#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DRP2	1821	broad.mit.edu	37	X	100513328	100513328	+	Silent	SNP	G	G	A			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chrX:100513328G>A	ENST00000395209.3	+	22	2948	c.2421G>A	c.(2419-2421)aaG>aaA	p.K807K	DRP2_ENST00000541709.1_Silent_p.K729K|DRP2_ENST00000402866.1_Silent_p.K807K|DRP2_ENST00000538510.1_Silent_p.K807K	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	807					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GGCGCCTGAAGTGGCAGCATG	0.602																																						ENST00000395209.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.(2419-2421)aaG>aaA		dystrophin related protein 2							26.0	25.0	25.0					X																	100513328		2197	4290	6487	SO:0001819	synonymous_variant	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100513328G>A	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.2421G>A	X.37:g.100513328G>A						DRP2_ENST00000402866.1_Silent_p.K807K|DRP2_ENST00000541709.1_Silent_p.K729K|DRP2_ENST00000538510.1_Silent_p.K807K	p.K807K	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN			22	2948	+			807					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Silent	SNP	ENST00000395209.3	37	c.2421G>A	CCDS14480.2																																																																																				0.602	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		2	4	0	0	0	1	0	2	4				
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33.0	42.0	39.0					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2700G>A	1.37:g.153907309C>T							p.Q900Q	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		3	67	0	0	0	1	0	3	67				
LRFN2	57497	broad.mit.edu	37	6	40360553	40360553	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr6:40360553G>A	ENST00000338305.6	-	3	2041	c.1499C>T	c.(1498-1500)aCg>aTg	p.T500M		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	500	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CGTGAGTGTCGTGGCTGTGTC	0.602																																						ENST00000338305.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1498-1500)aCg>aTg		leucine rich repeat and fibronectin type III domain containing 2							61.0	49.0	53.0					6																	40360553		2203	4300	6503	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40360553G>A	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1499C>T	6.37:g.40360553G>A	ENSP00000345985:p.Thr500Met						p.T500M	NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN			3	2041	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		500			Fibronectin type-III.		A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.1499C>T	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	g	20.0	3.930706	0.73327	.	.	ENSG00000156564	ENST00000338305	T	0.60672	0.17	5.51	5.51	0.81932	Fibronectin, type III (3);	0.000000	0.85682	D	0.000000	T	0.75280	0.3828	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78954	-0.2000	10	0.87932	D	0	.	17.9744	0.89122	0.0:0.0:1.0:0.0	.	500	Q9ULH4	LRFN2_HUMAN	M	500	ENSP00000345985:T500M	ENSP00000345985:T500M	T	-	2	0	LRFN2	40468531	1.000000	0.71417	0.955000	0.39395	0.704000	0.40688	9.819000	0.99357	2.584000	0.87258	0.651000	0.88453	ACG		0.602	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		11	25	0	0	0	1	0	11	25				
RAG1	5896	broad.mit.edu	37	11	36597064	36597064	+	Missense_Mutation	SNP	G	G	A	rs104894286		TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr11:36597064G>A	ENST00000299440.5	+	2	2322	c.2210G>A	c.(2209-2211)cGt>cAt	p.R737H		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	737			R -> H (in OS and CHIDG; reduced recombination activity when associated with T-507; dbSNP:rs104894286). {ECO:0000269|PubMed:18463379, ECO:0000269|PubMed:9630231}.		adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GATGCCACCCGTCTGGAAGCC	0.502									Familial Hemophagocytic Lymphohistiocytosis				G|||	1	0.000199681	0.0008	0.0	5008	,	,		18590	0.0		0.0	False		,,,				2504	0.0				Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	GRCh37	CM981696	RAG1	M	rs104894286	c.(2209-2211)cGt>cAt		recombination activating gene 1		G	HIS/ARG	0,4404		0,0,2202	83.0	80.0	81.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2210	6.1	1.0	11	dbSNP_132	81	1,8595	1.2+/-3.3	0,1,4297	no	missense	RAG1	NM_000448.2	29	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	737/1044	36597064	1,12999	2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36597064G>A	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2210G>A	11.37:g.36597064G>A	ENSP00000299440:p.Arg737His						p.R737H	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	2322	+	all_lung(20;0.226)	all_hematologic(20;0.107)	737		R -> H (in OS and CHIDG; reduced recombination activity when associated with T-507).			E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.2210G>A	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542171	0.85917	0.0	1.16E-4	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.88664	-2.41;-2.41	6.13	6.13	0.99165	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	D	0.96772	0.8946	H	0.96365	3.81	0.80722	A	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96968	0.9706	9	0.87932	D	0	.	20.8401	0.99726	0.0:0.0:1.0:0.0	.	737	P15918	RAG1_HUMAN	H	737	ENSP00000434610:R737H;ENSP00000299440:R737H	ENSP00000299440:R737H	R	+	2	0	RAG1	36553640	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.476000	0.97823	2.932000	0.99384	0.644000	0.83932	CGT		0.502	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		15	31	0	0	0	1	0	15	31				
C6	729	broad.mit.edu	37	5	41154017	41154017	+	Missense_Mutation	SNP	C	C	T	rs545743707		TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr5:41154017C>T	ENST00000263413.3	-	15	2449	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	C6_ENST00000337836.5_Missense_Mutation_p.E729K	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	729	C5b-binding domain.|CCP 2.|Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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)				CAAGTTAGCTCAATGGATTCA	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		20228	0.0		0.0	False		,,,				2504	0.001					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.(2185-2187)Gag>Aag		complement component 6							121.0	106.0	111.0					5																	41154017		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41154017C>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.2185G>A	5.37:g.41154017C>T	ENSP00000263413:p.Glu729Lys					C6_ENST00000337836.5_Missense_Mutation_p.E729K	p.E729K	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			15	2449	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	729			C5b-binding domain.|Sushi 2.			Missense_Mutation	SNP	ENST00000263413.3	37	c.2185G>A	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	4.300	0.054913	0.08291	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.63913	-0.07;-0.07	5.46	2.27	0.28462	Complement control module (2);Sushi/SCR/CCP (3);	0.518334	0.22969	N	0.053446	T	0.43590	0.1254	L	0.38175	1.15	0.39503	D	0.968231	B	0.16166	0.016	B	0.19666	0.026	T	0.23797	-1.0178	10	0.06236	T	0.91	-16.6662	8.1735	0.31268	0.0:0.2625:0.6213:0.1162	.	729	P13671	CO6_HUMAN	K	729	ENSP00000338861:E729K;ENSP00000263413:E729K	ENSP00000263413:E729K	E	-	1	0	C6	41189774	0.921000	0.31238	0.999000	0.59377	0.866000	0.49608	0.288000	0.18939	1.290000	0.44636	-0.315000	0.08773	GAG		0.478	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			17	48	0	0	0	1	0	17	48				
HSPG2	3339	broad.mit.edu	37	1	22174288	22174288	+	Missense_Mutation	SNP	G	G	A	rs374605446		TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr1:22174288G>A	ENST00000374695.3	-	61	7998	c.7919C>T	c.(7918-7920)aCg>aTg	p.T2640M	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2640	Ig-like C2-type 12.				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)	TTCCACCACCGTGGGGGAAGA	0.627																																						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.(7918-7920)aCg>aTg		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)	G	MET/THR	0,4406		0,0,2203	54.0	56.0	55.0		7919	3.0	0.1	1		55	1,8599	1.2+/-3.3	0,1,4299	no	missense	HSPG2	NM_005529.5	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	2640/4392	22174288	1,13005	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.chr1:22174288G>A	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.7919C>T	1.37:g.22174288G>A	ENSP00000363827:p.Thr2640Met					HSPG2_ENST00000430507.1_3'UTR	p.T2640M	NM_005529.5	NP_005520.4	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)	61	7998	-		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)	2640			Ig-like C2-type 12.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.7919C>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035510	0.35893	0.0	1.16E-4	ENSG00000142798	ENST00000374695;ENST00000453796	T;T	0.68624	-0.34;-0.34	5.13	3.02	0.34903	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.420272	0.17487	N	0.172485	T	0.69314	0.3097	M	0.74647	2.275	0.09310	N	1	P;P	0.47841	0.891;0.901	P;P	0.48901	0.594;0.594	T	0.61549	-0.7040	10	0.56958	D	0.05	.	7.4691	0.27338	0.2539:0.0:0.7461:0.0	.	580;2640	Q59EG0;P98160	.;PGBM_HUMAN	M	2640;55	ENSP00000363827:T2640M;ENSP00000396310:T55M	ENSP00000363827:T2640M	T	-	2	0	HSPG2	22046875	0.002000	0.14202	0.104000	0.21259	0.369000	0.29798	1.268000	0.33062	1.177000	0.42855	-0.119000	0.15052	ACG		0.627	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		3	34	0	0	0	1	0	3	34				
EPB41L3	23136	broad.mit.edu	37	18	5416266	5416266	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr18:5416266G>T	ENST00000341928.2	-	13	1958	c.1618C>A	c.(1618-1620)Cca>Aca	p.P540T	EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.P540T|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000400111.3_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	540	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCATAACCTGGCAGTTTGCAG	0.582																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(1618-1620)Cca>Aca		erythrocyte membrane protein band 4.1-like 3							79.0	80.0	79.0					18																	5416266		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5416266G>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1618C>A	18.37:g.5416266G>T	ENSP00000343158:p.Pro540Thr					EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.P540T|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000540638.2_Intron	p.P540T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			13	1958	-			540			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.1618C>A	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	0.096	-1.159027	0.01686	.	.	ENSG00000082397	ENST00000341928;ENST00000342933	T;T	0.80214	-1.35;-1.35	4.82	-1.84	0.07809	.	0.638768	0.15562	N	0.255889	T	0.61337	0.2339	L	0.36672	1.1	0.09310	N	1	B	0.17667	0.023	B	0.14023	0.01	T	0.42050	-0.9474	10	0.12430	T	0.62	.	2.1753	0.03860	0.3175:0.4115:0.1339:0.1371	.	540	Q9Y2J2	E41L3_HUMAN	T	540	ENSP00000343158:P540T;ENSP00000341138:P540T	ENSP00000343158:P540T	P	-	1	0	EPB41L3	5406266	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.135000	0.10420	-0.474000	0.06862	-0.300000	0.09419	CCA		0.582	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		25	73	1	0	1.75199e-13	1	1.86878e-13	25	73				
FAM86EP	348926	broad.mit.edu	37	4	3949896	3949896	+	RNA	SNP	C	C	T	rs113093629		TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr4:3949896C>T	ENST00000313946.8	-	0	206				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		CCTGTGGTGCCGTGGGAGATG	0.617													.|||	1	0.000199681	0.0	0.0	5008	,	,		20917	0.0		0.0	False		,,,				2504	0.001					ENST00000281228.8																			0																																																			0							g.chr4:3949896C>T			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3949896C>T						FAM86EP_ENST00000313946.8_RNA								0	395	-									RNA	SNP	ENST00000313946.8	37																																																																																						0.617	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			6	25	0	0	0	1	0	6	25				
LRRC3	81543	broad.mit.edu	37	21	45877185	45877185	+	Missense_Mutation	SNP	G	G	A	rs144515231		TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr21:45877185G>A	ENST00000291592.4	+	2	975	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	LRRC3-AS1_ENST00000426578.1_RNA|LRRC3DN_ENST00000596691.1_5'Flank	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	220						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CATGGTGATCGCCTACGTCGT	0.642																																						ENST00000291592.4																			0				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						c.(658-660)Gcc>Acc		leucine rich repeat containing 3		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	78.0	76.0	77.0		658	-9.8	0.1	21	dbSNP_134	77	0,8600		0,0,4300	no	missense	LRRC3	NM_030891.3	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	220/258	45877185	1,13005	2203	4300	6503	SO:0001583	missense	81543					integral to membrane	protein binding	g.chr21:45877185G>A	AB058646	CCDS13711.1	21q22.3	2011-12-07	2002-06-20		ENSG00000160233	ENSG00000160233			14965	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 102"""	C21orf102		12036297	Standard	NM_030891		Approved		uc002zfa.3	Q9BY71	OTTHUMG00000040847	ENST00000291592.4:c.658G>A	21.37:g.45877185G>A	ENSP00000291592:p.Ala220Thr						p.A220T	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)	2	975	+		Breast(209;0.00908)	220					Q0VDJ2	Missense_Mutation	SNP	ENST00000291592.4	37	c.658G>A	CCDS13711.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.248017	0.22880	2.27E-4	0.0	ENSG00000160233	ENST00000291592	T	0.59083	0.29	4.87	-9.75	0.00506	.	0.350509	0.28784	N	0.014143	T	0.31389	0.0795	N	0.17474	0.49	0.30590	N	0.761654	B	0.15930	0.015	B	0.09377	0.004	T	0.18241	-1.0343	10	0.08837	T	0.75	-21.6312	18.5163	0.90936	0.3622:0.0:0.6378:0.0	.	220	Q9BY71	LRRC3_HUMAN	T	220	ENSP00000291592:A220T	ENSP00000291592:A220T	A	+	1	0	LRRC3	44701613	0.000000	0.05858	0.088000	0.20740	0.434000	0.31775	-0.337000	0.07852	-2.188000	0.00758	-0.424000	0.05967	GCC		0.642	LRRC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098095.3			3	90	0	0	0	1	0	3	90				
ISLR	3671	broad.mit.edu	37	15	74467265	74467265	+	Silent	SNP	C	C	T			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr15:74467265C>T	ENST00000249842.3	+	2	423	c.66C>T	c.(64-66)ccC>ccT	p.P22P	ISLR_ENST00000395118.1_Silent_p.P22P|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	22	LRRNT.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GCCCTGAGCCCTGCGACTGTG	0.627																																						ENST00000249842.3																			0				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						c.(64-66)ccC>ccT		immunoglobulin superfamily containing leucine-rich repeat							49.0	45.0	46.0					15																	74467265		2198	4297	6495	SO:0001819	synonymous_variant	3671				cell adhesion	extracellular region		g.chr15:74467265C>T	AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.66C>T	15.37:g.74467265C>T						ISLR_ENST00000395118.1_Silent_p.P22P|RP11-665J16.1_ENST00000561647.1_RNA	p.P22P	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN			2	423	+			22			LRRNT.			Silent	SNP	ENST00000249842.3	37	c.66C>T	CCDS10260.1																																																																																				0.627	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269044.1	NM_005545		13	34	0	0	0	1	0	13	34				
ABCC3	8714	broad.mit.edu	37	17	48745031	48745031	+	Silent	SNP	C	C	A			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr17:48745031C>A	ENST00000285238.8	+	12	1628	c.1548C>A	c.(1546-1548)ggC>ggA	p.G516G	ABCC3_ENST00000427699.1_Silent_p.G516G	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	516	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	AGGTGGAGGGCATCAGGCAGG	0.612																																						ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1546-1548)ggC>ggA		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						72.0	59.0	63.0					17																	48745031		2203	4300	6503	SO:0001819	synonymous_variant	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48745031C>A	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.1548C>A	17.37:g.48745031C>A						ABCC3_ENST00000427699.1_Silent_p.G516G	p.G516G	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		12	1628	+			516			ABC transmembrane type-1 1.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Silent	SNP	ENST00000285238.8	37	c.1548C>A	CCDS32681.1																																																																																				0.612	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		5	59	1	0	1	1	1	5	59				
MED13	9969	broad.mit.edu	37	17	60060259	60060259	+	Missense_Mutation	SNP	T	T	A			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr17:60060259T>A	ENST00000397786.2	-	16	3181	c.3105A>T	c.(3103-3105)aaA>aaT	p.K1035N		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1035					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)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AATTTTCATATTTGACTGAAC	0.507																																						ENST00000397786.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(3103-3105)aaA>aaT		mediator complex subunit 13							84.0	85.0	85.0					17																	60060259		1945	4133	6078	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60060259T>A	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.3105A>T	17.37:g.60060259T>A	ENSP00000380888:p.Lys1035Asn						p.K1035N	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN			16	3181	-			1035					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.3105A>T	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	T	17.07	3.294136	0.60086	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.75704	-0.96	5.84	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.82273	0.5001	M	0.68952	2.095	0.58432	D	0.999995	D	0.76494	0.999	D	0.78314	0.991	T	0.82102	-0.0623	10	0.66056	D	0.02	-0.9803	7.6878	0.28550	0.0:0.2281:0.0:0.7719	.	1035	Q9UHV7	MED13_HUMAN	N	1035;1034	ENSP00000380888:K1035N	ENSP00000262436:K1034N	K	-	3	2	MED13	57415041	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	0.587000	0.23909	1.049000	0.40321	0.533000	0.62120	AAA		0.507	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		17	37	0	0	0	1	0	17	37				
ZNF433	163059	broad.mit.edu	37	19	12126896	12126896	+	Silent	SNP	T	T	C			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr19:12126896T>C	ENST00000344980.6	-	4	956	c.786A>G	c.(784-786)gcA>gcG	p.A262A	CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA|ZNF433_ENST00000419886.2_Silent_p.A227A|CTD-2006C1.2_ENST00000476474.1_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	262					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(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						AACTATGGAATGCTTTCCCAC	0.418																																						ENST00000419886.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						c.(679-681)gcA>gcG		zinc finger protein 433							88.0	88.0	88.0					19																	12126896		2202	4299	6501	SO:0001819	synonymous_variant	163059				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12126896T>C	AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"""Zinc fingers, C2H2-type"", ""-"""	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.786A>G	19.37:g.12126896T>C						CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA|ZNF433_ENST00000344980.6_Silent_p.A262A|CTD-2006C1.2_ENST00000476474.1_RNA	p.A227A			Q8N7K0	ZN433_HUMAN			5	972	-			262					Q86VX3	Silent	SNP	ENST00000344980.6	37	c.681A>G	CCDS45983.1																																																																																				0.418	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602		20	46	0	0	0	1	0	20	46				
RIF1	55183	broad.mit.edu	37	2	152322042	152322042	+	Missense_Mutation	SNP	A	A	C			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr2:152322042A>C	ENST00000243326.5	+	29	6491	c.6008A>C	c.(6007-6009)aAt>aCt	p.N2003T	RIF1_ENST00000430328.2_Missense_Mutation_p.N2003T|RIF1_ENST00000428287.2_Missense_Mutation_p.N2003T|RIF1_ENST00000444746.2_Missense_Mutation_p.N2003T|RIF1_ENST00000453091.2_Missense_Mutation_p.N2003T			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GATGGAGGAAATGATGTATCT	0.368																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(6007-6009)aAt>aCt		RAP1 interacting factor homolog (yeast)							56.0	57.0	57.0					2																	152322042		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152322042A>C	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.6008A>C	2.37:g.152322042A>C	ENSP00000243326:p.Asn2003Thr					RIF1_ENST00000444746.2_Missense_Mutation_p.N2003T|RIF1_ENST00000428287.2_Missense_Mutation_p.N2003T|RIF1_ENST00000430328.2_Missense_Mutation_p.N2003T|RIF1_ENST00000453091.2_Missense_Mutation_p.N2003T	p.N2003T			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	29	6491	+			2003			Interaction with condensed chromosomes in telophase.		A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.6008A>C	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.368755	0.24771	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.10668	2.87;2.85;2.85;2.87;2.85	5.6	-5.4	0.02656	.	1.269580	0.04585	N	0.395690	T	0.06781	0.0173	N	0.14661	0.345	0.09310	N	1	B;B	0.19706	0.022;0.038	B;B	0.15870	0.01;0.014	T	0.36529	-0.9744	10	0.19147	T	0.46	0.7654	13.8987	0.63790	0.7105:0.0:0.2895:0.0	.	2003;2003	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	T	2003	ENSP00000390181:N2003T;ENSP00000414615:N2003T;ENSP00000415691:N2003T;ENSP00000243326:N2003T;ENSP00000416123:N2003T	ENSP00000243326:N2003T	N	+	2	0	RIF1	152030288	0.130000	0.22417	0.000000	0.03702	0.001000	0.01503	0.438000	0.21559	-1.231000	0.02557	-0.917000	0.02746	AAT		0.368	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			8	15	0	0	0	1	0	8	15				
KIF25	3834	broad.mit.edu	37	6	168430272	168430272	+	Missense_Mutation	SNP	T	T	A			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr6:168430272T>A	ENST00000443060.2	+	3	398	c.7T>A	c.(7-9)Tgg>Agg	p.W3R	KIF25_ENST00000354419.2_Missense_Mutation_p.W3R|KIF25_ENST00000351261.3_Missense_Mutation_p.W3R			Q9UIL4	KIF25_HUMAN	kinesin family member 25	3					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.W3R(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CCAGATGACATGGACCTCAGG	0.612																																						ENST00000443060.2																			1	Substitution - Missense(1)	p.W3R(1)	skin(1)	NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(7-9)Tgg>Agg		kinesin family member 25							127.0	120.0	122.0					6																	168430272		2203	4300	6503	SO:0001583	missense	0				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168430272T>A	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.7T>A	6.37:g.168430272T>A	ENSP00000388878:p.Trp3Arg					KIF25_ENST00000354419.2_Missense_Mutation_p.W3R|KIF25_ENST00000351261.3_Missense_Mutation_p.W3R	p.W3R			Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	3	398	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	3			Kinesin-motor.		O94775|Q5SZU9	Missense_Mutation	SNP	ENST00000443060.2	37	c.7T>A	CCDS5305.1	.	.	.	.	.	.	.	.	.	.	t	0.006	-2.097855	0.00360	.	.	ENSG00000125337	ENST00000443060;ENST00000354419;ENST00000351261	T;T;T	0.72725	-0.68;-0.68;0.12	0.785	0.785	0.18584	.	0.000000	0.46758	U	0.000269	T	0.19604	0.0471	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21552	-1.0242	9	.	.	.	.	3.8317	0.08877	0.0:0.0:0.0:1.0	.	3;3	Q9UIL4-2;Q9UIL4	.;KIF25_HUMAN	R	3	ENSP00000388878:W3R;ENSP00000346401:W3R;ENSP00000252688:W3R	.	W	+	1	0	KIF25	168173121	0.001000	0.12720	0.011000	0.14972	0.015000	0.08874	-0.031000	0.12287	0.590000	0.29694	0.334000	0.21626	TGG		0.612	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			3	144	0	0	0	1	0	3	144				
SH2D4A	63898	broad.mit.edu	37	8	19218826	19218826	+	Splice_Site	SNP	G	G	A	rs145746072	byFrequency	TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr8:19218826G>A	ENST00000265807.3	+	6	1117		c.e6+1		SH2D4A_ENST00000518040.1_Splice_Site|SH2D4A_ENST00000519207.1_Splice_Site	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A						negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		CAGGCATCTCGTGAGTACCCA	0.418																																						ENST00000265807.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16						c.e6+1		SH2 domain containing 4A		G	,,	2,4404	4.2+/-10.8	0,2,2201	59.0	58.0	58.0		,,	5.3	1.0	8	dbSNP_134	58	19,8581	14.0+/-48.4	0,19,4281	yes	splice-5,splice-5,splice-5	SH2D4A	NM_001174159.1,NM_001174160.1,NM_022071.3	,,	0,21,6482	AA,AG,GG		0.2209,0.0454,0.1615	,,	,,	19218826	21,12985	2203	4300	6503	SO:0001630	splice_region_variant	63898					cytoplasm|nucleus	protein binding	g.chr8:19218826G>A	AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	26102	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 38"""	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.706+1G>A	8.37:g.19218826G>A						SH2D4A_ENST00000518040.1_Splice_Site|SH2D4A_ENST00000519207.1_Splice_Site		NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN		Colorectal(111;0.0732)	6	1117	+								B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Splice_Site	SNP	ENST00000265807.3	37		CCDS6009.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809229	0.31961	4.54E-4	0.002209	ENSG00000104611	ENST00000265807;ENST00000518040;ENST00000519207	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5321	0.67934	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SH2D4A	19263106	0.999000	0.42202	0.992000	0.48379	0.267000	0.26476	4.449000	0.60034	2.501000	0.84356	0.655000	0.94253	.		0.418	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1	NM_022071	Intron	4	11	0	0	0	1	0	4	11				
GTF2E2	2961	broad.mit.edu	37	8	30437879	30437879	+	Missense_Mutation	SNP	A	A	C			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr8:30437879A>C	ENST00000355904.4	-	7	960	c.678T>G	c.(676-678)gaT>gaG	p.D226E		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	226					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIE complex (GO:0005673)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		CGTCCATGGAATCTACAGTGA	0.373																																						ENST00000355904.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(676-678)gaT>gaG		general transcription factor IIE, polypeptide 2, beta 34kDa							139.0	127.0	131.0					8																	30437879		2203	4300	6503	SO:0001583	missense	2961				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding	g.chr8:30437879A>C	BC030572	CCDS6078.1	8p12	2010-03-23	2002-08-29		ENSG00000197265	ENSG00000197265		"""General transcription factors"""	4651	protein-coding gene	gene with protein product		189964	"""general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)"""			1956404	Standard	NM_002095		Approved	TFIIE-B, FE, TF2E2	uc003xig.3	P29084	OTTHUMG00000163934	ENST00000355904.4:c.678T>G	8.37:g.30437879A>C	ENSP00000348168:p.Asp226Glu						p.D226E	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)	7	960	-			226					D3DSV2|Q9H2B9	Missense_Mutation	SNP	ENST00000355904.4	37	c.678T>G	CCDS6078.1	.	.	.	.	.	.	.	.	.	.	A	12.13	1.847039	0.32606	.	.	ENSG00000197265	ENST00000355904	T	0.34667	1.35	5.74	2.05	0.26809	.	0.088679	0.85682	D	0.000000	T	0.25754	0.0627	L	0.43152	1.355	0.58432	D	0.999996	B	0.22080	0.064	B	0.24541	0.054	T	0.05370	-1.0889	10	0.27785	T	0.31	-11.4784	5.6309	0.17510	0.7005:0.145:0.1546:0.0	.	226	P29084	T2EB_HUMAN	E	226	ENSP00000348168:D226E	ENSP00000348168:D226E	D	-	3	2	GTF2E2	30557421	1.000000	0.71417	0.997000	0.53966	0.484000	0.33280	2.084000	0.41625	0.109000	0.17891	-0.316000	0.08728	GAT		0.373	GTF2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376459.2	NM_002095		28	59	0	0	0	1	0	28	59				
KRT25	147183	broad.mit.edu	37	17	38907252	38907252	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr17:38907252C>T	ENST00000312150.4	-	5	971	c.911G>A	c.(910-912)cGc>cAc	p.R304H		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TTGAAGAGTGCGCTTCATTTC	0.473																																						ENST00000312150.4																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(910-912)cGc>cAc		keratin 25							124.0	122.0	123.0					17																	38907252		2203	4300	6503	SO:0001583	missense	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38907252C>T	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.911G>A	17.37:g.38907252C>T	ENSP00000310573:p.Arg304His						p.R304H	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			5	971	-		Breast(137;0.00526)	304			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000312150.4	37	c.911G>A	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878808	0.91740	.	.	ENSG00000204897	ENST00000312150	D	0.90504	-2.68	5.84	5.84	0.93424	Filament (1);	0.000000	0.64402	D	0.000005	D	0.95345	0.8489	M	0.74546	2.27	0.44227	D	0.997062	D	0.89917	1.0	D	0.83275	0.996	D	0.94344	0.7573	9	.	.	.	.	20.1533	0.98095	0.0:1.0:0.0:0.0	.	304	Q7Z3Z0	K1C25_HUMAN	H	304	ENSP00000310573:R304H	.	R	-	2	0	KRT25	36160778	1.000000	0.71417	0.994000	0.49952	0.957000	0.61999	3.708000	0.54845	2.758000	0.94735	0.655000	0.94253	CGC		0.473	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		11	100	0	0	0	1	0	11	100				
SLC3A1	6519	broad.mit.edu	37	2	44547502	44547502	+	Missense_Mutation	SNP	C	C	G	rs373561366		TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr2:44547502C>G	ENST00000260649.6	+	10	1858	c.1782C>G	c.(1780-1782)atC>atG	p.I594M	SLC3A1_ENST00000409380.1_Missense_Mutation_p.I316M|SLC3A1_ENST00000409740.3_Missense_Mutation_p.I225M|PREPL_ENST00000409411.1_3'UTR|PREPL_ENST00000541738.1_3'UTR|PREPL_ENST00000409936.1_3'UTR|PREPL_ENST00000409957.1_3'UTR	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	594					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|basic amino acid transport (GO:0015802)|carbohydrate metabolic process (GO:0005975)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)|vacuolar membrane (GO:0005774)	amino acid transmembrane transporter activity (GO:0015171)|basic amino acid transmembrane transporter activity (GO:0015174)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|L-cystine transmembrane transporter activity (GO:0015184)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GAATCTTTATCGTGGTTCTGA	0.423																																						ENST00000260649.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26						c.(1780-1782)atC>atG		solute carrier family 3 (amino acid transporter heavy chain), member 1	L-Cystine(DB00138)						141.0	125.0	130.0					2																	44547502		2203	4300	6503	SO:0001583	missense	6519				carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity	g.chr2:44547502C>G		CCDS1819.1	2p16.3	2013-07-19	2013-07-19		ENSG00000138079	ENSG00000138079		"""Solute carriers"""	11025	protein-coding gene	gene with protein product		104614	"""solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1"""			8486766, 9186880	Standard	NM_000341		Approved	CSNU1, D2H, RBAT, ATR1, NBAT	uc002ruc.4	Q07837	OTTHUMG00000128759	ENST00000260649.6:c.1782C>G	2.37:g.44547502C>G	ENSP00000260649:p.Ile594Met					SLC3A1_ENST00000409740.3_Missense_Mutation_p.I225M|PREPL_ENST00000409957.1_3'UTR|PREPL_ENST00000409936.1_3'UTR|PREPL_ENST00000409411.1_3'UTR|PREPL_ENST00000541738.1_3'UTR|SLC3A1_ENST00000409380.1_Missense_Mutation_p.I316M	p.I594M	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN			10	1858	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	594					A8K0S1|O00658|Q15295|Q4J6B4|Q4J6B5|Q4J6B6|Q4J6B7|Q4J6B8|Q4J6B9|Q52M92|Q52M94	Missense_Mutation	SNP	ENST00000260649.6	37	c.1782C>G	CCDS1819.1	.	.	.	.	.	.	.	.	.	.	C	7.553	0.663104	0.14710	.	.	ENSG00000138079	ENST00000260649;ENST00000540334;ENST00000409380;ENST00000409740	D;D;D	0.97161	-4.27;-4.27;-4.27	5.99	-1.18	0.09617	.	0.538850	0.21191	N	0.078659	D	0.89849	0.6834	N	0.16368	0.405	0.23076	N	0.998331	B	0.16396	0.017	B	0.13407	0.009	T	0.80511	-0.1350	10	0.36615	T	0.2	-6.3642	3.6354	0.08147	0.0889:0.422:0.2955:0.1936	.	594	Q07837	SLC31_HUMAN	M	594;530;316;225	ENSP00000260649:I594M;ENSP00000386709:I316M;ENSP00000386677:I225M	ENSP00000260649:I594M	I	+	3	3	SLC3A1	44401006	0.149000	0.22717	0.003000	0.11579	0.517000	0.34286	-0.760000	0.04756	-0.572000	0.06006	-0.169000	0.13324	ATC		0.423	SLC3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250676.1	NM_000341		18	67	0	0	0	1	0	18	67				
BIRC2	329	broad.mit.edu	37	11	102248361	102248361	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr11:102248361C>G	ENST00000227758.2	+	7	2900	c.1501C>G	c.(1501-1503)Cag>Gag	p.Q501E	BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000532672.1_Missense_Mutation_p.Q480E|BIRC2_ENST00000530675.1_Missense_Mutation_p.Q452E	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	501	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein K48-linked ubiquitination (GO:1902524)|positive regulation of protein K63-linked ubiquitination (GO:1902523)|positive regulation of protein monoubiquitination (GO:1902527)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|regulation of transcription, DNA-templated (GO:0006355)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		ACAAAAAACACAGATACCTTT	0.333																																						ENST00000227758.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1501-1503)Cag>Gag		baculoviral IAP repeat containing 2							67.0	77.0	74.0					11																	102248361		2203	4297	6500	SO:0001583	missense	329				cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:102248361C>G	L49431	CCDS8316.1, CCDS58169.1	11q22	2011-01-25	2011-01-25		ENSG00000110330	ENSG00000110330		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	590	protein-coding gene	gene with protein product	"""NFR2-TRAF signalling complex protein"", ""apoptosis inhibitor 1"""	601712	"""baculoviral IAP repeat-containing 2"""	API1		8552191, 8548810	Standard	NM_001166		Approved	cIAP1, hiap-2, MIHB, RNF48, c-IAP1	uc010ruq.3	Q13490	OTTHUMG00000167325	ENST00000227758.2:c.1501C>G	11.37:g.102248361C>G	ENSP00000227758:p.Gln501Glu					BIRC2_ENST00000532672.1_Missense_Mutation_p.Q480E|BIRC2_ENST00000530675.1_Missense_Mutation_p.Q452E|BIRC2_ENST00000527910.1_3'UTR	p.Q501E	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)	7	2900	+	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	501			CARD.		B4E026|Q16516|Q4TTG0	Missense_Mutation	SNP	ENST00000227758.2	37	c.1501C>G	CCDS8316.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523607	0.64747	.	.	ENSG00000110330	ENST00000530675;ENST00000533742;ENST00000227758;ENST00000541741;ENST00000532672;ENST00000531259	T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05	5.83	5.83	0.93111	DEATH-like (2);Caspase Recruitment (3);	0.106971	0.64402	D	0.000003	T	0.34048	0.0884	M	0.72479	2.2	0.58432	D	0.999996	B	0.27498	0.18	B	0.38500	0.275	T	0.10132	-1.0643	10	0.15952	T	0.53	-22.1291	20.1316	0.98000	0.0:1.0:0.0:0.0	.	501	Q13490	BIRC2_HUMAN	E	452;163;501;501;480;36	ENSP00000431723:Q452E;ENSP00000433851:Q163E;ENSP00000227758:Q501E;ENSP00000434979:Q480E;ENSP00000436741:Q36E	ENSP00000227758:Q501E	Q	+	1	0	BIRC2	101753571	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.931000	0.63469	2.766000	0.95052	0.650000	0.86243	CAG		0.333	BIRC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394170.1	NM_001166		12	19	0	0	0	1	0	12	19				
C19orf44	84167	broad.mit.edu	37	19	16620545	16620545	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr19:16620545A>G	ENST00000221671.3	+	5	1541	c.1385A>G	c.(1384-1386)aAc>aGc	p.N462S	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.N462S	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	462										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CCCATGGTGAACACAGTCAGC	0.547																																						ENST00000221671.3																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						c.(1384-1386)aAc>aGc		chromosome 19 open reading frame 44							79.0	77.0	78.0					19																	16620545		2203	4300	6503	SO:0001583	missense	84167							g.chr19:16620545A>G	AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.1385A>G	19.37:g.16620545A>G	ENSP00000221671:p.Asn462Ser					C19orf44_ENST00000594035.1_Missense_Mutation_p.N462S|CTD-3222D19.2_ENST00000409035.1_Intron	p.N462S	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN			5	1541	+			462					Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	c.1385A>G	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	A	0.016	-1.518151	0.00967	.	.	ENSG00000105072	ENST00000221671	.	.	.	4.03	-0.04	0.13873	.	0.840154	0.10733	N	0.640416	T	0.07863	0.0197	N	0.00972	-1.085	0.09310	N	1	B;B;B	0.12013	0.002;0.001;0.005	B;B;B	0.06405	0.001;0.0;0.002	T	0.35724	-0.9777	9	0.11794	T	0.64	0.0456	3.9404	0.09325	0.2676:0.1838:0.5486:0.0	.	462;135;462	Q9H6X5;B4DN63;Q9H6X5-2	CS044_HUMAN;.;.	S	462	.	ENSP00000221671:N462S	N	+	2	0	C19orf44	16481545	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.172000	0.16704	-0.263000	0.09378	-0.417000	0.06048	AAC		0.547	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207		20	33	0	0	0	1	0	20	33				
LOC102546299	102546299	broad.mit.edu	37	5	164028104	164028104	+	RNA	SNP	G	G	A			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr5:164028104G>A	ENST00000486913.3	+	0	282				CTC-340A15.2_ENST00000517508.1_RNA|CTC-340A15.2_ENST00000523704.1_RNA|CTC-340A15.2_ENST00000519570.1_RNA|CTC-340A15.2_ENST00000522303.1_RNA|CTC-340A15.2_ENST00000519750.1_RNA|CTC-340A15.2_ENST00000522646.1_RNA																							CGCCCAGGTCGTGGCCGATCA	0.602																																						ENST00000486913.3																			0																																																			0							g.chr5:164028104G>A																													5.37:g.164028104G>A						CTC-340A15.2_ENST00000519570.1_RNA|CTC-340A15.2_ENST00000517508.1_RNA|CTC-340A15.2_ENST00000522303.1_RNA|CTC-340A15.2_ENST00000523704.1_RNA|CTC-340A15.2_ENST00000522646.1_RNA								0	282	+									RNA	SNP	ENST00000486913.3	37																																																																																						0.602	CTC-340A15.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000370926.1			4	15	0	0	0	1	0	4	15				
CNTNAP5	129684	broad.mit.edu	37	2	125547651	125547651	+	Silent	SNP	G	G	A			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr2:125547651G>A	ENST00000431078.1	+	18	3286	c.2922G>A	c.(2920-2922)gtG>gtA	p.V974V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	974	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCAAGTGTGTGGAGAAGCACA	0.557																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(2920-2922)gtG>gtA		contactin associated protein-like 5							62.0	70.0	67.0					2																	125547651		2107	4223	6330	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125547651G>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2922G>A	2.37:g.125547651G>A							p.V974V	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	18	3286	+			974			EGF-like 2.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.2922G>A	CCDS46401.1																																																																																				0.557	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			16	22	0	0	0	1	0	16	22				
MYO15A	51168	broad.mit.edu	37	17	18023607	18023607	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr17:18023607C>T	ENST00000205890.5	+	2	1831	c.1493C>T	c.(1492-1494)cCa>cTa	p.P498L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	498					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GTGCCCCTGCCACCCTCTCTG	0.642																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(1492-1494)cCa>cTa		myosin XVA							36.0	44.0	41.0					17																	18023607		2045	4178	6223	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18023607C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1493C>T	17.37:g.18023607C>T	ENSP00000205890:p.Pro498Leu						p.P498L	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	1831	+	all_neural(463;0.228)		498			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.1493C>T	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368143	0.82463	.	.	ENSG00000091536	ENST00000205890	T	0.43294	0.95	5.1	5.1	0.69264	.	.	.	.	.	T	0.55893	0.1949	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.59820	-0.7382	9	0.72032	D	0.01	.	18.1103	0.89533	0.0:1.0:0.0:0.0	.	498	Q9UKN7	MYO15_HUMAN	L	498	ENSP00000205890:P498L	ENSP00000205890:P498L	P	+	2	0	MYO15A	17964332	0.996000	0.38824	0.752000	0.31206	0.802000	0.45316	3.626000	0.54245	2.374000	0.81015	0.561000	0.74099	CCA		0.642	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		17	37	0	0	0	1	0	17	37				
BDKRB1	623	broad.mit.edu	37	14	96730362	96730362	+	Missense_Mutation	SNP	G	G	C			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr14:96730362G>C	ENST00000216629.6	+	3	949	c.343G>C	c.(343-345)Ggg>Cgg	p.G115R	BDKRB1_ENST00000553356.1_Missense_Mutation_p.G115R|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	115					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TGTCATCAACGGGGTCATCAA	0.572																																						ENST00000216629.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16						c.(343-345)Ggg>Cgg		bradykinin receptor B1							81.0	79.0	79.0					14																	96730362		2203	4300	6503	SO:0001583	missense	0				elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity	g.chr14:96730362G>C	L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"""GPCR / Class A : Bradykinin receptors"""	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.343G>C	14.37:g.96730362G>C	ENSP00000216629:p.Gly115Arg					RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Missense_Mutation_p.G115R	p.G115R	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)	3	949	+		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)	115					A8K7F5|Q546S7|Q8N0Y8	Missense_Mutation	SNP	ENST00000216629.6	37	c.343G>C	CCDS9943.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052484	0.36181	.	.	ENSG00000100739	ENST00000216629;ENST00000553356	T;T	0.37752	1.18;1.18	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.397501	0.24808	N	0.035425	T	0.64713	0.2623	M	0.88512	2.96	0.23889	N	0.996558	D;D	0.76494	0.999;0.999	D;D	0.71656	0.956;0.974	T	0.62905	-0.6755	10	0.72032	D	0.01	-22.8159	13.6725	0.62434	0.0765:0.0:0.9235:0.0	.	115;115	G3V4Y2;P46663	.;BKRB1_HUMAN	R	115	ENSP00000216629:G115R;ENSP00000452064:G115R	ENSP00000216629:G115R	G	+	1	0	BDKRB1	95800115	0.000000	0.05858	0.188000	0.23233	0.300000	0.27592	0.338000	0.19858	2.589000	0.87451	0.555000	0.69702	GGG		0.572	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413300.1			24	90	0	0	0	1	0	24	90				
OR1M1	125963	broad.mit.edu	37	19	9204125	9204125	+	Missense_Mutation	SNP	G	G	A	rs202009987		TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr19:9204125G>A	ENST00000429566.3	+	1	271	c.205G>A	c.(205-207)Gtt>Att	p.V69I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V69I(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTGTCCCTGGTTGATTTCTG	0.557																																						ENST00000429566.3																			2	Substitution - Missense(2)	p.V69I(2)	prostate(1)|lung(1)	breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(205-207)Gtt>Att		olfactory receptor, family 1, subfamily M, member 1							108.0	82.0	91.0					19																	9204125		2203	4300	6503	SO:0001583	missense	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204125G>A		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.205G>A	19.37:g.9204125G>A	ENSP00000401966:p.Val69Ile						p.V69I	NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN			1	271	+			69					B9EHA6|Q6IFJ3|Q96R91	Missense_Mutation	SNP	ENST00000429566.3	37	c.205G>A	CCDS32896.1	.	.	.	.	.	.	.	.	.	.	g	11.00	1.509904	0.27036	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	T	0.02916	4.11	3.49	-0.909	0.10514	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000102	T	0.05960	0.0155	L	0.39397	1.21	0.09310	N	1	D	0.64830	0.994	D	0.70716	0.97	T	0.23154	-1.0196	10	0.54805	T	0.06	.	4.7447	0.13031	0.4655:0.159:0.3755:0.0	.	69	Q8NGA1	OR1M1_HUMAN	I	72;69	ENSP00000401966:V69I	ENSP00000303195:V72I	V	+	1	0	OR1M1	9065125	0.000000	0.05858	0.004000	0.12327	0.429000	0.31625	-5.071000	0.00154	-0.175000	0.10725	-0.508000	0.04489	GTT		0.557	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			5	87	0	0	0	1	0	5	87				
CLASP2	23122	broad.mit.edu	37	3	33686339	33686339	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr3:33686339A>G	ENST00000468888.2	-	8	818	c.772T>C	c.(772-774)Tca>Cca	p.S258P	CLASP2_ENST00000399362.4_Missense_Mutation_p.S258P|CLASP2_ENST00000313350.6_Missense_Mutation_p.S31P|CLASP2_ENST00000480013.1_Missense_Mutation_p.S25P|CLASP2_ENST00000359576.5_Missense_Mutation_p.S258P|CLASP2_ENST00000482896.1_5'UTR|CLASP2_ENST00000307312.7_5'UTR|CLASP2_ENST00000487200.1_Missense_Mutation_p.S31P|CLASP2_ENST00000333778.6_Missense_Mutation_p.S35P|CLASP2_ENST00000539981.1_Missense_Mutation_p.S31P|CLASP2_ENST00000461133.3_Missense_Mutation_p.S25P			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	25					axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TTGAAGGCTGATGCAGCTGAT	0.438																																						ENST00000399362.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(772-774)Tca>Cca		cytoplasmic linker associated protein 2							98.0	93.0	94.0					3																	33686339		1954	4157	6111	SO:0001583	missense	23122							g.chr3:33686339A>G	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.772T>C	3.37:g.33686339A>G	ENSP00000419974:p.Ser258Pro					CLASP2_ENST00000359576.5_Missense_Mutation_p.S258P|CLASP2_ENST00000539981.1_Missense_Mutation_p.S31P|CLASP2_ENST00000461133.3_Missense_Mutation_p.S25P|CLASP2_ENST00000468888.2_Missense_Mutation_p.S258P|CLASP2_ENST00000313350.6_Missense_Mutation_p.S31P|CLASP2_ENST00000307312.7_5'UTR|CLASP2_ENST00000482896.1_5'UTR|CLASP2_ENST00000333778.6_Missense_Mutation_p.S35P|CLASP2_ENST00000480013.1_Missense_Mutation_p.S25P|CLASP2_ENST00000487200.1_Missense_Mutation_p.S31P	p.S258P	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN			8	1125	-			258					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37	c.772T>C		.	.	.	.	.	.	.	.	.	.	A	18.42	3.619070	0.66787	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000539981;ENST00000480013;ENST00000461133;ENST00000313350;ENST00000487200;ENST00000333778;ENST00000485378;ENST00000496954	T;T;T	0.22336	1.96;1.99;1.99	5.97	5.97	0.96955	.	0.213930	0.41097	D	0.000957	T	0.35566	0.0936	L	0.43923	1.385	0.80722	D	1	B;D;D;P	0.60575	0.104;0.988;0.973;0.718	B;P;P;P	0.59825	0.04;0.864;0.786;0.528	T	0.04693	-1.0933	10	0.72032	D	0.01	-15.2732	15.0245	0.71659	1.0:0.0:0.0:0.0	.	35;31;31;258	E7ENG2;B3KR06;O75122-2;F5H604	.;.;.;.	P	258;258;258;31;25;25;31;31;35;31;25	ENSP00000419974:S258P;ENSP00000382297:S258P;ENSP00000352581:S258P	ENSP00000324364:S31P	S	-	1	0	CLASP2	33661343	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.812000	0.62613	2.285000	0.76669	0.477000	0.44152	TCA		0.438	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		2	10	0	0	0	1	0	2	10				
BMS1P20	96610	broad.mit.edu	37	22	22661478	22661478	+	RNA	SNP	T	T	G			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr22:22661478T>G	ENST00000426066.1	+	0	368					NR_027293.1				BMS1 pseudogene 20																		CAGATGCGTCTGAAGAAACAT	0.488																																						ENST00000426066.1																			0																																																			0							g.chr22:22661478T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661478T>G								NR_027293.1						0	368	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.488	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			6	60	0	0	0	1	0	6	60				
COL5A3	50509	broad.mit.edu	37	19	10088375	10088375	+	Silent	SNP	G	G	T			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr19:10088375G>T	ENST00000264828.3	-	42	3106	c.3021C>A	c.(3019-3021)ggC>ggA	p.G1007G		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1007	Triple-helical 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)			CACCAGGGGAGCCCTGAGAAC	0.572																																						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.(3019-3021)ggC>ggA		collagen, type V, alpha 3																																				SO:0001819	synonymous_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10088375G>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3021C>A	19.37:g.10088375G>T							p.G1007G	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		42	3106	-			1007			Triple-helical region.		Q9NZQ6	Silent	SNP	ENST00000264828.3	37	c.3021C>A	CCDS12222.1																																																																																				0.572	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		5	11	1	0	0.000602214	1	0.000628398	5	11				
ANKRD36BP2	645784	broad.mit.edu	37	2	89084114	89084114	+	RNA	SNP	G	G	A			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr2:89084114G>A	ENST00000393525.3	+	0	576									ankyrin repeat domain 36B pseudogene 2																		TTGCTTTTCAGTGTCTTCTCA	0.313																																						ENST00000393525.3																			0																																																			0							g.chr2:89084114G>A			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89084114G>A														0	576	+									RNA	SNP	ENST00000393525.3	37																																																																																						0.313	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			5	65	0	0	0	1	0	5	65				
KIAA1614	57710	broad.mit.edu	37	1	180907822	180907822	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr1:180907822G>A	ENST00000367588.4	+	6	2948	c.2893G>A	c.(2893-2895)Gga>Aga	p.G965R	KIAA1614_ENST00000367587.1_Missense_Mutation_p.G586R	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	965	Ser-rich.									NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GACAGGGTCAGGATCTGGAGG	0.582																																						ENST00000367588.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						c.(2893-2895)Gga>Aga		KIAA1614							69.0	76.0	74.0					1																	180907822		2150	4274	6424	SO:0001583	missense	57710							g.chr1:180907822G>A	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.2893G>A	1.37:g.180907822G>A	ENSP00000356560:p.Gly965Arg					KIAA1614_ENST00000367587.1_Missense_Mutation_p.G586R	p.G965R	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN			6	2948	+			965			Ser-rich.		Q5VZ45|Q9HCF8	Missense_Mutation	SNP	ENST00000367588.4	37	c.2893G>A	CCDS41442.1	.	.	.	.	.	.	.	.	.	.	G	7.261	0.605282	0.14002	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.23147	2.49;1.92	4.6	-1.38	0.09027	.	1.213900	0.06011	N	0.649433	T	0.14485	0.0350	N	0.22421	0.69	0.25192	N	0.990126	B;B	0.09022	0.001;0.002	B;B	0.08055	0.001;0.003	T	0.32666	-0.9898	9	0.51188	T	0.08	0.306	1.2026	0.01888	0.329:0.3688:0.1216:0.1806	.	586;965	Q5VZ46-2;Q5VZ46	.;K1614_HUMAN	R	965;586	ENSP00000356560:G965R;ENSP00000356559:G586R	ENSP00000356559:G586R	G	+	1	0	KIAA1614	179174445	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	0.153000	0.16323	-0.083000	0.12618	0.561000	0.74099	GGA		0.582	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531		3	49	0	0	0	1	0	3	49				
LAMA4	3910	broad.mit.edu	37	6	112480078	112480078	+	Missense_Mutation	SNP	G	G	A	rs137893207		TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr6:112480078G>A	ENST00000230538.7	-	14	2070	c.1673C>T	c.(1672-1674)gCg>gTg	p.A558V	LAMA4_ENST00000522006.1_Missense_Mutation_p.A551V|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000389463.4_Missense_Mutation_p.A551V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A551V|RP1-142L7.5_ENST00000425503.1_RNA	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	558	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.A551V(2)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AATCCCTGACGCATTCTAAAG	0.303													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16725	0.0		0.0	False		,,,				2504	0.0					ENST00000230538.7																			2	Substitution - Missense(2)	p.A551V(2)	large_intestine(2)	NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(1672-1674)gCg>gTg		laminin, alpha 4		G	VAL/ALA,VAL/ALA,VAL/ALA	0,4404		0,0,2202	95.0	86.0	89.0		1673,1652,1652	5.7	1.0	6	dbSNP_134	89	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	LAMA4	NM_001105206.1,NM_001105207.1,NM_002290.3	64,64,64	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	558/1824,551/1817,551/1817	112480078	2,13002	2202	4300	6502	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112480078G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1673C>T	6.37:g.112480078G>A	ENSP00000230538:p.Ala558Val					LAMA4_ENST00000424408.2_Missense_Mutation_p.A551V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A551V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A551V|RP1-142L7.5_ENST00000585373.1_RNA	p.A558V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	14	2070	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	558			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.1673C>T	CCDS43491.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.996	0.754395	0.15778	0.0	2.33E-4	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.12672	2.68;2.66;2.66;2.66	5.68	5.68	0.88126	.	0.251709	0.39210	N	0.001423	T	0.02610	0.0079	N	0.12182	0.205	0.80722	D	1	B;B	0.27971	0.123;0.196	B;B	0.19148	0.008;0.024	T	0.17653	-1.0362	10	0.05959	T	0.93	.	16.695	0.85333	0.0:0.0:1.0:0.0	.	558;551	Q16363;Q16363-2	LAMA4_HUMAN;.	V	558;551;551;551	ENSP00000230538:A558V;ENSP00000429488:A551V;ENSP00000374114:A551V;ENSP00000416470:A551V	ENSP00000230538:A558V	A	-	2	0	LAMA4	112586771	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	2.197000	0.42696	2.668000	0.90789	0.591000	0.81541	GCG		0.303	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		6	21	0	0	0	1	0	6	21				
RSPH6A	81492	broad.mit.edu	37	19	46303813	46303813	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr19:46303813G>A	ENST00000221538.3	-	5	1949	c.1807C>T	c.(1807-1809)Cac>Tac	p.H603Y	RSPH6A_ENST00000597055.1_Missense_Mutation_p.H603Y|RSPH6A_ENST00000600188.1_Missense_Mutation_p.H339Y	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	603	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GGTGCCAGGTGCATGATTTCT	0.667																																						ENST00000221538.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(1807-1809)Cac>Tac		radial spoke head 6 homolog A (Chlamydomonas)							49.0	44.0	46.0					19																	46303813		2203	4298	6501	SO:0001583	missense	81492					intracellular		g.chr19:46303813G>A	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1807C>T	19.37:g.46303813G>A	ENSP00000221538:p.His603Tyr					RSPH6A_ENST00000600188.1_Missense_Mutation_p.H339Y|RSPH6A_ENST00000597055.1_Missense_Mutation_p.H603Y	p.H603Y	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN			5	1949	-			603			Glu-rich.		Q53FE2|Q6PEZ9	Missense_Mutation	SNP	ENST00000221538.3	37	c.1807C>T	CCDS12675.1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.499623	0.26861	.	.	ENSG00000104941	ENST00000221538	T	0.15952	2.38	5.03	2.81	0.32909	.	0.324218	0.36932	N	0.002324	T	0.23611	0.0571	L	0.45581	1.43	0.09310	N	1	D	0.61080	0.989	P	0.55055	0.767	T	0.05784	-1.0864	10	0.29301	T	0.29	-1.8314	10.4857	0.44719	0.0:0.0:0.6589:0.3411	.	603	Q9H0K4	RSH6A_HUMAN	Y	603	ENSP00000221538:H603Y	ENSP00000221538:H603Y	H	-	1	0	RSPH6A	50995653	0.803000	0.28956	0.844000	0.33320	0.224000	0.24922	0.527000	0.22987	0.787000	0.33731	0.555000	0.69702	CAC		0.667	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			12	36	0	0	0	1	0	12	36				
PKD2L1	9033	broad.mit.edu	37	10	102052799	102052799	+	Missense_Mutation	SNP	G	G	A	rs147248969	byFrequency	TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr10:102052799G>A	ENST00000318222.3	-	11	2168	c.1786C>T	c.(1786-1788)Cgt>Tgt	p.R596C	PKD2L1_ENST00000338519.3_Missense_Mutation_p.R521C|PKD2L1_ENST00000353274.3_Missense_Mutation_p.R596C	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	596					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)		TTCCTCAGACGCAGTCTTAGT	0.547													G|||	2	0.000399361	0.0	0.0014	5008	,	,		20027	0.0		0.001	False		,,,				2504	0.0					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.(1786-1788)Cgt>Tgt		polycystic kidney disease 2-like 1		G	CYS/ARG	0,4406		0,0,2203	125.0	104.0	111.0		1786	5.2	0.8	10	dbSNP_134	111	6,8594	5.0+/-18.6	0,6,4294	yes	missense	PKD2L1	NM_016112.2	180	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	probably-damaging	596/806	102052799	6,13000	2203	4300	6503	SO:0001583	missense	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102052799G>A	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.1786C>T	10.37:g.102052799G>A	ENSP00000325296:p.Arg596Cys					PKD2L1_ENST00000338519.3_Missense_Mutation_p.R521C|PKD2L1_ENST00000353274.3_Missense_Mutation_p.R596C	p.R596C	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	11	2168	-		Colorectal(252;0.117)	596					O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	c.1786C>T	CCDS7492.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	15.89	2.967344	0.53507	0.0	6.98E-4	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.61859	0.26;0.07;0.13	6.07	5.17	0.71159	.	0.360746	0.31976	N	0.006777	T	0.57548	0.2061	L	0.59436	1.845	0.45025	D	0.998046	D;D	0.71674	0.998;0.995	P;P	0.48677	0.517;0.586	T	0.60777	-0.7196	10	0.52906	T	0.07	-1.3826	7.9821	0.30190	0.0766:0.0:0.6774:0.246	.	549;596	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	C	521;596;596;594	ENSP00000345068:R521C;ENSP00000266049:R596C;ENSP00000325296:R596C	ENSP00000325296:R596C	R	-	1	0	PKD2L1	102042789	1.000000	0.71417	0.816000	0.32577	0.157000	0.22087	4.988000	0.63863	1.581000	0.49865	0.655000	0.94253	CGT		0.547	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		16	54	0	0	0	1	0	16	54				
IARS2	55699	broad.mit.edu	37	1	220273972	220273972	+	Silent	SNP	T	T	C			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr1:220273972T>C	ENST00000302637.5	+	3	635	c.531T>C	c.(529-531)gcT>gcC	p.A177A	IARS2_ENST00000366922.1_Silent_p.A105A	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	177					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	ATCTTTCAGCTATGGAAATTA	0.348																																						ENST00000366922.1																			0				NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(313-315)gcT>gcC		isoleucyl-tRNA synthetase 2, mitochondrial	L-Isoleucine(DB00167)						54.0	60.0	58.0					1																	220273972		2203	4300	6503	SO:0001819	synonymous_variant	55699				isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	g.chr1:220273972T>C	AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.531T>C	1.37:g.220273972T>C						IARS2_ENST00000302637.5_Silent_p.A177A	p.A105A			Q9NSE4	SYIM_HUMAN		GBM - Glioblastoma multiforme(131;0.0554)	3	646	+			177					B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Silent	SNP	ENST00000302637.5	37	c.315T>C	CCDS1523.1																																																																																				0.348	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060		19	28	0	0	0	1	0	19	28				
ATP5A1	498	broad.mit.edu	37	18	43666432	43666432	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr18:43666432T>C	ENST00000398752.6	-	9	1326	c.1205A>G	c.(1204-1206)aAa>aGa	p.K402R	ATP5A1_ENST00000593152.2_Missense_Mutation_p.K352R|ATP5A1_ENST00000282050.2_Missense_Mutation_p.K402R|ATP5A1_ENST00000590665.1_Missense_Mutation_p.K380R	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	402					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						GCGGATACCTTTGTAGAACAA	0.408																																						ENST00000593152.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						c.(1054-1056)aAa>aGa		ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle							72.0	66.0	68.0					18																	43666432		2203	4300	6503	SO:0001583	missense	498				ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr18:43666432T>C	D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	823	protein-coding gene	gene with protein product		164360	"""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2"", ""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"""	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.1205A>G	18.37:g.43666432T>C	ENSP00000381736:p.Lys402Arg					ATP5A1_ENST00000398752.6_Missense_Mutation_p.K402R|ATP5A1_ENST00000282050.2_Missense_Mutation_p.K402R|ATP5A1_ENST00000590665.1_Missense_Mutation_p.K380R	p.K352R	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN			9	1594	-			402					A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Missense_Mutation	SNP	ENST00000398752.6	37	c.1055A>G	CCDS11927.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.345062	0.61073	.	.	ENSG00000152234	ENST00000282050;ENST00000398752;ENST00000542290	T;T	0.77098	-1.07;-1.07	4.66	4.66	0.58398	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.70701	0.3254	L	0.37630	1.12	0.51233	D	0.999911	B	0.15719	0.014	B	0.28991	0.097	T	0.65450	-0.6165	10	0.26408	T	0.33	-17.2407	14.1672	0.65486	0.0:0.0:0.0:1.0	.	402	P25705	ATPA_HUMAN	R	402;402;352	ENSP00000282050:K402R;ENSP00000381736:K402R	ENSP00000282050:K402R	K	-	2	0	ATP5A1	41920430	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.037000	0.88933	1.744000	0.51775	0.456000	0.33151	AAA		0.408	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	NM_004046		10	20	0	0	0	1	0	10	20				
KRTAP4-6	81871	broad.mit.edu	37	17	39296626	39296626	+	Silent	SNP	G	G	A			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr17:39296626G>A	ENST00000345847.4	-	1	113	c.114C>T	c.(112-114)ccC>ccT	p.P38P		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	38	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						CACAGCAGCTGGGGCGGCAGC	0.667																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(112-114)ccC>ccT		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296626G>A	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.114C>T	17.37:g.39296626G>A							p.P38P	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	113	-			38			29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].		Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.114C>T	CCDS54125.1																																																																																				0.667	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			3	125	0	0	0	1	0	3	125				
NLRP12	91662	broad.mit.edu	37	19	54314362	54314362	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr19:54314362G>A	ENST00000324134.6	-	3	719	c.551C>T	c.(550-552)gCg>gTg	p.A184V	NLRP12_ENST00000354278.3_Missense_Mutation_p.A184V|NLRP12_ENST00000535162.1_Missense_Mutation_p.A184V|NLRP12_ENST00000345770.5_Missense_Mutation_p.A184V|NLRP12_ENST00000351894.4_Missense_Mutation_p.A184V|NLRP12_ENST00000391773.1_Missense_Mutation_p.A184V|NLRP12_ENST00000391772.1_Missense_Mutation_p.A184V|NLRP12_ENST00000391775.3_Missense_Mutation_p.A184V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	184					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CACGGTCCTCGCGTGTCCCCG	0.647																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(550-552)gCg>gTg		NLR family, pyrin domain containing 12							85.0	70.0	75.0					19																	54314362		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54314362G>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.551C>T	19.37:g.54314362G>A	ENSP00000319377:p.Ala184Val					NLRP12_ENST00000391773.1_Missense_Mutation_p.A184V|NLRP12_ENST00000345770.5_Missense_Mutation_p.A184V|NLRP12_ENST00000535162.1_Missense_Mutation_p.A184V|NLRP12_ENST00000391775.3_Missense_Mutation_p.A184V|NLRP12_ENST00000354278.3_Missense_Mutation_p.A184V|NLRP12_ENST00000391772.1_Missense_Mutation_p.A184V|NLRP12_ENST00000351894.4_Missense_Mutation_p.A184V	p.A184V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	719	-	Ovarian(34;0.19)		184					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.551C>T	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	G	8.202	0.798329	0.16397	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47	4.04	2.99	0.34606	.	0.569423	0.14536	N	0.313599	D	0.84329	0.5448	M	0.63843	1.955	0.09310	N	0.999999	P;P;P;P	0.52316	0.952;0.858;0.571;0.858	B;B;B;B	0.41174	0.349;0.122;0.048;0.122	T	0.74601	-0.3611	10	0.35671	T	0.21	.	5.4504	0.16563	0.1075:0.0:0.6959:0.1966	.	184;184;184;184	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	V	184	ENSP00000319377:A184V;ENSP00000438030:A184V;ENSP00000340473:A184V;ENSP00000346231:A184V;ENSP00000375655:A184V;ENSP00000375653:A184V;ENSP00000375652:A184V	ENSP00000319377:A184V	A	-	2	0	NLRP12	59006174	0.001000	0.12720	0.001000	0.08648	0.305000	0.27757	1.107000	0.31110	0.861000	0.35504	0.297000	0.19635	GCG		0.647	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		20	63	0	0	0	1	0	20	63				
POLD3	10714	broad.mit.edu	37	11	74303721	74303721	+	Nonsense_Mutation	SNP	T	T	G			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr11:74303721T>G	ENST00000263681.2	+	1	147	c.18T>G	c.(16-18)taT>taG	p.Y6*	POLD3_ENST00000532784.1_3'UTR|POLD3_ENST00000527458.1_De_novo_Start_InFrame|POLD3_ENST00000532497.1_De_novo_Start_OutOfFrame	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	6					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					ACCAGCTTTATCTGGAAAATA	0.622																																						ENST00000263681.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18						c.(16-18)taT>taG		polymerase (DNA-directed), delta 3, accessory subunit							30.0	30.0	30.0					11																	74303721		2200	4293	6493	SO:0001587	stop_gained	10714				base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding	g.chr11:74303721T>G	D26018	CCDS8233.1	11q14	2014-06-13			ENSG00000077514	ENSG00000077514		"""DNA polymerases"""	20932	protein-coding gene	gene with protein product	"""DNA polymerase delta subunit p66"", ""Pol delta C subunit (p66)"", ""protein phosphatase 1, regulatory subunit 128"""	611415				10219083	Standard	NM_006591		Approved	P66, KIAA0039, P68, PPP1R128	uc001ovf.2	Q15054	OTTHUMG00000165621	ENST00000263681.2:c.18T>G	11.37:g.74303721T>G	ENSP00000263681:p.Tyr6*					POLD3_ENST00000532497.1_De_novo_Start_OutOfFrame|POLD3_ENST00000527458.1_De_novo_Start_InFrame|POLD3_ENST00000532784.1_3'UTR	p.Y6*	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN			1	147	+	Breast(11;3.21e-06)		6					B7ZAI6|Q32MZ9|Q32N00	Nonsense_Mutation	SNP	ENST00000263681.2	37	c.18T>G	CCDS8233.1	.	.	.	.	.	.	.	.	.	.	T	37	6.436986	0.97568	.	.	ENSG00000077514	ENST00000263681;ENST00000538052	.	.	.	4.95	1.15	0.20763	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.1631	6.1859	0.20498	0.0:0.3796:0.0:0.6204	.	.	.	.	X	6	.	ENSP00000263681:Y6X	Y	+	3	2	POLD3	73981369	0.998000	0.40836	0.998000	0.56505	0.963000	0.63663	0.181000	0.16880	0.365000	0.24400	0.533000	0.62120	TAT		0.622	POLD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385376.1	NM_006591		9	11	0	0	0	1	0	9	11				
MTDH	92140	broad.mit.edu	37	8	98657100	98657100	+	Silent	SNP	G	G	A			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr8:98657100G>A	ENST00000336273.3	+	1	694	c.366G>A	c.(364-366)ctG>ctA	p.L122L	MTDH_ENST00000519934.1_Silent_p.L99L	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	122	Interaction with BCCIP.|Interaction with RELA.				lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			GGAAGAAACTGTCCGAGAAGC	0.672																																						ENST00000336273.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(364-366)ctG>ctA		metadherin							13.0	15.0	15.0					8																	98657100		1864	3765	5629	SO:0001819	synonymous_variant	92140				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	g.chr8:98657100G>A	AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.366G>A	8.37:g.98657100G>A						MTDH_ENST00000519934.1_Silent_p.L99L	p.L122L	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.178)		1	694	+	Breast(36;2.56e-06)		122			Interaction with BCCIP.|Interaction with RELA.		Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Silent	SNP	ENST00000336273.3	37	c.366G>A	CCDS6274.1	.	.	.	.	.	.	.	.	.	.	G	9.251	1.040768	0.19669	.	.	ENSG00000147649	ENST00000522313	.	.	.	5.19	-5.58	0.02512	.	.	.	.	.	T	0.20251	0.0487	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.32295	-0.9912	4	.	.	.	9.1422	4.9844	0.14182	0.0631:0.2786:0.2848:0.3736	.	.	.	.	Y	27	.	.	C	+	2	0	MTDH	98726276	0.000000	0.05858	0.002000	0.10522	0.922000	0.55478	-0.272000	0.08560	-0.696000	0.05098	0.591000	0.81541	TGT		0.672	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2			3	8	0	0	0	1	0	3	8				
FMN2	56776	broad.mit.edu	37	1	240371422	240371422	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr1:240371422G>A	ENST00000319653.9	+	5	3540	c.3310G>A	c.(3310-3312)Gga>Aga	p.G1104R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1104	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCTCTACCCGGAGTGGGCAT	0.736																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3310-3312)Gga>Aga		formin 2							8.0	10.0	10.0					1																	240371422		2044	4114	6158	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371422G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3310G>A	1.37:g.240371422G>A	ENSP00000318884:p.Gly1104Arg						p.G1104R	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3540	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1104			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.3310G>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	g	8.191	0.795945	0.16327	.	.	ENSG00000155816	ENST00000319653	T	0.67865	-0.29	3.36	3.36	0.38483	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (2);	0.000000	0.43919	U	0.000513	T	0.66499	0.2795	M	0.90483	3.12	0.20196	N	0.999922	P	0.46912	0.886	B	0.36464	0.225	T	0.68507	-0.5390	9	.	.	.	.	8.8793	0.35365	0.1079:0.0:0.8921:0.0	.	1104	Q9NZ56	FMN2_HUMAN	R	1104	ENSP00000318884:G1104R	.	G	+	1	0	FMN2	238438045	0.018000	0.18449	0.061000	0.19648	0.015000	0.08874	0.781000	0.26774	1.869000	0.54173	0.484000	0.47621	GGA		0.736	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		42	159	0	0	0	1	0	42	159				
TBC1D24	57465	broad.mit.edu	37	16	2550269	2550269	+	Splice_Site	SNP	C	C	A			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr16:2550269C>A	ENST00000293970.5	+	7	1436	c.1303C>A	c.(1303-1305)Ctg>Atg	p.L435M	TBC1D24_ENST00000567020.1_Splice_Site_p.L429M|RP11-20I23.1_ENST00000564543.1_Intron|TBC1D24_ENST00000434757.2_Splice_Site_p.L435M	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	435	TLD.				neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						TCCACCCCAGCTGCAGCCTGA	0.672																																						ENST00000567020.1																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						c.e6-1		TBC1 domain family, member 24							10.0	14.0	12.0					16																	2550269		2027	4172	6199	SO:0001630	splice_region_variant	57465				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity	g.chr16:2550269C>A	AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 6"""	613577	"""deafness, autosomal recessive 86"""	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.1303-1C>A	16.37:g.2550269C>A						TBC1D24_ENST00000434757.2_Splice_Site_p.L435_splice|RP11-20I23.1_ENST00000564543.1_Intron|TBC1D24_ENST00000293970.5_Splice_Site_p.L435_splice	p.L429_splice	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN			6	1425	+			435			TLD.		A0JNW3|B9A6M6|Q2KJ08	Splice_Site	SNP	ENST00000293970.5	37	c.1284_splice	CCDS55980.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212516	0.58452	.	.	ENSG00000162065	ENST00000293970;ENST00000434757	T	0.55760	0.5	5.36	4.4	0.53042	TLDc (2);	0.000000	0.64402	D	0.000001	T	0.54303	0.1850	L	0.52011	1.625	0.58432	D	0.999999	P;P	0.50369	0.934;0.919	P;P	0.51701	0.677;0.548	T	0.52563	-0.8559	9	.	.	.	-20.6826	9.4882	0.38942	0.0:0.8369:0.0:0.1631	.	435;429	Q9ULP9;Q9ULP9-2	TBC24_HUMAN;.	M	429;435	ENSP00000390106:L435M	.	L	+	1	2	TBC1D24	2490270	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	0.915000	0.28638	1.391000	0.46566	0.561000	0.74099	CTG		0.672	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1	NM_020705	Missense_Mutation	5	17	1	0	1	1	1	5	17				
CASZ1	54897	broad.mit.edu	37	1	10699168	10699170	+	In_Frame_Del	DEL	TCG	TCG	-			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr1:10699168_10699170delTCG	ENST00000377022.3	-	21	5426_5428	c.5109_5111delCGA	c.(5107-5112)gacgag>gag	p.D1703del	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1703	Asp-rich.|Glu-rich.				multicellular organismal development (GO:0007275)|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)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		gtcgtcgtcctcgtcgtcgtcgt	0.734																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(5107-5112)gag>ga		castor zinc finger 1				25,3049		4,17,1516						2.0	0.9			6	63,6157		5,53,3052	no	coding	CASZ1	NM_001079843.1		9,70,4568	A1A1,A1R,RR		1.0129,0.8133,0.9468				88,9206				SO:0001651	inframe_deletion	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10699168_10699170delTCG	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.5109_5111delCGA	1.37:g.10699177_10699179delTCG	ENSP00000366221:p.Asp1703del						p.DE1703del	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	21	5426_5428	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	1703			Asp-rich.|Glu-rich.		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	In_Frame_Del	DEL	ENST00000377022.3	37	c.5109_5111delCGA	CCDS41246.1																																																																																				0.734	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		2	4						2	4	---	---	---	---
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677	byFrequency	TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr2:131129929_131129934delGACGGG	ENST00000175756.5	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cagacgggg>cag	p.TG378del	PTPN18_ENST00000347849.3_In_Frame_Del_p.TG271del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	378				Missing (in Ref. 1; CAA56105). {ECO:0000305}.	peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.T378_G379delTG(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777														1724	0.344249	0.6324	0.2349	5008	,	,		12983	0.3214		0.2008	False		,,,				2504	0.2035					ENST00000175756.5																			1	Deletion - In frame(1)	p.T378_G379delTG(1)	prostate(1)	endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15						c.(1111-1119)cag>ca		protein tyrosine phosphatase, non-receptor type 18 (brain-derived)			,	1068,966		446,176,395					,	-3.8	0.0		dbSNP_132	3	951,4205		280,391,1907	no	coding,coding	PTPN18	NM_014369.3,NM_001142370.1	,	726,567,2302	A1A1,A1R,RR		18.4445,47.4926,28.0807	,	,		2019,5171				SO:0001651	inframe_deletion	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131129929_131129934delGACGGG	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.1113_1118delGACGGG	2.37:g.131129935_131129940delGACGGG	ENSP00000175756:p.Thr378_Gly379del					PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del	p.QTG371del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN			13	1214_1219	+	Colorectal(110;0.1)		371					B4E1E6|Q53P42	In_Frame_Del	DEL	ENST00000175756.5	37	c.1113_1118delGACGGG	CCDS2161.1																																																																																				0.777	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			3	4						3	4	---	---	---	---
HELQ	113510	broad.mit.edu	37	4	84375053	84375060	+	Frame_Shift_Del	DEL	TAAAGCTA	TAAAGCTA	-	rs199666920		TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr4:84375053_84375060delTAAAGCTA	ENST00000295488.3	-	2	498_505	c.336_343delTAGCTTTA	c.(334-345)gatagctttactfs	p.SFT113fs	MRPS18C_ENST00000507019.1_5'Flank|HELQ_ENST00000510985.1_Frame_Shift_Del_p.SFT113fs|HELQ_ENST00000440639.2_5'UTR|MRPS18C_ENST00000295491.4_5'Flank|MRPS18C_ENST00000507349.1_5'Flank	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	113					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						GAGTTTTCAGTAAAGCTATCATAGTCAC	0.375								Other identified genes with known or suspected DNA repair function																														ENST00000295488.3																			0				breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						c.(334-345)gactfs	Other identified genes with known or suspected DNA repair function	helicase, POLQ-like																																				SO:0001589	frameshift_variant	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84375053_84375060delTAAAGCTA	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.336_343delTAGCTTTA	4.37:g.84375053_84375060delTAAAGCTA	ENSP00000295488:p.Ser113fs					HELQ_ENST00000440639.2_5'UTR|HELQ_ENST00000510985.1_Frame_Shift_Del_p.DSFT112fs	p.DSFT112fs	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN			2	498_505	-			112					Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Frame_Shift_Del	DEL	ENST00000295488.3	37	c.336_343delTAGCTTTA	CCDS3603.1																																																																																				0.375	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		27	135						27	135	---	---	---	---
DDX60L	91351	broad.mit.edu	37	4	169325133	169325133	+	Splice_Site	DEL	A	A	-			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr4:169325133delA	ENST00000511577.1	-	25	3585	c.3338delT	c.(3337-3339)ttg>tg	p.L1113fs	DDX60L_ENST00000260184.7_Splice_Site_p.L1113fs|DDX60L_ENST00000505890.1_Splice_Site_p.L1113fs			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1113							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AGTTACTTACAAAAAAAATAT	0.274																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.e25+1		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							30.0	27.0	28.0					4																	169325133		1786	4046	5832	SO:0001630	splice_region_variant	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169325133delA	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.3338+1T>-	4.37:g.169325133delA						DDX60L_ENST00000260184.7_Splice_Site_p.L1113_splice|DDX60L_ENST00000505890.1_Splice_Site_p.L1113_splice	p.L1113_splice			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	25	3585	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1113					Q96ND6	Splice_Site	DEL	ENST00000511577.1	37	c.3338_splice																																																																																					0.274	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967	Frame_Shift_Del	3	3						3	3	---	---	---	---
PAXIP1	22976	broad.mit.edu	37	7	154782739	154782740	+	Frame_Shift_Ins	INS	-	-	A			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr7:154782739_154782740insA	ENST00000404141.1	-	4	454_455	c.300_301insT	c.(298-303)tttggafs	p.G101fs	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Frame_Shift_Ins_p.G101fs			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	101	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with PAGR1. {ECO:0000250}.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		GCAGTGATTCCAAAAAAAATCT	0.332																																						ENST00000404141.1																			0				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33						c.(298-303)ttgaatfs		PAX interacting (with transcription-activation domain) protein 1																																				SO:0001589	frameshift_variant	22976				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		g.chr7:154782739_154782740insA	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.301dupT	7.37:g.154782747_154782747dupA	ENSP00000384048:p.Gly101fs					PAXIP1_ENST00000397192.1_Frame_Shift_Ins_p.LN100fs|PAXIP1_ENST00000473219.1_5'UTR	p.LN100fs			Q6ZW49	PAXI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)	4	454_455	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	100			BRCT 2.|Interaction with PA1 (By similarity).		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Frame_Shift_Ins	INS	ENST00000404141.1	37	c.300_301insT	CCDS47753.1																																																																																				0.332	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		3	6						3	6	---	---	---	---
MAFA	389692	broad.mit.edu	37	8	144511954	144511956	+	In_Frame_Del	DEL	TGG	TGG	-	rs552049497|rs141816879		TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr8:144511954_144511956delTGG	ENST00000333480.2	-	1	620_622	c.621_623delCCA	c.(619-624)caccat>cat	p.207_208HH>H	MAFA_ENST00000528185.1_5'UTR	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	207	His-rich.				insulin secretion (GO:0030073)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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)	p.H208delH(3)		breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CGCGCCGCCAtggtggtggtggt	0.744										HNSCC(29;0.082)																												ENST00000333480.2																			3	Deletion - In frame(3)	p.H208delH(3)	upper_aerodigestive_tract(2)|breast(1)	breast(1)|lung(1)|upper_aerodigestive_tract(2)	4						c.(619-624)cat>ca		v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A																																				SO:0001651	inframe_deletion	389692				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:144511954_144511956delTGG	AY083269	CCDS34955.1	8q24.3	2013-07-09	2013-07-09			ENSG00000182759			23145	protein-coding gene	gene with protein product		610303					Standard	NM_201589		Approved	RIPE3b1, hMafA	uc003yyc.2	Q8NHW3		ENST00000333480.2:c.621_623delCCA	8.37:g.144511963_144511965delTGG	ENSP00000328364:p.His208del	HNSCC(29;0.082)				MAFA_ENST00000528185.1_5'UTR	p.HH207del	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)		1	620_622	-	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		207			His-rich.			In_Frame_Del	DEL	ENST00000333480.2	37	c.621_623delCCA	CCDS34955.1																																																																																				0.744	MAFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381511.2	NM_201589		2	4						2	4	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78593154	78593155	+	Frame_Shift_Ins	INS	-	-	T			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr12:78593154_78593155insT	ENST00000397909.2	+	37	6731_6732	c.6558_6559insT	c.(6559-6561)tttfs	p.F2187fs	NAV3_ENST00000228327.6_Frame_Shift_Ins_p.F2165fs|NAV3_ENST00000541270.1_Frame_Shift_Ins_p.F17fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.F1988fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.F2165fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2187						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						CAGTGAAAGGCTTTTTAGGCAG	0.302										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.(6556-6561)ggttttfs		neuron navigator 3																																				SO:0001589	frameshift_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78593154_78593155insT	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.6563dupT	12.37:g.78593159_78593159dupT	ENSP00000381007:p.Phe2187fs	HNSCC(70;0.22)				NAV3_ENST00000266692.7_Frame_Shift_Ins_p.GF1987fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.GF2164fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.GF2164fs|NAV3_ENST00000541270.1_Frame_Shift_Ins_p.GF16fs	p.GF2186fs			Q8IVL0	NAV3_HUMAN			37	6731_6732	+			2186					Q8NFW7|Q9Y2E7	Frame_Shift_Ins	INS	ENST00000397909.2	37	c.6558_6559insT																																																																																					0.302	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		8	92						8	92	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20086237	20086237	+	RNA	DEL	T	T	-	rs569592353|rs373441912	byFrequency	TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr14:20086237delT	ENST00000548261.1	+	0	51																											GGTGTGTGTGTGGGGGGGTAT	0.388													|||unknown(STR2?)	915	0.182708	0.2443	0.1686	5008	,	,		35626	0.1429		0.1511	False		,,,				2504	0.183					ENST00000548261.1																			0																																																			0							g.chr14:20086237delT																													14.37:g.20086237delT														0	51	+									RNA	DEL	ENST00000548261.1	37																																																																																						0.388	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			4	5						4	5	---	---	---	---
EPN2	22905	broad.mit.edu	37	17	19237548	19237548	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr17:19237548delC	ENST00000314728.5	+	11	2391	c.1907delC	c.(1906-1908)accfs	p.T636fs	EPN2_ENST00000347697.2_Frame_Shift_Del_p.T579fs|EPN2_ENST00000575595.1_Frame_Shift_Del_p.T344fs|EPN2_ENST00000571254.1_Frame_Shift_Del_p.T572fs|EPN2_ENST00000395620.2_Frame_Shift_Del_p.T579fs|EPN2_ENST00000395626.1_Intron|RP11-135L13.4_ENST00000581122.1_RNA|EPN2_ENST00000395618.3_Frame_Shift_Del_p.T351fs	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	636	3 X 3 AA repeats of N-P-F.|6 X 3 AA repeats of [DE]-P-W.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					ACTGGCACAACCAACCCTTTC	0.622																																						ENST00000314728.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19						c.(1906-1908)acfs		epsin 2							36.0	28.0	31.0					17																	19237548		2196	4277	6473	SO:0001589	frameshift_variant	22905				endocytosis		lipid binding	g.chr17:19237548delC	AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"""Eps15 binding protein"""	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.1907delC	17.37:g.19237548delC	ENSP00000320543:p.Thr636fs					EPN2_ENST00000571254.1_Frame_Shift_Del_p.T572fs|EPN2_ENST00000395620.2_Frame_Shift_Del_p.T579fs|EPN2_ENST00000395626.1_Intron|EPN2_ENST00000575595.1_Frame_Shift_Del_p.T344fs|EPN2_ENST00000395618.3_Frame_Shift_Del_p.T351fs|EPN2_ENST00000347697.2_Frame_Shift_Del_p.T579fs	p.T636fs	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN			11	2391	+	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)		636			3 X 3 AA repeats of N-P-F.|6 X 3 AA repeats of [DE]-P-W.		A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Frame_Shift_Del	DEL	ENST00000314728.5	37	c.1907delC	CCDS11203.1																																																																																				0.622	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964		2	4						2	4	---	---	---	---
