution - coding silent(2)	p.P1059P(2)	lung(2)	NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(3175-3180)ccaacafs		zinc finger protein 827																																				SO:0001589	frameshift_variant	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146686192_146686193insG	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.3178dupC	4.37:g.146686197_146686197dupG	ENSP00000421863:p.Glu1060fs		Somatic				ZNF827_ENST00000379448.4_Frame_Shift_Ins_p.T1060fs|ZNF827_ENST00000513320.1_Frame_Shift_Ins_p.T710fs	p.T1060fs			WXS	Illumina GAIIx	Phase_I	Q17R98	ZN827_HUMAN			13	3404_3405	-	all_hematologic(180;0.151)		1060					B7ZL52|Q7Z4S7|Q8N279	Frame_Shift_Ins	INS	ENST00000508784.1	37	c.3177_3178insC																																																																																					0.475	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		15	862						15	862	---	---	---	---
PPID	5481	broad.mit.edu	37	4	159644421	159644422	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:159644421_159644422insG	ENST00000307720.3	-	1	126_127	c.19_20insC	c.(19-21)caafs	p.Q7fs		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	7					apoptotic process (GO:0006915)|cellular response to UV-A (GO:0071492)|chaperone-mediated protein folding (GO:0061077)|lipid particle organization (GO:0034389)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|protein transport (GO:0015031)|viral release from host cell (GO:0019076)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|estrogen receptor binding (GO:0030331)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|transcription factor binding (GO:0008134)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		GGGCTTGGCTTGGGGGGACGGG	0.609																																						ENST00000307720.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(19-21)agcfs		peptidylprolyl isomerase D																																				SO:0001589	frameshift_variant	5481				protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	g.chr4:159644421_159644422insG		CCDS3801.1	4q31.3	2013-01-10	2008-10-24		ENSG00000171497	ENSG00000171497		"""Tetratricopeptide (TTC) repeat domain containing"""	9257	protein-coding gene	gene with protein product	"""cyclophilin 40"""	601753	"""peptidylprolyl isomerase D (cyclophilin D)"""			8509368	Standard	NM_005038		Approved	CYP-40	uc003iqc.3	Q08752	OTTHUMG00000161927	ENST00000307720.3:c.20dupC	4.37:g.159644427_159644427dupG	ENSP00000303754:p.Gln7fs		Somatic					p.S7fs	NM_005038.2	NP_005029.1	WXS	Illumina GAIIx	Phase_I	Q08752	PPID_HUMAN		COAD - Colon adenocarcinoma(41;0.0159)	1	126_127	-	all_hematologic(180;0.24)		7					B2R9V2	Frame_Shift_Ins	INS	ENST00000307720.3	37	c.19_20insC	CCDS3801.1																																																																																				0.609	PPID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366436.1	NM_005038		7	255						7	255	---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177046335	177046336	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:177046335_177046336insA	ENST00000280190.4	+	6	847_848	c.691_692insA	c.(691-693)tggfs	p.W231fs	WDR17_ENST00000507824.2_Frame_Shift_Ins_p.W214fs|WDR17_ENST00000393643.2_Frame_Shift_Ins_p.W207fs|WDR17_ENST00000508596.1_Frame_Shift_Ins_p.W207fs			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	231										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GGCCTTGGAATGGGACCCACTA	0.361																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(619-621)ggafs		WD repeat domain 17																																				SO:0001589	frameshift_variant	116966							g.chr4:177046335_177046336insA	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	Exception_encountered	4.37:g.177046335_177046336insA	ENSP00000280190:p.Trp231fs		Somatic				WDR17_ENST00000508596.1_Frame_Shift_Ins_p.G207fs|WDR17_ENST00000280190.4_Frame_Shift_Ins_p.G231fs|WDR17_ENST00000507824.2_Frame_Shift_Ins_p.G214fs	p.G207fs	NM_170710.4	NP_733828.2	WXS	Illumina GAIIx	Phase_I	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	5	871_872	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	231					E7EQX0|Q0QD35	Frame_Shift_Ins	INS	ENST00000280190.4	37	c.619_620insA	CCDS3825.1																																																																																				0.361	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			159	257						159	257	---	---	---	---
PAPD7	11044	broad.mit.edu	37	5	6755013	6755014	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:6755013_6755014delAC	ENST00000230859.6	+	13	1713_1714	c.1584_1585delAC	c.(1582-1587)aaacacfs	p.H529fs		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	759					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGAGGAAAAAACACACACACAC	0.653																																					NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1582-1587)aaacfs		PAP associated domain containing 7																																				SO:0001589	frameshift_variant	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6755013_6755014delAC	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1584_1585delAC	5.37:g.6755023_6755024delAC	ENSP00000230859:p.His529fs		Somatic					p.KH528fs	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	WXS	Illumina GAIIx	Phase_I	Q5XG87	PAPD7_HUMAN			13	1713_1714	+			528					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Frame_Shift_Del	DEL	ENST00000230859.6	37	c.1584_1585delAC	CCDS3871.1																																																																																				0.653	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		8	220						8	220	---	---	---	---
OCLN	100506658	broad.mit.edu	37	5	68809915	68809916	+	Frame_Shift_Ins	INS	-	-	C	rs373344533		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:68809915_68809916insC	ENST00000355237.2	+	4	1306_1307	c.870_871insC	c.(871-873)cccfs	p.P291fs	OCLN_ENST00000396442.2_Frame_Shift_Ins_p.P291fs|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000380766.2_Intron|OCLN_ENST00000538151.1_Frame_Shift_Ins_p.P40fs	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	291					apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		ATGATGAGCAGCCCCCCAATGT	0.347																																						ENST00000355237.2																			0				endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6						c.(868-873)caccccfs		occludin																																				SO:0001589	frameshift_variant	100506658				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity	g.chr5:68809915_68809916insC	U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"""tight junction protein occludin TM4 minus"", ""phosphatase 1, regulatory subunit 115"""	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.876dupC	5.37:g.68809921_68809921dupC	ENSP00000347379:p.Pro291fs		Somatic				OCLN_ENST00000542132.1_Intron|OCLN_ENST00000538151.1_Frame_Shift_Ins_p.HP39fs|OCLN_ENST00000380766.2_Intron|OCLN_ENST00000396442.2_Frame_Shift_Ins_p.HP290fs	p.HP290fs	NM_002538.3	NP_002529.1	WXS	Illumina GAIIx	Phase_I	Q16625	OCLN_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	4	1306_1307	+		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	290					B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Frame_Shift_Ins	INS	ENST00000355237.2	37	c.870_871insC	CCDS4006.1																																																																																				0.347	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216794.1	NM_002538		7	409						7	409	---	---	---	---
MSH3	4437	broad.mit.edu	37	5	80074560	80074561	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:80074560_80074561insA	ENST00000265081.6	+	17	2420_2421	c.2340_2341insA	c.(2341-2343)cacfs	p.H781fs		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	781					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TGAGCCGCTTTCACTCTCCTTT	0.401								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(2338-2343)ttactcfs	Mismatch excision repair (MMR)	mutS homolog 3																																				SO:0001589	frameshift_variant	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:80074560_80074561insA	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	Exception_encountered	5.37:g.80074560_80074561insA	ENSP00000265081:p.His781fs		Somatic					p.L781fs	NM_002439.4	NP_002430.3	WXS	Illumina GAIIx	Phase_I	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	17	2420_2421	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	781					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Frame_Shift_Ins	INS	ENST00000265081.6	37	c.2340_2341insA	CCDS34195.1																																																																																				0.401	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		11	129						11	129	---	---	---	---
SEC24A	10802	broad.mit.edu	37	5	134053794	134053795	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:134053794_134053795insC	ENST00000398844.2	+	20	3189_3190	c.2901_2902insC	c.(2902-2904)cccfs	p.P968fs	RNU6-757P_ENST00000410334.1_RNA	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	968					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCATACCTCAGCCCCCCATTCT	0.426																																						ENST00000398844.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(2899-2904)caccccfs		SEC24 family member A																																				SO:0001589	frameshift_variant	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:134053794_134053795insC	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.2907dupC	5.37:g.134053800_134053800dupC	ENSP00000381823:p.Pro968fs		Somatic					p.HP967fs	NM_021982.2	NP_068817.1	WXS	Illumina GAIIx	Phase_I	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		20	3189_3190	+			967					A8MVW3|Q8WUV2|Q96GP7	Frame_Shift_Ins	INS	ENST00000398844.2	37	c.2901_2902insC	CCDS43363.1																																																																																				0.426	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			19	572						19	572	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38783331	38783332	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:38783331_38783332insG	ENST00000359357.3	+	24	3024_3025	c.2770_2771insG	c.(2770-2772)tggfs	p.W924fs	DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.W1141fs|DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.W924fs			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	924					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGTGGCTCACTGGGGGCAACAG	0.49																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(2770-2772)gggfs		dynein, axonemal, heavy chain 8																																				SO:0001589	frameshift_variant	1769							g.chr6:38783331_38783332insG	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2775dupG	6.37:g.38783336_38783336dupG	ENSP00000352312:p.Trp924fs		Somatic				DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.G924fs|DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.G1141fs	p.G924fs			WXS	Illumina GAIIx	Phase_I					24	3024_3025	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Frame_Shift_Ins	INS	ENST00000359357.3	37	c.2770_2771insG																																																																																					0.490	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		10	916						10	916	---	---	---	---
TTBK1	84630	broad.mit.edu	37	6	43227329	43227330	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:43227329_43227330insC	ENST00000259750.4	+	12	1392_1393	c.1309_1310insC	c.(1309-1311)gccfs	p.A437fs	TTBK1_ENST00000304139.5_Frame_Shift_Ins_p.A386fs	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	437					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCCAGTGCGTGCCCCCCCAGAC	0.673																																						ENST00000259750.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1309-1311)cccfs		tau tubulin kinase 1																																				SO:0001589	frameshift_variant	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43227329_43227330insC	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.1316dupC	6.37:g.43227336_43227336dupC	ENSP00000259750:p.Ala437fs		Somatic				TTBK1_ENST00000304139.5_Frame_Shift_Ins_p.P386fs	p.P437fs	NM_032538.1	NP_115927.1	WXS	Illumina GAIIx	Phase_I	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		12	1392_1393	+			437					A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Frame_Shift_Ins	INS	ENST00000259750.4	37	c.1309_1310insC	CCDS34455.1																																																																																				0.673	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			2	4						2	4	---	---	---	---
EIF3B	8662	broad.mit.edu	37	7	2405969	2405970	+	Frame_Shift_Ins	INS	-	-	C	rs142377401		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:2405969_2405970insC	ENST00000360876.4	+	7	1231_1232	c.1175_1176insC	c.(1174-1179)agccccfs	p.SP392fs	EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.SP392fs	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GTGACCTTTAGCCCCCTGATGG	0.545																																						ENST00000360876.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(1174-1176)accfs		eukaryotic translation initiation factor 3, subunit B																																				SO:0001589	frameshift_variant	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2405969_2405970insC	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1180dupC	7.37:g.2405974_2405974dupC	ENSP00000354125:p.Ser392fs		Somatic				EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.T392fs	p.T392fs	NM_001037283.1	NP_001032360.1	WXS	Illumina GAIIx	Phase_I	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	7	1231_1232	+		Ovarian(82;0.0253)	392			Sufficient for interaction with EIF3E.			Frame_Shift_Ins	INS	ENST00000360876.4	37	c.1175_1176insC	CCDS5332.1																																																																																				0.545	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			8	1446						8	1446	---	---	---	---
SCIN	85477	broad.mit.edu	37	7	12662466	12662470	+	Frame_Shift_Del	DEL	ATGAT	ATGAT	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:12662466_12662470delATGAT	ENST00000297029.5	+	5	808_812	c.707_711delATGAT	c.(706-711)gatgatfs	p.DD236fs	SCIN_ENST00000519209.1_5'UTR|SCIN_ENST00000445618.2_5'UTR|SCIN_ENST00000473722.1_3'UTR	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	236	Actin-severing. {ECO:0000255}.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GGAGGTGATGATGATGACATTATAG	0.4																																						ENST00000297029.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17						c.(706-711)gfs		scinderin																																				SO:0001589	frameshift_variant	85477				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding	g.chr7:12662466_12662470delATGAT	AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.707_711delATGAT	7.37:g.12662466_12662470delATGAT	ENSP00000297029:p.Asp236fs		Somatic				SCIN_ENST00000473722.1_3'UTR|SCIN_ENST00000445618.2_5'UTR|SCIN_ENST00000519209.1_5'UTR	p.DD236fs	NM_001112706.2	NP_001106177.1	WXS	Illumina GAIIx	Phase_I	Q9Y6U3	ADSV_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	5	808_812	+			236			Actin-severing (Potential).		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Frame_Shift_Del	DEL	ENST00000297029.5	37	c.707_711delATGAT	CCDS47545.1																																																																																				0.400	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326041.1	NM_033128		67	360						67	360	---	---	---	---
OSBPL3	26031	broad.mit.edu	37	7	24881942	24881943	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:24881942_24881943insA	ENST00000313367.2	-	13	1807_1808	c.1356_1357insT	c.(1354-1359)tttgatfs	p.D453fs	OSBPL3_ENST00000352860.1_Frame_Shift_Ins_p.D422fs|OSBPL3_ENST00000431825.2_Frame_Shift_Ins_p.D386fs|OSBPL3_ENST00000396431.1_Frame_Shift_Ins_p.D422fs|OSBPL3_ENST00000409069.1_Frame_Shift_Ins_p.D386fs|OSBPL3_ENST00000353930.1_Frame_Shift_Ins_p.D417fs|OSBPL3_ENST00000396429.1_Frame_Shift_Ins_p.D417fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	453					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TCCTGAGCATCAAAAAACTCAG	0.401																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(1354-1359)ttatgcfs		oxysterol binding protein-like 3																																				SO:0001589	frameshift_variant	26031				lipid transport		lipid binding|protein binding	g.chr7:24881942_24881943insA	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1357dupT	7.37:g.24881948_24881948dupA	ENSP00000315410:p.Asp453fs		Somatic				OSBPL3_ENST00000431825.2_Frame_Shift_Ins_p.LC385fs|OSBPL3_ENST00000353930.1_Frame_Shift_Ins_p.LC416fs|OSBPL3_ENST00000409069.1_Frame_Shift_Ins_p.LC385fs|OSBPL3_ENST00000396431.1_Frame_Shift_Ins_p.LC421fs|OSBPL3_ENST00000352860.1_Frame_Shift_Ins_p.LC421fs|OSBPL3_ENST00000396429.1_Frame_Shift_Ins_p.LC416fs	p.LC452fs	NM_015550.2	NP_056365.1	WXS	Illumina GAIIx	Phase_I	Q9H4L5	OSBL3_HUMAN			13	1807_1808	-			452					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Frame_Shift_Ins	INS	ENST00000313367.2	37	c.1356_1357insT	CCDS5390.1																																																																																				0.401	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			7	919						7	919	---	---	---	---
EGFR	1956	broad.mit.edu	37	7	55221747	55221748	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:55221747_55221748insC	ENST00000275493.2	+	7	968_969	c.791_792insC	c.(790-795)tgccccfs	p.CP264fs	EGFR_ENST00000420316.2_Frame_Shift_Ins_p.CP264fs|EGFR_ENST00000342916.3_Frame_Shift_Ins_p.CP264fs|EGFR_ENST00000344576.2_Frame_Shift_Ins_p.CP264fs|EGFR_ENST00000454757.2_Frame_Shift_Ins_p.CP211fs|EGFR_ENST00000442591.1_Frame_Shift_Ins_p.CP264fs|EGFR_ENST00000455089.1_Frame_Shift_Ins_p.CP219fs	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	264			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AAGGACACCTGCCCCCCACTCA	0.579		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(790-792)tccfs		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)																																			SO:0001589	frameshift_variant	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221747_55221748insC		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.797dupC	7.37:g.55221753_55221753dupC	ENSP00000275493:p.Cys264fs	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)	Somatic				EGFR_ENST00000454757.2_Frame_Shift_Ins_p.S211fs|EGFR_ENST00000455089.1_Frame_Shift_Ins_p.S219fs|EGFR_ENST00000420316.2_Frame_Shift_Ins_p.S264fs|EGFR_ENST00000342916.3_Frame_Shift_Ins_p.S264fs|EGFR_ENST00000442591.1_Frame_Shift_Ins_p.S264fs|EGFR_ENST00000344576.2_Frame_Shift_Ins_p.S264fs	p.S264fs	NM_005228.3	NP_005219.2	WXS	Illumina GAIIx	Phase_I	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	968_969	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		264					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Frame_Shift_Ins	INS	ENST00000275493.2	37	c.791_792insC	CCDS5514.1																																																																																				0.579	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		7	305						7	305	---	---	---	---
CLIP2	7461	broad.mit.edu	37	7	73731912	73731913	+	Frame_Shift_Ins	INS	-	-	G	rs200539524		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:73731912_73731913insG	ENST00000395060.1	+	1	36_37	c.36_37insG	c.(37-39)gggfs	p.G13fs	CLIP2_ENST00000361545.5_Frame_Shift_Ins_p.G13fs|CLIP2_ENST00000223398.6_Frame_Shift_Ins_p.G13fs			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	13						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CCCCCGGCCGTGGGGGGAAGCA	0.658																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(34-39)cgggggfs		CAP-GLY domain containing linker protein 2																																				SO:0001589	frameshift_variant	7461					microtubule associated complex		g.chr7:73731912_73731913insG	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.42dupG	7.37:g.73731918_73731918dupG	ENSP00000378500:p.Gly13fs		Somatic				CLIP2_ENST00000395060.1_Frame_Shift_Ins_p.RG12fs|CLIP2_ENST00000361545.5_Frame_Shift_Ins_p.RG12fs	p.RG12fs	NM_003388.4	NP_003379.3	WXS	Illumina GAIIx	Phase_I	Q9UDT6	CLIP2_HUMAN			2	363_364	+			12					O14527|O43611	Frame_Shift_Ins	INS	ENST00000395060.1	37	c.36_37insG	CCDS5569.1																																																																																				0.658	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		9	855						9	855	---	---	---	---
ZNF777	27153	broad.mit.edu	37	7	149152746	149152747	+	Frame_Shift_Ins	INS	-	-	G	rs538882557	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:149152746_149152747insG	ENST00000247930.4	-	2	690_691	c.367_368insC	c.(367-369)cacfs	p.H123fs		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TTCCTGGTGGTGGGGGGAGTGG	0.619																																						ENST00000247930.4																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(367-369)ccafs		zinc finger protein 777																																				SO:0001589	frameshift_variant	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149152746_149152747insG	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.368dupC	7.37:g.149152752_149152752dupG	ENSP00000247930:p.His123fs		Somatic					p.P123fs	NM_015694.2	NP_056509.2	WXS	Illumina GAIIx	Phase_I	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		2	690_691	-	Melanoma(164;0.165)		123					Q8N2R2|Q8N659	Frame_Shift_Ins	INS	ENST00000247930.4	37	c.367_368insC	CCDS43675.1																																																																																				0.619	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		7	405						7	405	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3267089	3267090	+	Frame_Shift_Ins	INS	-	-	G	rs377751107		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:3267089_3267090insG	ENST00000520002.1	-	14	2157_2158	c.1602_1603insC	c.(1600-1605)cccgccfs	p.A535fs	CSMD1_ENST00000537824.1_Frame_Shift_Ins_p.A534fs|CSMD1_ENST00000602723.1_Frame_Shift_Ins_p.A535fs|CSMD1_ENST00000400186.3_Frame_Shift_Ins_p.A535fs|CSMD1_ENST00000542608.1_Frame_Shift_Ins_p.A534fs|CSMD1_ENST00000539096.1_Frame_Shift_Ins_p.A534fs|CSMD1_ENST00000602557.1_Frame_Shift_Ins_p.A535fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	535	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCCCATAGGCGGGGATTCCAG	0.48																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(1600-1605)cccctafs		CUB and Sushi multiple domains 1																																				SO:0001589	frameshift_variant	64478					integral to membrane		g.chr8:3267089_3267090insG			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1603dupC	8.37:g.3267093_3267093dupG	ENSP00000430733:p.Ala535fs		Somatic				CSMD1_ENST00000542608.1_Frame_Shift_Ins_p.L534fs|CSMD1_ENST00000539096.1_Frame_Shift_Ins_p.L534fs|CSMD1_ENST00000602723.1_Frame_Shift_Ins_p.L535fs|CSMD1_ENST00000537824.1_Frame_Shift_Ins_p.L534fs|CSMD1_ENST00000520002.1_Frame_Shift_Ins_p.L535fs|CSMD1_ENST00000400186.3_Frame_Shift_Ins_p.L535fs	p.L535fs			WXS	Illumina GAIIx	Phase_I	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	14	2157_2158	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	535			Sushi 3.		Q0H0J5|Q96QU9|Q96RM4	Frame_Shift_Ins	INS	ENST00000520002.1	37	c.1602_1603insC																																																																																					0.480	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		19	60						19	60	---	---	---	---
PRSS55	203074	broad.mit.edu	37	8	10387069	10387070	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr8:10387069_10387070insG	ENST00000328655.3	+	2	247_248	c.207_208insG	c.(208-210)gggfs	p.G70fs	PRSS55_ENST00000522210.1_Frame_Shift_Ins_p.G70fs|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	70	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CCAGAATCACAGGGGGGATGGA	0.5																																						ENST00000328655.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						c.(205-210)acggggfs		protease, serine, 55																																				SO:0001589	frameshift_variant	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10387069_10387070insG	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.213dupG	8.37:g.10387075_10387075dupG	ENSP00000333003:p.Gly70fs		Somatic				PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Frame_Shift_Ins_p.TG69fs	p.TG69fs	NM_198464.3	NP_940866.2	WXS	Illumina GAIIx	Phase_I	Q6UWB4	PRS55_HUMAN			2	247_248	+			69			Peptidase S1.		E5RJX5	Frame_Shift_Ins	INS	ENST00000328655.3	37	c.207_208insG	CCDS5976.1																																																																																				0.500	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		21	2840						21	2840	---	---	---	---
BNC2	54796	broad.mit.edu	37	9	16436374	16436375	+	Frame_Shift_Ins	INS	-	-	G	rs116528562|rs142872531	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:16436374_16436375insG	ENST00000380672.4	-	6	1874_1875	c.1817_1818insC	c.(1816-1818)ccgfs	p.P606fs	BNC2_ENST00000380667.2_Frame_Shift_Ins_p.P539fs|BNC2_ENST00000545497.1_Frame_Shift_Ins_p.P511fs|BNC2_ENST00000380666.2_Frame_Shift_Ins_p.P606fs	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CAGAGGGTGGCGGGGGGTGCTG	0.564																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(1816-1818)cccfs		basonuclin 2																																				SO:0001589	frameshift_variant	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16436374_16436375insG	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1818dupC	9.37:g.16436380_16436380dupG	ENSP00000370047:p.Pro606fs		Somatic				BNC2_ENST00000545497.1_Frame_Shift_Ins_p.P511fs|BNC2_ENST00000380666.2_Frame_Shift_Ins_p.P606fs|BNC2_ENST00000380667.2_Frame_Shift_Ins_p.P539fs	p.P606fs	NM_017637.5	NP_060107.3	WXS	Illumina GAIIx	Phase_I	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	1874_1875	-			606			Pro-rich.			Frame_Shift_Ins	INS	ENST00000380672.4	37	c.1817_1818insC	CCDS6482.2																																																																																				0.564	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		13	750						13	750	---	---	---	---
ROR2	4920	broad.mit.edu	37	9	94493291	94493292	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:94493291_94493292insC	ENST00000375708.3	-	7	1281_1282	c.1083_1084insG	c.(1081-1086)gggcacfs	p.H362fs	ROR2_ENST00000375715.1_Frame_Shift_Ins_p.H222fs|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	362	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CAGTAGGCGTGCCCCCCTCCAA	0.629																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(1081-1086)ggacgcfs		receptor tyrosine kinase-like orphan receptor 2																																				SO:0001589	frameshift_variant	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94493291_94493292insC	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1084dupG	9.37:g.94493297_94493297dupC	ENSP00000364860:p.His362fs		Somatic				ROR2_ENST00000375715.1_Frame_Shift_Ins_p.R222fs|ROR2_ENST00000550066.1_5'UTR	p.R362fs	NM_004560.3	NP_004551.2	WXS	Illumina GAIIx	Phase_I	Q01974	ROR2_HUMAN			7	1281_1282	-			362			Kringle.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Frame_Shift_Ins	INS	ENST00000375708.3	37	c.1083_1084insG	CCDS6691.1																																																																																				0.629	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			9	523						9	523	---	---	---	---
ZNF510	22869	broad.mit.edu	37	9	99521719	99521719	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:99521719delA	ENST00000375231.1	-	6	2043	c.1393delT	c.(1393-1395)tgtfs	p.C465fs	ZNF510_ENST00000223428.4_Frame_Shift_Del_p.C465fs			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	465					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTTTTTCCACATTCATTACAT	0.373																																						ENST00000375231.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21						c.(1393-1395)gtfs		zinc finger protein 510							101.0	102.0	102.0					9																	99521719		2203	4300	6503	SO:0001589	frameshift_variant	22869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99521719delA	AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"""Zinc fingers, C2H2-type"", ""-"""	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.1393delT	9.37:g.99521719delA	ENSP00000364379:p.Cys465fs		Somatic				ZNF510_ENST00000223428.4_Frame_Shift_Del_p.C465fs	p.C465fs			WXS	Illumina GAIIx	Phase_I	Q9Y2H8	ZN510_HUMAN			6	2043	-		Acute lymphoblastic leukemia(62;0.0527)	465					Q5SZP5	Frame_Shift_Del	DEL	ENST00000375231.1	37	c.1393delT	CCDS35074.1																																																																																				0.373	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053287.1	NM_014930		7	231						7	231	---	---	---	---
NTMT1	28989	broad.mit.edu	37	9	132395075	132395076	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr9:132395075_132395076insG	ENST00000372486.1	+	2	442_443	c.93_94insG	c.(94-96)gggfs	p.G32fs	NTMT1_ENST00000482347.1_Intron|NTMT1_ENST00000486391.2_3'UTR|NTMT1_ENST00000372483.4_Frame_Shift_Ins_p.G32fs|NTMT1_ENST00000372481.3_Frame_Shift_Ins_p.G32fs|NTMT1_ENST00000372480.1_Frame_Shift_Ins_p.G32fs|NTMT1_ENST00000459968.2_Frame_Shift_Ins_p.G32fs			Q9BV86	NTM1A_HUMAN	N-terminal Xaa-Pro-Lys N-methyltransferase 1	32					chromosome segregation (GO:0007059)|N-terminal peptidyl-proline dimethylation (GO:0018016)|N-terminal peptidyl-serine dimethylation (GO:0035572)|N-terminal peptidyl-serine trimethylation (GO:0035573)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein methyltransferase activity (GO:0008276)										ACGGCATGCTTGGGGGGTATGG	0.55																																						ENST00000372486.1																			0											c.(91-96)ctggggfs		N-terminal Xaa-Pro-Lys N-methyltransferase 1																																				SO:0001589	frameshift_variant	28989							g.chr9:132395075_132395076insG	AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	"""chromosome 9 open reading frame 32"", ""methyltransferase like 11A"""	C9orf32, METTL11A		20481588	Standard	XM_005251939		Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.99dupG	9.37:g.132395081_132395081dupG	ENSP00000361564:p.Gly32fs		Somatic				NTMT1_ENST00000372481.3_Frame_Shift_Ins_p.LG31fs|NTMT1_ENST00000482347.1_Intron|NTMT1_ENST00000372483.4_Frame_Shift_Ins_p.LG31fs|NTMT1_ENST00000486391.2_3'UTR|NTMT1_ENST00000372480.1_Frame_Shift_Ins_p.LG31fs|NTMT1_ENST00000459968.2_Frame_Shift_Ins_p.LG31fs	p.LG31fs			WXS	Illumina GAIIx	Phase_I					2	442_443	+								A8K4J2|A8K8G7|Q5SZB9|Q9UI28	Frame_Shift_Ins	INS	ENST00000372486.1	37	c.93_94insG	CCDS35160.1																																																																																				0.550	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054589.1	NM_014064		23	797						23	797	---	---	---	---
ZNF32	7580	broad.mit.edu	37	10	44139605	44139605	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:44139605delG	ENST00000395797.1	-	3	903	c.715delC	c.(715-717)cacfs	p.H239fs	ZNF32-AS1_ENST00000453284.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000485351.1_5'Flank|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32_ENST00000374433.2_Frame_Shift_Del_p.H239fs	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	239					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(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TCTCCTGTGTGGATTTTGCCA	0.547																																						ENST00000395797.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14						c.(715-717)acfs		zinc finger protein 32							85.0	85.0	85.0					10																	44139605		2203	4300	6503	SO:0001589	frameshift_variant	7580				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr10:44139605delG	U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"""Zinc fingers, C2H2-type"""	13095	protein-coding gene	gene with protein product		194539	"""zinc finger protein 32 (KOX 30)"""				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.715delC	10.37:g.44139605delG	ENSP00000379143:p.His239fs		Somatic				ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000374433.2_Frame_Shift_Del_p.H239fs	p.H239fs	NM_001005368.1	NP_001005368.1	WXS	Illumina GAIIx	Phase_I	P17041	ZNF32_HUMAN		Lung(62;0.179)	3	903	-		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)	239					Q92951	Frame_Shift_Del	DEL	ENST00000395797.1	37	c.715delC	CCDS7206.1																																																																																				0.547	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1	NM_006973		7	31						7	31	---	---	---	---
UBTD1	80019	broad.mit.edu	37	10	99330115	99330116	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:99330115_99330116insCT	ENST00000370664.3	+	3	855_856	c.519_520insCT	c.(520-522)ctcfs	p.L174fs	ANKRD2_ENST00000455090.1_5'Flank|ANKRD2_ENST00000370655.1_5'Flank|ANKRD2_ENST00000298808.5_5'Flank|ANKRD2_ENST00000307518.5_5'Flank	NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	174	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.									central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		CAGTGGGGCAGCTCAAGAGGCA	0.678																																					Pancreas(100;169 2668 32720)	ENST00000370664.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7						c.(517-522)catcaafs		ubiquitin domain containing 1																																				SO:0001589	frameshift_variant	80019							g.chr10:99330115_99330116insCT	BC007331	CCDS7465.1	10q24.2	2005-09-22			ENSG00000165886	ENSG00000165886			25683	protein-coding gene	gene with protein product						12477932	Standard	NM_024954		Approved	FLJ11807	uc001knv.1	Q9HAC8	OTTHUMG00000018856	ENST00000370664.3:c.520_521dupCT	10.37:g.99330116_99330117dupCT	ENSP00000359698:p.Leu174fs		Somatic					p.Q174fs	NM_024954.3	NP_079230.1	WXS	Illumina GAIIx	Phase_I	Q9HAC8	UBTD1_HUMAN		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)	3	855_856	+		Colorectal(252;0.162)	174			Ubiquitin-like.		D3DR57|Q53HI3	Frame_Shift_Ins	INS	ENST00000370664.3	37	c.519_520insCT	CCDS7465.1																																																																																				0.678	UBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049701.1	NM_024954		14	13						14	13	---	---	---	---
SEC31B	25956	broad.mit.edu	37	10	102265254	102265255	+	Splice_Site	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:102265254_102265255insG	ENST00000370345.3	-	10	1142		c.e10-2		SEC31B_ENST00000451524.1_Splice_Site	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)						protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AGAGGAGATCTGGGGGGAAAAG	0.53																																						ENST00000370345.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36						c.e10-2		SEC31 homolog B (S. cerevisiae)																																				SO:0001630	splice_region_variant	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102265254_102265255insG	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.1045-2->C	10.37:g.102265260_102265260dupG			Somatic				SEC31B_ENST00000451524.1_Splice_Site		NM_015490.3	NP_056305.1	WXS	Illumina GAIIx	Phase_I	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	10	1142	-		Colorectal(252;0.117)						B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Splice_Site	INS	ENST00000370345.3	37		CCDS7495.1																																																																																				0.530	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490	Intron	9	500						9	500	---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124402882	124402883	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:124402882_124402883insC	ENST00000338354.3	+	53	7316_7317	c.7210_7211insC	c.(7210-7212)accfs	p.T2404fs	DMBT1_ENST00000359586.6_Frame_Shift_Ins_p.T1124fs|DMBT1_ENST00000330163.4_Frame_Shift_Ins_p.T1776fs|DMBT1_ENST00000368955.3_Frame_Shift_Ins_p.T2394fs|DMBT1_ENST00000368909.3_Frame_Shift_Ins_p.T2404fs|DMBT1_ENST00000344338.3_Frame_Shift_Ins_p.T2394fs|DMBT1_ENST00000368956.2_Frame_Shift_Ins_p.T1776fs			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2404					defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCAGCTGCAGACCCCCCCACGC	0.644																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(7210-7212)cccfs		deleted in malignant brain tumors 1																																				SO:0001589	frameshift_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124402882_124402883insC		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.7217dupC	10.37:g.124402889_124402889dupC	ENSP00000342210:p.Thr2404fs		Somatic				DMBT1_ENST00000330163.4_Frame_Shift_Ins_p.P1776fs|DMBT1_ENST00000359586.6_Frame_Shift_Ins_p.P1124fs|DMBT1_ENST00000368956.2_Frame_Shift_Ins_p.P1776fs|DMBT1_ENST00000338354.3_Frame_Shift_Ins_p.P2404fs|DMBT1_ENST00000368955.3_Frame_Shift_Ins_p.P2394fs|DMBT1_ENST00000344338.3_Frame_Shift_Ins_p.P2394fs	p.P2404fs	NM_007329.2	NP_015568.2	WXS	Illumina GAIIx	Phase_I	Q9UGM3	DMBT1_HUMAN			53	7316_7317	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2404					A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Frame_Shift_Ins	INS	ENST00000338354.3	37	c.7210_7211insC																																																																																					0.644	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		8	45						8	45	---	---	---	---
PIK3C2A	5286	broad.mit.edu	37	11	17190948	17190949	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:17190948_17190949insT	ENST00000265970.7	-	1	339_340	c.340_341insA	c.(340-342)acafs	p.T114fs	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	114	Interaction with clathrin; sufficient to induce clathrin assemby.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	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 binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TAATACAGGTGTTTTTTTAGTC	0.406																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(340-342)accfs		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17190948_17190949insT	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.341dupA	11.37:g.17190955_17190955dupT	ENSP00000265970:p.Thr114fs		Somatic				PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	p.T114fs	NM_002645.2	NP_002636.2	WXS	Illumina GAIIx	Phase_I	O00443	P3C2A_HUMAN			1	339_340	-			114			Interaction with clathrin.		B0LPH2|B4E2G4|Q14CQ9	Frame_Shift_Ins	INS	ENST00000265970.7	37	c.340_341insA	CCDS7824.1																																																																																				0.406	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		7	743						7	743	---	---	---	---
PRR5L	79899	broad.mit.edu	37	11	36484165	36484166	+	Frame_Shift_Ins	INS	-	-	C	rs143061946		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:36484165_36484166insC	ENST00000378867.3	+	10	1341_1342	c.986_987insC	c.(985-990)ttccccfs	p.FP329fs	PRR5L_ENST00000311599.5_Frame_Shift_Ins_p.FP256fs|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000530639.1_Frame_Shift_Ins_p.FP329fs	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	329					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CCACCCAGCTTCCCCCCGCCCC	0.673																																						ENST00000378867.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						c.(985-987)tccfs		proline rich 5 like																																				SO:0001589	frameshift_variant	79899							g.chr11:36484165_36484166insC		CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"""protein observed with Rictor-2"""	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.992dupC	11.37:g.36484171_36484171dupC	ENSP00000368144:p.Phe329fs		Somatic				PRR5L_ENST00000530639.1_Frame_Shift_Ins_p.S329fs|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Frame_Shift_Ins_p.S256fs	p.S329fs	NM_024841.4	NP_079117.3	WXS	Illumina GAIIx	Phase_I	Q6MZQ0	PRR5L_HUMAN			10	1341_1342	+			329					A4QN22|E9PKY1|Q96H46|Q9H7V4	Frame_Shift_Ins	INS	ENST00000378867.3	37	c.986_987insC	CCDS31463.1																																																																																				0.673	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389209.1	NM_024841		7	311						7	311	---	---	---	---
LRP4	4038	broad.mit.edu	37	11	46900582	46900588	+	Splice_Site	DEL	TGTAGAC	TGTAGAC	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:46900582_46900588delTGTAGAC	ENST00000378623.1	-	22	3248_3254	c.3006_3012delGTCTACA	c.(3004-3012)gtgtctaca>gt	p.VST1002fs		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1002					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)		TAGCACATGGTGTAGACACTGGGTAGA	0.594																																						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.e22-1		low density lipoprotein receptor-related protein 4																																				SO:0001630	splice_region_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46900582_46900588delTGTAGAC	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.3005-1GTCTACA>-	11.37:g.46900582_46900588delTGTAGAC			Somatic					p.VST1002_splice	NM_002334.3	NP_002325.2	WXS	Illumina GAIIx	Phase_I	O75096	LRP4_HUMAN		Lung(87;0.159)	22	3248_3254	-			1002					B2RN39|Q4AC85|Q5KTZ5	Splice_Site	DEL	ENST00000378623.1	37	c.3004_splice	CCDS31478.1																																																																																				0.594	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334	Frame_Shift_Del	62	455						62	455	---	---	---	---
SMTNL1	219537	broad.mit.edu	37	11	57308986	57308987	+	5'Flank	INS	-	-	G	rs188018082|rs373187377		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:57308986_57308987insG	ENST00000399154.2	+	0	0				SMTNL1_ENST00000457912.1_Frame_Shift_Ins_p.PG3fs|SMTNL1_ENST00000527972.1_5'Flank			A8MU46	SMTL1_HUMAN	smoothelin-like 1						negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						CCCATGCTCCCGGGGGCAGTTG	0.525																																						ENST00000457912.1																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						c.(7-9)cggfs		smoothelin-like 1																																				SO:0001631	upstream_gene_variant	219537							g.chr11:57308986_57308987insG	BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"""calponin homology-associated smooth muscle protein"""	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46			11.37:g.57308991_57308991dupG	Exception_encountered		Somatic					p.R3fs			WXS	Illumina GAIIx	Phase_I	E9PPJ3	E9PPJ3_HUMAN			1	8_9	+			0						Frame_Shift_Ins	INS	ENST00000399154.2	37	c.8_9insG																																																																																					0.525	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166203		10	1109						10	1109	---	---	---	---
STIP1	10963	broad.mit.edu	37	11	63965370	63965370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:63965370delA	ENST00000305218.4	+	8	1094	c.947delA	c.(946-948)tacfs	p.Y316fs	STIP1_ENST00000358794.5_Frame_Shift_Del_p.Y363fs|STIP1_ENST00000538945.1_Frame_Shift_Del_p.Y292fs	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	316					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						GAAGAAAAGTACAAGGATGCC	0.453																																						ENST00000358794.5																			0				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						c.(1087-1089)tcfs		stress-induced-phosphoprotein 1							163.0	174.0	170.0					11																	63965370		2201	4297	6498	SO:0001589	frameshift_variant	10963				axon guidance|response to stress	Golgi apparatus|nucleus		g.chr11:63965370delA	BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"""Tetratricopeptide (TTC) repeat domain containing"""	11387	protein-coding gene	gene with protein product	"""Hsp70/Hsp90-organizing protein"""	605063	"""stress-induced-phosphoprotein 1"""			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.947delA	11.37:g.63965370delA	ENSP00000305958:p.Tyr316fs		Somatic				STIP1_ENST00000538945.1_Frame_Shift_Del_p.Y292fs|STIP1_ENST00000305218.4_Frame_Shift_Del_p.Y316fs	p.Y363fs			WXS	Illumina GAIIx	Phase_I	P31948	STIP1_HUMAN			8	1641	+			316					B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Frame_Shift_Del	DEL	ENST00000305218.4	37	c.1088delA	CCDS8058.1																																																																																				0.453	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396289.2	NM_006819		82	324						82	324	---	---	---	---
RPS6KA4	8986	broad.mit.edu	37	11	64129350	64129351	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:64129350_64129351insC	ENST00000334205.4	+	8	847_848	c.782_783insC	c.(781-786)ttccccfs	p.FP261fs	RPS6KA4_ENST00000294261.4_Frame_Shift_Ins_p.FP261fs|RPS6KA4_ENST00000528057.1_Frame_Shift_Ins_p.FP261fs	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	261	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						TCCCCTCCCTTCCCCCCTCGGA	0.693																																						ENST00000528057.1																			0				breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						c.(781-783)tccfs		ribosomal protein S6 kinase, 90kDa, polypeptide 4																																				SO:0001589	frameshift_variant	8986				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity	g.chr11:64129350_64129351insC	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"""ribosomal protein S6 kinase, 90kD, polypeptide 4"""			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.788dupC	11.37:g.64129356_64129356dupC	ENSP00000333896:p.Phe261fs		Somatic				RPS6KA4_ENST00000334205.4_Frame_Shift_Ins_p.S261fs|RPS6KA4_ENST00000294261.4_Frame_Shift_Ins_p.S261fs	p.S261fs	NM_001006944.1	NP_001006945.1	WXS	Illumina GAIIx	Phase_I	O75676	KS6A4_HUMAN			8	870_871	+			261			Protein kinase 1.		A8K7Z8|O75585|Q53ES8	Frame_Shift_Ins	INS	ENST00000334205.4	37	c.782_783insC	CCDS8073.1																																																																																				0.693	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	NM_003942		8	360						8	360	---	---	---	---
ACTN3	89	broad.mit.edu	37	11	66321993	66321994	+	RNA	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:66321993_66321994insC	ENST00000502692.1	+	0	714				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly (GO:0048041)|muscle filament sliding (GO:0030049)|regulation of apoptotic process (GO:0042981)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						TCCTCCCACCTCCCCCCGACCC	0.53																																						ENST00000513398.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10								actinin, alpha 3 (gene/pseudogene)																																						89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66321993_66321994insC	M86407		11q13.2	2013-10-02	2012-10-05		ENSG00000248746	ENSG00000248746			165	protein-coding gene	gene with protein product		102574	"""actinin, alpha 3"""			1339456	Standard	NM_001104		Approved		uc031qbp.1	Q08043	OTTHUMG00000160815		11.37:g.66321999_66321999dupC			Somatic				ACTN3_ENST00000502692.1_RNA		NM_001104.2	NP_001095.1	WXS	Illumina GAIIx	Phase_I	Q08043	ACTN3_HUMAN			0	566	+								A6NP77|Q4KKV2	RNA	INS	ENST00000502692.1	37																																																																																						0.530	ACTN3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000362465.1	NM_001104		14	608						14	608	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89403730	89403731	+	RNA	INS	-	-	AAAC	rs377075488|rs371511332	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:89403730_89403731insAAAC	ENST00000532352.1	+	0	994							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						aaagtgaaTCAaaacaaacaaa	0.347														311	0.0621006	0.1551	0.0187	5008	,	,		18533	0.0317		0.0099	False		,,,				2504	0.0521					ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89403730_89403731insAAAC	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89403735_89403738dupAAAC			Somatic								WXS	Illumina GAIIx	Phase_I	Q9HBA9	FOH1B_HUMAN			0	994	+									RNA	INS	ENST00000532352.1	37																																																																																						0.347	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		7	30						7	30	---	---	---	---
LEPREL2	10536	broad.mit.edu	37	12	6946203	6946204	+	RNA	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:6946203_6946204insC	ENST00000538102.1	+	0	663_664				LEPREL2_ENST00000251761.8_RNA|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA			Q8IVL6	P3H3_HUMAN	leprecan-like 2						extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)	endoplasmic reticulum lumen (GO:0005788)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			breast(1)|cervix(1)|endometrium(2)|lung(6)	10					L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTCCCCTCACACCCCCCATGAA	0.644																																						ENST00000251761.8																			0				breast(1)|cervix(1)|endometrium(2)|lung(6)	10								leprecan-like 2																																						10536							g.chr12:6946203_6946204insC	U47926	CCDS61027.1	12p13.31	2014-03-25			ENSG00000110811	ENSG00000110811			19318	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 3"""	610342				15063763	Standard	NM_014262		Approved	GRCB, HSU47926, P3H3		Q8IVL6	OTTHUMG00000168516		12.37:g.6946209_6946209dupC			Somatic				LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA		NM_014262.3	NP_055077.2	WXS	Illumina GAIIx	Phase_I					0	1546_1547	+								Q13512|Q15740|Q66K32|Q6NX61|Q7L2T1	RNA	INS	ENST00000538102.1	37																																																																																						0.644	LEPREL2-006	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000399998.1	NM_014262		7	263						7	263	---	---	---	---
ART4	420	broad.mit.edu	37	12	14993710	14993711	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:14993710_14993711insC	ENST00000228936.4	-	2	902_903	c.521_522insG	c.(520-522)agcfs	p.S174fs	RP11-233G1.4_ENST00000444324.2_RNA|C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)	174					arginine metabolic process (GO:0006525)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						TCTCCATGATGCTGTCTTTCCT	0.48																																						ENST00000228936.4																			0				large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						c.(520-522)aatfs		ADP-ribosyltransferase 4																																				SO:0001589	frameshift_variant	420				arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	g.chr12:14993710_14993711insC	X95826	CCDS8668.1	12q13.2-q13.3	2014-07-18	2014-01-02	2006-01-12	ENSG00000111339	ENSG00000111339		"""CD molecules"", ""Blood group antigens"""	726	protein-coding gene	gene with protein product		110600	"""Dombrock blood group"", ""ADP-ribosyltransferase 4 (DO blood group)"", ""ADP-ribosyltransferase 4"""	DO		9119374	Standard	NM_021071		Approved	DOK1, CD297	uc001rcl.1	Q93070	OTTHUMG00000168738	ENST00000228936.4:c.522dupG	12.37:g.14993711_14993711dupC	ENSP00000228936:p.Ser174fs		Somatic				C12orf60_ENST00000527783.1_Intron	p.N174fs	NM_021071.2	NP_066549.2	WXS	Illumina GAIIx	Phase_I	Q93070	NAR4_HUMAN			2	902_903	-			174					Q9BZ50|Q9BZ51|Q9HB06	Frame_Shift_Ins	INS	ENST00000228936.4	37	c.521_522insG	CCDS8668.1																																																																																				0.480	ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400859.1	NM_021071		7	457						7	457	---	---	---	---
SLCO1C1	53919	broad.mit.edu	37	12	20885883	20885884	+	Frame_Shift_Ins	INS	-	-	G	rs368038819		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:20885883_20885884insG	ENST00000266509.2	+	10	1595_1596	c.1227_1228insG	c.(1228-1230)gggfs	p.G410fs	SLCO1C1_ENST00000381552.1_Frame_Shift_Ins_p.G410fs|SLCO1C1_ENST00000540354.1_Frame_Shift_Ins_p.G361fs|SLCO1C1_ENST00000545102.1_Frame_Shift_Ins_p.G292fs|SLCO1C1_ENST00000545604.1_Frame_Shift_Ins_p.G410fs	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	410					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	GAATATTCTCTGGGGGGATAGT	0.381																																						ENST00000381552.1																			0				NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(1225-1230)tcggggfs		solute carrier organic anion transporter family, member 1C1			,,,	0,4264		0,0,2132					,,,	1.2	1.0			100	1,8253		0,1,4126	no	frameshift,frameshift,frameshift,frameshift	SLCO1C1	NM_017435.4,NM_001145946.1,NM_001145945.1,NM_001145944.1	,,,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,,,	,,,		1,12517				SO:0001589	frameshift_variant	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20885883_20885884insG	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1233dupG	12.37:g.20885889_20885889dupG	ENSP00000266509:p.Gly410fs		Somatic				SLCO1C1_ENST00000540354.1_Frame_Shift_Ins_p.SG360fs|SLCO1C1_ENST00000545102.1_Frame_Shift_Ins_p.SG291fs|SLCO1C1_ENST00000545604.1_Frame_Shift_Ins_p.SG409fs|SLCO1C1_ENST00000266509.2_Frame_Shift_Ins_p.SG409fs	p.SG409fs			WXS	Illumina GAIIx	Phase_I	Q9NYB5	SO1C1_HUMAN			10	1595_1596	+	Esophageal squamous(101;0.149)		409					B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Frame_Shift_Ins	INS	ENST00000266509.2	37	c.1227_1228insG	CCDS8683.1																																																																																				0.381	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		7	445						7	445	---	---	---	---
SPRYD3	84926	broad.mit.edu	37	12	53468917	53468917	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:53468917delC	ENST00000301463.4	-	4	419	c.333delG	c.(331-333)tggfs	p.W111fs	SPRYD3_ENST00000547837.1_Frame_Shift_Del_p.W148fs	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	111	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						AGTCAGGCAACCAGCCAGGCT	0.532																																						ENST00000301463.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(331-333)tgfs		SPRY domain containing 3							99.0	99.0	99.0					12																	53468917		2203	4300	6503	SO:0001589	frameshift_variant	84926							g.chr12:53468917delC	AK074694	CCDS8845.1	12q13.13	2006-11-29		2006-02-02		ENSG00000167778			25920	protein-coding gene	gene with protein product						14702039	Standard	NM_032840		Approved	FLJ14800	uc001sbt.2	Q8NCJ5	OTTHUMG00000170101	ENST00000301463.4:c.333delG	12.37:g.53468917delC	ENSP00000301463:p.Trp111fs		Somatic				SPRYD3_ENST00000547837.1_Frame_Shift_Del_p.W148fs	p.W111fs	NM_032840.2	NP_116229.1	WXS	Illumina GAIIx	Phase_I	Q8NCJ5	SPRY3_HUMAN			4	419	-			111			B30.2/SPRY.		B9EG99|Q96SK5	Frame_Shift_Del	DEL	ENST00000301463.4	37	c.333delG	CCDS8845.1																																																																																				0.532	SPRYD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407264.1	NM_032840		18	161						18	161	---	---	---	---
ITGA5	3678	broad.mit.edu	37	12	54801454	54801454	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:54801454delT	ENST00000293379.4	-	9	1146	c.885delA	c.(883-885)aaafs	p.K295fs	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	295					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TGAGGTTCCCTTTGGGCACAC	0.522																																						ENST00000293379.4																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						c.(883-885)aafs		integrin, alpha 5 (fibronectin receptor, alpha polypeptide)							98.0	76.0	83.0					12																	54801454		2203	4300	6503	SO:0001589	frameshift_variant	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54801454delT		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.885delA	12.37:g.54801454delT	ENSP00000293379:p.Lys295fs		Somatic				RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	p.K295fs	NM_002205.2	NP_002196.2	WXS	Illumina GAIIx	Phase_I	P08648	ITA5_HUMAN			9	1146	-			295					Q96HA5	Frame_Shift_Del	DEL	ENST00000293379.4	37	c.885delA	CCDS8880.1																																																																																				0.522	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			11	167						11	167	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56575340	56575341	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:56575340_56575341insC	ENST00000267064.4	-	10	967_968	c.881_882insG	c.(880-882)ggafs	p.G294fs	SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.G294fs|SMARCC2_ENST00000394023.3_Frame_Shift_Ins_p.G294fs|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.G294fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550859.1_5'Flank	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	294					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)			TCTTATAGTTTCCCCCCTTCTT	0.515																																						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.(880-882)gaafs		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.chr12:56575340_56575341insC	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.882dupG	12.37:g.56575346_56575346dupC	ENSP00000267064:p.Gly294fs		Somatic				SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.E294fs|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.E294fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.E294fs	p.E294fs	NM_001130420.1	NP_001123892.1	WXS	Illumina GAIIx	Phase_I	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		10	986_987	-			294					F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Frame_Shift_Ins	INS	ENST00000267064.4	37	c.881_882insG	CCDS8907.1																																																																																				0.515	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			13	648						13	648	---	---	---	---
GLS2	27165	broad.mit.edu	37	12	56867067	56867067	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:56867067delT	ENST00000311966.4	-	14	1672	c.1394delA	c.(1393-1395)aacfs	p.N465fs	GLS2_ENST00000476991.1_5'Flank	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	465					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)	GTGCCTCAGGTTGTCATAGTT	0.423																																						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.(1393-1395)acfs		glutaminase 2 (liver, mitochondrial)	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						100.0	99.0	99.0					12																	56867067		2203	4300	6503	SO:0001589	frameshift_variant	27165				cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding	g.chr12:56867067delT		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.1394delA	12.37:g.56867067delT	ENSP00000310447:p.Asn465fs		Somatic					p.N465fs	NM_013267.2	NP_037399.2	WXS	Illumina GAIIx	Phase_I	Q9UI32	GLSL_HUMAN			14	1672	-			465					B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Frame_Shift_Del	DEL	ENST00000311966.4	37	c.1394delA	CCDS8921.1																																																																																				0.423	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277113.1	NM_013267		19	384						19	384	---	---	---	---
NAB2	4665	broad.mit.edu	37	12	57485596	57485597	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:57485596_57485597insG	ENST00000300131.3	+	2	1150_1151	c.772_773insG	c.(772-774)aggfs	p.R258fs	NAB2_ENST00000357680.4_Frame_Shift_Ins_p.R258fs|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000342556.6_Frame_Shift_Ins_p.R258fs	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	258				PR -> Q (in Ref. 6 and 7). {ECO:0000305}.	cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GAGCTTCCCAAGGGGGGATGCT	0.574																																						ENST00000300131.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(772-774)gggfs		NGFI-A binding protein 2 (EGR1 binding protein 2)																																				SO:0001589	frameshift_variant	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57485596_57485597insG	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.778dupG	12.37:g.57485602_57485602dupG	ENSP00000300131:p.Arg258fs		Somatic				NAB2_ENST00000342556.6_Frame_Shift_Ins_p.G258fs|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Frame_Shift_Ins_p.G258fs	p.G258fs	NM_005967.3	NP_005958.1	WXS	Illumina GAIIx	Phase_I	Q15742	NAB2_HUMAN			2	1150_1151	+			258	PR -> Q (in Ref. 6 and 7).				B2RAK3|O76006|Q14797	Frame_Shift_Ins	INS	ENST00000300131.3	37	c.772_773insG	CCDS8930.1																																																																																				0.574	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		8	588						8	588	---	---	---	---
RFX4	5992	broad.mit.edu	37	12	107126021	107126022	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:107126021_107126022delAG	ENST00000392842.1	+	14	1879_1880	c.1465_1466delAG	c.(1465-1467)agcfs	p.S489fs	RFX4_ENST00000229387.5_Frame_Shift_Del_p.S395fs|RP11-482D24.3_ENST00000552415.1_RNA|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Frame_Shift_Del_p.S498fs	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	489					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GGGAGAAGGAAGCACTGGTAAG	0.431																																						ENST00000392842.1																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(1465-1467)cfs		regulatory factor X, 4 (influences HLA class II expression)																																				SO:0001589	frameshift_variant	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107126021_107126022delAG	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.1465_1466delAG	12.37:g.107126021_107126022delAG	ENSP00000376585:p.Ser489fs		Somatic				RFX4_ENST00000229387.5_Frame_Shift_Del_p.S395fs|RFX4_ENST00000357881.4_Frame_Shift_Del_p.S498fs|RP11-144F15.1_ENST00000551505.1_Intron|RP11-482D24.3_ENST00000552415.1_RNA	p.S489fs	NM_213594.2	NP_998759.1	WXS	Illumina GAIIx	Phase_I	Q33E94	RFX4_HUMAN			14	1879_1880	+			489					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Frame_Shift_Del	DEL	ENST00000392842.1	37	c.1465_1466delAG	CCDS9106.1																																																																																				0.431	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		40	453						40	453	---	---	---	---
LRRC43	254050	broad.mit.edu	37	12	122670832	122670833	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:122670832_122670833insC	ENST00000339777.4	+	3	535_536	c.507_508insC	c.(508-510)cccfs	p.P170fs	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	170										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CCACCAATCTGCCCCCCACACT	0.569																																						ENST00000339777.4																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(505-510)ctccccfs		leucine rich repeat containing 43																																				SO:0001589	frameshift_variant	254050							g.chr12:122670832_122670833insC	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.513dupC	12.37:g.122670838_122670838dupC	ENSP00000344233:p.Pro170fs		Somatic				LRRC43_ENST00000425921.1_5'UTR	p.LP169fs	NM_152759.4	NP_689972.3	WXS	Illumina GAIIx	Phase_I	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	3	535_536	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		169					Q6ZVT9	Frame_Shift_Ins	INS	ENST00000339777.4	37	c.507_508insC	CCDS45001.1																																																																																				0.569	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		7	132						7	132	---	---	---	---
CCDC62	84660	broad.mit.edu	37	12	123276590	123276591	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr12:123276590_123276591insA	ENST00000253079.6	+	6	1038_1039	c.694_695insA	c.(694-696)gaafs	p.E232fs	CCDC62_ENST00000537566.1_Intron|CCDC62_ENST00000392441.4_Frame_Shift_Ins_p.E232fs|CCDC62_ENST00000392440.2_Intron	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	232					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		AAAGACGACAGAAAATAATGAG	0.381																																						ENST00000253079.6																			0				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.(694-696)aaafs		coiled-coil domain containing 62																																				SO:0001589	frameshift_variant	84660					cytoplasm|nucleus		g.chr12:123276590_123276591insA		CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.698dupA	12.37:g.123276594_123276594dupA	ENSP00000253079:p.Glu232fs		Somatic				CCDC62_ENST00000392440.2_Intron|CCDC62_ENST00000392441.4_Frame_Shift_Ins_p.K232fs|CCDC62_ENST00000537566.1_Intron	p.K232fs	NM_201435.4	NP_958843.2	WXS	Illumina GAIIx	Phase_I	Q6P9F0	CCD62_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)	6	1038_1039	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		232					A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Frame_Shift_Ins	INS	ENST00000253079.6	37	c.694_695insA	CCDS9238.1																																																																																				0.381	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400930.1	NM_032573		9	998						9	998	---	---	---	---
LINC00457	100874179	broad.mit.edu	37	13	35129895	35129896	+	lincRNA	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr13:35129895_35129896insA	ENST00000605909.1	+	0	170				RP11-266E6.3_ENST00000606365.1_lincRNA																							ggctgtgatactcgccctaaaa	0.47																																						ENST00000605909.1																			0																																																			100874179							g.chr13:35129895_35129896insA																													13.37:g.35129895_35129896insA			Somatic				RP11-266E6.3_ENST00000606365.1_lincRNA				WXS	Illumina GAIIx	Phase_I					0	170	+									RNA	INS	ENST00000605909.1	37																																																																																						0.470	RP11-16D22.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000471166.1			8	4						8	4	---	---	---	---
HECTD1	25831	broad.mit.edu	37	14	31590706	31590706	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:31590706delC	ENST00000399332.1	-	28	5609	c.5121delG	c.(5119-5121)ctgfs	p.L1707fs	HECTD1_ENST00000553700.1_Frame_Shift_Del_p.L1707fs	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1707					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ATGGGCGTCTCAGAATCTAAA	0.478																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(5119-5121)ctfs		HECT domain containing E3 ubiquitin protein ligase 1							56.0	61.0	59.0					14																	31590706		1911	4117	6028	SO:0001589	frameshift_variant	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31590706delC	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.5121delG	14.37:g.31590706delC	ENSP00000382269:p.Leu1707fs		Somatic				HECTD1_ENST00000553700.1_Frame_Shift_Del_p.L1707fs	p.L1707fs	NM_015382.2	NP_056197.2	WXS	Illumina GAIIx	Phase_I	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	28	5609	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1707					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Frame_Shift_Del	DEL	ENST00000399332.1	37	c.5121delG	CCDS41939.1																																																																																				0.478	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			26	323						26	323	---	---	---	---
CDKL1	8814	broad.mit.edu	37	14	50862468	50862468	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:50862468delT	ENST00000216378.2	-	2	766	c.122delA	c.(121-123)gatfs	p.D42fs	CDKL1_ENST00000395834.1_Frame_Shift_Del_p.D42fs|CDKL1_ENST00000356146.1_5'UTR|RP11-247L20.3_ENST00000556713.1_lincRNA	NM_001282236.1	NP_001269165.1	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	41	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					GACAGGGTCATCTTCTGATTC	0.403																																						ENST00000216378.2																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12						c.(121-123)gtfs		cyclin-dependent kinase-like 1 (CDC2-related kinase)							79.0	85.0	83.0					14																	50862468		2203	4300	6503	SO:0001589	frameshift_variant	8814					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr14:50862468delT	AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"""Cyclin-dependent kinases"""	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000216378.2:c.122delA	14.37:g.50862468delT	ENSP00000216378:p.Asp42fs		Somatic				CDKL1_ENST00000395834.1_Frame_Shift_Del_p.D42fs|CDKL1_ENST00000356146.1_5'UTR	p.D42fs			WXS	Illumina GAIIx	Phase_I	Q00532	CDKL1_HUMAN			2	766	-	all_epithelial(31;0.000746)|Breast(41;0.0102)		41			Protein kinase.		Q2M3A4|Q6QUA0|Q8WXQ5	Frame_Shift_Del	DEL	ENST00000216378.2	37	c.122delA																																																																																					0.403	CDKL1-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382103.1			44	127						44	127	---	---	---	---
DPF3	8110	broad.mit.edu	37	14	73159843	73159844	+	Frame_Shift_Ins	INS	-	-	C	rs558289942		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:73159843_73159844insC	ENST00000556509.1	-	7	681_682	c.682_683insG	c.(682-684)gatfs	p.D228fs	DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000546183.1_Frame_Shift_Ins_p.D238fs|DPF3_ENST00000541685.1_Frame_Shift_Ins_p.D228fs	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	228					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TTGAGCTTCATCCCCCTCCTCG	0.554																																						ENST00000541685.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22						c.(682-684)tgafs		D4, zinc and double PHD fingers, family 3																																				SO:0001589	frameshift_variant	8110				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding	g.chr14:73159843_73159844insC	U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.683dupG	14.37:g.73159848_73159848dupC	ENSP00000450518:p.Asp228fs		Somatic				DPF3_ENST00000546183.1_Frame_Shift_Ins_p.*238fs|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000556509.1_Frame_Shift_Ins_p.*228fs	p.*228fs	NM_012074.3	NP_036206.3	WXS	Illumina GAIIx	Phase_I	Q92784	DPF3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	7	694_695	-			228					A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Frame_Shift_Ins	INS	ENST00000556509.1	37	c.682_683insG																																																																																					0.554	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2			7	2139						7	2139	---	---	---	---
ZC3H14	79882	broad.mit.edu	37	14	89069237	89069238	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:89069237_89069238insC	ENST00000251038.5	+	12	1805_1806	c.1580_1581insC	c.(1579-1584)agccccfs	p.SP527fs	ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000555755.1_Frame_Shift_Ins_p.SP527fs|ZC3H14_ENST00000555900.1_Frame_Shift_Ins_p.SP229fs|ZC3H14_ENST00000318308.6_Intron|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000393514.5_Frame_Shift_Ins_p.SP502fs|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000336693.4_Intron	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	527						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GGTGTCCCCAGCCCCCCAGGAT	0.47																																						ENST00000251038.5																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						c.(1579-1581)accfs		zinc finger CCCH-type containing 14																																				SO:0001589	frameshift_variant	79882					cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89069237_89069238insC	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.1586dupC	14.37:g.89069243_89069243dupC	ENSP00000251038:p.Ser527fs		Somatic				ZC3H14_ENST00000318308.6_Intron|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000393514.5_Frame_Shift_Ins_p.T502fs|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000555755.1_Frame_Shift_Ins_p.T527fs|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000555900.1_Frame_Shift_Ins_p.T229fs	p.T527fs	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	WXS	Illumina GAIIx	Phase_I	Q6PJT7	ZC3HE_HUMAN			12	1805_1806	+			527					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Frame_Shift_Ins	INS	ENST00000251038.5	37	c.1580_1581insC	CCDS32133.1																																																																																				0.470	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		18	756						18	756	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105416915	105416927	+	Frame_Shift_Del	DEL	CCATGCTGGACAG	CCATGCTGGACAG	-	rs71421895|rs200852638|rs376710681|rs558588469|rs544174837	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:105416915_105416927delCCATGCTGGACAG	ENST00000333244.5	-	7	4980_4992	c.4861_4873delCTGTCCAGCATGG	c.(4861-4875)ctgtccagcatggagfs	p.LSSME1621fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1621						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACGTCCACCTCCATGCTGGACAGAGACATCTTC	0.606																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(4861-4875)agfs		AHNAK nucleoprotein 2																																				SO:0001589	frameshift_variant	113146					nucleus		g.chr14:105416915_105416927delCCATGCTGGACAG	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4861_4873delCTGTCCAGCATGG	14.37:g.105416915_105416927delCCATGCTGGACAG	ENSP00000353114:p.Leu1621fs		Somatic				AHNAK2_ENST00000557457.1_Intron	p.LSSME1621fs	NM_138420.2	NP_612429.2	WXS	Illumina GAIIx	Phase_I	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	4980_4992	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1621					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Frame_Shift_Del	DEL	ENST00000333244.5	37	c.4861_4873delCTGTCCAGCATGG	CCDS45177.1																																																																																				0.606	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		8	85						8	85	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105417410	105417422	+	Frame_Shift_Del	DEL	CCACGCTGGGCAG	CCACGCTGGGCAG	-	rs201507999|rs185696724|rs368623852	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr14:105417410_105417422delCCACGCTGGGCAG	ENST00000333244.5	-	7	4485_4497	c.4366_4378delCTGCCCAGCGTGG	c.(4366-4380)ctgcccagcgtggagfs	p.LPSVE1456fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1456						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACATCCACCTCCACGCTGGGCAGAGAAACCTCC	0.577																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(4366-4380)agfs		AHNAK nucleoprotein 2																																				SO:0001589	frameshift_variant	113146					nucleus		g.chr14:105417410_105417422delCCACGCTGGGCAG	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4366_4378delCTGCCCAGCGTGG	14.37:g.105417410_105417422delCCACGCTGGGCAG	ENSP00000353114:p.Leu1456fs		Somatic				AHNAK2_ENST00000557457.1_Intron	p.LPSVE1456fs	NM_138420.2	NP_612429.2	WXS	Illumina GAIIx	Phase_I	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	4485_4497	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1456					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Frame_Shift_Del	DEL	ENST00000333244.5	37	c.4366_4378delCTGCCCAGCGTGG	CCDS45177.1																																																																																				0.577	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		13	59						13	59	---	---	---	---
GANC	2595	broad.mit.edu	37	15	42614143	42614144	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:42614143_42614144insGA	ENST00000318010.8	+	11	1458_1459	c.1218_1219insGA	c.(1219-1221)tacfs	p.Y407fs		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	407					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	AGGGCAAGAGGTACTTCACCTG	0.465																																						ENST00000318010.8																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1216-1221)agacttfs		glucosidase, alpha; neutral C																																				SO:0001589	frameshift_variant	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42614143_42614144insGA	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	Exception_encountered	15.37:g.42614143_42614144insGA	ENSP00000326227:p.Tyr407fs		Somatic					p.L407fs	NM_198141.2	NP_937784.2	WXS	Illumina GAIIx	Phase_I	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	11	1458_1459	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	407					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Frame_Shift_Ins	INS	ENST00000318010.8	37	c.1218_1219insGA	CCDS10084.1																																																																																				0.465	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		20	147						20	147	---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62254983	62254984	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:62254983_62254984insA	ENST00000261517.5	-	33	3472_3473	c.3399_3400insT	c.(3397-3402)attgtcfs	p.V1134fs	VPS13C_ENST00000395898.3_Frame_Shift_Ins_p.V1091fs|VPS13C_ENST00000249837.3_Frame_Shift_Ins_p.V1091fs|VPS13C_ENST00000395896.4_Frame_Shift_Ins_p.V1134fs	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ACATCTGTGACAATAATATTTT	0.322																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(3397-3402)attcacfs		vacuolar protein sorting 13 homolog C (S. cerevisiae)																																				SO:0001589	frameshift_variant	54832				protein localization			g.chr15:62254983_62254984insA	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.3400dupT	15.37:g.62254985_62254985dupA	ENSP00000261517:p.Val1134fs		Somatic				VPS13C_ENST00000395898.3_Frame_Shift_Ins_p.H1091fs|VPS13C_ENST00000395896.4_Frame_Shift_Ins_p.H1134fs|VPS13C_ENST00000249837.3_Frame_Shift_Ins_p.H1091fs	p.H1134fs	NM_020821.2	NP_065872.1	WXS	Illumina GAIIx	Phase_I	Q709C8	VP13C_HUMAN			33	3472_3473	-			1134						Frame_Shift_Ins	INS	ENST00000261517.5	37	c.3399_3400insT	CCDS32257.1																																																																																				0.322	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		8	38						8	38	---	---	---	---
TLN2	83660	broad.mit.edu	37	15	63131164	63131165	+	Frame_Shift_Ins	INS	-	-	G	rs200809264		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:63131164_63131165insG	ENST00000561311.1	+	57	7714_7715	c.7484_7485insG	c.(7483-7488)gtggggfs	p.VG2495fs	RP11-1069G10.1_ENST00000558404.1_RNA|TLN2_ENST00000306829.6_Frame_Shift_Ins_p.VG2495fs			Q9Y4G6	TLN2_HUMAN	talin 2	2495	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACCAAGTTTGTGGGGGGCATTG	0.426																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(7483-7485)gggfs		talin 2																																				SO:0001589	frameshift_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63131164_63131165insG	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.7490dupG	15.37:g.63131170_63131170dupG	ENSP00000453508:p.Val2495fs		Somatic				TLN2_ENST00000306829.6_Frame_Shift_Ins_p.G2495fs|RP11-1069G10.1_ENST00000558404.1_RNA	p.G2495fs			WXS	Illumina GAIIx	Phase_I	Q9Y4G6	TLN2_HUMAN			57	7714_7715	+			2495			I/LWEQ.		A6NLB8	Frame_Shift_Ins	INS	ENST00000561311.1	37	c.7484_7485insG	CCDS32261.1																																																																																				0.426	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			7	141						7	141	---	---	---	---
ADCY9	115	broad.mit.edu	37	16	4016046	4016047	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:4016046_4016047delGA	ENST00000294016.3	-	11	4329_4330	c.3791_3792delTC	c.(3790-3792)gtcfs	p.V1264fs		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1264					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CATCCACCTGGACGCGGATGTC	0.569																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3790-3792)gfs		adenylate cyclase 9																																				SO:0001589	frameshift_variant	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4016046_4016047delGA	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3791_3792delTC	16.37:g.4016046_4016047delGA	ENSP00000294016:p.Val1264fs		Somatic					p.V1264fs	NM_001116.3	NP_001107.2	WXS	Illumina GAIIx	Phase_I	O60503	ADCY9_HUMAN			11	4329_4330	-			1264	QHQLSISPDIRVQVDGSIGRSPTDEIANLVPSVQYVDKTSL GSDSSTQAKDAHLSPKRPWKEPVKAEERGRFGKAIEKDDCD ETGIEEANELTKLNVSKSV -> APAVHLPRHPRPGGWQHR TVSHRRDCQPGAFCPVCGQDISGF (in Ref. 1; AAC24201).				A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Frame_Shift_Del	DEL	ENST00000294016.3	37	c.3791_3792delTC	CCDS32382.1																																																																																				0.569	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			8	99						8	99	---	---	---	---
RP11-420N3.2	0	broad.mit.edu	37	16	5550143	5550144	+	RNA	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:5550143_5550144insT	ENST00000569895.1	+	0	343																											ccctccttccctccttcccttc	0.584																																						ENST00000569895.1																			0																																																			0							g.chr16:5550143_5550144insT																													16.37:g.5550144_5550144dupT			Somatic								WXS	Illumina GAIIx	Phase_I					0	343	+									RNA	INS	ENST00000569895.1	37																																																																																						0.584	RP11-420N3.2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000435404.2			2	4						2	4	---	---	---	---
CTD-2014E2.5	0	broad.mit.edu	37	16	31576130	31576131	+	RNA	DEL	TC	TC	-	rs72374895|rs398058199|rs34385075	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:31576130_31576131delTC	ENST00000565692.1	-	0	343																											TGAAAGGTGATCTCTCTCTCTC	0.515														3584	0.715655	0.9448	0.4827	5008	,	,		20755	0.5327		0.6491	False		,,,				2504	0.8282					ENST00000565692.1																			0																																																			0							g.chr16:31576130_31576131delTC																													16.37:g.31576140_31576141delTC			Somatic								WXS	Illumina GAIIx	Phase_I					0	343	-									RNA	DEL	ENST00000565692.1	37																																																																																						0.515	CTD-2014E2.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432903.1			6	6						6	6	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72991948	72991949	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr16:72991948_72991949insC	ENST00000268489.5	-	2	2768_2769	c.2096_2097insG	c.(2095-2097)ggcfs	p.G699fs	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	699					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G699fs*125(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGACACAGGAGCCCCCCGGCTC	0.594																																						ENST00000268489.5																			1	Deletion - Frameshift(1)	p.G699fs*125(1)	lung(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(2095-2097)gtcfs		zinc finger homeobox 3																																				SO:0001589	frameshift_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991948_72991949insC	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2097dupG	16.37:g.72991954_72991954dupC	ENSP00000268489:p.Gly699fs		Somatic				ZFHX3_ENST00000397992.5_Intron	p.V699fs	NM_006885.3	NP_008816.3	WXS	Illumina GAIIx	Phase_I	Q15911	ZFHX3_HUMAN			2	2768_2769	-		Ovarian(137;0.13)	699					D3DWS8|O15101|Q13719	Frame_Shift_Ins	INS	ENST00000268489.5	37	c.2096_2097insG	CCDS10908.1																																																																																				0.594	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		8	609						8	609	---	---	---	---
MED11	400569	broad.mit.edu	37	17	4638739	4638740	+	IGR	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:4638739_4638740insG	ENST00000293777.5	+	0	833				CXCL16_ENST00000574412.1_Frame_Shift_Ins_p.P141fs|CXCL16_ENST00000576153.1_5'UTR|CXCL16_ENST00000293778.6_Frame_Shift_Ins_p.P141fs	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11							mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			lung(2)|ovary(2)	4						CCTGAGAAATTGGGGGGCTGGT	0.55																																						ENST00000293778.6																			0				large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(421-423)catfs		chemokine (C-X-C motif) ligand 16																																				SO:0001628	intergenic_variant	58191				lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity	g.chr17:4638739_4638740insG	AF161414	CCDS32533.1	17p13.2	2007-07-30	2007-07-30			ENSG00000161920			32687	protein-coding gene	gene with protein product		612383	"""mediator of RNA polymerase II transcription, subunit 11 homolog (S. cerevisiae)"""			15175163, 12584197	Standard	NM_001001683		Approved	HSPC296, MGC88387	uc002fyp.3	Q9P086			17.37:g.4638745_4638745dupG			Somatic				CXCL16_ENST00000574412.1_Frame_Shift_Ins_p.H141fs|CXCL16_ENST00000576153.1_5'UTR	p.H141fs	NM_022059.2	NP_071342.2	WXS	Illumina GAIIx	Phase_I	Q9H2A7	CXL16_HUMAN			4	844_845	-			122					Q6NS89	Frame_Shift_Ins	INS	ENST00000293777.5	37	c.422_423insC	CCDS32533.1																																																																																				0.550	MED11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439574.1	NM_001001683		8	590						8	590	---	---	---	---
FAM83G	644815	broad.mit.edu	37	17	18881020	18881021	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:18881020_18881021insTC	ENST00000388995.6	-	5	2181_2182	c.1958_1959insGA	c.(1957-1959)catfs	p.H653fs	SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Frame_Shift_Ins_p.H653fs|FAM83G_ENST00000585154.2_Frame_Shift_Ins_p.H653fs|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	653					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CTCGGGTTATATGGGGGGCACT	0.644																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(1957-1959)catfs		family with sequence similarity 83, member G																																				SO:0001589	frameshift_variant	644815							g.chr17:18881020_18881021insTC	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1958_1959insGA	17.37:g.18881020_18881021insTC	ENSP00000373647:p.His653fs		Somatic				SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Frame_Shift_Ins_p.H653fs|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Frame_Shift_Ins_p.H653fs	p.H653fs			WXS	Illumina GAIIx	Phase_I	A6ND36	FA83G_HUMAN			5	2181_2182	-			653					Q3KQZ4|Q6ZW60	Frame_Shift_Ins	INS	ENST00000388995.6	37	c.1958_1959insGA	CCDS42276.1																																																																																				0.644	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			7	5						7	5	---	---	---	---
CACNA1G	8913	broad.mit.edu	37	17	48683537	48683539	+	Intron	DEL	AAA	AAA	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:48683537_48683539delAAA	ENST00000359106.5	+	23	4422				CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000416767.4_In_Frame_Del_p.K1526del|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000502264.1_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000354983.4_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000507336.1_Intron|CACNA1G_ENST00000513689.2_Intron	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit						axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGCATGTCGCAAAGCCCAGTCCA	0.571																																						ENST00000416767.4																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(4573-4578)gcg>gc		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)																																			SO:0001627	intron_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48683537_48683539delAAA	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4422+153AAA>-	17.37:g.48683537_48683539delAAA			Somatic				CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000502264.1_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000359106.5_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000354983.4_Intron|CACNA1G_ENST00000507336.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000503485.1_Intron	p.AK1525del			WXS	Illumina GAIIx	Phase_I	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		23	4603_4605	+	Breast(11;6.7e-17)		0					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	In_Frame_Del	DEL	ENST00000359106.5	37	c.4575_4577delAAA	CCDS45730.1																																																																																				0.571	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		16	33						16	33	---	---	---	---
CSHL1	1444	broad.mit.edu	37	17	61987865	61987866	+	Frame_Shift_Ins	INS	-	-	CCCA			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:61987865_61987866insCCCA	ENST00000309894.5	-	3	219_220	c.220_221insTGGG	c.(220-222)tcafs	p.S74fs	CSHL1_ENST00000392824.4_Frame_Shift_Ins_p.H144fs|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000450719.3_5'UTR|CSHL1_ENST00000346606.6_5'UTR|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000259003.10_Intron	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	74						extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						ATGCAGGAATGAATACTTCTGT	0.505																																						ENST00000392824.4																			0				endometrium(3)|lung(6)	9						c.(427-432)atattcfs		chorionic somatomammotropin hormone-like 1																																				SO:0001589	frameshift_variant	1444					extracellular region	hormone activity|metal ion binding	g.chr17:61987865_61987866insCCCA	BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"""chorionic somatomammotropin CS-5"""	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.220_221insTGGG	17.37:g.61987865_61987866insCCCA	ENSP00000309524:p.Ser74fs		Somatic				CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000309894.5_Frame_Shift_Ins_p.I74fs|CSHL1_ENST00000346606.6_5'UTR|CSHL1_ENST00000450719.3_5'UTR|CSHL1_ENST00000558099.1_5'UTR	p.F144fs			WXS	Illumina GAIIx	Phase_I	Q14406	CSHL_HUMAN			2	490_491	-			0					D3DU26|D3DU27|Q0VDB2	Frame_Shift_Ins	INS	ENST00000309894.5	37	c.429_430insTGGG	CCDS11652.1																																																																																				0.505	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444557.1	NM_022579		145	157						145	157	---	---	---	---
UBE2O	63893	broad.mit.edu	37	17	74394437	74394440	+	Frame_Shift_Del	DEL	CACT	CACT	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:74394437_74394440delCACT	ENST00000319380.7	-	12	1985_1988	c.1921_1924delAGTG	c.(1921-1926)agtgttfs	p.SV641fs	UBE2O_ENST00000587581.1_5'UTR	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	641					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						ATGTCGTAAACACTCACATCTTCC	0.534											OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000319380.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1921-1926)ttfs		ubiquitin-conjugating enzyme E2O																																				SO:0001589	frameshift_variant	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74394437_74394440delCACT	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.1921_1924delAGTG	17.37:g.74394437_74394440delCACT	ENSP00000323687:p.Ser641fs		Somatic	OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1152	UBE2O_ENST00000587581.1_5'UTR	p.SV641fs	NM_022066.3	NP_071349.3	WXS	Illumina GAIIx	Phase_I	Q9C0C9	UBE2O_HUMAN			12	1985_1988	-			641					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Frame_Shift_Del	DEL	ENST00000319380.7	37	c.1921_1924delAGTG	CCDS32742.1																																																																																				0.534	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		7	290						7	290	---	---	---	---
NARF	26502	broad.mit.edu	37	17	80442736	80442738	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:80442736_80442738delGCT	ENST00000309794.11	+	9	1079_1081	c.881_883delGCT	c.(880-885)agctca>aca	p.294_295SS>T	NARF-IT1_ENST00000584012.1_RNA|NARF_ENST00000457415.3_In_Frame_Del_p.340_341SS>T|NARF_ENST00000390006.4_In_Frame_Del_p.235_236SS>T|NARF_ENST00000345415.7_In_Frame_Del_p.246_247SS>T	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	294						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GATGGAGCCAGCTCAGACGGGCA	0.537																																						ENST00000390006.4																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(703-708)aca>a		nuclear prelamin A recognition factor																																				SO:0001651	inframe_deletion	26502					lamin filament	lamin binding	g.chr17:80442736_80442738delGCT	BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 2"""	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.881_883delGCT	17.37:g.80442736_80442738delGCT	ENSP00000309899:p.Ser294_Ser295delinsThr		Somatic				NARF_ENST00000309794.10_In_Frame_Del_p.SS294del|NARF_ENST00000457415.3_In_Frame_Del_p.SS340del|NARF_ENST00000345415.7_In_Frame_Del_p.SS246del	p.SS235del	NM_001038618.2	NP_001033707.1	WXS	Illumina GAIIx	Phase_I	Q9UHQ1	NARF_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		9	1178_1180	+	Breast(20;0.00106)|all_neural(118;0.0804)		294					A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	In_Frame_Del	DEL	ENST00000309794.11	37	c.704_706delGCT	CCDS32777.1																																																																																				0.537	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443573.2	NM_031968		2215	155						2215	155	---	---	---	---
ZNF397	84307	broad.mit.edu	37	18	32823300	32823301	+	Intron	INS	-	-	AG			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr18:32823300_32823301insAG	ENST00000330501.7	+	3	709				ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000591206.1_Frame_Shift_Ins_p.L201fs|ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000585800.1_Frame_Shift_Ins_p.L201fs|ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000261333.6_Intron	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397						transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						ACACTTAGGCCTCTGTTTTTGA	0.436																																						ENST00000585800.1																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						c.(598-600)cctfs		zinc finger protein 397																																				SO:0001627	intron_variant	84307				viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32823300_32823301insAG	BC006172	CCDS32814.1, CCDS45852.1	18p12	2013-01-09	2003-07-22			ENSG00000186812		"""-"", ""Zinc fingers, C2H2-type"""	18818	protein-coding gene	gene with protein product		609601	"""zinc finger protein 47"""	ZNF47			Standard	NM_032347		Approved	ZSCAN15, MGC13250	uc010dmp.3	Q8NF99		ENST00000330501.7:c.556+43->AG	18.37:g.32823300_32823301insAG			Somatic				ZNF397_ENST00000261333.6_Intron|ZNF397_ENST00000330501.7_Intron|ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000591206.1_Frame_Shift_Ins_p.P200fs|ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000589420.1_Intron	p.P200fs			WXS	Illumina GAIIx	Phase_I	Q8NF99	ZN397_HUMAN			3	1313_1314	+			0					Q9BRM2	Frame_Shift_Ins	INS	ENST00000330501.7	37	c.599_600insAG	CCDS45852.1																																																																																				0.436	ZNF397-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442398.1	NM_032347		14	100						14	100	---	---	---	---
EPG5	57724	broad.mit.edu	37	18	43460063	43460064	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr18:43460063_43460064delCA	ENST00000282041.5	-	32	5677_5678	c.5643_5644delTG	c.(5641-5646)tctgatfs	p.D1882fs	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1882					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AAGAGAGCATCAGAAGAGCTGG	0.554											OREG0024951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000282041.5																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						c.(5641-5646)tcatfs		ectopic P-granules autophagy protein 5 homolog (C. elegans)																																				SO:0001589	frameshift_variant	57724				autophagy			g.chr18:43460063_43460064delCA	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.5643_5644delTG	18.37:g.43460063_43460064delCA	ENSP00000282041:p.Asp1882fs		Somatic	OREG0024951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	916	EPG5_ENST00000585906.1_5'UTR	p.SD1881fs	NM_020964.2	NP_066015.2	WXS	Illumina GAIIx	Phase_I	Q9HCE0	EPG5_HUMAN			32	5677_5678	-			1881					A2BDF3|Q9H8C8	Frame_Shift_Del	DEL	ENST00000282041.5	37	c.5643_5644delTG	CCDS11926.2																																																																																				0.554	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		12	77						12	77	---	---	---	---
ZNF554	115196	broad.mit.edu	37	19	2834106	2834107	+	Frame_Shift_Ins	INS	-	-	G	rs550718077|rs377231682	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:2834106_2834107insG	ENST00000317243.5	+	5	1071_1072	c.873_874insG	c.(874-876)gggfs	p.G292fs	ZNF554_ENST00000591265.1_3'UTR	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	292					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTATTCAACACGGGGGGAAGAT	0.455													GGGGGG|GGGGGG|GGGGGGG|insertion	3	0.000599042	0.0	0.0029	5008	,	,		20966	0.0		0.001	False		,,,				2504	0.0					ENST00000317243.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(871-876)caggggfs		zinc finger protein 554				0,3758		0,0,1879						-5.2	0.0			85	3,7931		0,3,3964	no	frameshift	ZNF554	NM_001102651.1		0,3,5843	A1A1,A1R,RR		0.0378,0.0,0.0257				3,11689				SO:0001589	frameshift_variant	115196				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2834106_2834107insG	AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"""Zinc fingers, C2H2-type"", ""-"""	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.879dupG	19.37:g.2834112_2834112dupG	ENSP00000321132:p.Gly292fs		Somatic				ZNF554_ENST00000591265.1_3'UTR	p.QG291fs	NM_001102651.1	NP_001096121.1	WXS	Illumina GAIIx	Phase_I	Q86TJ5	ZN554_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1071_1072	+		Hepatocellular(1079;0.137)	291					Q8NAT3|Q9BWN3	Frame_Shift_Ins	INS	ENST00000317243.5	37	c.873_874insG	CCDS42462.1																																																																																				0.455	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303		8	307						8	307	---	---	---	---
AKAP8	10270	broad.mit.edu	37	19	15484753	15484754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:15484753_15484754insC	ENST00000269701.2	-	4	274_275	c.214_215insG	c.(214-216)gccfs	p.A72fs		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	72					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CATGGCAGGGGCCCCGGCCGCC	0.634																																					GBM(190;1671 2163 3274 27186 30476)	ENST00000269701.2																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						c.(214-216)cccfs		A kinase (PRKA) anchor protein 8																																				SO:0001589	frameshift_variant	10270				signal transduction	nuclear matrix		g.chr19:15484753_15484754insC	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.215dupG	19.37:g.15484757_15484757dupC	ENSP00000269701:p.Ala72fs		Somatic					p.P72fs	NM_005858.3	NP_005849.1	WXS	Illumina GAIIx	Phase_I	O43823	AKAP8_HUMAN			4	274_275	-			72						Frame_Shift_Ins	INS	ENST00000269701.2	37	c.214_215insG	CCDS12329.1																																																																																				0.634	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		9	159						9	159	---	---	---	---
ARHGAP33	115703	broad.mit.edu	37	19	36268609	36268610	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:36268609_36268610insG	ENST00000007510.4	+	2	213_214	c.69_70insG	c.(70-72)gggfs	p.G24fs	ARHGAP33_ENST00000221905.1_3'UTR|ARHGAP33_ENST00000314737.5_Frame_Shift_Ins_p.G24fs|ARHGAP33_ENST00000378944.5_Intron			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	24					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TACCCACTGCTGGGGGGCCCAG	0.639																																						ENST00000007510.4																			0				endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(67-72)gcggggfs		Rho GTPase activating protein 33																																				SO:0001589	frameshift_variant	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36268609_36268610insG	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.75dupG	19.37:g.36268615_36268615dupG	ENSP00000007510:p.Gly24fs		Somatic				ARHGAP33_ENST00000221905.1_3'UTR|ARHGAP33_ENST00000314737.5_Frame_Shift_Ins_p.AG23fs|ARHGAP33_ENST00000378944.5_Intron	p.AG23fs			WXS	Illumina GAIIx	Phase_I	O14559	RHG33_HUMAN			2	213_214	+			23					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Frame_Shift_Ins	INS	ENST00000007510.4	37	c.69_70insG																																																																																					0.639	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		8	429						8	429	---	---	---	---
ZNF780B	163131	broad.mit.edu	37	19	40540780	40540781	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:40540780_40540781insAT	ENST00000434248.1	-	5	2050_2051	c.1985_1986insAT	c.(1984-1986)attfs	p.I662fs	ZNF780B_ENST00000221355.6_Frame_Shift_Ins_p.I514fs	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	662					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)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CACCAGCATGAATACTCTGATG	0.386																																						ENST00000434248.1																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(1984-1986)acafs		zinc finger protein 780B																																				SO:0001589	frameshift_variant	163131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40540780_40540781insAT	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.1984_1985dupAT	19.37:g.40540781_40540782dupAT	ENSP00000391641:p.Ile662fs		Somatic				ZNF780B_ENST00000221355.6_Frame_Shift_Ins_p.T514fs	p.T662fs	NM_001005851.2	NP_001005851.1	WXS	Illumina GAIIx	Phase_I	Q9Y6R6	Z780B_HUMAN			5	2050_2051	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		662					B9EH00	Frame_Shift_Ins	INS	ENST00000434248.1	37	c.1985_1986insAT	CCDS46077.1																																																																																				0.386	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851		10	512						10	512	---	---	---	---
SHKBP1	92799	broad.mit.edu	37	19	41086321	41086322	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:41086321_41086322insC	ENST00000291842.5	+	7	541_542	c.492_493insC	c.(493-495)cccfs	p.P165fs	SHKBP1_ENST00000600733.1_Frame_Shift_Ins_p.P165fs	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	165					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCAACACGATGCCCCCCAACCT	0.619																																						ENST00000291842.5																			0				breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29						c.(490-495)atccccfs		SH3KBP1 binding protein 1																																				SO:0001589	frameshift_variant	92799					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:41086321_41086322insC	AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.498dupC	19.37:g.41086327_41086327dupC	ENSP00000291842:p.Pro165fs		Somatic				SHKBP1_ENST00000600733.1_Frame_Shift_Ins_p.IP164fs	p.IP164fs	NM_138392.3	NP_612401.2	WXS	Illumina GAIIx	Phase_I	Q8TBC3	SHKB1_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	541_542	+			164					Q8N2I6|Q8WY93|Q96IB8	Frame_Shift_Ins	INS	ENST00000291842.5	37	c.492_493insC	CCDS12560.1																																																																																				0.619	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462613.2	NM_138392		7	258						7	258	---	---	---	---
ZNF432	9668	broad.mit.edu	37	19	52538164	52538165	+	Frame_Shift_Ins	INS	-	-	ACAA			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:52538164_52538165insACAA	ENST00000594154.1	-	5	979_980	c.767_768insTTGT	c.(766-768)aaafs	p.K256fs	ZNF432_ENST00000221315.5_Frame_Shift_Ins_p.K256fs			O94892	ZN432_HUMAN	zinc finger protein 432	256					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(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		ATTTCTCTCTTTTATGAATTCT	0.381																																						ENST00000594154.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29						c.(766-768)aagfs		zinc finger protein 432																																				SO:0001589	frameshift_variant	9668				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52538164_52538165insACAA	AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.767_768insTTGT	19.37:g.52538164_52538165insACAA	ENSP00000470488:p.Lys256fs		Somatic				ZNF432_ENST00000221315.5_Frame_Shift_Ins_p.K256fs	p.K256fs			WXS	Illumina GAIIx	Phase_I	O94892	ZN432_HUMAN		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)	5	979_980	-		all_neural(266;0.117)	256						Frame_Shift_Ins	INS	ENST00000594154.1	37	c.767_768insTTGT	CCDS12848.1																																																																																				0.381	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650		18	140						18	140	---	---	---	---
ZNF600	162966	broad.mit.edu	37	19	53270328	53270329	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr19:53270328_53270329insT	ENST00000338230.3	-	3	947_948	c.680_681insA	c.(679-681)ttcfs	p.F227fs		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	227					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)		ATACCTGACTGAAGGACTTTCC	0.421																																					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.(679-681)tagfs		zinc finger protein 600																																				SO:0001589	frameshift_variant	162966				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53270328_53270329insT	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.680_681insA	19.37:g.53270328_53270329insT	ENSP00000344791:p.Phe227fs		Somatic					p.*227fs	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	947_948	-			227					Q6MZR0	Frame_Shift_Ins	INS	ENST00000338230.3	37	c.680_681insA	CCDS12856.1																																																																																				0.421	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		8	683						8	683	---	---	---	---
PDYN	5173	broad.mit.edu	37	20	1963714	1963715	+	In_Frame_Ins	INS	-	-	AAC			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:1963714_1963715insAAC	ENST00000217305.2	-	3	241_242	c.16_17insGTT	c.(16-18)ctg>cGTTtg	p.5_6insR	PDYN_ENST00000539905.1_In_Frame_Ins_p.5_6insR|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_In_Frame_Ins_p.5_6insR	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	5					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGCCAGGACCAGCCCCTGCCAG	0.564																																						ENST00000217305.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(16-18)ggt>GTTggt		prodynorphin																																				SO:0001652	inframe_insertion	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1963714_1963715insAAC		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.16_17insGTT	20.37:g.1963714_1963715insAAC	ENSP00000217305:p.Gly5_Leu6insArg		Somatic				RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_In_Frame_Ins_p.5_6insV|PDYN_ENST00000539905.1_In_Frame_Ins_p.5_6insV	p.5_6insV	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	WXS	Illumina GAIIx	Phase_I	P01213	PDYN_HUMAN			3	241_242	-			5					A8K0Q3	In_Frame_Ins	INS	ENST00000217305.2	37	c.16_17insGTT	CCDS13023.1																																																																																				0.564	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			194	104						194	104	---	---	---	---
JAG1	182	broad.mit.edu	37	20	10620352	10620353	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:10620352_10620353insC	ENST00000254958.5	-	26	3965_3966	c.3450_3451insG	c.(3448-3453)aggacafs	p.T1151fs	JAG1_ENST00000423891.2_Frame_Shift_Ins_p.T992fs	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1151					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GAATTGTGTGTCCTTATTTTAG	0.475									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(3448-3453)agcacafs		jagged 1																																				SO:0001589	frameshift_variant	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10620352_10620353insC	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.3451dupG	20.37:g.10620354_10620354dupC	ENSP00000254958:p.Thr1151fs		Somatic				JAG1_ENST00000423891.2_Frame_Shift_Ins_p.ST991fs	p.ST1150fs	NM_000214.2	NP_000205.1	WXS	Illumina GAIIx	Phase_I	P78504	JAG1_HUMAN			26	3965_3966	-			1150					A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Frame_Shift_Ins	INS	ENST00000254958.5	37	c.3450_3451insG	CCDS13112.1																																																																																				0.475	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		8	97						8	97	---	---	---	---
ARFGEF2	10564	broad.mit.edu	37	20	47587789	47587790	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr20:47587789_47587790insA	ENST00000371917.4	+	10	1323_1324	c.1323_1324insA	c.(1324-1326)aaafs	p.K442fs		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	442					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TGGCCTTGTCCAAAAACGGCGT	0.436																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(1321-1326)tcaaaafs		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)																																				SO:0001589	frameshift_variant	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47587789_47587790insA	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1328dupA	20.37:g.47587794_47587794dupA	ENSP00000360985:p.Lys442fs		Somatic					p.SK441fs	NM_006420.2	NP_006411.2	WXS	Illumina GAIIx	Phase_I	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		10	1323_1324	+			441					Q5TFT9|Q9NTS1	Frame_Shift_Ins	INS	ENST00000371917.4	37	c.1323_1324insA	CCDS13411.1																																																																																				0.436	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		8	1538						8	1538	---	---	---	---
ETS2	2114	broad.mit.edu	37	21	40184981	40184981	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr21:40184981delC	ENST00000360214.3	+	4	587	c.127delC	c.(127-129)ctafs	p.L43fs	ETS2_ENST00000360938.3_Frame_Shift_Del_p.L43fs	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	43					cell differentiation (GO:0030154)|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, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TTTTCCTTCTCTAAATGAAGA	0.403																																						ENST00000360214.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(127-129)tafs		v-ets avian erythroblastosis virus E26 oncogene homolog 2							140.0	142.0	141.0					21																	40184981		2203	4300	6503	SO:0001589	frameshift_variant	2114				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:40184981delC		CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"""v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"""			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.127delC	21.37:g.40184981delC	ENSP00000353344:p.Leu43fs		Somatic				ETS2_ENST00000360938.3_Frame_Shift_Del_p.L43fs	p.L43fs	NM_001256295.1	NP_001243224.1	WXS	Illumina GAIIx	Phase_I	P15036	ETS2_HUMAN			4	587	+		Prostate(19;6.33e-08)|all_epithelial(19;0.123)	43					A6NM68|D3DSH6|Q53Y89	Frame_Shift_Del	DEL	ENST00000360214.3	37	c.127delC	CCDS13659.1																																																																																				0.403	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1			9	509						9	509	---	---	---	---
DRICH1	51233	broad.mit.edu	37	22	23974047	23974048	+	In_Frame_Ins	INS	-	-	CAG			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr22:23974047_23974048insCAG	ENST00000317749.5	-	1	460_461	c.163_164insCTG	c.(163-165)gag>gCTGag	p.54_55insA	KB-1572G7.3_ENST00000390329.3_RNA	NM_016449.3	NP_057533.2	Q6PGQ1	DRIC1_HUMAN		54										endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						GTCTTGGCCCTCCGTGGCTCCC	0.54																																						ENST00000317749.5																			0				endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						c.(163-165)ggg>CTGggg		chromosome 22 open reading frame 43																																				SO:0001652	inframe_insertion	51233							g.chr22:23974047_23974048insCAG																												ENST00000317749.5:c.163_164insCTG	22.37:g.23974047_23974048insCAG	ENSP00000316137:p.Thr54_Glu55insAla		Somatic				C22orf43_ENST00000460169.1_5'UTR	p.54_55insL	NM_016449.3	NP_057533.2	WXS	Illumina GAIIx	Phase_I	Q6PGQ1	CV043_HUMAN			1	460_461	-			54					Q6ICJ8|Q6P4I3|Q9NU31	In_Frame_Ins	INS	ENST00000317749.5	37	c.163_164insCTG	CCDS42985.1																																																																																				0.540	C22orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319708.2			10	208						10	208	---	---	---	---
CRYBA4	1413	broad.mit.edu	37	22	27021497	27021498	+	Frame_Shift_Ins	INS	-	-	A	rs199635152	byFrequency	TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr22:27021497_27021498insA	ENST00000354760.3	+	4	246_247	c.211_212insA	c.(211-213)cgafs	p.R71fs	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	71	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)	p.R71*(1)		large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						CATTCTGGAACGAGGCGAATAT	0.624																																						ENST00000354760.3																			1	Substitution - Nonsense(1)	p.R71*(1)	large_intestine(1)	large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						c.(211-213)aggfs		crystallin, beta A4																																				SO:0001589	frameshift_variant	1413				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	g.chr22:27021497_27021498insA		CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	Exception_encountered	22.37:g.27021497_27021498insA	ENSP00000346805:p.Arg71fs		Somatic				CRYBA4_ENST00000466315.1_3'UTR	p.R71fs	NM_001886.2	NP_001877.1	WXS	Illumina GAIIx	Phase_I	P53673	CRBA4_HUMAN			4	246_247	+			71			Beta/gamma crystallin 'Greek key' 2.		Q4VB22|Q6ICE4	Frame_Shift_Ins	INS	ENST00000354760.3	37	c.211_212insA	CCDS13841.1																																																																																				0.624	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320793.1	NM_001886		139	343						139	343	---	---	---	---
SLC35E4	339665	broad.mit.edu	37	22	31032723	31032724	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr22:31032723_31032724insG	ENST00000343605.4	+	1	1085_1086	c.286_287insG	c.(286-288)cggfs	p.R96fs	SLC35E4_ENST00000300385.8_Frame_Shift_Ins_p.R96fs|SLC35E4_ENST00000406566.1_Frame_Shift_Ins_p.R96fs	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	96						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GGCATGCCACCGGGGGGCACGG	0.663																																						ENST00000343605.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						c.(286-288)gggfs		solute carrier family 35, member E4																																				SO:0001589	frameshift_variant	339665					integral to membrane		g.chr22:31032723_31032724insG		CCDS13882.1	22q12.2	2013-05-22			ENSG00000100036	ENSG00000100036		"""Solute carriers"""	17058	protein-coding gene	gene with protein product							Standard	NM_001001479		Approved		uc003ais.1	Q6ICL7	OTTHUMG00000151110	ENST00000343605.4:c.292dupG	22.37:g.31032729_31032729dupG	ENSP00000339626:p.Arg96fs		Somatic				SLC35E4_ENST00000406566.1_Frame_Shift_Ins_p.G96fs|SLC35E4_ENST00000300385.8_Frame_Shift_Ins_p.G96fs	p.G96fs	NM_001001479.2	NP_001001479.1	WXS	Illumina GAIIx	Phase_I	Q6ICL7	S35E4_HUMAN			1	1085_1086	+			96					Q567P0	Frame_Shift_Ins	INS	ENST00000343605.4	37	c.286_287insG	CCDS13882.1																																																																																				0.663	SLC35E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321382.1	XM_290973		9	279						9	279	---	---	---	---
PKDREJ	10343	broad.mit.edu	37	22	46655571	46655572	+	Frame_Shift_Ins	INS	-	-	C	rs530773920		TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr22:46655571_46655572insC	ENST00000253255.5	-	1	3647_3648	c.3648_3649insG	c.(3646-3651)gggcatfs	p.H1217fs		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1217					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ACTATCACATGCCCCCGAAGAT	0.45																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(3646-3651)ggatgtfs		polycystin (PKD) family receptor for egg jelly																																				SO:0001589	frameshift_variant	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46655571_46655572insC	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.3649dupG	22.37:g.46655576_46655576dupC	ENSP00000253255:p.His1217fs		Somatic					p.C1217fs	NM_006071.1	NP_006062.1	WXS	Illumina GAIIx	Phase_I	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	3647_3648	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1217					B1AJY3|O95850	Frame_Shift_Ins	INS	ENST00000253255.5	37	c.3648_3649insG	CCDS14073.1																																																																																				0.450	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		8	1711						8	1711	---	---	---	---
ARSF	416	broad.mit.edu	37	X	3007554	3007555	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:3007554_3007555insC	ENST00000381127.1	+	7	1069_1070	c.848_849insC	c.(847-852)ttccttfs	p.L284fs	ARSF_ENST00000537104.1_Frame_Shift_Ins_p.L284fs|ARSF_ENST00000359361.2_Frame_Shift_Ins_p.L284fs	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	284					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AAGGAAACTTTCCTTCTCTTTT	0.426																																						ENST00000381127.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38						c.(847-849)tctfs		arylsulfatase F																																				SO:0001589	frameshift_variant	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3007554_3007555insC	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.850dupC	X.37:g.3007556_3007556dupC	ENSP00000370519:p.Leu284fs		Somatic				ARSF_ENST00000359361.2_Frame_Shift_Ins_p.S283fs|ARSF_ENST00000537104.1_Frame_Shift_Ins_p.S283fs	p.S283fs	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	WXS	Illumina GAIIx	Phase_I	P54793	ARSF_HUMAN			7	1069_1070	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	283					Q8TCC5	Frame_Shift_Ins	INS	ENST00000381127.1	37	c.848_849insC	CCDS14123.1																																																																																				0.426	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			80	1551						80	1551	---	---	---	---
USP11	8237	broad.mit.edu	37	X	47099225	47099227	+	In_Frame_Del	DEL	TAC	TAC	-			TCGA-A3-3374-01A-01W-0886-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73ed0e48-a9fb-4d0c-8f0d-8e39d0753512	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chrX:47099225_47099227delTAC	ENST00000218348.3	+	4	583_585	c.583_585delTAC	c.(583-585)tacdel	p.Y195del	USP11_ENST00000377107.2_In_Frame_Del_p.Y152del	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	195					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GGTCGAAGTGTACCCAGTAGAAC	0.502																																						ENST00000377107.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						c.(454-456)del		ubiquitin specific peptidase 11																																				SO:0001651	inframe_deletion	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47099225_47099227delTAC	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.583_585delTAC	X.37:g.47099225_47099227delTAC	ENSP00000218348:p.Tyr195del		Somatic				USP11_ENST00000218348.3_In_Frame_Del_p.Y195del	p.Y152del			WXS	Illumina GAIIx	Phase_I	P51784	UBP11_HUMAN			4	808_810	+			195			DUSP.		B2RTX1|Q8IUG6|Q9BWE1	In_Frame_Del	DEL	ENST00000218348.3	37	c.454_456delTAC	CCDS14277.1																																																																																				0.502	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		16	420						16	420	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116645	121116645	+	lincRNA	DEL	T	T	-	rs377003181		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr1:121116645delT	ENST00000437515.1	-	0	329					NR_104189.1																						CAAGCCCCCCTTTAAAAAAAA	0.393																																						ENST00000437515.1																			0																																																			100873165							g.chr1:121116645delT																													1.37:g.121116645delT			Somatic								WXS	Illumina GAIIx	Phase_I					0	329	-									RNA	DEL	ENST00000437515.1	37																																																																																						0.393	RP11-343N15.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098477.2			7	69						7	69	---	---	---	---
RNF123	63891	broad.mit.edu	37	3	49725275	49725279	+	5'Flank	DEL	GTGCT	GTGCT	-	rs370878670		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:49725275_49725279delGTGCT	ENST00000327697.6	+	0	0				AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000383728.3_Intron|MST1_ENST00000494828.2_Intron|RNF123_ENST00000432042.1_5'Flank|MST1_ENST00000545762.1_Frame_Shift_Del_p.QH35fs|MST1_ENST00000449682.2_Frame_Shift_Del_p.QH49fs	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CATGTAGCAGGTGCTGTAGCTCTGT	0.61																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(145-150)cfs		macrophage stimulating 1 (hepatocyte growth factor-like)																																				SO:0001631	upstream_gene_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49725275_49725279delGTGCT	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49725275_49725279delGTGCT	Exception_encountered		Somatic				MST1_ENST00000383728.3_Intron|MST1_ENST00000545762.1_Frame_Shift_Del_p.QH35fs|MST1_ENST00000494828.2_Intron	p.QH49fs	NM_020998.3	NP_066278.3	WXS	Illumina GAIIx	Phase_I	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	507_511	-			35			PAN.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Frame_Shift_Del	DEL	ENST00000327697.6	37	c.146_150delAGCAC	CCDS33758.1																																																																																				0.610	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		8	93						8	93	---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121238716	121238723	+	Splice_Site	DEL	ACCTACTG	ACCTACTG	-	rs375226226|rs544117810	byFrequency	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:121238716_121238723delACCTACTG	ENST00000264233.5	-	9	1591_1597	c.1463_1469delCAGTAGGT	c.(1462-1470)acagtaggt>at	p.TVG488fs	POLQ_ENST00000488282.1_5'Flank	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	488	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAACTCACTTACCTACTGTGTCCACTCC	0.428								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.e9+1	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta																																				SO:0001630	splice_region_variant	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121238716_121238723delACCTACTG	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.1468+1CAGTAGGT>-	3.37:g.121238716_121238723delACCTACTG			Somatic					p.488_splice	NM_199420.3	NP_955452.3	WXS	Illumina GAIIx	Phase_I	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	9	1591_1597	-			488			Helicase C-terminal.		O95160|Q6VMB5	Splice_Site	DEL	ENST00000264233.5	37	c.1468_splice	CCDS33833.1																																																																																				0.428	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420	Frame_Shift_Del	21	499						21	499	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	lincRNA	INS	-	-	T	rs55992531|rs397933710		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454									long intergenic non-protein coding RNA 969																		AGTCttttttctttttttttga	0.525																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400918_195400919insT	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400927_195400927dupT			Somatic								WXS	Illumina GAIIx	Phase_I					0	1454	+									RNA	INS	ENST00000445430.1	37																																																																																						0.525	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			8	40						8	40	---	---	---	---
SDHAP1	255812	broad.mit.edu	37	3	195713385	195713386	+	RNA	INS	-	-	T	rs199843390		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr3:195713385_195713386insT	ENST00000427841.1	-	0	176					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AAAGCATGAACTTACGGAATCT	0.401																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			255812							g.chr3:195713385_195713386insT	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195713387_195713387dupT			Somatic						NR_003264.2		WXS	Illumina GAIIx	Phase_I					0	176	-									RNA	INS	ENST00000427841.1	37																																																																																						0.401	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			12	30						12	30	---	---	---	---
CLOCK	9575	broad.mit.edu	37	4	56336954	56336954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr4:56336954delA	ENST00000309964.4	-	7	618	c.368delT	c.(367-369)ttafs	p.L123fs	CLOCK_ENST00000381322.1_Frame_Shift_Del_p.L123fs|CLOCK_ENST00000513440.1_Frame_Shift_Del_p.L123fs	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	123	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.L123fs*1(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CATGATTGCTAAAAAAAAACC	0.289																																						ENST00000309964.4																			2	Deletion - Frameshift(2)	p.L123fs*1(2)	ovary(1)|lung(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(367-369)tafs		clock circadian regulator							88.0	93.0	92.0					4																	56336954		2201	4298	6499	SO:0001589	frameshift_variant	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56336954delA	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.368delT	4.37:g.56336954delA	ENSP00000308741:p.Leu123fs		Somatic				CLOCK_ENST00000381322.1_Frame_Shift_Del_p.L123fs|CLOCK_ENST00000513440.1_Frame_Shift_Del_p.L123fs	p.L123fs	NM_004898.3	NP_004889.1	WXS	Illumina GAIIx	Phase_I	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		7	618	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		123			PAS 1.		A0AV01|A2I2N9|O14516|Q9UIT8	Frame_Shift_Del	DEL	ENST00000309964.4	37	c.368delT	CCDS3500.1																																																																																				0.289	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		8	363						8	363	---	---	---	---
FLT4	2324	broad.mit.edu	37	5	180058747	180058748	+	Frame_Shift_Ins	INS	-	-	G	rs201069563		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr5:180058747_180058748insG	ENST00000261937.6	-	2	167_168	c.89_90insC	c.(88-90)ccgfs	p.P30fs	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Frame_Shift_Ins_p.P30fs|FLT4_ENST00000393347.3_Frame_Shift_Ins_p.P30fs	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	30	Ig-like C2-type 1.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.P30fs*3(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGTTCAAGGTCGGGGGGGTCAT	0.634																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			2	Deletion - Frameshift(2)	p.P30fs*3(2)	large_intestine(2)	NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(88-90)cacfs		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)																																			SO:0001589	frameshift_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180058747_180058748insG	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.90dupC	5.37:g.180058754_180058754dupG	ENSP00000261937:p.Pro30fs		Somatic				FLT4_ENST00000502649.1_Frame_Shift_Ins_p.H30fs|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Frame_Shift_Ins_p.H30fs	p.H30fs	NM_182925.4	NP_891555.2	WXS	Illumina GAIIx	Phase_I	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	2	167_168	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	30			Ig-like C2-type 1.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Frame_Shift_Ins	INS	ENST00000261937.6	37	c.89_90insC	CCDS4457.1																																																																																				0.634	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			8	91						8	91	---	---	---	---
HLA-V	352962	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs60681449|rs2905755|rs140982245	byFrequency	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243									major histocompatibility complex, class I, V (pseudogene)																		GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674																																						ENST00000457107.1																			0																																																			352962							g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29760353_29760373delGCGGGCGCCGTGGATGGAGCA			Somatic								WXS	Illumina GAIIx	Phase_I					0	223_243	+									RNA	DEL	ENST00000457107.1	37																																																																																						0.674	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		2	4						2	4	---	---	---	---
PNPLA8	50640	broad.mit.edu	37	7	108155503	108155504	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr7:108155503_108155504insC	ENST00000422087.1	-	4	838_839	c.432_433insG	c.(430-435)tggttafs	p.L145fs	PNPLA8_ENST00000436062.1_Frame_Shift_Ins_p.L145fs|PNPLA8_ENST00000388728.5_Frame_Shift_Ins_p.L145fs|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000453144.1_Frame_Shift_Ins_p.L45fs|PNPLA8_ENST00000426128.2_Frame_Shift_Ins_p.L145fs|PNPLA8_ENST00000257694.8_Frame_Shift_Ins_p.L145fs	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	145					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TTCTGTTTTAACCAGCCACTAT	0.327																																						ENST00000426128.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						c.(430-435)tgtaaafs		patatin-like phospholipase domain containing 8																																				SO:0001589	frameshift_variant	50640				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	g.chr7:108155503_108155504insC	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.433dupG	7.37:g.108155505_108155505dupC	ENSP00000410804:p.Leu145fs		Somatic				PNPLA8_ENST00000388728.5_Frame_Shift_Ins_p.CK144fs|PNPLA8_ENST00000436062.1_Frame_Shift_Ins_p.CK144fs|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000453144.1_Frame_Shift_Ins_p.CK44fs|PNPLA8_ENST00000257694.8_Frame_Shift_Ins_p.CK144fs|PNPLA8_ENST00000422087.1_Frame_Shift_Ins_p.CK144fs	p.CK144fs	NM_001256009.1	NP_001242938.1	WXS	Illumina GAIIx	Phase_I	Q9NP80	PLPL8_HUMAN			2	557_558	-			144					A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Frame_Shift_Ins	INS	ENST00000422087.1	37	c.432_433insG	CCDS34733.1																																																																																				0.327	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		8	224						8	224	---	---	---	---
TFAM	7019	broad.mit.edu	37	10	60148570	60148570	+	Frame_Shift_Del	DEL	A	A	-	rs544132101|rs78912196		TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:60148570delA	ENST00000487519.1	+	4	958	c.432delA	c.(430-432)acafs	p.T144fs	TFAM_ENST00000373899.3_3'UTR|TFAM_ENST00000373895.3_Frame_Shift_Del_p.T144fs	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	144					DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAGCTATGACAAAAAAAAAAG	0.269																																						ENST00000487519.1																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(430-432)acfs		transcription factor A, mitochondrial							39.0	47.0	44.0					10																	60148570		2195	4296	6491	SO:0001589	frameshift_variant	7019				DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr10:60148570delA	BC018628	CCDS7253.1, CCDS59217.1	10q21	2010-09-24			ENSG00000108064	ENSG00000108064			11741	protein-coding gene	gene with protein product		600438		TCF6, TCF6L2		7789991	Standard	NM_003201		Approved		uc001jkf.4	Q00059	OTTHUMG00000018270	ENST00000487519.1:c.432delA	10.37:g.60148570delA	ENSP00000420588:p.Thr144fs		Somatic				TFAM_ENST00000373899.3_3'UTR|TFAM_ENST00000373895.3_Frame_Shift_Del_p.T144fs	p.T144fs	NM_003201.1	NP_003192.1	WXS	Illumina GAIIx	Phase_I	Q00059	TFAM_HUMAN			4	958	+			144					A8MRB2|A9QXC6|B5BU05|Q5U0C6	Frame_Shift_Del	DEL	ENST00000487519.1	37	c.432delA	CCDS7253.1																																																																																				0.269	TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048146.1	NM_003201		7	135						7	135	---	---	---	---
SCD	6319	broad.mit.edu	37	10	102104588	102104589	+	5'Flank	INS	-	-	A	rs143779882	byFrequency	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr10:102104588_102104589insA	ENST00000370355.2	+	0	0				RP11-34D15.2_ENST00000429420.1_RNA	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)						fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		AACAAAATAATAAAAAATCACA	0.386													?|AAAAAA|AAAAAAA|unsure	113	0.0225639	0.0802	0.0072	5008	,	,		16643	0.0		0.002	False		,,,				2504	0.0				Colon(67;260 1459 9574 11663)	ENST00000429420.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr10:102104588_102104589insA	AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"""Fatty acid desaturases"""	10571	protein-coding gene	gene with protein product	"""acyl-CoA desaturase"", ""fatty acid desaturase"", ""delta-9-desaturase"""	604031	"""stearoyl-CoA desaturase opposite strand"""	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906		10.37:g.102104594_102104594dupA	Exception_encountered		Somatic								WXS	Illumina GAIIx	Phase_I					0	103	-								B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	RNA	INS	ENST00000370355.2	37		CCDS7493.1																																																																																				0.386	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049857.2	NM_005063		6	6						6	6	---	---	---	---
TSSC2	650368	broad.mit.edu	37	11	3424761	3424761	+	RNA	DEL	A	A	-			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:3424761delA	ENST00000529482.1	+	0	845									tumor suppressing subtransferable candidate 2 pseudogene																		gtctgtcaggaaaaaaaaaaa	0.413																																						ENST00000529482.1																			0																																																			650368							g.chr11:3424761delA			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3424761delA			Somatic								WXS	Illumina GAIIx	Phase_I					0	845	+									RNA	DEL	ENST00000529482.1	37																																																																																						0.413	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			9	36						9	36	---	---	---	---
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	TGG	-	rs2234451	byFrequency	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:5529918_5529920delTGG	ENST00000311659.4	-	2	1016_1018	c.869_871delCCA	c.(868-873)accagc>agc	p.T290del	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	290			T -> S (in dbSNP:rs2234451).							NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGTTGGCTGGTGGTGGTGGT	0.537																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(868-873)agc>a		ubiquilin 3																																				SO:0001651	inframe_deletion	50613							g.chr11:5529918_5529920delTGG	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.869_871delCCA	11.37:g.5529927_5529929delTGG	ENSP00000347997:p.Thr290del		Somatic				HBG2_ENST00000380259.2_Intron	p.TS290del	NM_017481.2	NP_059509.1	WXS	Illumina GAIIx	Phase_I	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1016_1018	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	290		T -> S (in dbSNP:rs2234451).			Q9NRE0	In_Frame_Del	DEL	ENST00000311659.4	37	c.869_871delCCA	CCDS7758.1																																																																																				0.537	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		7	350						7	350	---	---	---	---
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754|rs542581403|rs199786165	byFrequency	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cctcctaca>cca	p.PT470del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	470	Poly-Pro.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573																																						ENST00000256186.2																			2	Deletion - In frame(2)	p.T471delT(2)	upper_aerodigestive_tract(1)|skin(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1405-1413)cca>c		MICAL C-terminal like				494,2594		71,352,1121						-0.7	0.0		dbSNP_107	5	1955,4965		272,1411,1777	no	coding	MICALCL	NM_032867.2		343,1763,2898	A1A1,A1R,RR		28.2514,15.9974,24.4704				2449,7559				SO:0001651	inframe_deletion	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12316384_12316389delCTCCTA	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1406_1411delCTCCTA	11.37:g.12316384_12316389delCTCCTA	ENSP00000256186:p.Pro470_Thr471del		Somatic					p.PPT469del	NM_032867.2	NP_116256.2	WXS	Illumina GAIIx	Phase_I	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	1697_1702	+			469			Poly-Pro.		Q7RTP7|Q96JU6	In_Frame_Del	DEL	ENST00000256186.2	37	c.1406_1411delCTCCTA	CCDS41620.1																																																																																				0.573	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		7	24						7	24	---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62254983	62254984	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:62254983_62254984insA	ENST00000261517.5	-	33	3472_3473	c.3399_3400insT	c.(3397-3402)attgtcfs	p.V1134fs	VPS13C_ENST00000395898.3_Frame_Shift_Ins_p.V1091fs|VPS13C_ENST00000249837.3_Frame_Shift_Ins_p.V1091fs|VPS13C_ENST00000395896.4_Frame_Shift_Ins_p.V1134fs	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ACATCTGTGACAATAATATTTT	0.322																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(3397-3402)attcacfs		vacuolar protein sorting 13 homolog C (S. cerevisiae)																																				SO:0001589	frameshift_variant	54832				protein localization			g.chr15:62254983_62254984insA	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.3400dupT	15.37:g.62254985_62254985dupA	ENSP00000261517:p.Val1134fs		Somatic				VPS13C_ENST00000249837.3_Frame_Shift_Ins_p.H1091fs|VPS13C_ENST00000395898.3_Frame_Shift_Ins_p.H1091fs|VPS13C_ENST00000395896.4_Frame_Shift_Ins_p.H1134fs	p.H1134fs	NM_020821.2	NP_065872.1	WXS	Illumina GAIIx	Phase_I	Q709C8	VP13C_HUMAN			33	3472_3473	-			1134						Frame_Shift_Ins	INS	ENST00000261517.5	37	c.3399_3400insT	CCDS32257.1																																																																																				0.322	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		30	150						30	150	---	---	---	---
FES	2242	broad.mit.edu	37	15	91436556	91436557	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr15:91436556_91436557insC	ENST00000328850.3	+	16	2099_2100	c.1957_1958insC	c.(1957-1959)gccfs	p.A653fs	FES_ENST00000394302.1_Frame_Shift_Ins_p.A512fs|FES_ENST00000450438.2_Frame_Shift_Ins_p.A525fs|FES_ENST00000394300.3_Frame_Shift_Ins_p.A595fs|FES_ENST00000414248.2_Frame_Shift_Ins_p.A525fs|FES_ENST00000444422.2_Frame_Shift_Ins_p.A583fs	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	653	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CACGGAGGGGGCCCGCCTGCGG	0.673																																						ENST00000328850.3																			0				lung(2)|ovary(1)	3						c.(1957-1959)ccgfs		feline sarcoma oncogene																																				SO:0001589	frameshift_variant	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91436556_91436557insC	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.1960dupC	15.37:g.91436559_91436559dupC	ENSP00000331504:p.Ala653fs		Somatic				FES_ENST00000394300.3_Frame_Shift_Ins_p.P595fs|FES_ENST00000394302.1_Frame_Shift_Ins_p.P512fs|FES_ENST00000450438.2_Frame_Shift_Ins_p.P525fs|FES_ENST00000444422.2_Frame_Shift_Ins_p.P583fs|FES_ENST00000414248.2_Frame_Shift_Ins_p.P525fs	p.P653fs	NM_002005.3	NP_001996.1	WXS	Illumina GAIIx	Phase_I	P07332	FES_HUMAN	Lung(145;0.229)		16	2099_2100	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		653			Protein kinase.		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Frame_Shift_Ins	INS	ENST00000328850.3	37	c.1957_1958insC	CCDS10365.1																																																																																				0.673	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		10	57						10	57	---	---	---	---
CCDC144B	284047	broad.mit.edu	37	17	18498497	18498498	+	RNA	INS	-	-	A	rs397961350|rs59933375|rs80104188	byFrequency	TCGA-A3-3374-01A-01D-0966-08	TCGA-A3-3374-11A-01W-0886-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3	5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856	g.chr17:18498497_18498498insA	ENST00000442583.1	-	0	749							Q3MJ40	C144B_HUMAN	coiled-coil domain containing 144B (pseudogene)											NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTGCAGGCCTGAAAAAAAAAAA	0.243														2618	0.522764	0.528	0.4683	5008	,	,		15585	0.6756		0.4294	False		,,,				2504	0.4928					ENST00000442583.1																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36																																														284047							g.chr17:18498497_18498498insA	AK093811		17p11.2	2012-11-19	2011-09-02		ENSG00000154874	ENSG00000154874			26704	pseudogene	pseudogene			"""coiled-coil domain containing 144B"""			11997339	Standard	NR_036647		Approved	FLJ36492	uc002guc.2	Q3MJ40	OTTHUMG00000059531		17.37:g.18498508_18498508dupA			Somatic								WXS	Illumina GAIIx	Phase_I					0	749	-								Q6P5Q3|Q8N200	RNA	INS	ENST00000442583.1	37																																																																																						0.243	CCDC144B-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000132102.1	NM_182568		4	4						4	4	---	---	---	---
