#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
KCNAB1	7881	broad.mit.edu	37	3	156181519	156181519	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr3:156181519C>T	ENST00000490337.1	+	6	575	c.511C>T	c.(511-513)Ctc>Ttc	p.L171F	KCNAB1_ENST00000389636.5_Missense_Mutation_p.L171F|KCNAB1_ENST00000302490.8_Missense_Mutation_p.L153F|KCNAB1_ENST00000471742.1_Missense_Mutation_p.L160F|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Missense_Mutation_p.L153F	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	171					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AACAACCAAACTCTACTGGGG	0.338																																						ENST00000302490.8																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(457-459)Ctc>Ttc		potassium voltage-gated channel, shaker-related subfamily, beta member 1							124.0	126.0	125.0					3																	156181519		2203	4300	6503	SO:0001583	missense	7881					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr3:156181519C>T	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.511C>T	3.37:g.156181519C>T	ENSP00000419952:p.Leu171Phe					KCNAB1_ENST00000389634.5_Missense_Mutation_p.L153F|KCNAB1_ENST00000389636.5_Missense_Mutation_p.L171F|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000490337.1_Missense_Mutation_p.L171F|KCNAB1_ENST00000471742.1_Missense_Mutation_p.L160F	p.L153F	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		6	1328	+			171					A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	ENST00000490337.1	37	c.457C>T	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.720610	0.68959	.	.	ENSG00000169282	ENST00000472028;ENST00000490337;ENST00000389636;ENST00000471742;ENST00000475456;ENST00000302490;ENST00000389634	T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73;1.73	5.85	5.85	0.93711	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.32133	0.0819	N	0.20610	0.595	0.58432	D	0.999998	P;P;P;P;P	0.48764	0.915;0.896;0.915;0.896;0.915	P;P;P;P;P	0.57468	0.821;0.66;0.77;0.66;0.821	T	0.02226	-1.1192	10	0.45353	T	0.12	-10.2769	15.6737	0.77297	0.0:1.0:0.0:0.0	.	171;153;153;160;171	B7Z8E5;F8W6W4;B3KPZ4;Q14722-3;Q14722	.;.;.;.;KCAB1_HUMAN	F	89;171;171;160;114;153;153	ENSP00000420755:L89F;ENSP00000419952:L171F;ENSP00000374287:L171F;ENSP00000418956:L160F;ENSP00000420221:L114F;ENSP00000305858:L153F;ENSP00000374285:L153F	ENSP00000305858:L153F	L	+	1	0	KCNAB1	157664213	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.358000	0.52284	2.767000	0.95098	0.557000	0.71058	CTC		0.338	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		8	29	0	0	0	1	0	8	29				
CEACAM5	1048	broad.mit.edu	37	19	42223865	42223865	+	Silent	SNP	C	C	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:42223865C>G	ENST00000221992.6	+	7	1623	c.1509C>G	c.(1507-1509)ccC>ccG	p.P503P	CEACAM5_ENST00000398599.4_Silent_p.P502P|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.P503P	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	503	Ig-like 6.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TGCCCAAGCCCTCCATCTCCA	0.532																																						ENST00000221992.6																			0				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34						c.(1507-1509)ccC>ccG		carcinoembryonic antigen-related cell adhesion molecule 5							115.0	109.0	111.0					19																	42223865		2203	4297	6500	SO:0001819	synonymous_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42223865C>G	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1509C>G	19.37:g.42223865C>G						CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.P503P|CEACAM5_ENST00000398599.4_Silent_p.P502P	p.P503P	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	7	1623	+			503			Ig-like 6.		H9KVA7	Silent	SNP	ENST00000221992.6	37	c.1509C>G	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	C	0.988	-0.695003	0.03303	.	.	ENSG00000105388	ENST00000398599	T	0.00873	5.59	2.53	0.323	0.15893	.	.	.	.	.	T	0.00845	0.0028	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.49679	-0.8914	5	.	.	.	.	5.216	0.15342	0.0:0.7295:0.0:0.2705	.	.	.	.	V	499	ENSP00000381600:L499V	.	L	+	1	0	CEACAM5	46915705	0.018000	0.18449	0.002000	0.10522	0.027000	0.11550	0.173000	0.16724	0.142000	0.18901	0.404000	0.27445	CTC		0.532	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		23	127	0	0	0	1	0	23	127				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I40T(4)	prostate(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(118-120)aTc>aCc																																						SO:0001583	missense	0							g.chr20:29625875T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T	p.I40T							5	499	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.119T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	74	0	0	0	1	0	4	74				
DROSHA	29102	broad.mit.edu	37	5	31424571	31424571	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr5:31424571C>T	ENST00000511367.2	-	27	3468	c.3224G>A	c.(3223-3225)cGc>cAc	p.R1075H	DROSHA_ENST00000513349.1_Missense_Mutation_p.R1038H|DROSHA_ENST00000344624.3_Missense_Mutation_p.R1075H|DROSHA_ENST00000442743.1_Missense_Mutation_p.R1038H	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1075	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CCAGACTTCGCGCAGGTCCTG	0.423																																						ENST00000511367.2																			0				breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(3223-3225)cGc>cAc		drosha, ribonuclease type III							105.0	106.0	105.0					5																	31424571		1940	4145	6085	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31424571C>T	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.3224G>A	5.37:g.31424571C>T	ENSP00000425979:p.Arg1075His					DROSHA_ENST00000344624.3_Missense_Mutation_p.R1075H|DROSHA_ENST00000513349.1_Missense_Mutation_p.R1038H|DROSHA_ENST00000442743.1_Missense_Mutation_p.R1038H	p.R1075H	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN			27	3468	-			1075			Necessary for interaction with DGCR8 and pri-miRNA processing activity.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.3224G>A	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.950818	0.53186	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	T;T;T;T	0.46819	1.44;1.44;0.86;0.86	5.41	5.41	0.78517	Ribonuclease III (2);	0.056790	0.64402	D	0.000003	T	0.34193	0.0889	N	0.19112	0.55	0.58432	D	0.999999	B;B	0.17852	0.024;0.017	B;B	0.17433	0.008;0.018	T	0.12372	-1.0550	10	0.13470	T	0.59	-16.8708	17.7429	0.88412	0.0:1.0:0.0:0.0	.	1038;1075	E7EMP9;Q9NRR4	.;RNC_HUMAN	H	1075;1075;1038;1038;1000;1031	ENSP00000425979:R1075H;ENSP00000339845:R1075H;ENSP00000409335:R1038H;ENSP00000424161:R1038H	ENSP00000265075:R1000H	R	-	2	0	DROSHA	31460328	1.000000	0.71417	0.966000	0.40874	0.992000	0.81027	4.861000	0.62969	2.691000	0.91804	0.650000	0.86243	CGC		0.423	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		5	13	0	0	0	1	0	5	13				
KLKB1	3818	broad.mit.edu	37	4	187179284	187179284	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr4:187179284C>A	ENST00000264690.6	+	15	2022	c.1835C>A	c.(1834-1836)aCc>aAc	p.T612N	KLKB1_ENST00000513864.1_3'UTR	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	612	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GGTGTCTACACCAAAGTCGCT	0.517																																						ENST00000264690.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40						c.(1834-1836)aCc>aAc		kallikrein B, plasma (Fletcher factor) 1							88.0	81.0	83.0					4																	187179284		2203	4300	6503	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187179284C>A	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1835C>A	4.37:g.187179284C>A	ENSP00000264690:p.Thr612Asn					KLKB1_ENST00000513864.1_3'UTR	p.T612N	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	15	2022	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	612			Peptidase S1.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.1835C>A	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.9|25.9	4.682291|4.682291	0.88542|0.88542	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000511608|ENST00000264690	.|D	.|0.95238	.|-3.65	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.|0.069765	.|0.64402	.|D	.|0.000014	D|D	0.98251|0.98251	0.9421|0.9421	H|H	0.94542|0.94542	3.55|3.55	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	D|D	0.98650|0.98650	1.0679|1.0679	5|10	.|0.87932	.|D	.|0	.|.	20.3437|20.3437	0.98782|0.98782	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|612;612	.|A8K9A9;P03952	.|.;KLKB1_HUMAN	T|N	660|612	.|ENSP00000264690:T612N	.|ENSP00000264690:T612N	P|T	+|+	1|2	0|0	KLKB1|KLKB1	187416278|187416278	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	5.995000|5.995000	0.70631|0.70631	2.802000|2.802000	0.96397|0.96397	0.563000|0.563000	0.77884|0.77884	CCA|ACC		0.517	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		24	37	1	0	2.39556e-15	1	2.83822e-15	24	37				
PEAK1	79834	broad.mit.edu	37	15	77473103	77473103	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr15:77473103C>G	ENST00000560626.2	-	4	1641	c.1166G>C	c.(1165-1167)aGt>aCt	p.S389T	PEAK1_ENST00000558305.1_Missense_Mutation_p.S389T|PEAK1_ENST00000312493.4_Missense_Mutation_p.S389T			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	389	Ser-rich.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										ACTAGAGGGACTTTCATAATT	0.413																																						ENST00000560626.2																			0											c.(1165-1167)aGt>aCt		pseudopodium-enriched atypical kinase 1							99.0	89.0	92.0					15																	77473103		1829	4080	5909	SO:0001583	missense	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77473103C>G		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.1166G>C	15.37:g.77473103C>G	ENSP00000452796:p.Ser389Thr					PEAK1_ENST00000312493.4_Missense_Mutation_p.S389T|PEAK1_ENST00000558305.1_Missense_Mutation_p.S389T	p.S389T			Q9H792	PEAK1_HUMAN			4	1641	-			389			Ser-rich.		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	c.1166G>C	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	C	1.871	-0.460244	0.04508	.	.	ENSG00000173517	ENST00000312493	T	0.70516	-0.49	5.2	1.73	0.24493	.	0.502137	0.13938	U	0.352384	T	0.52224	0.1721	N	0.19112	0.55	0.09310	N	1	B	0.19200	0.034	B	0.16722	0.016	T	0.41502	-0.9505	10	0.39692	T	0.17	-0.0119	8.0155	0.30379	0.0:0.6987:0.135:0.1663	.	389	Q9H792	PEAK1_HUMAN	T	389	ENSP00000309230:S389T	ENSP00000309230:S389T	S	-	2	0	AC087465.1	75260158	0.336000	0.24757	0.015000	0.15790	0.189000	0.23516	0.326000	0.19646	0.560000	0.29169	-0.142000	0.14014	AGT		0.413	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			9	28	0	0	0	1	0	9	28				
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	C	rs587780070		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr17:7578395G>C	ENST00000269305.4	-	5	724	c.535C>G	c.(535-537)Cat>Gat	p.H179D	TP53_ENST00000420246.2_Missense_Mutation_p.H179D|TP53_ENST00000413465.2_Missense_Mutation_p.H179D|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.H179D|TP53_ENST00000455263.2_Missense_Mutation_p.H179D|TP53_ENST00000445888.2_Missense_Mutation_p.H179D	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGCGCTCATGGTGGGGGCAG	0.642		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		197	Substitution - Missense(143)|Deletion - In frame(25)|Deletion - Frameshift(19)|Whole gene deletion(8)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)	skin(28)|upper_aerodigestive_tract(27)|large_intestine(27)|lung(27)|breast(18)|haematopoietic_and_lymphoid_tissue(11)|oesophagus(11)|central_nervous_system(8)|ovary(8)|stomach(7)|liver(7)|bone(5)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|cervix(1)|vulva(1)|eye(1)|kidney(1)|endometrium(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM067054	TP53	M		c.(535-537)Cat>Gat	Other conserved DNA damage response genes	tumor protein p53							47.0	47.0	47.0					17																	7578395		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578395G>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.535C>G	17.37:g.7578395G>C	ENSP00000269305:p.His179Asp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179D|TP53_ENST00000269305.4_Missense_Mutation_p.H179D|TP53_ENST00000359597.4_Missense_Mutation_p.H179D|TP53_ENST00000455263.2_Missense_Mutation_p.H179D|TP53_ENST00000445888.2_Missense_Mutation_p.H179D	p.H179D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	667	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.535C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013188	0.93346	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99907	-7.78;-7.78;-7.78;-7.78;-7.78;-7.78;-7.78;-7.78	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99904	0.9954	M	0.83118	2.625	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.97;1.0;0.993;1.0;0.994;1.0;0.998	D;D;D;D;D;D;D	0.97110	0.955;0.998;0.972;1.0;0.991;0.998;0.98	D	0.96140	0.9099	10	0.87932	D	0	-15.4889	17.4784	0.87667	0.0:0.0:1.0:0.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	D	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179D;ENSP00000352610:H179D;ENSP00000269305:H179D;ENSP00000398846:H179D;ENSP00000391127:H179D;ENSP00000391478:H179D;ENSP00000425104:H47D;ENSP00000423862:H86D	ENSP00000269305:H179D	H	-	1	0	TP53	7519120	1.000000	0.71417	0.990000	0.47175	0.864000	0.49448	9.813000	0.99286	2.804000	0.96469	0.655000	0.94253	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	7	0	0	0	1	0	28	7				
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	629							ion channel inhibitor activity (GO:0008200)	p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D629Y(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1885-1887)Gat>Tat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593016C>A	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1885G>T	2.37:g.96593016C>A	ENSP00000403302:p.Asp629Tyr						p.D629Y							28	1969	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	c	9.675	1.147829	0.21288	.	.	ENSG00000174501	ENST00000456556	T	0.77489	-1.1	0.578	0.578	0.17391	.	.	.	.	.	T	0.79540	0.4463	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.70428	-0.4874	6	0.72032	D	0.01	.	.	.	.	.	.	.	.	Y	629	ENSP00000403302:D629Y	ENSP00000403302:D629Y	D	-	1	0	AC073995.2	95956743	0.004000	0.15560	0.041000	0.18516	0.061000	0.15899	0.559000	0.23485	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	58	1	0	0.014758	1	0.0153202	5	58				
BRCC3	79184	broad.mit.edu	37	X	154305493	154305493	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:154305493C>T	ENST00000369462.1	+	4	269	c.244C>T	c.(244-246)Cgt>Tgt	p.R82C	BRCC3_ENST00000369459.2_Missense_Mutation_p.R82C|BRCC3_ENST00000340647.4_Missense_Mutation_p.R83C|BRCC3_ENST00000330045.7_Missense_Mutation_p.R82C|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000399042.1_Missense_Mutation_p.R82C	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	82	MPN.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|regulation of catalytic activity (GO:0050790)|response to ionizing radiation (GO:0010212)|response to X-ray (GO:0010165)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|nuclear ubiquitin ligase complex (GO:0000152)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	enzyme regulator activity (GO:0030234)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|polyubiquitin binding (GO:0031593)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CATCTTACGACGTTCTGATAA	0.413																																						ENST00000369462.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22						c.(244-246)Cgt>Tgt		BRCA1/BRCA2-containing complex, subunit 3							114.0	97.0	102.0					X																	154305493		1869	4097	5966	SO:0001583	missense	79184				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:154305493C>T	X64643	CCDS56610.1, CCDS56611.1, CCDS56612.1	Xq28	2013-05-29	2005-11-21	2005-11-21	ENSG00000185515	ENSG00000185515			24185	protein-coding gene	gene with protein product	"""Lys-63-specific deubiquitinase"""	300617	"""chromosome X open reading frame 53"""	CXorf53		1303175, 14636569	Standard	NM_024332		Approved	C6.1A, BRCC36	uc004fna.3	P46736	OTTHUMG00000022658	ENST00000369462.1:c.244C>T	X.37:g.154305493C>T	ENSP00000358474:p.Arg82Cys					BRCC3_ENST00000369459.2_Missense_Mutation_p.R82C|BRCC3_ENST00000340647.4_Missense_Mutation_p.R83C|BRCC3_ENST00000330045.7_Missense_Mutation_p.R82C|BRCC3_ENST00000399042.1_Missense_Mutation_p.R82C|MTCP1_ENST00000362018.2_Intron	p.R82C	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN			4	269	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		82					A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Missense_Mutation	SNP	ENST00000369462.1	37	c.244C>T	CCDS56611.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674722	0.67928	.	.	ENSG00000185515	ENST00000340647;ENST00000330045;ENST00000369459;ENST00000369462;ENST00000411985;ENST00000399042;ENST00000457026;ENST00000399026	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.68265	0.2982	M	0.90595	3.13	0.80722	D	1	B;B;B	0.32717	0.381;0.131;0.296	B;B;B	0.27500	0.067;0.023;0.08	T	0.74497	-0.3646	10	0.66056	D	0.02	-13.3793	15.2839	0.73814	0.0:1.0:0.0:0.0	.	83;82;82	P46736-3;P46736-2;P46736	.;.;BRCC3_HUMAN	C	83;82;82;82;58;82;82;24	ENSP00000344103:R83C;ENSP00000328641:R82C;ENSP00000358471:R82C;ENSP00000358474:R82C;ENSP00000413170:R58C;ENSP00000381998:R82C;ENSP00000381988:R24C	ENSP00000328641:R82C	R	+	1	0	BRCC3	153958687	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.164000	0.58190	2.287000	0.76781	0.523000	0.50628	CGT		0.413	BRCC3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058788.4	NM_024332		49	39	0	0	0	1	0	49	39				
PPP2R1A	5518	broad.mit.edu	37	19	52719088	52719088	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:52719088G>T	ENST00000322088.6	+	7	922	c.864G>T	c.(862-864)caG>caT	p.Q288H	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.Q233H|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.Q109H	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	288	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		ctgccttccagaacCTGATGA	0.612			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		0				NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(862-864)caG>caT		protein phosphatase 2, regulatory subunit A, alpha							69.0	65.0	67.0					19																	52719088		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52719088G>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.864G>T	19.37:g.52719088G>T	ENSP00000324804:p.Gln288His					PPP2R1A_ENST00000462990.1_Missense_Mutation_p.Q109H|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.Q233H	p.Q288H	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	7	922	+			288			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.864G>T	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464481	0.43736	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.06371	3.31;3.31	4.67	3.64	0.41730	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000013	T	0.08044	0.0201	M	0.67953	2.075	0.54753	D	0.99998	B;B;B	0.28439	0.212;0.039;0.039	B;B;B	0.25987	0.065;0.018;0.018	T	0.09997	-1.0649	10	0.42905	T	0.14	-12.9349	7.338	0.26621	0.1931:0.0:0.8069:0.0	.	233;288;288	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	H	278;208;288;233	ENSP00000324804:Q288H;ENSP00000415067:Q233H	ENSP00000324804:Q288H	Q	+	3	2	PPP2R1A	57410900	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.799000	0.62517	1.336000	0.45506	0.655000	0.94253	CAG		0.612	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		16	60	1	0	4.7546e-09	1	5.51332e-09	16	60				
FCRL1	115350	broad.mit.edu	37	1	157771352	157771352	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr1:157771352C>T	ENST00000368176.3	-	6	969	c.902G>A	c.(901-903)aGa>aAa	p.R301K	FCRL1_ENST00000489998.1_Intron|FCRL1_ENST00000358292.3_Intron|FCRL1_ENST00000491942.1_Missense_Mutation_p.R301K	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ATGATTGCTTCTGGCCCCAGT	0.532																																					GBM(54;482 1003 11223 30131 35730)	ENST00000368176.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42						c.(901-903)aGa>aAa		Fc receptor-like 1							72.0	73.0	73.0					1																	157771352		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157771352C>T	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.902G>A	1.37:g.157771352C>T	ENSP00000357158:p.Arg301Lys					FCRL1_ENST00000358292.3_Intron|FCRL1_ENST00000489998.1_Intron|FCRL1_ENST00000491942.1_Missense_Mutation_p.R301K	p.R301K	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		6	969	-	all_hematologic(112;0.0378)		301					B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.902G>A	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670297	0.47677	.	.	ENSG00000163534	ENST00000368176;ENST00000491942	T;T	0.39406	1.08;1.1	5.03	-0.158	0.13383	.	1.577880	0.03547	N	0.224827	T	0.20780	0.0500	L	0.48218	1.51	0.09310	N	1	D;B	0.57899	0.981;0.005	P;B	0.54759	0.76;0.007	T	0.21965	-1.0230	10	0.06099	T	0.92	.	4.2557	0.10715	0.0:0.3951:0.3288:0.2761	.	301;301	Q96LA6-2;Q96LA6	.;FCRL1_HUMAN	K	301	ENSP00000357158:R301K;ENSP00000418130:R301K	ENSP00000357158:R301K	R	-	2	0	FCRL1	156037976	0.000000	0.05858	0.008000	0.14137	0.003000	0.03518	0.012000	0.13287	0.093000	0.17368	-0.878000	0.02970	AGA		0.532	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		12	52	0	0	0	1	0	12	52				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	64	0	0	0	1	0	5	64				
GALNT3	2591	broad.mit.edu	37	2	166615897	166615897	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:166615897G>C	ENST00000392701.3	-	5	1797	c.1022C>G	c.(1021-1023)tCg>tGg	p.S341W	GALNT3_ENST00000409882.1_Missense_Mutation_p.S79W	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	341					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						ATCAGGAAGCGACTCCCAGCC	0.388																																						ENST00000392701.3																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						c.(1021-1023)tCg>tGg		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)							94.0	89.0	91.0					2																	166615897		2203	4300	6503	SO:0001583	missense	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166615897G>C		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4125	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 3"""	601756	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"""			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.1022C>G	2.37:g.166615897G>C	ENSP00000376465:p.Ser341Trp					GALNT3_ENST00000409882.1_Missense_Mutation_p.S79W	p.S341W	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN			5	1797	-			341					Q53TG9|Q7Z476	Missense_Mutation	SNP	ENST00000392701.3	37	c.1022C>G	CCDS2226.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466292	0.84425	.	.	ENSG00000115339	ENST00000392701;ENST00000409882;ENST00000412248	T;T;T	0.59502	0.26;0.26;0.26	5.56	5.56	0.83823	Glycosyl transferase, family 2 (1);	0.263016	0.39341	N	0.001387	T	0.58352	0.2116	L	0.49350	1.555	0.80722	D	1	B	0.18461	0.028	B	0.26416	0.069	T	0.56335	-0.7996	10	0.66056	D	0.02	.	19.5324	0.95234	0.0:0.0:1.0:0.0	.	341	Q14435	GALT3_HUMAN	W	341;79;341	ENSP00000376465:S341W;ENSP00000386955:S79W;ENSP00000412643:S341W	ENSP00000376465:S341W	S	-	2	0	GALNT3	166324143	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	3.274000	0.51631	2.609000	0.88269	0.563000	0.77884	TCG		0.388	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482		4	26	0	0	0	1	0	4	26				
IFIT1	3434	broad.mit.edu	37	10	91162764	91162764	+	Silent	SNP	A	A	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr10:91162764A>G	ENST00000371804.3	+	2	899	c.732A>G	c.(730-732)ctA>ctG	p.L244L	IFIT1_ENST00000546318.1_Silent_p.L213L|LIPA_ENST00000371837.1_Intron	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	244					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						AAGAAGCTCTAGCCAACATGT	0.418																																						ENST00000546318.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(637-639)ctA>ctG		interferon-induced protein with tetratricopeptide repeats 1							145.0	146.0	145.0					10																	91162764		2203	4300	6503	SO:0001819	synonymous_variant	3434				cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding	g.chr10:91162764A>G	M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"""Tetratricopeptide (TTC) repeat domain containing"""	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.732A>G	10.37:g.91162764A>G						LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000371804.3_Silent_p.L244L	p.L213L	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN			2	1926	+			244					B3KS50|D3DR31|Q5T7J1|Q96QM5	Silent	SNP	ENST00000371804.3	37	c.639A>G	CCDS31243.1																																																																																				0.418	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548		102	62	0	0	0	1	0	102	62				
FAM160B1	57700	broad.mit.edu	37	10	116606948	116606948	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr10:116606948C>G	ENST00000369248.4	+	12	2003	c.1668C>G	c.(1666-1668)caC>caG	p.H556Q	FAM160B1_ENST00000369250.3_Missense_Mutation_p.H556Q	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	556										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						CTCCAGACCACCCCAAAAATG	0.353																																						ENST00000369248.4																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						c.(1666-1668)caC>caG		family with sequence similarity 160, member B1							75.0	77.0	76.0					10																	116606948		2203	4300	6503	SO:0001583	missense	57700							g.chr10:116606948C>G	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.1668C>G	10.37:g.116606948C>G	ENSP00000358251:p.His556Gln					FAM160B1_ENST00000369250.3_Missense_Mutation_p.H556Q	p.H556Q	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN			12	2003	+			556					Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	ENST00000369248.4	37	c.1668C>G	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.295119	0.23564	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	T;T	0.64803	-0.12;-0.12	5.79	1.86	0.25419	.	0.084390	0.85682	D	0.000000	T	0.48059	0.1479	L	0.44542	1.39	0.80722	D	1	B;B	0.21381	0.032;0.055	B;B	0.30251	0.113;0.012	T	0.17531	-1.0366	10	0.12430	T	0.62	-11.3824	6.8539	0.24030	0.0:0.4772:0.0:0.5228	.	556;556	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	Q	556	ENSP00000358251:H556Q;ENSP00000358253:H556Q	ENSP00000358251:H556Q	H	+	3	2	FAM160B1	116596938	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.876000	0.28092	0.800000	0.34041	0.644000	0.83932	CAC		0.353	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351		3	22	0	0	0	1	0	3	22				
MAN2A2	4122	broad.mit.edu	37	15	91447499	91447499	+	Missense_Mutation	SNP	C	C	G	rs560640558		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr15:91447499C>G	ENST00000559717.1	+	2	521	c.62C>G	c.(61-63)tCg>tGg	p.S21W	MAN2A2_ENST00000360468.3_Missense_Mutation_p.S21W			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	21					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCAGTCTTCTCGCTCTACCTC	0.557																																						ENST00000360468.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(61-63)tCg>tGg		mannosidase, alpha, class 2A, member 2							187.0	170.0	176.0					15																	91447499		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91447499C>G	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.62C>G	15.37:g.91447499C>G	ENSP00000452948:p.Ser21Trp					MAN2A2_ENST00000559717.1_Missense_Mutation_p.S21W	p.S21W	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	Lung(145;0.229)		1	80	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		21					A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.62C>G	CCDS32332.1	.	.	.	.	.	.	.	.	.	.	C	35	5.524358	0.96431	.	.	ENSG00000196547	ENST00000360468	T	0.79845	-1.31	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.88496	0.6452	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.86872	0.2036	10	0.39692	T	0.17	-17.8789	18.5822	0.91176	0.0:1.0:0.0:0.0	.	21;21	P49641-1;P49641	.;MA2A2_HUMAN	W	21	ENSP00000353655:S21W	ENSP00000353655:S21W	S	+	2	0	MAN2A2	89248503	1.000000	0.71417	0.960000	0.40013	0.979000	0.70002	7.322000	0.79097	2.678000	0.91216	0.555000	0.69702	TCG		0.557	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		25	44	0	0	0	1	0	25	44				
SART1	9092	broad.mit.edu	37	11	65729347	65729347	+	Silent	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr11:65729347C>T	ENST00000312397.5	+	1	188	c.96C>T	c.(94-96)caC>caT	p.H32H	TSGA10IP_ENST00000532620.1_RNA|SART1_ENST00000528573.1_3'UTR|TSGA10IP_ENST00000608857.1_RNA	NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	32					cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						cgccgcggcaccgggaacaca	0.721																																						ENST00000312397.5																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(94-96)caC>caT		squamous cell carcinoma antigen recognized by T cells							8.0	12.0	11.0					11																	65729347		2019	3847	5866	SO:0001819	synonymous_variant	9092				cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol		g.chr11:65729347C>T	AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"""	605941	"""squamous cell carcinoma antigen recognised by T cells"""			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.96C>T	11.37:g.65729347C>T						SART1_ENST00000528573.1_3'UTR	p.H32H	NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN			1	188	+			32					A6NDN1|Q53GB5	Silent	SNP	ENST00000312397.5	37	c.96C>T	CCDS31611.1																																																																																				0.721	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391409.1			3	9	0	0	0	1	0	3	9				
SMARCA2	6595	broad.mit.edu	37	9	2054608	2054608	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr9:2054608G>A	ENST00000382203.1	+	6	1267	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H	SMARCA2_ENST00000349721.2_Missense_Mutation_p.R353H|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R353H|SMARCA2_ENST00000382194.1_Missense_Mutation_p.R353H			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	353					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CTTCAGGCCCGCATAGCTCAT	0.398																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(1057-1059)cGc>cAc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							94.0	106.0	102.0					9																	2054608		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2054608G>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.1058G>A	9.37:g.2054608G>A	ENSP00000371638:p.Arg353His					SMARCA2_ENST00000382194.1_Missense_Mutation_p.R353H|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R353H|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R353H	p.R353H			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	6	1267	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	353					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.1058G>A	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474608	0.84640	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000382203;ENST00000382194	D;D;T;D;D	0.89196	-2.47;-2.48;2.56;-2.47;-2.48	5.93	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.89199	0.6647	M	0.78916	2.43	0.80722	D	1	B;B	0.13594	0.006;0.008	B;B	0.11329	0.006;0.004	D	0.86851	0.2023	10	0.87932	D	0	-12.7474	15.092	0.72201	0.0677:0.0:0.9323:0.0	.	353;353	P51531-2;P51531	.;SMCA2_HUMAN	H	353	ENSP00000265773:R353H;ENSP00000349788:R353H;ENSP00000392081:R353H;ENSP00000371638:R353H;ENSP00000371629:R353H	ENSP00000265773:R353H	R	+	2	0	SMARCA2	2044608	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	9.813000	0.99286	1.530000	0.49136	-0.229000	0.12294	CGC		0.398	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		4	76	0	0	0	1	0	4	76				
SCAF1	58506	broad.mit.edu	37	19	50154615	50154615	+	Silent	SNP	C	C	T	rs372506690		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:50154615C>T	ENST00000360565.3	+	7	1093	c.969C>T	c.(967-969)gaC>gaT	p.D323D		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	323					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CCCGCCCGGACGCGCAGCCCA	0.697													C|||	1	0.000199681	0.0	0.0	5008	,	,		7646	0.001		0.0	False		,,,				2504	0.0					ENST00000360565.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(967-969)gaC>gaT		SR-related CTD-associated factor 1							18.0	19.0	19.0					19																	50154615		2198	4295	6493	SO:0001819	synonymous_variant	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50154615C>T	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.969C>T	19.37:g.50154615C>T							p.D323D	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	7	1093	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	323					Q7Z5V7|Q8WVA1|Q9NR59	Silent	SNP	ENST00000360565.3	37	c.969C>T	CCDS33074.1																																																																																				0.697	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		13	8	0	0	0	1	0	13	8				
NPNT	255743	broad.mit.edu	37	4	106863781	106863781	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr4:106863781G>T	ENST00000379987.2	+	8	1297	c.1081G>T	c.(1081-1083)Gcc>Tcc	p.A361S	NPNT_ENST00000453617.2_Missense_Mutation_p.A378S|NPNT_ENST00000305572.8_Missense_Mutation_p.A361S|NPNT_ENST00000427316.2_Missense_Mutation_p.A391S|NPNT_ENST00000506666.1_Missense_Mutation_p.A391S|NPNT_ENST00000514622.1_Missense_Mutation_p.A361S	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	361	Pro-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AGCACCAGCTGCCAGTACACC	0.517																																						ENST00000379987.2																			0				kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(1081-1083)Gcc>Tcc		nephronectin							108.0	102.0	104.0					4																	106863781		2203	4300	6503	SO:0001583	missense	255743				cell differentiation	membrane	calcium ion binding	g.chr4:106863781G>T		CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.1081G>T	4.37:g.106863781G>T	ENSP00000369323:p.Ala361Ser					NPNT_ENST00000305572.8_Missense_Mutation_p.A361S|NPNT_ENST00000506666.1_Missense_Mutation_p.A391S|NPNT_ENST00000453617.2_Missense_Mutation_p.A378S|NPNT_ENST00000514622.1_Missense_Mutation_p.A361S|NPNT_ENST00000427316.2_Missense_Mutation_p.A391S	p.A361S	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)	8	1297	+		Hepatocellular(203;0.217)	361			Pro-rich.		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Missense_Mutation	SNP	ENST00000379987.2	37	c.1081G>T	CCDS34046.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.282|0.282	-0.985616|-0.985616	0.02180|0.02180	.|.	.|.	ENSG00000168743|ENSG00000168743	ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451|ENST00000514837	T;T;T;T;T;T;T|.	0.78924|.	-0.78;-1.14;-0.87;-1.22;-0.85;-0.89;-0.02|.	5.2|5.2	2.05|2.05	0.26809|0.26809	.|.	0.819483|.	0.11244|.	N|.	0.584320|.	T|T	0.21103|0.21103	0.0508|0.0508	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B;B|.	0.21381|.	0.008;0.044;0.044;0.044;0.055;0.013;0.044|.	B;B;B;B;B;B;B|.	0.21917|.	0.01;0.024;0.014;0.014;0.02;0.037;0.014|.	T|T	0.26292|0.26292	-1.0107|-1.0107	10|5	0.07030|.	T|.	0.85|.	.|.	8.0827|8.0827	0.30754|0.30754	0.3036:0.0:0.6964:0.0|0.3036:0.0:0.6964:0.0	.|.	361;391;391;378;408;361;361|.	E9PF04;E9PE64;E9PCQ1;E9PCK8;D6RH31;Q6UXI9-2;Q6UXI9|.	.;.;.;.;.;.;NPNT_HUMAN|.	S|F	361;378;391;361;361;391;408|337	ENSP00000369323:A361S;ENSP00000402884:A378S;ENSP00000389252:A391S;ENSP00000422044:A361S;ENSP00000302557:A361S;ENSP00000422474:A391S;ENSP00000426146:A408S|.	ENSP00000302557:A361S|.	A|C	+|+	1|2	0|0	NPNT|NPNT	107083230|107083230	0.012000|0.012000	0.17670|0.17670	0.017000|0.017000	0.16124|0.16124	0.108000|0.108000	0.19459|0.19459	0.550000|0.550000	0.23345|0.23345	0.048000|0.048000	0.15891|0.15891	0.555000|0.555000	0.69702|0.69702	GCC|TGC		0.517	NPNT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364083.1	NM_198278		13	84	1	0	9.31168e-06	1	1.04636e-05	13	84				
SVILP1	645954	broad.mit.edu	37	10	30984944	30984944	+	RNA	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr10:30984944C>T	ENST00000435645.1	+	0	232									supervillin pseudogene 1																		GTCAACCTGACGGAACAGAAC	0.547																																						ENST00000435645.1																			0																																																			0							g.chr10:30984944C>T			10p11.23	2012-12-20			ENSG00000234814	ENSG00000234814			44959	pseudogene	pseudogene							Standard	NR_036438		Approved				OTTHUMG00000017900		10.37:g.30984944C>T														0	232	+									RNA	SNP	ENST00000435645.1	37																																																																																						0.547	SVILP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331601.1			3	25	0	0	0	1	0	3	25				
KIAA1551	55196	broad.mit.edu	37	12	32135825	32135825	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr12:32135825G>A	ENST00000312561.4	+	4	2350	c.1936G>A	c.(1936-1938)Gac>Aac	p.D646N	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	646																	CAGGGTTTTGGACAACTCCTT	0.418																																						ENST00000312561.4																			0											c.(1936-1938)Gac>Aac		KIAA1551							67.0	64.0	65.0					12																	32135825		2203	4299	6502	SO:0001583	missense	55196							g.chr12:32135825G>A	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1936G>A	12.37:g.32135825G>A	ENSP00000310338:p.Asp646Asn					KIAA1551_ENST00000535596.1_Intron	p.D646N	NM_018169.3	NP_060639.3					4	2350	+								B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.1936G>A	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123395	0.56613	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.08546	3.69;3.08	4.43	1.47	0.22746	.	1.143760	0.06692	N	0.769947	T	0.06645	0.0170	L	0.29908	0.895	0.09310	N	1	B	0.24882	0.113	B	0.21917	0.037	T	0.44559	-0.9320	9	.	.	.	.	5.5845	0.17267	0.1832:0.1628:0.654:0.0	.	646	Q9HCM1	CL035_HUMAN	N	646	ENSP00000310338:D646N;ENSP00000370442:D646N	.	D	+	1	0	C12orf35	32027092	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.267000	0.18552	0.286000	0.22352	0.563000	0.77884	GAC		0.418	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		11	56	0	0	0	1	0	11	56				
CCDC37	348807	broad.mit.edu	37	3	126132950	126132950	+	Silent	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr3:126132950G>A	ENST00000352312.1	+	4	252	c.153G>A	c.(151-153)gcG>gcA	p.A51A	CCDC37_ENST00000393425.1_Silent_p.A51A|CCDC37_ENST00000510833.1_Silent_p.A51A|CCDC37_ENST00000505024.1_Silent_p.A51A	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	51										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		ACCCTTCAGCGAACCCTTTCC	0.572																																						ENST00000393425.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23						c.(151-153)gcG>gcA		coiled-coil domain containing 37							274.0	275.0	275.0					3																	126132950		2203	4300	6503	SO:0001819	synonymous_variant	348807							g.chr3:126132950G>A	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.153G>A	3.37:g.126132950G>A						CCDC37_ENST00000510833.1_Silent_p.A51A|CCDC37_ENST00000505024.1_Silent_p.A51A|CCDC37_ENST00000352312.1_Silent_p.A51A	p.A51A			Q494V2	CCD37_HUMAN		GBM - Glioblastoma multiforme(114;0.166)	4	252	+			51					D3DNA8|Q494V1|Q494V4|Q8N838	Silent	SNP	ENST00000352312.1	37	c.153G>A	CCDS3037.1																																																																																				0.572	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000370099.4	NM_182628		61	119	0	0	0	1	0	61	119				
SNED1	25992	broad.mit.edu	37	2	242021733	242021733	+	Missense_Mutation	SNP	G	G	A	rs572761965	byFrequency	TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:242021733G>A	ENST00000310397.8	+	29	4075	c.4075G>A	c.(4075-4077)Gag>Aag	p.E1359K	SNED1_ENST00000342631.6_Missense_Mutation_p.E1326K|SNED1_ENST00000405547.3_Missense_Mutation_p.E1326K|MTERFD2_ENST00000464344.2_Intron	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1359					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GCTGTTCTCCGAGACAAAGGC	0.582													G|||	3	0.000599042	0.0023	0.0	5008	,	,		18593	0.0		0.0	False		,,,				2504	0.0					ENST00000310397.8																			0				NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24						c.(4075-4077)Gag>Aag		sushi, nidogen and EGF-like domains 1							196.0	211.0	206.0					2																	242021733		2030	4189	6219	SO:0001583	missense	25992				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr2:242021733G>A	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.4075G>A	2.37:g.242021733G>A	ENSP00000308893:p.Glu1359Lys					SNED1_ENST00000405547.3_Missense_Mutation_p.E1326K|SNED1_ENST00000342631.6_Missense_Mutation_p.E1326K	p.E1359K	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)	29	4075	+		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	1359					B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	c.4075G>A	CCDS46562.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148212	0.78001	.	.	ENSG00000162804	ENST00000405547;ENST00000310397;ENST00000342631	D;D;D	0.89939	-2.11;-1.86;-2.59	4.48	4.48	0.54585	.	0.000000	0.43579	D	0.000559	D	0.91938	0.7447	L	0.47190	1.495	0.39625	D	0.970089	D;D	0.89917	0.999;1.0	D;D	0.87578	0.97;0.998	D	0.93159	0.6556	10	0.72032	D	0.01	.	13.8813	0.63684	0.0:0.0:1.0:0.0	.	1326;1359	B5MEF5;Q8TER0	.;SNED1_HUMAN	K	1326;1359;1326	ENSP00000386007:E1326K;ENSP00000308893:E1359K;ENSP00000342992:E1326K	ENSP00000308893:E1359K	E	+	1	0	SNED1	241670406	1.000000	0.71417	0.951000	0.38953	0.716000	0.41182	6.756000	0.74919	2.049000	0.60858	0.462000	0.41574	GAG		0.582	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		37	63	0	0	0	1	0	37	63				
MMP2	4313	broad.mit.edu	37	16	55523609	55523609	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr16:55523609C>A	ENST00000219070.4	+	7	1562	c.1053C>A	c.(1051-1053)ttC>ttA	p.F351L	MMP2_ENST00000570308.1_Missense_Mutation_p.F275L|MMP2_ENST00000437642.2_Missense_Mutation_p.F301L|MMP2_ENST00000543485.1_Missense_Mutation_p.F275L	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	351	Collagen-binding.|Fibronectin type-II 3. {ECO:0000255|PROSITE-ProRule:PRU00479}.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	CCTGTGTCTTCCCCTTCACTT	0.577																																						ENST00000219070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1051-1053)ttC>ttA		matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	Marimastat(DB00786)|Sulindac(DB00605)						127.0	124.0	125.0					16																	55523609		2198	4300	6498	SO:0001583	missense	0				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55523609C>A		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1053C>A	16.37:g.55523609C>A	ENSP00000219070:p.Phe351Leu					MMP2_ENST00000570308.1_Missense_Mutation_p.F275L|MMP2_ENST00000543485.1_Missense_Mutation_p.F275L|MMP2_ENST00000437642.2_Missense_Mutation_p.F301L	p.F351L	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	7	1562	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	351			Collagen-binding.|Fibronectin type-II 3.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	c.1053C>A	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079539	0.76528	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.70516	-0.49;-0.49;-0.49	4.91	3.94	0.45596	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.049905	0.85682	N	0.000000	T	0.81936	0.4928	M	0.85462	2.755	0.80722	D	1	D;P	0.76494	0.999;0.935	D;P	0.69307	0.963;0.691	T	0.82456	-0.0448	10	0.52906	T	0.07	.	7.9394	0.29950	0.0:0.765:0.0:0.235	.	301;351	E9PE45;P08253	.;MMP2_HUMAN	L	351;275;301	ENSP00000219070:F351L;ENSP00000444143:F275L;ENSP00000394237:F301L	ENSP00000219070:F351L	F	+	3	2	MMP2	54081110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.722000	0.25925	2.423000	0.82170	0.655000	0.94253	TTC		0.577	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			28	49	1	0	2.44723e-14	1	2.86826e-14	28	49				
CNPY1	285888	broad.mit.edu	37	7	155301672	155301672	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr7:155301672C>A	ENST00000321736.5	-	2	223	c.61G>T	c.(61-63)Gct>Tct	p.A21S	CNPY1_ENST00000406197.1_Missense_Mutation_p.A21S|AC008060.5_ENST00000415333.1_RNA	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1	21								p.A21T(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TTCCTAGGAGCGAATCTCTTG	0.403																																						ENST00000321736.5																			1	Substitution - Missense(1)	p.A21T(1)	large_intestine(1)	breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8						c.(61-63)Gct>Tct		canopy FGF signaling regulator 1							79.0	77.0	78.0					7																	155301672		1807	4076	5883	SO:0001583	missense	285888							g.chr7:155301672C>A		CCDS43684.1	7q36.3	2014-02-12	2013-07-23		ENSG00000146910	ENSG00000146910			27786	protein-coding gene	gene with protein product		612493	"""canopy 1 homolog (zebrafish)"""			16488878	Standard	NM_001103176		Approved		uc003wmc.1	Q3B7I2	OTTHUMG00000151353	ENST00000321736.5:c.61G>T	7.37:g.155301672C>A	ENSP00000317439:p.Ala21Ser					CNPY1_ENST00000406197.1_Missense_Mutation_p.A21S	p.A21S	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	2	223	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	21					A6NGX3	Missense_Mutation	SNP	ENST00000321736.5	37	c.61G>T	CCDS43684.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648637	0.67358	.	.	ENSG00000146910	ENST00000406197;ENST00000321736	T;T	0.33865	1.39;1.39	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.56863	0.2014	.	.	.	0.41089	D	0.985587	D	0.67145	0.996	D	0.66979	0.948	T	0.61705	-0.7008	9	0.66056	D	0.02	-18.8207	11.9379	0.52884	0.0:0.9084:0.0:0.0916	.	21	Q3B7I2	CNPY1_HUMAN	S	21	ENSP00000384514:A21S;ENSP00000317439:A21S	ENSP00000317439:A21S	A	-	1	0	CNPY1	154994433	1.000000	0.71417	0.641000	0.29422	0.676000	0.39594	3.272000	0.51616	2.240000	0.73641	0.557000	0.71058	GCT		0.403	CNPY1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322335.1	XM_001129537		6	18	1	0	0.0215528	1	0.0221627	6	18				
CDK10	8558	broad.mit.edu	37	16	89762026	89762026	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr16:89762026A>C	ENST00000353379.7	+	13	1052	c.1009A>C	c.(1009-1011)Acc>Ccc	p.T337P	CDK10_ENST00000331006.8_Missense_Mutation_p.T290P|CDK10_ENST00000505473.1_Intron	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	337					negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		GCTCATGCCGACCTTTCCCCA	0.672																																						ENST00000331006.8																			0				ovary(1)	1						c.(868-870)Acc>Ccc		cyclin-dependent kinase 10							20.0	26.0	24.0					16																	89762026		2191	4295	6486	SO:0001583	missense	8558				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr16:89762026A>C	L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"""Cyclin-dependent kinases"""	1770	protein-coding gene	gene with protein product		603464	"""cyclin-dependent kinase (CDC2-like) 10"""			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.1009A>C	16.37:g.89762026A>C	ENSP00000338673:p.Thr337Pro					CDK10_ENST00000505473.1_Intron|CDK10_ENST00000353379.7_Missense_Mutation_p.T337P	p.T290P			Q15131	CDK10_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0276)	12	2609	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	337			Protein kinase.		A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Missense_Mutation	SNP	ENST00000353379.7	37	c.868A>C	CCDS10984.2	.	.	.	.	.	.	.	.	.	.	A	31	5.089272	0.94100	.	.	ENSG00000185324	ENST00000331006;ENST00000353379	T;T	0.72167	-0.63;-0.57	4.8	4.8	0.61643	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.74726	0.3754	L	0.27053	0.805	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.71184	0.955;0.972	T	0.78612	-0.2136	10	0.87932	D	0	-36.612	14.3347	0.66581	1.0:0.0:0.0:0.0	.	337;260	Q15131;Q15131-3	CDK10_HUMAN;.	P	290;337	ENSP00000329957:T290P;ENSP00000338673:T337P	ENSP00000329957:T290P	T	+	1	0	CDK10	88289527	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.623000	0.67757	1.789000	0.52484	0.455000	0.32223	ACC		0.672	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269925.2			5	9	0	0	0	1	0	5	9				
WDR13	64743	broad.mit.edu	37	X	48458098	48458098	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:48458098T>A	ENST00000218056.5	+	4	1021	c.516T>A	c.(514-516)gaT>gaA	p.D172E	WDR13_ENST00000376729.5_Missense_Mutation_p.D172E|WDR13_ENST00000492715.1_3'UTR	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	172						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						AGCACGTGGATGAGGCAGGTG	0.572																																						ENST00000218056.5																			0				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						c.(514-516)gaT>gaA		WD repeat domain 13							85.0	73.0	77.0					X																	48458098		2203	4300	6503	SO:0001583	missense	64743					cytoplasm|nucleus		g.chrX:48458098T>A	AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"""WD repeat domain containing"""	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.516T>A	X.37:g.48458098T>A	ENSP00000218056:p.Asp172Glu					WDR13_ENST00000492715.1_3'UTR	p.D172E	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	Q9H1Z4	WDR13_HUMAN			4	1021	+			172					Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Missense_Mutation	SNP	ENST00000218056.5	37	c.516T>A	CCDS14302.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.963931	0.53507	.	.	ENSG00000101940	ENST00000376729;ENST00000218056	T;T	0.72725	-0.68;-0.68	5.35	2.89	0.33648	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60274	0.2256	L	0.54323	1.7	0.47778	D	0.999516	B;B	0.22480	0.07;0.033	B;B	0.22386	0.039;0.029	T	0.47947	-0.9077	10	0.25106	T	0.35	-8.3791	6.7233	0.23342	0.0:0.2843:0.0:0.7157	.	50;172	B4DVQ7;Q9H1Z4	.;WDR13_HUMAN	E	172	ENSP00000365919:D172E;ENSP00000218056:D172E	ENSP00000218056:D172E	D	+	3	2	WDR13	48343042	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	0.927000	0.28818	0.182000	0.20032	0.356000	0.21956	GAT		0.572	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2			17	32	0	0	0	1	0	17	32				
TTN	7273	broad.mit.edu	37	2	179635252	179635252	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:179635252G>C	ENST00000591111.1	-	35	8491	c.8267C>G	c.(8266-8268)tCt>tGt	p.S2756C	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S2710C|TTN_ENST00000360870.5_Missense_Mutation_p.S2756C|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S2756C|TTN_ENST00000589042.1_Missense_Mutation_p.S2756C|TTN_ENST00000359218.5_Missense_Mutation_p.S2710C|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S2710C			Q8WZ42	TITIN_HUMAN	titin	13082					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTTTGACAGAGATAGCATA	0.443																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(8266-8268)tCt>tGt		titin							176.0	171.0	172.0					2																	179635252		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179635252G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8267C>G	2.37:g.179635252G>C	ENSP00000465570:p.Ser2756Cys					TTN_ENST00000460472.2_Missense_Mutation_p.S2710C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S2756C|TTN_ENST00000359218.5_Missense_Mutation_p.S2710C|TTN_ENST00000342992.6_Missense_Mutation_p.S2756C|TTN_ENST00000360870.5_Missense_Mutation_p.S2756C|TTN_ENST00000342175.6_Missense_Mutation_p.S2710C	p.S2756C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		35	8491	-			2494					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.8267C>G		.	.	.	.	.	.	.	.	.	.	G	8.792	0.930740	0.18131	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36	6.06	6.06	0.98353	Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82797	0.5115	M	0.84585	2.705	0.22858	N	0.998646	D;D;D;D;D	0.76494	0.993;0.993;0.993;0.993;0.999	P;P;P;P;D	0.63192	0.87;0.87;0.87;0.87;0.912	T	0.77005	-0.2748	9	0.87932	D	0	.	16.151	0.81622	0.0:0.0:0.866:0.134	.	2710;2710;2710;2756;2756	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	C	2756;2710;2710;2710;2710;2756	ENSP00000343764:S2756C;ENSP00000434586:S2710C;ENSP00000340554:S2710C;ENSP00000352154:S2710C;ENSP00000354117:S2756C	ENSP00000340554:S2710C	S	-	2	0	TTN	179343497	1.000000	0.71417	0.997000	0.53966	0.569000	0.35902	3.213000	0.51153	2.871000	0.98454	0.655000	0.94253	TCT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	61	0	0	0	1	0	10	61				
CDK11B	984	broad.mit.edu	37	1	1580603	1580603	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr1:1580603T>C	ENST00000407249.3	-	7	523	c.524A>G	c.(523-525)gAa>gGa	p.E175G	CDK11B_ENST00000340677.5_Missense_Mutation_p.E162G|CDK11B_ENST00000341832.6_Missense_Mutation_p.E128G|CDK11B_ENST00000317673.7_Missense_Mutation_p.E173G			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	143	Glu-rich.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						CCGCTTCCTTTCTAACTGCTC	0.602																																						ENST00000407249.3																			0				endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						c.(523-525)gAa>gGa		cyclin-dependent kinase 11B							37.0	41.0	40.0					1																	1580603		1791	4039	5830	SO:0001583	missense	984				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr1:1580603T>C	AK000081	CCDS72682.1, CCDS72683.1, CCDS72684.1	1p36.33	2013-09-24	2009-12-16	2009-12-16	ENSG00000248333	ENSG00000248333		"""Cyclin-dependent kinases"""	1729	protein-coding gene	gene with protein product		176873	"""cell division cycle 2-like 1 (PITSLRE proteins)"""	CDC2L1		1774066, 14511641, 19884882	Standard	XM_006711061		Approved	CDK11-p110, CDK11-p58, CDK11-p46	uc001agv.1	P21127	OTTHUMG00000078638	ENST00000407249.3:c.524A>G	1.37:g.1580603T>C	ENSP00000464036:p.Glu175Gly					CDK11B_ENST00000317673.7_Missense_Mutation_p.E173G|CDK11B_ENST00000340677.5_Missense_Mutation_p.E162G|CDK11B_ENST00000341832.6_Missense_Mutation_p.E128G	p.E175G			P21127	CD11B_HUMAN			7	523	-			172			Glu-rich.		O95265|Q12817|Q12818|Q12819|Q12820|Q12822|Q8N530|Q9NZS5|Q9UBJ0|Q9UBQ1|Q9UBR0|Q9UNY2|Q9UP57|Q9UP58|Q9UP59	Missense_Mutation	SNP	ENST00000407249.3	37	c.524A>G																																																																																					0.602	CDK11B-204	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001787		5	43	0	0	0	1	0	5	43				
RP11-403I13.8	0	broad.mit.edu	37	1	149288711	149288711	+	lincRNA	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr1:149288711G>A	ENST00000433084.1	+	0	1261				RP11-403I13.7_ENST00000424684.1_lincRNA|RNU1-143P_ENST00000516296.1_RNA																							CTCCACCCCCGGCGCCCAACC	0.657																																						ENST00000433084.1																			0																																																			0							g.chr1:149288711G>A																													1.37:g.149288711G>A														0	1261	+									RNA	SNP	ENST00000433084.1	37																																																																																						0.657	RP11-403I13.8-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000099633.1			3	7	0	0	0	1	0	3	7				
FAM178A	55719	broad.mit.edu	37	10	102689755	102689755	+	Splice_Site	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr10:102689755G>A	ENST00000238961.4	+	8	2875		c.e8+1		FAM178A_ENST00000370269.3_Splice_Site	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A							chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											TTATTCTTAAGTAAGTAGAAA	0.264																																						ENST00000238961.3																			0											c.e8+1		family with sequence similarity 178, member A							29.0	33.0	32.0					10																	102689755		2164	4264	6428	SO:0001630	splice_region_variant	0							g.chr10:102689755G>A	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.2333+1G>A	10.37:g.102689755G>A						FAM178A_ENST00000370269.3_Splice_Site		NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN			8	2481	+								A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Splice_Site	SNP	ENST00000238961.4	37		CCDS7500.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.136403	0.77662	.	.	ENSG00000119906	ENST00000238961;ENST00000370269	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8977	0.88893	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM178A	102679745	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.721000	0.74728	2.804000	0.96469	0.655000	0.94253	.		0.264	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3		Intron	6	13	0	0	0	1	0	6	13				
DTNA	1837	broad.mit.edu	37	18	32459673	32459673	+	Missense_Mutation	SNP	C	C	T	rs368868084		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr18:32459673C>T	ENST00000399113.3	+	19	2071	c.2071C>T	c.(2071-2073)Cgt>Tgt	p.R691C	DTNA_ENST00000601125.1_Missense_Mutation_p.R313C|DTNA_ENST00000283365.9_Missense_Mutation_p.R634C|DTNA_ENST00000399121.5_Missense_Mutation_p.R638C|DTNA_ENST00000269192.7_Missense_Mutation_p.R400C|DTNA_ENST00000591182.1_Missense_Mutation_p.R339C|DTNA_ENST00000399097.3_Missense_Mutation_p.R339C|DTNA_ENST00000598142.1_Missense_Mutation_p.R634C|DTNA_ENST00000444659.1_Missense_Mutation_p.R691C|DTNA_ENST00000598334.1_Missense_Mutation_p.R631C|DTNA_ENST00000595022.1_Missense_Mutation_p.R631C|DTNA_ENST00000556414.3_Missense_Mutation_p.R343C|DTNA_ENST00000269190.7_Missense_Mutation_p.R692C|DTNA_ENST00000590831.2_Missense_Mutation_p.R117C			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	691					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.R339C(1)|p.R691C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AAGTACCATGCGTGGCGACAT	0.433																																						ENST00000283365.9																			2	Substitution - Missense(2)	p.R339C(1)|p.R691C(1)	large_intestine(2)	endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1900-1902)Cgt>Tgt		dystrobrevin, alpha							66.0	60.0	62.0					18																	32459673		2203	4300	6503	SO:0001583	missense	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32459673C>T	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.2071C>T	18.37:g.32459673C>T	ENSP00000382064:p.Arg691Cys					DTNA_ENST00000595022.1_Missense_Mutation_p.R631C|DTNA_ENST00000444659.1_Missense_Mutation_p.R691C|DTNA_ENST00000598334.1_Missense_Mutation_p.R631C|DTNA_ENST00000269192.7_Missense_Mutation_p.R400C|DTNA_ENST00000598142.1_Missense_Mutation_p.R634C|DTNA_ENST00000591182.1_Missense_Mutation_p.R339C|DTNA_ENST00000601125.1_Missense_Mutation_p.R313C|DTNA_ENST00000399113.3_Missense_Mutation_p.R691C|DTNA_ENST00000399121.5_Missense_Mutation_p.R638C|DTNA_ENST00000590831.2_Missense_Mutation_p.R117C|DTNA_ENST00000269190.7_Missense_Mutation_p.R692C|DTNA_ENST00000556414.3_Missense_Mutation_p.R343C|DTNA_ENST00000399097.3_Missense_Mutation_p.R339C	p.R634C	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN			19	2251	+			691					A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	c.1900C>T	CCDS59311.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887499	0.52014	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000399114;ENST00000269190;ENST00000399097;ENST00000399121;ENST00000444659;ENST00000399113;ENST00000269192;ENST00000450377;ENST00000556414	T;T;T;T	0.19938	2.12;2.11;2.12;2.12	5.12	5.12	0.69794	.	0.294672	0.34725	N	0.003727	T	0.27241	0.0668	N	0.19112	0.55	0.41755	D	0.989684	D;D;D;D;D;D;D;D;D	0.71674	0.995;0.992;0.966;0.986;0.997;0.998;0.988;0.988;0.993	P;P;B;P;P;P;B;B;P	0.55824	0.707;0.785;0.258;0.614;0.656;0.768;0.265;0.265;0.453	T	0.05716	-1.0868	10	0.72032	D	0.01	-4.3178	17.0969	0.86637	0.0:1.0:0.0:0.0	.	343;400;381;691;634;339;638;642;634	B4DIU8;B4DIR0;B7Z3X3;Q9Y4J8;F5H5C1;Q9Y4J8-6;E9PEH8;Q59GK7;Q9Y4J8-2	.;.;.;DTNA_HUMAN;.;.;.;.;.	C	634;634;638;692;339;691;691;691;400;339;343	ENSP00000283365:R634C;ENSP00000269190:R692C;ENSP00000405819:R691C;ENSP00000382064:R691C	ENSP00000269190:R692C	R	+	1	0	DTNA	30713671	1.000000	0.71417	0.950000	0.38849	0.077000	0.17291	5.523000	0.67099	2.545000	0.85829	0.655000	0.94253	CGT		0.433	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		4	23	0	0	0	1	0	4	23				
B3GALT5	10317	broad.mit.edu	37	21	41033136	41033136	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr21:41033136C>G	ENST00000380620.4	+	5	1242	c.650C>G	c.(649-651)aCc>aGc	p.T217S	B3GALT5_ENST00000380618.1_Missense_Mutation_p.T217S|B3GALT5_ENST00000343118.4_Missense_Mutation_p.T217S|B3GALT5_ENST00000398714.2_Missense_Mutation_p.T217S|AF064860.5_ENST00000416555.1_RNA			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	217					protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TGCTCCGGCACCGGCTACGTG	0.512																																						ENST00000380620.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16						c.(649-651)aCc>aGc		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5							76.0	76.0	76.0					21																	41033136		2203	4300	6503	SO:0001583	missense	10317				protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr21:41033136C>G	AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"""Beta 3-glycosyltransferases"""	920	protein-coding gene	gene with protein product	"""homolog of C. elegans Bt toxin resistance gene bre-5"", ""GlcNAc-beta-1,3-galactosyltransferase 5"""	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.650C>G	21.37:g.41033136C>G	ENSP00000369994:p.Thr217Ser					AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000380618.1_Missense_Mutation_p.T217S|B3GALT5_ENST00000343118.4_Missense_Mutation_p.T217S|B3GALT5_ENST00000398714.2_Missense_Mutation_p.T217S	p.T217S			Q9Y2C3	B3GT5_HUMAN			5	1242	+		Prostate(19;2.55e-06)	217					A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Missense_Mutation	SNP	ENST00000380620.4	37	c.650C>G	CCDS13667.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044579	0.55110	.	.	ENSG00000183778	ENST00000380620;ENST00000380618;ENST00000343118;ENST00000398714	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	5.41	4.53	0.55603	.	0.000000	0.64402	D	0.000012	D	0.87912	0.6297	L	0.60012	1.86	0.46499	D	0.999074	D	0.89917	1.0	D	0.75020	0.985	D	0.85259	0.1049	10	0.21014	T	0.42	.	14.406	0.67083	0.0:0.9285:0.0:0.0715	.	217	Q9Y2C3	B3GT5_HUMAN	S	217	ENSP00000369994:T217S;ENSP00000369992:T217S;ENSP00000343318:T217S;ENSP00000381699:T217S	ENSP00000343318:T217S	T	+	2	0	B3GALT5	39955006	1.000000	0.71417	0.450000	0.26969	0.010000	0.07245	5.904000	0.69886	1.290000	0.44636	0.655000	0.94253	ACC		0.512	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195008.2	NM_033170		33	38	0	0	0	1	0	33	38				
CACNA2D3	55799	broad.mit.edu	37	3	55038789	55038789	+	Splice_Site	SNP	G	G	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr3:55038789G>C	ENST00000474759.1	+	32	2738		c.e32-1		CACNA2D3_ENST00000478261.1_Splice_Site|CACNA2D3_ENST00000288197.5_Splice_Site|CACNA2D3_ENST00000490478.1_Splice_Site|CACNA2D3_ENST00000415676.2_Splice_Site	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3							integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	CTTTCCTGTAGAATTACCCTT	0.453																																						ENST00000474759.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59						c.e32-1		calcium channel, voltage-dependent, alpha 2/delta subunit 3							135.0	127.0	130.0					3																	55038789		1921	4146	6067	SO:0001630	splice_region_variant	55799					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:55038789G>C	AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2691-1G>C	3.37:g.55038789G>C						CACNA2D3_ENST00000415676.2_Splice_Site|CACNA2D3_ENST00000288197.5_Splice_Site|CACNA2D3_ENST00000478261.1_Splice_Site|CACNA2D3_ENST00000490478.1_Splice_Site		NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	32	2738	+								B2RPL6|Q9NY16|Q9NY18	Splice_Site	SNP	ENST00000474759.1	37		CCDS54598.1	.	.	.	.	.	.	.	.	.	.	g	26.2	4.710989	0.89112	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7754	0.91910	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA2D3	55013829	1.000000	0.71417	0.285000	0.24819	0.755000	0.42902	7.486000	0.81215	2.873000	0.98535	0.563000	0.77884	.		0.453	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1		Intron	11	39	0	0	0	1	0	11	39				
CNR1	1268	broad.mit.edu	37	6	88854544	88854544	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr6:88854544C>G	ENST00000537554.1	-	2	4012	c.450G>C	c.(448-450)agG>agC	p.R150S	CNR1_ENST00000549716.1_Missense_Mutation_p.R89S|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369499.2_Missense_Mutation_p.R150S|CNR1_ENST00000428600.2_Missense_Mutation_p.R150S|CNR1_ENST00000468898.1_Missense_Mutation_p.R117S|CNR1_ENST00000369501.2_Missense_Mutation_p.R150S|CNR1_ENST00000535130.1_Missense_Mutation_p.R150S|CNR1_ENST00000549890.1_Missense_Mutation_p.R150S	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	150					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GGTAGGAAGGCCTGCAGCGGA	0.602																																						ENST00000537554.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37						c.(448-450)agG>agC		cannabinoid receptor 1 (brain)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						35.0	35.0	35.0					6																	88854544		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88854544C>G	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.450G>C	6.37:g.88854544C>G	ENSP00000441046:p.Arg150Ser					CNR1_ENST00000369501.2_Missense_Mutation_p.R150S|CNR1_ENST00000468898.1_Missense_Mutation_p.R117S|CNR1_ENST00000549716.1_Missense_Mutation_p.R89S|CNR1_ENST00000549890.1_Missense_Mutation_p.R150S|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369499.2_Missense_Mutation_p.R150S|CNR1_ENST00000535130.1_Missense_Mutation_p.R150S|CNR1_ENST00000428600.2_Missense_Mutation_p.R150S	p.R150S	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4012	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	150					B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.450G>C	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896470	0.52121	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.77	4.9	0.64082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.29126	0.0724	N	0.20357	0.565	0.80722	D	1	D;D	0.64830	0.989;0.994	D;D	0.75020	0.985;0.953	T	0.08973	-1.0696	10	0.72032	D	0.01	.	12.3979	0.55395	0.0:0.8659:0.0:0.1341	.	117;150	P21554-3;P21554	.;CNR1_HUMAN	S	150;150;150;150;150;117;150;89	ENSP00000358513:R150S;ENSP00000442689:R150S;ENSP00000441046:R150S;ENSP00000358511:R150S;ENSP00000446819:R150S;ENSP00000420188:R117S;ENSP00000412192:R150S;ENSP00000449549:R89S	ENSP00000358511:R150S	R	-	3	2	CNR1	88911263	0.990000	0.36364	1.000000	0.80357	0.859000	0.49053	0.340000	0.19892	2.732000	0.93576	0.563000	0.77884	AGG		0.602	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			3	28	0	0	0	1	0	3	28				
GPC3	2719	broad.mit.edu	37	X	132888171	132888171	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:132888171T>C	ENST00000370818.3	-	3	815	c.370A>G	c.(370-372)Aac>Gac	p.N124D	GPC3_ENST00000543339.1_Missense_Mutation_p.N70D|GPC3_ENST00000394299.2_Missense_Mutation_p.N124D	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	124					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TTGGTGTAGTTCTTGGCATGG	0.368			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																													ENST00000370818.3			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	"""T, D, Mis, N, F, S"""	glypican 3			O		Wilms tumour			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36						c.(370-372)Aac>Gac		glypican 3							315.0	249.0	272.0					X																	132888171		2203	4300	6503	SO:0001583	missense	2719	Simpson-Golabi-Behmel syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:132888171T>C	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.370A>G	X.37:g.132888171T>C	ENSP00000359854:p.Asn124Asp					GPC3_ENST00000543339.1_Missense_Mutation_p.N70D|GPC3_ENST00000394299.2_Missense_Mutation_p.N124D	p.N124D	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN			3	815	-	Acute lymphoblastic leukemia(192;0.000127)		124					C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	ENST00000370818.3	37	c.370A>G	CCDS14638.1	.	.	.	.	.	.	.	.	.	.	T	17.76	3.468841	0.63625	.	.	ENSG00000147257	ENST00000370818;ENST00000394299;ENST00000543339	T;T;T	0.53857	0.6;0.6;0.6	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.71550	0.3353	M	0.74467	2.265	0.50632	D	0.999889	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.85130	0.992;0.997;0.992;0.992	T	0.75545	-0.3280	10	0.87932	D	0	.	13.3683	0.60698	0.0:0.0:0.0:1.0	.	108;70;124;124	B4DTD8;G3V1R0;C9JLE3;P51654	.;.;.;GPC3_HUMAN	D	124;124;70	ENSP00000359854:N124D;ENSP00000377836:N124D;ENSP00000444222:N70D	ENSP00000359854:N124D	N	-	1	0	GPC3	132715837	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.500000	0.81588	1.751000	0.51876	0.437000	0.28790	AAC		0.368	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		50	86	0	0	0	1	0	50	86				
DOPEY1	23033	broad.mit.edu	37	6	83839206	83839206	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr6:83839206C>A	ENST00000349129.2	+	16	2580	c.2320C>A	c.(2320-2322)Cgt>Agt	p.R774S	DOPEY1_ENST00000237163.5_Missense_Mutation_p.R755S|DOPEY1_ENST00000369739.3_Missense_Mutation_p.R765S	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	774					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ATCAGAGTTACGTTCTGAAAA	0.393																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(2320-2322)Cgt>Agt		dopey family member 1							59.0	60.0	60.0					6																	83839206		2203	4300	6503	SO:0001583	missense	23033				protein transport			g.chr6:83839206C>A	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.2320C>A	6.37:g.83839206C>A	ENSP00000195654:p.Arg774Ser					DOPEY1_ENST00000369739.3_Missense_Mutation_p.R765S|DOPEY1_ENST00000237163.5_Missense_Mutation_p.R755S	p.R774S	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	16	2580	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	774					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.2320C>A	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	9.889	1.203592	0.22121	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.20738	2.05;2.05	5.68	1.91	0.25777	.	1.126870	0.06339	N	0.707686	T	0.02688	0.0081	N	0.08118	0	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.47686	-0.9098	10	0.07644	T	0.81	.	6.7987	0.23738	0.1303:0.6714:0.0:0.1983	.	665;765;774	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	S	774;755;755	ENSP00000195654:R774S;ENSP00000237163:R755S	ENSP00000237163:R755S	R	+	1	0	DOPEY1	83895925	0.838000	0.29461	0.299000	0.25016	0.837000	0.47467	0.801000	0.27055	0.060000	0.16281	0.650000	0.86243	CGT		0.393	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		8	24	1	0	0.00621372	1	0.00651245	8	24				
RPS28	6234	broad.mit.edu	37	19	8386953	8386953	+	Missense_Mutation	SNP	G	G	C	rs368264615		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:8386953G>C	ENST00000600659.2	+	3	235	c.204G>C	c.(202-204)ttG>ttC	p.L68F	NDUFA7_ENST00000301457.2_5'Flank|NDUFA7_ENST00000598884.1_5'Flank	NM_001031.4	NP_001022.1	P62857	RS28_HUMAN	ribosomal protein S28	68					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)										CCCGGAGGTTGCGCTGAGCTT	0.602																																						ENST00000600659.2																			0											c.(202-204)ttG>ttC		ribosomal protein S28							17.0	17.0	17.0					19																	8386953		1998	4161	6159	SO:0001583	missense	6234				endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr19:8386953G>C	D14530	CCDS45953.1	19p13.2	2011-04-06				ENSG00000233927		"""S ribosomal proteins"""	10418	protein-coding gene	gene with protein product	"""40S ribosomal protein S28"""	603685				8415000, 9582194	Standard	NM_001031		Approved	S28	uc002mjn.3	P62857		ENST00000600659.2:c.204G>C	19.37:g.8386953G>C	ENSP00000472469:p.Leu68Phe						p.L68F	NM_001031.4	NP_001022.1	P62857	RS28_HUMAN			3	235	+			68					P25112	Missense_Mutation	SNP	ENST00000600659.2	37	c.204G>C	CCDS45953.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.87|16.87	3.243257|3.243257	0.58995|0.58995	.|.	.|.	ENSG00000233927|ENSG00000233927	ENST00000449223|ENST00000417088	.|.	.|.	.|.	5.22|5.22	1.95|1.95	0.26073|0.26073	.|Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.|.	.|.	.|.	.|.	T|T	0.55449|0.55449	0.1921|0.1921	.|.	.|.	.|.	0.24688|0.24688	N|N	0.993322|0.993322	.|D	.|0.63880	.|0.993	.|D	.|0.68943	.|0.961	T|T	0.41395|0.41395	-0.9511|-0.9511	5|7	0.87932|0.87932	D|D	0|0	.|.	4.9746|4.9746	0.14135|0.14135	0.2309:0.0:0.6213:0.1478|0.2309:0.0:0.6213:0.1478	.|.	.|68	.|P62857	.|RS28_HUMAN	P|F	82|68	.|.	ENSP00000415944:A82P|ENSP00000397872:L68F	A|L	+|+	1|3	0|2	RPS28|RPS28	8292953|8292953	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.845000|0.845000	0.48019|0.48019	0.319000|0.319000	0.19522|0.19522	0.375000|0.375000	0.24679|0.24679	-0.733000|-0.733000	0.03571|0.03571	GCG|TTG		0.602	RPS28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461377.3	NM_001031		4	8	0	0	0	1	0	4	8				
PNPT1	87178	broad.mit.edu	37	2	55872564	55872564	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:55872564G>A	ENST00000447944.2	-	22	1828	c.1742C>T	c.(1741-1743)gCa>gTa	p.A581V		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	581					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTCCTTTTTTGCCACTAGAAG	0.294																																						ENST00000447944.2																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27						c.(1741-1743)gCa>gTa		polyribonucleotide nucleotidyltransferase 1							72.0	71.0	72.0					2																	55872564		2203	4299	6502	SO:0001583	missense	87178				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	g.chr2:55872564G>A	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.1742C>T	2.37:g.55872564G>A	ENSP00000400646:p.Ala581Val						p.A581V	NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		22	1828	-			581					Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	ENST00000447944.2	37	c.1742C>T	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	G	33	5.267842	0.95399	.	.	ENSG00000138035	ENST00000447944	T	0.47177	0.85	5.66	5.66	0.87406	Exoribonuclease, phosphorolytic domain 2 (1);	0.000000	0.85682	D	0.000000	T	0.78362	0.4271	H	0.94886	3.595	0.80722	D	1	D	0.56287	0.975	D	0.67548	0.952	D	0.84064	0.0376	10	0.87932	D	0	-12.9553	19.7393	0.96219	0.0:0.0:1.0:0.0	.	581	Q8TCS8	PNPT1_HUMAN	V	581	ENSP00000400646:A581V	ENSP00000393953:A581V	A	-	2	0	PNPT1	55726068	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.361000	0.97122	2.670000	0.90874	0.650000	0.86243	GCA		0.294	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109		8	21	0	0	0	1	0	8	21				
MUM1L1	139221	broad.mit.edu	37	X	105451418	105451418	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:105451418C>A	ENST00000357175.2	+	4	2642	c.1993C>A	c.(1993-1995)Cta>Ata	p.L665I	MUM1L1_ENST00000372552.1_Missense_Mutation_p.L665I|MUM1L1_ENST00000337685.2_Missense_Mutation_p.L665I	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	665						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGCAAAGTATCTAAAAGGACC	0.338																																						ENST00000337685.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1993-1995)Cta>Ata		melanoma associated antigen (mutated) 1-like 1																																				SO:0001583	missense	139221							g.chrX:105451418C>A	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1993C>A	X.37:g.105451418C>A	ENSP00000349699:p.Leu665Ile					MUM1L1_ENST00000357175.2_Missense_Mutation_p.L665I|MUM1L1_ENST00000372552.1_Missense_Mutation_p.L665I	p.L665I	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN			5	2778	+			665					D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	ENST00000357175.2	37	c.1993C>A	CCDS55469.1	.	.	.	.	.	.	.	.	.	.	C	8.084	0.773081	0.16051	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.42131	0.98;0.98;0.98	4.51	2.61	0.31194	.	0.164753	0.27043	N	0.021220	T	0.26011	0.0634	L	0.28458	0.855	0.25023	N	0.991327	B	0.28713	0.22	B	0.31442	0.13	T	0.13308	-1.0514	10	0.16896	T	0.51	-47.8275	6.2106	0.20628	0.2153:0.5803:0.2045:0.0	.	665	Q5H9M0	MUML1_HUMAN	I	665	ENSP00000349699:L665I;ENSP00000338641:L665I;ENSP00000361632:L665I	ENSP00000338641:L665I	L	+	1	2	MUM1L1	105338074	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	1.988000	0.40697	1.042000	0.40150	-0.275000	0.10095	CTA		0.338	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423		3	2	1	0	0.004672	1	0.00494416	3	2				
TLN2	83660	broad.mit.edu	37	15	63084975	63084975	+	Missense_Mutation	SNP	G	G	A	rs375769813		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr15:63084975G>A	ENST00000561311.1	+	45	6102	c.5872G>A	c.(5872-5874)Gtc>Atc	p.V1958I	TLN2_ENST00000306829.6_Missense_Mutation_p.V1958I			Q9Y4G6	TLN2_HUMAN	talin 2	1958					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CGCCCGTGCCGTCACGGAAAA	0.577																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(5872-5874)Gtc>Atc		talin 2		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	37.0	38.0	38.0		5872	4.7	1.0	15		38	0,8600		0,0,4300	no	missense	TLN2	NM_015059.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	1958/2543	63084975	1,13005	2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63084975G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5872G>A	15.37:g.63084975G>A	ENSP00000453508:p.Val1958Ile					TLN2_ENST00000306829.6_Missense_Mutation_p.V1958I	p.V1958I			Q9Y4G6	TLN2_HUMAN			45	6102	+			1958					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.5872G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881887	0.72294	2.27E-4	0.0	ENSG00000171914	ENST00000306829	T	0.25749	1.78	5.67	4.74	0.60224	Vinculin-binding site-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.31167	0.0788	M	0.78637	2.42	0.80722	D	1	P	0.44690	0.841	B	0.38712	0.28	T	0.19614	-1.0300	10	0.39692	T	0.17	-35.9298	15.0152	0.71578	0.0691:0.0:0.9309:0.0	.	1958	Q9Y4G6	TLN2_HUMAN	I	1958	ENSP00000303476:V1958I	ENSP00000303476:V1958I	V	+	1	0	TLN2	60872028	1.000000	0.71417	0.955000	0.39395	0.466000	0.32739	9.813000	0.99286	2.677000	0.91161	0.655000	0.94253	GTC		0.577	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			8	19	0	0	0	1	0	8	19				
MPZL3	196264	broad.mit.edu	37	11	118107897	118107897	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr11:118107897A>G	ENST00000278949.4	-	3	374	c.319T>C	c.(319-321)Tac>Cac	p.Y107H	MPZL3_ENST00000527472.1_Missense_Mutation_p.Y95H|MPZL3_ENST00000525386.1_Intron			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	107	Ig-like V-type.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|hair cycle (GO:0042633)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TCCCCTTTGTATACATTTCCA	0.423																																						ENST00000278949.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8						c.(319-321)Tac>Cac		myelin protein zero-like 3							208.0	194.0	199.0					11																	118107897		2200	4296	6496	SO:0001583	missense	196264				cell adhesion	integral to membrane		g.chr11:118107897A>G	AK095399	CCDS8392.1, CCDS66241.1	11q23.3	2013-01-11			ENSG00000160588	ENSG00000160588		"""Immunoglobulin superfamily / V-set domain containing"""	27279	protein-coding gene	gene with protein product		611707				17273165	Standard	NM_198275		Approved		uc001psm.3	Q6UWV2	OTTHUMG00000166966	ENST00000278949.4:c.319T>C	11.37:g.118107897A>G	ENSP00000278949:p.Tyr107His					MPZL3_ENST00000527472.1_Missense_Mutation_p.Y95H|MPZL3_ENST00000525386.1_Intron	p.Y107H			Q6UWV2	MPZL3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	3	374	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	107			Ig-like V-type.		A8K025|B4DLD5|B4E2I8	Missense_Mutation	SNP	ENST00000278949.4	37	c.319T>C	CCDS8392.1	.	.	.	.	.	.	.	.	.	.	A	12.91	2.079087	0.36662	.	.	ENSG00000160588	ENST00000278949;ENST00000527472	T;T	0.64618	-0.11;-0.11	5.98	4.83	0.62350	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.255229	0.32533	N	0.005976	T	0.62109	0.2401	N	0.25647	0.755	0.27717	N	0.945269	D;D	0.71674	0.997;0.998	D;D	0.66196	0.942;0.942	T	0.54364	-0.8305	10	0.35671	T	0.21	.	7.3073	0.26455	0.5694:0.3007:0.0:0.1299	.	95;107	B4E2I8;Q6UWV2	.;MPZL3_HUMAN	H	107;95	ENSP00000278949:Y107H;ENSP00000432106:Y95H	ENSP00000278949:Y107H	Y	-	1	0	MPZL3	117613107	0.988000	0.35896	0.949000	0.38748	0.992000	0.81027	2.943000	0.49026	1.056000	0.40484	0.482000	0.46254	TAC		0.423	MPZL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392109.1	NM_198275		55	70	0	0	0	1	0	55	70				
ZNF33A	7581	broad.mit.edu	37	10	38344803	38344803	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr10:38344803A>T	ENST00000458705.2	+	5	1906	c.1748A>T	c.(1747-1749)cAt>cTt	p.H583L	ZNF33A_ENST00000374618.3_Missense_Mutation_p.H584L|ZNF33A_ENST00000432900.2_Missense_Mutation_p.H590L|ZNF33A_ENST00000307441.9_Missense_Mutation_p.H583L|ZNF33A_ENST00000469037.2_Intron			Q06730	ZN33A_HUMAN	zinc finger protein 33A	583					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TACGAATGTCATGAATGTGGA	0.378																																						ENST00000374618.3																			0				cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						c.(1750-1752)cAt>cTt		zinc finger protein 33A							85.0	85.0	85.0					10																	38344803		2203	4300	6503	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38344803A>T	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1748A>T	10.37:g.38344803A>T	ENSP00000387713:p.His583Leu					ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.H583L|ZNF33A_ENST00000458705.2_Missense_Mutation_p.H583L|ZNF33A_ENST00000432900.2_Missense_Mutation_p.H590L	p.H584L	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN			5	1929	+			583					A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.1751A>T	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	A	6.207	0.406372	0.11754	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.13089	2.62;2.62;2.62;2.62	1.68	0.146	0.14833	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.681652	0.12120	N	0.497751	T	0.06371	0.0164	N	0.16833	0.445	0.09310	N	1	B;B;B	0.33777	0.372;0.425;0.013	B;B;B	0.31495	0.114;0.131;0.003	T	0.31251	-0.9950	10	0.45353	T	0.12	.	2.1544	0.03808	0.4327:0.2855:0.0:0.2818	.	590;583;584	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	L	584;590;583;583	ENSP00000363747:H584L;ENSP00000402467:H590L;ENSP00000387713:H583L;ENSP00000304268:H583L	ENSP00000304268:H583L	H	+	2	0	ZNF33A	38384809	0.000000	0.05858	0.989000	0.46669	0.557000	0.35523	-0.597000	0.05713	0.746000	0.32786	0.254000	0.18369	CAT		0.378	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		25	49	0	0	0	1	0	25	49				
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	626							ion channel inhibitor activity (GO:0008200)	p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D626N(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1876-1878)Gat>Aat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593025C>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1876G>A	2.37:g.96593025C>T	ENSP00000403302:p.Asp626Asn						p.D626N							28	1960	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1876G>A		.	.	.	.	.	.	.	.	.	.	c	12.80	2.046325	0.36085	.	.	ENSG00000174501	ENST00000456556	T	0.77098	-1.07	0.578	0.578	0.17391	.	.	.	.	.	T	0.80454	0.4626	M	0.70275	2.135	0.80722	P	0.0	.	.	.	.	.	.	T	0.82748	-0.0304	5	0.51188	T	0.08	.	.	.	.	.	.	.	.	N	626	ENSP00000403302:D626N	ENSP00000403302:D626N	D	-	1	0	AC073995.2	95956752	0.005000	0.15991	0.002000	0.10522	0.010000	0.07245	1.620000	0.36976	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	59	0	0	0	1	0	5	59				
GPX3	2878	broad.mit.edu	37	5	150405020	150405020	+	Silent	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr5:150405020G>A	ENST00000388825.4	+	2	299	c.207G>A	c.(205-207)gtG>gtA	p.V69V	GPX3_ENST00000517973.1_Intron|GPX3_ENST00000521722.1_3'UTR	NM_002084.3	NP_002075.2	P22352	GPX3_HUMAN	glutathione peroxidase 3 (plasma)	69					hydrogen peroxide catabolic process (GO:0042744)|protein homotetramerization (GO:0051289)|response to lipid hydroperoxide (GO:0006982)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	glutathione peroxidase activity (GO:0004602)|selenium binding (GO:0008430)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(3)|lung(1)|skin(1)	6		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glutathione(DB00143)	TTGTCAACGTGGCCAGCTACT	0.517																																						ENST00000388825.4																			0				kidney(1)|large_intestine(3)|lung(1)|skin(1)	6						c.(205-207)gtG>gtA		glutathione peroxidase 3 (plasma)	Glutathione(DB00143)						83.0	82.0	82.0					5																	150405020		1989	4178	6167	SO:0001819	synonymous_variant	2878				hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding	g.chr5:150405020G>A		CCDS43389.1	5q23	2012-03-01			ENSG00000211445	ENSG00000211445	1.11.1.9		4555	protein-coding gene	gene with protein product		138321				3619451, 8287691	Standard	NM_002084		Approved		uc021yga.1	P22352	OTTHUMG00000163693	ENST00000388825.4:c.207G>A	5.37:g.150405020G>A						GPX3_ENST00000521722.1_3'UTR|GPX3_ENST00000517973.1_Intron	p.V69V	NM_002084.3	NP_002075.2	P22352	GPX3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	299	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	69					O43787|Q86W78|Q9NZ74|Q9UEL1	Silent	SNP	ENST00000388825.4	37	c.207G>A	CCDS43389.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.391145	0.25118	.	.	ENSG00000211445	ENST00000521632	.	.	.	5.8	2.2	0.27929	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9544	0.19265	0.3071:0.0:0.5498:0.1431	.	.	.	.	X	39	.	.	W	+	2	0	GPX3	150385213	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	0.835000	0.27531	1.106000	0.41623	0.655000	0.94253	TGG		0.517	GPX3-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000374772.1			7	42	0	0	0	1	0	7	42				
OR8H2	390151	broad.mit.edu	37	11	55872940	55872940	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr11:55872940G>T	ENST00000313503.1	+	1	422	c.422G>T	c.(421-423)tGc>tTc	p.C141F		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					AAAAGGCTCTGCCTCGCTCTC	0.458										HNSCC(53;0.14)																												ENST00000313503.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(421-423)tGc>tTc		olfactory receptor, family 8, subfamily H, member 2							212.0	193.0	199.0					11																	55872940		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872940G>T	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.422G>T	11.37:g.55872940G>T	ENSP00000323982:p.Cys141Phe	HNSCC(53;0.14)					p.C141F	NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN			1	422	+	Esophageal squamous(21;0.00693)		141					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.422G>T	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	g	13.81	2.349507	0.41599	.	.	ENSG00000181767	ENST00000313503	T	0.00220	8.52	3.58	2.64	0.31445	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000019	T	0.00724	0.0024	M	0.93062	3.375	0.09310	N	1	D	0.67145	0.996	D	0.72338	0.977	T	0.12091	-1.0561	10	0.87932	D	0	.	13.5835	0.61917	0.0:0.1575:0.8425:0.0	.	141	Q8N162	OR8H2_HUMAN	F	141	ENSP00000323982:C141F	ENSP00000323982:C141F	C	+	2	0	OR8H2	55629516	0.221000	0.23642	0.004000	0.12327	0.031000	0.12232	2.998000	0.49465	0.789000	0.33779	0.440000	0.28878	TGC		0.458	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		12	424	1	0	7.03913e-09	1	8.07647e-09	12	424				
ANKZF1	55139	broad.mit.edu	37	2	220100575	220100575	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:220100575C>T	ENST00000323348.5	+	12	2123	c.1949C>T	c.(1948-1950)gCc>gTc	p.A650V	ANKZF1_ENST00000409849.1_Missense_Mutation_p.A440V|GLB1L_ENST00000497855.1_5'Flank|ANKZF1_ENST00000410034.3_Missense_Mutation_p.A650V	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	650						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGCGATTTGCCGCCCTCAGT	0.622																																						ENST00000323348.5																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(1948-1950)gCc>gTc		ankyrin repeat and zinc finger domain containing 1							107.0	122.0	117.0					2																	220100575		2170	4259	6429	SO:0001583	missense	55139					intracellular	zinc ion binding	g.chr2:220100575C>T	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.1949C>T	2.37:g.220100575C>T	ENSP00000321617:p.Ala650Val					ANKZF1_ENST00000410034.3_Missense_Mutation_p.A650V|ANKZF1_ENST00000409849.1_Missense_Mutation_p.A440V	p.A650V	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	12	2123	+		Renal(207;0.0474)	650					Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	c.1949C>T	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	C	16.01	2.999912	0.54147	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	D;D;D	0.94457	-3.43;-3.43;-3.43	5.38	5.38	0.77491	.	0.052384	0.85682	D	0.000000	D	0.93546	0.7940	L	0.58101	1.795	0.51767	D	0.999938	P	0.35982	0.531	B	0.37387	0.248	D	0.92703	0.6176	10	0.44086	T	0.13	-10.735	19.3333	0.94303	0.0:1.0:0.0:0.0	.	650	Q9H8Y5	ANKZ1_HUMAN	V	650;440;650	ENSP00000321617:A650V;ENSP00000386815:A440V;ENSP00000386337:A650V	ENSP00000321617:A650V	A	+	2	0	ANKZF1	219808819	0.995000	0.38212	0.989000	0.46669	0.456000	0.32438	3.301000	0.51842	2.793000	0.96121	0.655000	0.94253	GCC		0.622	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		5	181	0	0	0	1	0	5	181				
TAAR5	9038	broad.mit.edu	37	6	132910256	132910256	+	Silent	SNP	G	G	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr6:132910256G>T	ENST00000258034.2	-	1	621	c.570C>A	c.(568-570)ggC>ggA	p.G190G		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	190					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GCTGGCAACTGCCCACACAAG	0.498																																						ENST00000258034.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32						c.(568-570)ggC>ggA		trace amine associated receptor 5							42.0	44.0	43.0					6																	132910256		2201	4300	6501	SO:0001819	synonymous_variant	9038				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr6:132910256G>T	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.570C>A	6.37:g.132910256G>T							p.G190G	NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)	1	621	-	Breast(56;0.112)		190					D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Silent	SNP	ENST00000258034.2	37	c.570C>A	CCDS5156.1																																																																																				0.498	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967		6	68	1	0	0.00116845	1	0.001261	6	68				
C19orf70	125988	broad.mit.edu	37	19	5679659	5679659	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:5679659G>T	ENST00000309324.4	-	2	554	c.145C>A	c.(145-147)Ccc>Acc	p.P49T	HSD11B1L_ENST00000339423.2_5'Flank|HSD11B1L_ENST00000423665.2_5'Flank|C19orf70_ENST00000587950.1_Missense_Mutation_p.P71T|C19orf70_ENST00000590389.1_Missense_Mutation_p.P71T|HSD11B1L_ENST00000581893.1_5'Flank|HSD11B1L_ENST00000581521.1_5'Flank|C19orf70_ENST00000587589.1_Missense_Mutation_p.P49T|HSD11B1L_ENST00000422535.2_5'Flank|HSD11B1L_ENST00000342970.2_5'Flank|RPL36_ENST00000579649.1_Intron|C19orf70_ENST00000585605.1_5'UTR|HSD11B1L_ENST00000581773.1_5'Flank|HSD11B1L_ENST00000577917.1_5'Flank|HSD11B1L_ENST00000301382.4_5'Flank|HSD11B1L_ENST00000583928.1_5'Flank|HSD11B1L_ENST00000411793.2_5'Flank|RPL36_ENST00000577222.1_5'Flank	NM_205767.1	NP_991330.1	Q5XKP0	QIL1_HUMAN	chromosome 19 open reading frame 70	49						mitochondrion (GO:0005739)				endometrium(1)|lung(1)	2						ATGGCGGGGGGGACCACCTCC	0.657																																						ENST00000309324.4																			0				endometrium(1)|lung(1)	2						c.(145-147)Ccc>Acc		chromosome 19 open reading frame 70							47.0	44.0	45.0					19																	5679659		2203	4299	6502	SO:0001583	missense	125988						protein binding	g.chr19:5679659G>T	BC009557	CCDS12143.1	19p13.3	2012-10-26			ENSG00000174917	ENSG00000174917			33702	protein-coding gene	gene with protein product						14702039, 17353931	Standard	NM_205767		Approved	QIL1, P117	uc002mch.1	Q5XKP0		ENST00000309324.4:c.145C>A	19.37:g.5679659G>T	ENSP00000309561:p.Pro49Thr					C19orf70_ENST00000587950.1_Missense_Mutation_p.P71T|C19orf70_ENST00000585605.1_5'UTR|C19orf70_ENST00000590389.1_Missense_Mutation_p.P71T|RPL36_ENST00000579649.1_Intron|C19orf70_ENST00000587589.1_Missense_Mutation_p.P49T	p.P49T	NM_205767.1	NP_991330.1	Q5XKP0	QIL1_HUMAN			2	554	-			49					Q86YE5	Missense_Mutation	SNP	ENST00000309324.4	37	c.145C>A	CCDS12143.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321230	0.41096	.	.	ENSG00000174917	ENST00000309324	T	0.27557	1.66	4.74	3.66	0.41972	.	0.085818	0.45867	N	0.000334	T	0.33556	0.0867	M	0.71581	2.175	0.39686	D	0.97097	P	0.36144	0.539	B	0.36134	0.218	T	0.30966	-0.9960	10	0.72032	D	0.01	-15.7895	11.0864	0.48089	0.0:0.0:0.8139:0.186	.	49	Q5XKP0	QIL1_HUMAN	T	49	ENSP00000309561:P49T	ENSP00000309561:P49T	P	-	1	0	C19orf70	5630659	1.000000	0.71417	0.017000	0.16124	0.031000	0.12232	5.193000	0.65120	0.920000	0.36970	0.462000	0.41574	CCC		0.657	C19orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451656.1	NM_205767		10	22	1	0	2.17888e-05	1	2.42345e-05	10	22				
ENC1	8507	broad.mit.edu	37	5	73932112	73932112	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr5:73932112A>G	ENST00000302351.4	-	2	1329	c.199T>C	c.(199-201)Tgc>Cgc	p.C67R	ENC1_ENST00000537006.1_Missense_Mutation_p.C67R|ENC1_ENST00000510316.1_5'UTR	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	67	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TAGCGACTGCATGCAGCCAGC	0.542																																						ENST00000302351.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20						c.(199-201)Tgc>Cgc		ectodermal-neural cortex 1 (with BTB domain)							68.0	62.0	64.0					5																	73932112		2203	4300	6503	SO:0001583	missense	8507				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr5:73932112A>G	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"""Kelch-like"", ""BTB/POZ domain containing"""	3345	protein-coding gene	gene with protein product	"""kelch-like family member 37"""	605173	"""ectodermal-neural cortex 1 (with BTB-like domain)"""	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.199T>C	5.37:g.73932112A>G	ENSP00000306356:p.Cys67Arg					ENC1_ENST00000537006.1_Missense_Mutation_p.C67R|ENC1_ENST00000510316.1_5'UTR	p.C67R	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	2	1329	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	67			BTB.		B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	37	c.199T>C	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.231188	0.58777	.	.	ENSG00000171617	ENST00000302351;ENST00000537006	T;T	0.66280	-0.2;-0.2	5.78	5.78	0.91487	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.73009	0.3532	L	0.48877	1.53	0.80722	D	1	D	0.53885	0.963	D	0.63703	0.917	T	0.75505	-0.3294	10	0.87932	D	0	.	16.1053	0.81216	1.0:0.0:0.0:0.0	.	67	O14682	ENC1_HUMAN	R	67	ENSP00000306356:C67R;ENSP00000446289:C67R	ENSP00000306356:C67R	C	-	1	0	ENC1	73967868	1.000000	0.71417	0.927000	0.36925	0.923000	0.55619	9.339000	0.96797	2.211000	0.71520	0.459000	0.35465	TGC		0.542	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		19	8	0	0	0	1	0	19	8				
ARID1B	57492	broad.mit.edu	37	6	157528639	157528639	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr6:157528639C>T	ENST00000350026.5	+	19	6326	c.6325C>T	c.(6325-6327)Cgc>Tgc	p.R2109C	ARID1B_ENST00000275248.4_Missense_Mutation_p.R2104C|ARID1B_ENST00000367148.1_Missense_Mutation_p.R2162C|ARID1B_ENST00000346085.5_Missense_Mutation_p.R2122C	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2109					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CGTTGGGGATCGCAAAAACCC	0.488																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(6364-6366)Cgc>Tgc		AT rich interactive domain 1B (SWI1-like)							187.0	195.0	192.0					6																	157528639		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157528639C>T	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.6325C>T	6.37:g.157528639C>T	ENSP00000055163:p.Arg2109Cys					ARID1B_ENST00000367148.1_Missense_Mutation_p.R2162C|ARID1B_ENST00000350026.5_Missense_Mutation_p.R2109C|ARID1B_ENST00000275248.4_Missense_Mutation_p.R2104C	p.R2122C	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	20	6365	+		Breast(66;0.000162)|Ovarian(120;0.0265)	2109					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.6364C>T	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307725	0.40795	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.26	5.26	0.73747	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.56819	0.2011	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.61153	-0.7120	10	0.87932	D	0	.	19.2386	0.93873	0.0:1.0:0.0:0.0	.	2109;2122;2104	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	C	2122;2109;2162;2104;1631	ENSP00000344546:R2122C;ENSP00000055163:R2109C;ENSP00000356116:R2162C;ENSP00000275248:R2104C;ENSP00000412835:R1631C	ENSP00000275248:R2104C	R	+	1	0	ARID1B	157570331	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.887000	0.56197	2.607000	0.88179	0.655000	0.94253	CGC		0.488	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		39	176	0	0	0	1	0	39	176				
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	290	Pro-rich.							p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562																																						ENST00000360151.4																			2	Substitution - Missense(2)	p.L290F(2)	kidney(2)								c.(868-870)Ctc>Ttc		nuclear pore complex interacting protein family, member A5																																				SO:0001583	missense	100288332							g.chr16:15457701G>A		CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.868C>T	16.37:g.15457701G>A	ENSP00000433597:p.Leu290Phe						p.L290F	NM_001277325.1	NP_001264254.1					8	867	-								Q0P618	Missense_Mutation	SNP	ENST00000360151.4	37	c.868C>T	CCDS59264.1	.	.	.	.	.	.	.	.	.	.	.	4.044	0.005714	0.07866	.	.	ENSG00000183793	ENST00000360151	T	0.56275	0.47	.	.	.	.	.	.	.	.	T	0.52338	0.1728	M	0.62723	1.935	0.09310	N	1	.	.	.	.	.	.	T	0.44742	-0.9308	4	0.36615	T	0.2	.	.	.	.	.	.	.	.	F	290	ENSP00000433597:L290F	ENSP00000433597:L290F	L	-	1	0	RP11-82O18.1	15365202	.	.	.	.	.	.	.	.	.	.	.	.	CTC		0.562	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1			5	96	0	0	0	1	0	5	96				
ZNF585A	199704	broad.mit.edu	37	19	37647149	37647149	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:37647149T>C	ENST00000356958.4	-	3	439	c.181A>G	c.(181-183)Agc>Ggc	p.S61G	ZNF585A_ENST00000355533.2_Missense_Mutation_p.S6G|ZNF585A_ENST00000588723.1_5'UTR|ZNF585A_ENST00000292841.5_Missense_Mutation_p.S6G|ZNF585A_ENST00000392157.2_Missense_Mutation_p.S6G			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	61	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGCAGGTGGCTGTAGGTCTCC	0.522																																						ENST00000356958.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(181-183)Agc>Ggc		zinc finger protein 585A							101.0	83.0	89.0					19																	37647149		2203	4298	6501	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37647149T>C	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.181A>G	19.37:g.37647149T>C	ENSP00000349440:p.Ser61Gly					ZNF585A_ENST00000392157.2_Missense_Mutation_p.S6G|ZNF585A_ENST00000292841.5_Missense_Mutation_p.S6G|ZNF585A_ENST00000588723.1_5'UTR|ZNF585A_ENST00000355533.2_Missense_Mutation_p.S6G	p.S61G			Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		3	439	-			61			KRAB.		Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.181A>G		.	.	.	.	.	.	.	.	.	.	T	14.30	2.493046	0.44352	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.08458	4.5;3.16;3.16;3.09	3.63	1.23	0.21249	Krueppel-associated box (4);	0.500342	0.16933	N	0.193566	T	0.14657	0.0354	L	0.39326	1.205	0.09310	N	1	D	0.57257	0.979	D	0.71414	0.973	T	0.16070	-1.0415	10	0.23302	T	0.38	.	7.5613	0.27853	0.0:0.0:0.4317:0.5683	.	61	Q6P3V2	Z585A_HUMAN	G	61;6;6;6	ENSP00000349440:S61G;ENSP00000292841:S6G;ENSP00000375998:S6G;ENSP00000347724:S6G	ENSP00000292841:S6G	S	-	1	0	ZNF585A	42338989	0.001000	0.12720	0.702000	0.30337	0.897000	0.52465	-0.216000	0.09266	0.427000	0.26145	0.533000	0.62120	AGC		0.522	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		10	30	0	0	0	1	0	10	30				
SAMD4B	55095	broad.mit.edu	37	19	39868449	39868449	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:39868449C>T	ENST00000314471.6	+	10	2464	c.1429C>T	c.(1429-1431)Cgg>Tgg	p.R477W	SAMD4B_ENST00000598913.1_Missense_Mutation_p.R477W|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	477					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CCAGTTTACACGGGTGATGGG	0.592																																						ENST00000314471.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15						c.(1429-1431)Cgg>Tgg		sterile alpha motif domain containing 4B							32.0	32.0	32.0					19																	39868449		2196	4283	6479	SO:0001583	missense	55095						protein binding	g.chr19:39868449C>T		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.1429C>T	19.37:g.39868449C>T	ENSP00000317224:p.Arg477Trp					SAMD4B_ENST00000596368.1_Intron|SAMD4B_ENST00000598913.1_Missense_Mutation_p.R477W	p.R477W	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		10	2464	+	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		477					A5Z0M6|Q6P194	Missense_Mutation	SNP	ENST00000314471.6	37	c.1429C>T	CCDS33020.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895525	0.72639	.	.	ENSG00000179134	ENST00000314471;ENST00000429637	.	.	.	4.72	4.72	0.59763	Smaug, pseudo-HEAT analogous topology (1);	0.000000	0.85682	D	0.000000	T	0.75140	0.3809	M	0.72894	2.215	0.48185	D	0.999601	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.77427	-0.2592	9	0.87932	D	0	.	10.2994	0.43644	0.1966:0.8034:0.0:0.0	.	477;477	Q5PRF9;A5Z0M6	SMAG2_HUMAN;.	W	477	.	ENSP00000317224:R477W	R	+	1	2	SAMD4B	44560289	0.986000	0.35501	1.000000	0.80357	0.996000	0.88848	1.280000	0.33202	2.449000	0.82847	0.467000	0.42956	CGG		0.592	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028		5	53	0	0	0	1	0	5	53				
RREB1	6239	broad.mit.edu	37	6	7230164	7230164	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr6:7230164A>T	ENST00000349384.6	+	10	2146	c.1832A>T	c.(1831-1833)gAg>gTg	p.E611V	RREB1_ENST00000379933.3_Missense_Mutation_p.E611V|RREB1_ENST00000379938.2_Missense_Mutation_p.E611V|RREB1_ENST00000334984.6_Missense_Mutation_p.E611V	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	611					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTGAGCATGGAGGCCAAGATC	0.657																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1831-1833)gAg>gTg		ras responsive element binding protein 1							21.0	23.0	22.0					6																	7230164		2154	4239	6393	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7230164A>T	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.1832A>T	6.37:g.7230164A>T	ENSP00000305560:p.Glu611Val					RREB1_ENST00000349384.6_Missense_Mutation_p.E611V|RREB1_ENST00000379933.3_Missense_Mutation_p.E611V|RREB1_ENST00000334984.6_Missense_Mutation_p.E611V	p.E611V	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			10	2369	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	611					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.1832A>T	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.012027	0.54468	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.12879	2.76;2.72;2.76;2.64;2.81	5.13	5.13	0.70059	.	0.194908	0.34555	N	0.003871	T	0.17152	0.0412	L	0.57536	1.79	0.38014	D	0.934633	P;P;B	0.52170	0.929;0.951;0.158	P;P;B	0.54210	0.745;0.677;0.066	T	0.00842	-1.1544	10	0.49607	T	0.09	-39.7771	15.1159	0.72401	1.0:0.0:0.0:0.0	.	611;611;611	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	V	611	ENSP00000369265:E611V;ENSP00000369270:E611V;ENSP00000305560:E611V;ENSP00000335574:E611V;ENSP00000419511:E611V	ENSP00000335574:E611V	E	+	2	0	RREB1	7175163	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.294000	0.59043	2.140000	0.66376	0.533000	0.62120	GAG		0.657	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			4	53	0	0	0	1	0	4	53				
LILRP2	79166	broad.mit.edu	37	19	55221397	55221397	+	RNA	SNP	G	G	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:55221397G>C	ENST00000413439.1	+	0	1177									leukocyte immunoglobulin-like receptor pseudogene 2																		CCCCTGGGGAGAATCTGACCC	0.627																																					Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			0							g.chr19:55221397G>C	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221397G>C														0	1177	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.627	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		14	23	0	0	0	1	0	14	23				
HMGN3	9324	broad.mit.edu	37	6	79918282	79918282	+	Silent	SNP	C	C	G	rs114465555		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr6:79918282C>G	ENST00000344726.5	-	3	206	c.78G>C	c.(76-78)cgG>cgC	p.R26R	HMGN3_ENST00000275036.7_Silent_p.R26R	NM_001201362.1|NM_001201363.1|NM_004242.3	NP_001188291.1|NP_001188292.1|NP_004233.1	Q15651	HMGN3_HUMAN	high mobility group nucleosomal binding domain 3	26					chromatin modification (GO:0016568)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|thyroid hormone receptor binding (GO:0046966)			central_nervous_system(1)|kidney(2)|lung(1)	4		all_cancers(76;0.000116)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0393)		BRCA - Breast invasive adenocarcinoma(397;0.125)		ATCTGGCAGACCGTCTTGTGG	0.353																																						ENST00000344726.5																			0				central_nervous_system(1)|kidney(2)|lung(1)	4						c.(76-78)cgG>cgC		high mobility group nucleosomal binding domain 3							164.0	164.0	164.0					6																	79918282		2203	4300	6503	SO:0001819	synonymous_variant	9324				chromatin modification	chromatin|cytoplasm|nucleus	DNA binding|thyroid hormone receptor binding	g.chr6:79918282C>G	L40357	CCDS4988.1, CCDS4989.1, CCDS75485.1	6q14.3	2011-07-01	2002-07-25	2002-07-26	ENSG00000118418	ENSG00000118418		"""High-mobility group / Canonical"""	12312	protein-coding gene	gene with protein product		604502	"""thyroid hormone receptor interactor 7"""	TRIP7		7776974, 11356838	Standard	NM_004242		Approved		uc021zbz.1	Q15651	OTTHUMG00000015073	ENST00000344726.5:c.78G>C	6.37:g.79918282C>G						HMGN3_ENST00000275036.7_Silent_p.R26R	p.R26R	NM_001201362.1|NM_001201363.1|NM_004242.3	NP_001188291.1|NP_001188292.1|NP_004233.1	Q15651	HMGN3_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.125)	3	206	-		all_cancers(76;0.000116)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0393)	26					B2RD37|Q5HYD3|Q7RTT0|Q969M5|Q9BZT7	Silent	SNP	ENST00000344726.5	37	c.78G>C	CCDS4988.1																																																																																				0.353	HMGN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041300.1	NM_004242		27	100	0	0	0	1	0	27	100				
FRAS1	80144	broad.mit.edu	37	4	79362391	79362391	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr4:79362391G>C	ENST00000325942.6	+	41	6045	c.5605G>C	c.(5605-5607)Gat>Cat	p.D1869H	FRAS1_ENST00000264895.6_Missense_Mutation_p.D1869H	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1869					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCTCCAGAGAGATGCCATCAT	0.423																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(5605-5607)Gat>Cat		Fraser syndrome 1							92.0	85.0	87.0					4																	79362391		1906	4119	6025	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79362391G>C	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.5605G>C	4.37:g.79362391G>C	ENSP00000326330:p.Asp1869His					FRAS1_ENST00000325942.6_Missense_Mutation_p.D1869H	p.D1869H	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			41	6045	+			1868					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.5605G>C	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	4.001205|4.001205	0.74818|0.74818	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000325942;ENST00000264895|ENST00000510944;ENST00000512123	T;T|T;T	0.35421|0.28895	1.31;1.31|1.59;1.59	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.101725|.	0.64402|.	D|.	0.000004|.	T|T	0.49626|0.49626	0.1568|0.1568	M|M	0.81112|0.81112	2.525|2.525	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.953|.	T|T	0.34030|0.34030	-0.9845|-0.9845	10|7	0.87932|0.15952	D|T	0|0.53	.|.	15.3963|15.3963	0.74798|0.74798	0.0:0.0:0.8608:0.1392|0.0:0.0:0.8608:0.1392	.|.	1869;1869|.	E9PHH6;A2RRR8|.	.;.|.	H|T	1869|318;97	ENSP00000326330:D1869H;ENSP00000264895:D1869H|ENSP00000422221:R318T;ENSP00000422834:R97T	ENSP00000264895:D1869H|ENSP00000422221:R318T	D|R	+|+	1|2	0|0	FRAS1|FRAS1	79581415|79581415	1.000000|1.000000	0.71417|0.71417	0.926000|0.926000	0.36857|0.36857	0.969000|0.969000	0.65631|0.65631	4.656000|4.656000	0.61483|0.61483	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	GAT|AGA		0.423	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			5	10	0	0	0	1	0	5	10				
F8	2157	broad.mit.edu	37	X	154185347	154185347	+	Missense_Mutation	SNP	C	C	T	rs375945299		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:154185347C>T	ENST00000360256.4	-	11	1837	c.1637G>A	c.(1636-1638)cGg>cAg	p.R546Q		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	546	F5/8 type A 2.|Plastocyanin-like 3.		R -> W (in HEMA; mild; dbSNP:rs28937277). {ECO:0000269|PubMed:10404764, ECO:0000269|PubMed:11748850, ECO:0000269|PubMed:12871415, ECO:0000269|PubMed:7794769, ECO:0000269|PubMed:8449505, ECO:0000269|PubMed:9029040, ECO:0000269|PubMed:9886318}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGTCAGGCACCGAGGATCTGA	0.413																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(1636-1638)cGg>cAg		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	C	GLN/ARG	2,3833		0,2,1630,571	213.0	187.0	196.0		1637	3.3	0.8	X		196	0,6728		0,0,2428,1872	no	missense	F8	NM_000132.3	43	0,2,4058,2443	TT,TC,CC,C		0.0,0.0522,0.0189	probably-damaging	546/2352	154185347	2,10561	2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154185347C>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.1637G>A	X.37:g.154185347C>T	ENSP00000353393:p.Arg546Gln						p.R546Q	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			11	1837	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		546		R -> W (in HEMA; mild; dbSNP:rs28937277).	F5/8 type A 2.|Plastocyanin-like 3.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.1637G>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822460	0.50739	5.22E-4	0.0	ENSG00000185010	ENST00000360256	D	0.98512	-4.97	5.19	3.34	0.38264	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.327394	0.33419	N	0.004926	D	0.96632	0.8901	N	0.13299	0.325	0.23859	N	0.996647	D	0.89917	1.0	D	0.77004	0.989	D	0.91388	0.5133	10	0.26408	T	0.33	-10.9439	8.7791	0.34781	0.0:0.766:0.1471:0.0868	.	546	P00451	FA8_HUMAN	Q	546	ENSP00000353393:R546Q	ENSP00000353393:R546Q	R	-	2	0	F8	153838541	0.128000	0.22383	0.806000	0.32338	0.493000	0.33554	0.565000	0.23578	0.971000	0.38288	0.600000	0.82982	CGG		0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			79	98	0	0	0	1	0	79	98				
UXS1	80146	broad.mit.edu	37	2	106761661	106761661	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:106761661G>C	ENST00000409501.3	-	6	499	c.442C>G	c.(442-444)Ccc>Gcc	p.P148A	UXS1_ENST00000479621.1_5'UTR|UXS1_ENST00000540130.1_Missense_Mutation_p.P91A|UXS1_ENST00000283148.7_Missense_Mutation_p.P153A|UXS1_ENST00000428048.2_Intron			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	148					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						ATGTAGAGGGGCTCCACCACG	0.527																																						ENST00000283148.7																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						c.(457-459)Ccc>Gcc		UDP-glucuronate decarboxylase 1							82.0	81.0	82.0					2																	106761661		1958	4135	6093	SO:0001583	missense	80146				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity	g.chr2:106761661G>C	AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.442C>G	2.37:g.106761661G>C	ENSP00000387019:p.Pro148Ala					UXS1_ENST00000409501.3_Missense_Mutation_p.P148A|UXS1_ENST00000540130.1_Missense_Mutation_p.P91A|UXS1_ENST00000428048.2_Intron|UXS1_ENST00000479621.1_5'UTR	p.P153A	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN			6	554	-			148					Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	c.457C>G	CCDS46378.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783258	0.90282	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000457835	D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04	5.84	5.84	0.93424	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.93377	0.7888	L	0.52905	1.665	0.80722	D	1	P;P	0.43788	0.781;0.817	P;P	0.49528	0.479;0.614	D	0.93404	0.6763	10	0.72032	D	0.01	-5.7279	20.1381	0.98040	0.0:0.0:1.0:0.0	.	153;148	Q8NBZ7-2;Q8NBZ7	.;UXS1_HUMAN	A	153;91;148;91	ENSP00000283148:P153A;ENSP00000438265:P91A;ENSP00000387019:P148A;ENSP00000399316:P91A	ENSP00000283148:P153A	P	-	1	0	UXS1	106128093	1.000000	0.71417	0.999000	0.59377	0.878000	0.50629	9.434000	0.97515	2.763000	0.94921	0.650000	0.86243	CCC		0.527	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3		16	48	0	0	0	1	0	16	48				
NAA15	80155	broad.mit.edu	37	4	140272382	140272382	+	Silent	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr4:140272382C>T	ENST00000296543.5	+	8	1172	c.849C>T	c.(847-849)gcC>gcT	p.A283A	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Silent_p.A283A	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	283					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ATGAGGAAGCCTGGACTAAAT	0.318																																						ENST00000296543.5																			0				NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(847-849)gcC>gcT		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							36.0	36.0	36.0					4																	140272382		1785	4060	5845	SO:0001819	synonymous_variant	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140272382C>T	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.849C>T	4.37:g.140272382C>T						NAA15_ENST00000398947.1_Silent_p.A283A|NAA15_ENST00000480277.2_3'UTR	p.A283A	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN			8	1172	+			283					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Silent	SNP	ENST00000296543.5	37	c.849C>T	CCDS43270.1																																																																																				0.318	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		14	6	0	0	0	1	0	14	6				
ALS2CR11	151254	broad.mit.edu	37	2	202483678	202483678	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:202483678G>T	ENST00000286195.3	-	1	220	c.176C>A	c.(175-177)aCg>aAg	p.T59K	ALS2CR11_ENST00000439140.1_Missense_Mutation_p.T59K|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.T59K|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.T59K	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	59										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CAGGGCCGTCGTGCCCTGGTT	0.647																																						ENST00000439140.1																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						c.(175-177)aCg>aAg		amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11							57.0	56.0	56.0					2																	202483678		2203	4300	6503	SO:0001583	missense	151254							g.chr2:202483678G>T	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.176C>A	2.37:g.202483678G>T	ENSP00000286195:p.Thr59Lys					ALS2CR11_ENST00000286195.3_Missense_Mutation_p.T59K|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.T59K|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.T59K	p.T59K	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN			1	220	-			59					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	ENST00000286195.3	37	c.176C>A	CCDS2349.1	.	.	.	.	.	.	.	.	.	.	G	2.857	-0.237062	0.05944	.	.	ENSG00000155754	ENST00000286195;ENST00000439802;ENST00000439140;ENST00000450242	T;T;T;T	0.43294	0.97;0.95;0.96;0.97	3.54	-4.86	0.03132	.	4.171690	0.00853	N	0.001841	T	0.16642	0.0400	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.04013	0.001;0.0;0.001	T	0.35101	-0.9802	10	0.02654	T	1	.	6.4943	0.22133	0.0:0.445:0.3316:0.2234	.	59;59;59	Q53TS8-2;E9PGG4;Q53TS8	.;.;AL2SA_HUMAN	K	59	ENSP00000286195:T59K;ENSP00000400672:T59K;ENSP00000409937:T59K;ENSP00000399016:T59K	ENSP00000286195:T59K	T	-	2	0	ALS2CR11	202191923	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.487000	0.06505	-1.076000	0.03125	-1.350000	0.01237	ACG		0.647	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		13	37	1	0	4.3838e-07	1	4.97744e-07	13	37				
PCDH15	65217	broad.mit.edu	37	10	55568610	55568610	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr10:55568610T>C	ENST00000395445.1	-	36	5594	c.5200A>G	c.(5200-5202)Agt>Ggt	p.S1734G	PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.S930G|PCDH15_ENST00000395442.1_Missense_Mutation_p.S599G|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395440.1_Missense_Mutation_p.S668G	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCTCCTCACTTTCCACACCT	0.507										HNSCC(58;0.16)																												ENST00000395445.1																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(5200-5202)Agt>Ggt		protocadherin-related 15							149.0	120.0	129.0					10																	55568610		1568	3582	5150	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55568610T>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.5200A>G	10.37:g.55568610T>C	ENSP00000378832:p.Ser1734Gly	HNSCC(58;0.16)				PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.S930G|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.S668G|PCDH15_ENST00000395442.1_Missense_Mutation_p.S599G|PCDH15_ENST00000395438.1_3'UTR	p.S1734G	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN			36	5594	-		Melanoma(3;0.117)|Lung SC(717;0.238)	0					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000395445.1	37	c.5200A>G		.	.	.	.	.	.	.	.	.	.	T	13.65	2.300658	0.40694	.	.	ENSG00000150275	ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440	T;T;T;T	0.67523	-0.27;0.94;-0.27;-0.27	5.33	5.33	0.75918	.	.	.	.	.	T	0.48768	0.1518	N	0.14661	0.345	0.20196	N	0.999929	B;B	0.34015	0.435;0.435	B;B	0.27262	0.078;0.078	T	0.44802	-0.9304	9	0.45353	T	0.12	.	13.2492	0.60041	0.0:0.0:0.0:1.0	.	1732;1734	C6ZEF5;A2A3E2	.;.	G	1734;930;599;668	ENSP00000378832:S1734G;ENSP00000378833:S930G;ENSP00000378829:S599G;ENSP00000378827:S668G	ENSP00000378827:S668G	S	-	1	0	PCDH15	55238616	0.657000	0.27393	0.848000	0.33437	0.932000	0.56968	2.544000	0.45761	2.018000	0.59344	0.460000	0.39030	AGT		0.507	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291335.1	NM_033056		5	8	0	0	0	1	0	5	8				
EFNB2	1948	broad.mit.edu	37	13	107165066	107165066	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr13:107165066A>C	ENST00000245323.4	-	2	366	c.217T>G	c.(217-219)Tat>Gat	p.Y73D		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	73	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TAATATTCATACTGGCCAACA	0.388																																						ENST00000245323.4																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13						c.(217-219)Tat>Gat		ephrin-B2							125.0	132.0	129.0					13																	107165066		2203	4300	6503	SO:0001583	missense	1948				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding	g.chr13:107165066A>C	L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"""Ephrins"""	3227	protein-coding gene	gene with protein product	"""HTK ligand"", ""ligand of eph-related kinase 5"", ""eph-related receptor tyrosine kinase ligand 5"""	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.217T>G	13.37:g.107165066A>C	ENSP00000245323:p.Tyr73Asp						p.Y73D	NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN			2	366	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		73					Q5JV56	Missense_Mutation	SNP	ENST00000245323.4	37	c.217T>G	CCDS9507.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.307117	0.60305	.	.	ENSG00000125266	ENST00000245323	D	0.95205	-3.64	5.41	5.41	0.78517	Cupredoxin (2);	0.268590	0.38326	N	0.001733	D	0.95582	0.8564	M	0.80982	2.52	0.58432	D	0.999996	P	0.41524	0.753	P	0.46796	0.527	D	0.95643	0.8700	10	0.52906	T	0.07	.	15.7499	0.77976	1.0:0.0:0.0:0.0	.	73	P52799	EFNB2_HUMAN	D	73	ENSP00000245323:Y73D	ENSP00000245323:Y73D	Y	-	1	0	EFNB2	105963067	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.558000	0.73942	2.188000	0.69820	0.533000	0.62120	TAT		0.388	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045733.4	NM_004093		8	53	0	0	0	1	0	8	53				
NWD1	284434	broad.mit.edu	37	19	16870140	16870140	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:16870140G>A	ENST00000552788.1	+	5	1874	c.1874G>A	c.(1873-1875)cGc>cAc	p.R625H	NWD1_ENST00000549814.1_Missense_Mutation_p.R625H|NWD1_ENST00000523826.1_Missense_Mutation_p.R419H|NWD1_ENST00000339803.6_Missense_Mutation_p.R490H|NWD1_ENST00000379808.3_Missense_Mutation_p.R625H|NWD1_ENST00000524140.2_Missense_Mutation_p.R625H			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	625	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAGCTGCTGCGCTTCCCGCCC	0.652																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1873-1875)cGc>cAc		NACHT and WD repeat domain containing 1							60.0	46.0	51.0					19																	16870140		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16870140G>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1874G>A	19.37:g.16870140G>A	ENSP00000447224:p.Arg625His					NWD1_ENST00000552788.1_Missense_Mutation_p.R625H|NWD1_ENST00000549814.1_Missense_Mutation_p.R625H|NWD1_ENST00000523826.1_Missense_Mutation_p.R419H|NWD1_ENST00000379808.3_Missense_Mutation_p.R625H|NWD1_ENST00000339803.6_Missense_Mutation_p.R490H	p.R625H	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			7	2292	+			625			NACHT.		C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.1874G>A		.	.	.	.	.	.	.	.	.	.	G	23.9	4.470681	0.84533	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.64991	-0.13;-0.07;-0.13;-0.13;-0.09;-0.09	4.44	4.44	0.53790	.	0.136414	0.47852	D	0.000210	T	0.81465	0.4828	M	0.90198	3.095	0.46774	D	0.999193	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.998;0.996	D	0.85180	0.1003	10	0.72032	D	0.01	-25.0446	12.5617	0.56286	0.0:0.0:1.0:0.0	.	625;625;490	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	H	490;625;625;625;419;625;490	ENSP00000428579:R625H;ENSP00000447548:R625H;ENSP00000369136:R625H;ENSP00000428955:R419H;ENSP00000447224:R625H;ENSP00000340159:R490H	ENSP00000340159:R490H	R	+	2	0	NWD1	16731140	1.000000	0.71417	0.934000	0.37439	0.791000	0.44710	6.038000	0.70964	2.044000	0.60594	0.542000	0.68232	CGC		0.652	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		10	30	0	0	0	1	0	10	30				
PLXNA3	55558	broad.mit.edu	37	X	153692521	153692521	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:153692521G>A	ENST00000369682.3	+	8	1868	c.1693G>A	c.(1693-1695)Gtg>Atg	p.V565M		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	565					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGCACAACGTGCCAGACCT	0.697																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(1693-1695)Gtg>Atg		plexin A3							36.0	28.0	30.0					X																	153692521		2200	4296	6496	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153692521G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.1693G>A	X.37:g.153692521G>A	ENSP00000358696:p.Val565Met						p.V565M	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			8	1868	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		565					Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.1693G>A	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870865	0.51695	.	.	ENSG00000130827	ENST00000369682	T	0.01059	5.39	5.37	5.37	0.77165	.	0.216488	0.38164	N	0.001790	T	0.04137	0.0115	M	0.75615	2.305	0.80722	D	1	D	0.58620	0.983	P	0.49999	0.628	T	0.32561	-0.9902	10	0.72032	D	0.01	.	16.8103	0.85717	0.0:0.0:1.0:0.0	.	565	P51805	PLXA3_HUMAN	M	565	ENSP00000358696:V565M	ENSP00000358696:V565M	V	+	1	0	PLXNA3	153345715	1.000000	0.71417	0.931000	0.37212	0.006000	0.05464	7.446000	0.80609	2.230000	0.72887	0.597000	0.82753	GTG		0.697	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		24	16	0	0	0	1	0	24	16				
NLRC3	197358	broad.mit.edu	37	16	3613453	3613453	+	RNA	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr16:3613453G>A	ENST00000301749.7	-	0	1890				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGCGCTCCTGAAATGCGTGA	0.642																																						ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3							11.0	13.0	13.0					16																	3613453		2044	4184	6228			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3613453G>A	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613453G>A						NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	1890	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37																																																																																						0.642	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		5	4	0	0	0	1	0	5	4				
PURB	5814	broad.mit.edu	37	7	44924851	44924851	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr7:44924851C>G	ENST00000395699.2	-	1	109	c.97G>C	c.(97-99)Gag>Cag	p.E33Q	RP4-673M15.1_ENST00000608450.1_RNA	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	33					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of myeloid cell differentiation (GO:0045637)|transcription, DNA-templated (GO:0006351)	DNA replication factor A complex (GO:0005662)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						GAGGCCAGCTCCTGCGTCTCT	0.697																																						ENST00000395699.2																			0				large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						c.(97-99)Gag>Cag		purine-rich element binding protein B							13.0	15.0	14.0					7																	44924851		2192	4281	6473	SO:0001583	missense	5814				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding	g.chr7:44924851C>G		CCDS5499.1	7p13	2008-07-18			ENSG00000146676	ENSG00000146676			9702	protein-coding gene	gene with protein product		608887				1448097	Standard	NM_033224		Approved	PURBETA	uc003tme.3	Q96QR8	OTTHUMG00000023578	ENST00000395699.2:c.97G>C	7.37:g.44924851C>G	ENSP00000379051:p.Glu33Gln						p.E33Q	NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN			1	109	-			33					A4D2L7	Missense_Mutation	SNP	ENST00000395699.2	37	c.97G>C	CCDS5499.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075004	0.55646	.	.	ENSG00000146676	ENST00000395699	T	0.37058	1.22	3.03	3.03	0.35002	.	0.000000	0.64402	U	0.000002	T	0.61286	0.2335	M	0.84511	2.7	0.58432	D	0.999994	D	0.76494	0.999	D	0.83275	0.996	T	0.68827	-0.5306	10	0.87932	D	0	.	12.0263	0.53373	0.0:1.0:0.0:0.0	.	33	Q96QR8	PURB_HUMAN	Q	33	ENSP00000379051:E33Q	ENSP00000379051:E33Q	E	-	1	0	PURB	44891376	1.000000	0.71417	1.000000	0.80357	0.517000	0.34286	6.885000	0.75606	1.730000	0.51580	0.551000	0.68910	GAG		0.697	PURB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251332.2	NM_033224		3	21	0	0	0	1	0	3	21				
SLC5A1	6523	broad.mit.edu	37	22	32480588	32480588	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr22:32480588G>T	ENST00000266088.4	+	8	1077	c.827G>T	c.(826-828)tGg>tTg	p.W276L	SLC5A1_ENST00000543737.1_Missense_Mutation_p.W149L	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	276					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	GACCTCCCATGGCCTGGGTTC	0.537																																						ENST00000266088.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37	GRCh37	CM961325	SLC5A1	M		c.(826-828)tGg>tTg		solute carrier family 5 (sodium/glucose cotransporter), member 1							104.0	95.0	98.0					22																	32480588		2203	4300	6503	SO:0001583	missense	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32480588G>T		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.827G>T	22.37:g.32480588G>T	ENSP00000266088:p.Trp276Leu					SLC5A1_ENST00000543737.1_Missense_Mutation_p.W149L	p.W276L	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN			8	1077	+			276					B2R7E2|B7Z4Q9|B7ZA69	Missense_Mutation	SNP	ENST00000266088.4	37	c.827G>T	CCDS13902.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.411853	0.62511	.	.	ENSG00000100170	ENST00000266088;ENST00000543737	D;D	0.89746	-2.56;-2.56	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.92838	0.7722	M	0.86097	2.795	0.80722	D	1	P	0.51057	0.941	P	0.50825	0.651	D	0.94207	0.7455	10	0.87932	D	0	.	17.4609	0.87620	0.0:0.0:1.0:0.0	.	276	P13866	SC5A1_HUMAN	L	276;149	ENSP00000266088:W276L;ENSP00000444898:W149L	ENSP00000266088:W276L	W	+	2	0	SLC5A1	30810588	1.000000	0.71417	1.000000	0.80357	0.044000	0.14063	9.582000	0.98214	2.432000	0.82394	0.491000	0.48974	TGG		0.537	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		5	53	1	0	0.00116845	1	0.001261	5	53				
MT-ND5	4540	broad.mit.edu	37	M	13367	13367	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrM:13367G>A	ENST00000361567.2	+	1	1031	c.1031G>A	c.(1030-1032)gGg>gAg	p.G344E	MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TP_ENST00000387461.2_RNA|MT-TR_ENST00000387439.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TH_ENST00000387441.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	344					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						TATGTGCTCCGGGTCCATCAT	0.443																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(1030-1032)gGg>gAg		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001583	missense	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:13367G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1031G>A	M.37:g.13367G>A	ENSP00000354813:p.Gly344Glu						p.G344E			P03915	NU5M_HUMAN			1	1031	+			344					Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37	c.1031G>A																																																																																					0.443	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		9	68	0	0	0	1	0	9	68				
TYR	7299	broad.mit.edu	37	11	88924523	88924523	+	Missense_Mutation	SNP	A	A	G	rs61754379		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr11:88924523A>G	ENST00000263321.5	+	2	1475	c.973A>G	c.(973-975)Acc>Gcc	p.T325A	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	325			T -> A (in OCA1B).		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	CCTGAGTTTGACCCAATATGA	0.418																																						ENST00000263321.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	GRCh37	CM971548	TYR	M	rs61754379	c.(973-975)Acc>Gcc		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						116.0	115.0	115.0					11																	88924523		2201	4299	6500	SO:0001583	missense	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88924523A>G	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.973A>G	11.37:g.88924523A>G	ENSP00000263321:p.Thr325Ala					TYR_ENST00000526139.1_3'UTR	p.T325A	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN			2	1475	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	325		T -> A (in OCA1B).			Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.973A>G	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	A	6.967	0.548412	0.13312	.	.	ENSG00000077498	ENST00000263321	D	0.97186	-4.28	5.59	4.44	0.53790	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.196758	0.52532	D	0.000062	D	0.94955	0.8368	L	0.58101	1.795	0.43300	D	0.995297	B	0.13145	0.007	B	0.12837	0.008	D	0.91580	0.5278	9	.	.	.	.	12.776	0.57448	0.863:0.137:0.0:0.0	rs61754379	325	P14679	TYRO_HUMAN	A	325	ENSP00000263321:T325A	.	T	+	1	0	TYR	88564171	0.964000	0.33143	0.943000	0.38184	0.920000	0.55202	3.078000	0.50096	0.930000	0.37217	0.533000	0.62120	ACC		0.418	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		31	79	0	0	0	1	0	31	79				
GRM6	2916	broad.mit.edu	37	5	178413522	178413522	+	Missense_Mutation	SNP	C	C	T	rs369887161		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr5:178413522C>T	ENST00000517717.1	-	9	1771	c.1733G>A	c.(1732-1734)cGc>cAc	p.R578H	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.R578H			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	578					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CCAGCTCAGGCGCACCACAGG	0.697													C|||	1	0.000199681	0.0	0.0	5008	,	,		12943	0.0		0.0	False		,,,				2504	0.001					ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(1732-1734)cGc>cAc		glutamate receptor, metabotropic 6		C	HIS/ARG	1,4393		0,1,2196	15.0	17.0	17.0		1733	1.1	0.0	5		17	0,8588		0,0,4294	no	missense	GRM6	NM_000843.3	29	0,1,6490	TT,TC,CC		0.0,0.0228,0.0077	possibly-damaging	578/878	178413522	1,12981	2197	4294	6491	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178413522C>T	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1733G>A	5.37:g.178413522C>T	ENSP00000430767:p.Arg578His					RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.R578H	p.R578H	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	8	1911	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	578						Missense_Mutation	SNP	ENST00000517717.1	37	c.1733G>A	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471426	0.43942	2.28E-4	0.0	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.88277	-2.36;-2.36	4.97	1.08	0.20341	.	.	.	.	.	D	0.85431	0.5695	N	0.19112	0.55	0.30624	N	0.758217	D;B	0.76494	0.999;0.0	P;B	0.62435	0.902;0.002	T	0.78393	-0.2221	9	0.33141	T	0.24	.	4.4054	0.11407	0.0:0.4163:0.3296:0.2541	.	734;578	E7EX65;O15303	.;GRM6_HUMAN	H	734;578;578	ENSP00000231188:R578H;ENSP00000430767:R578H	ENSP00000231188:R578H	R	-	2	0	GRM6	178346128	1.000000	0.71417	0.017000	0.16124	0.916000	0.54674	2.546000	0.45778	0.219000	0.20840	0.462000	0.41574	CGC		0.697	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			21	6	0	0	0	1	0	21	6				
SEPT9	10801	broad.mit.edu	37	17	75471732	75471732	+	Intron	SNP	G	G	A	rs369276902		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr17:75471732G>A	ENST00000427177.1	+	4	847				SEPT9_ENST00000427180.1_Silent_p.T44T|SEPT9_ENST00000592951.1_Intron|SEPT9_ENST00000449803.2_Intron|SEPT9_ENST00000588690.1_Intron|SEPT9_ENST00000431235.2_Intron|SEPT9_ENST00000585930.1_Intron|SEPT9_ENST00000423034.2_Intron|SEPT9_ENST00000592481.1_Intron|SEPT9_ENST00000329047.8_Intron|RP11-75C10.9_ENST00000591110.1_RNA|SEPT9_ENST00000590294.1_Intron|SEPT9_ENST00000590917.1_Intron|SEPT9_ENST00000592420.1_Intron|SEPT9_ENST00000591198.1_Intron|SEPT9_ENST00000541152.2_Intron|SEPT9_ENST00000427674.2_Intron|SEPT9_ENST00000591088.1_Intron	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9						cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GCATTGTTACGAGGCAAAGTA	0.667																																						ENST00000427180.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16						c.(130-132)acG>acA		septin 9							33.0	35.0	35.0					17																	75471732		1568	3582	5150	SO:0001627	intron_variant	10801				cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding	g.chr17:75471732G>A	AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"""Septins"""	7323	protein-coding gene	gene with protein product	"""Ov/Br septin"""	604061	"""MLL septin-like fusion"""	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.722-6494G>A	17.37:g.75471732G>A						SEPT9_ENST00000423034.2_Intron|SEPT9_ENST00000427674.2_Intron|SEPT9_ENST00000591198.1_Intron|SEPT9_ENST00000449803.2_Intron|SEPT9_ENST00000541152.2_Intron|SEPT9_ENST00000590294.1_Intron|SEPT9_ENST00000588690.1_Intron|SEPT9_ENST00000427177.1_Intron|SEPT9_ENST00000592951.1_Intron|SEPT9_ENST00000592481.1_Intron|SEPT9_ENST00000431235.2_Intron|SEPT9_ENST00000590917.1_Intron|SEPT9_ENST00000585930.1_Intron|SEPT9_ENST00000592420.1_Intron|SEPT9_ENST00000329047.8_Intron|SEPT9_ENST00000591088.1_Intron	p.T44T	NM_001113495.1	NP_001106967.1	Q9UHD8	SEPT9_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.153)		1	408	+			235					A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Silent	SNP	ENST00000427177.1	37	c.132G>A	CCDS45790.1																																																																																				0.667	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	NM_006640		7	17	0	0	0	1	0	7	17				
KDR	3791	broad.mit.edu	37	4	55981195	55981195	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr4:55981195C>A	ENST00000263923.4	-	5	799	c.504G>T	c.(502-504)aaG>aaT	p.K168N		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	168	Ig-like C2-type 2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAACAAATCTCTTTTCTGGGT	0.383			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(502-504)aaG>aaT		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						46.0	46.0	46.0					4																	55981195		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55981195C>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.504G>T	4.37:g.55981195C>A	ENSP00000263923:p.Lys168Asn	TSP Lung(20;0.16)					p.K168N	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		5	799	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		168			Ig-like C2-type 2.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.504G>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690348	0.48097	.	.	ENSG00000128052	ENST00000263923	T	0.33438	1.41	5.75	3.07	0.35406	Immunoglobulin-like fold (1);	0.047716	0.85682	D	0.000000	T	0.41650	0.1168	M	0.70595	2.14	0.49582	D	0.999806	D;D	0.63046	0.992;0.983	P;P	0.57283	0.817;0.511	T	0.24905	-1.0147	10	0.32370	T	0.25	.	6.1975	0.20557	0.0:0.612:0.1338:0.2542	.	168;168	P35968-2;P35968	.;VGFR2_HUMAN	N	168	ENSP00000263923:K168N	ENSP00000263923:K168N	K	-	3	2	KDR	55675952	0.934000	0.31675	1.000000	0.80357	0.751000	0.42716	0.263000	0.18478	1.434000	0.47414	0.655000	0.94253	AAG		0.383	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			3	14	1	0	1	1	1	3	14				
LRP1	4035	broad.mit.edu	37	12	57571295	57571295	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr12:57571295C>T	ENST00000243077.3	+	26	4748	c.4282C>T	c.(4282-4284)Cgg>Tgg	p.R1428W		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1428					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CACCGTGCACCGGGAGACCGG	0.667																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(4282-4284)Cgg>Tgg		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						37.0	38.0	37.0					12																	57571295		2203	4299	6502	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57571295C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4282C>T	12.37:g.57571295C>T	ENSP00000243077:p.Arg1428Trp						p.R1428W	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	26	4748	+			1428					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.4282C>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791569	0.70452	.	.	ENSG00000123384	ENST00000243077	D	0.96073	-3.9	5.04	3.18	0.36537	Six-bladed beta-propeller, TolB-like (1);	0.082939	0.47852	D	0.000219	D	0.93220	0.7840	N	0.15975	0.35	0.80722	D	1	D	0.65815	0.995	P	0.57101	0.813	D	0.93014	0.6434	10	0.72032	D	0.01	.	12.2413	0.54544	0.5644:0.4356:0.0:0.0	.	1428	Q07954	LRP1_HUMAN	W	1428	ENSP00000243077:R1428W	ENSP00000243077:R1428W	R	+	1	2	LRP1	55857562	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	1.788000	0.38714	0.685000	0.31468	0.462000	0.41574	CGG		0.667	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		19	31	0	0	0	1	0	19	31				
VPS18	57617	broad.mit.edu	37	15	41192287	41192287	+	Missense_Mutation	SNP	C	C	G	rs373367742		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr15:41192287C>G	ENST00000220509.5	+	4	1610	c.1271C>G	c.(1270-1272)aCg>aGg	p.T424R	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	424					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGCCTGGACACGGTCCTGGCC	0.617																																						ENST00000220509.5																			0				autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1270-1272)aCg>aGg		vacuolar protein sorting 18 homolog (S. cerevisiae)							63.0	69.0	67.0					15																	41192287		2203	4300	6503	SO:0001583	missense	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41192287C>G	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.1271C>G	15.37:g.41192287C>G	ENSP00000220509:p.Thr424Arg					VPS18_ENST00000558474.1_Intron	p.T424R	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	1610	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	424					Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	37	c.1271C>G	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	C	2.555	-0.303156	0.05495	.	.	ENSG00000104142	ENST00000220509	T	0.21031	2.03	5.06	5.06	0.68205	Pep3/Vps18/deep orange (1);	0.141095	0.64402	D	0.000004	T	0.14013	0.0339	N	0.19112	0.55	0.80722	D	1	B	0.18166	0.026	B	0.26416	0.069	T	0.11203	-1.0597	10	0.13853	T	0.58	-15.566	12.6688	0.56857	0.0:0.9131:0.0:0.0869	.	424	Q9P253	VPS18_HUMAN	R	424	ENSP00000220509:T424R	ENSP00000220509:T424R	T	+	2	0	VPS18	38979579	0.994000	0.37717	0.956000	0.39512	0.977000	0.68977	2.759000	0.47573	2.517000	0.84864	0.561000	0.74099	ACG		0.617	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			7	68	0	0	0	1	0	7	68				
AJAP1	55966	broad.mit.edu	37	1	4772161	4772161	+	Silent	SNP	G	G	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr1:4772161G>T	ENST00000378191.4	+	2	612	c.231G>T	c.(229-231)ccG>ccT	p.P77P	AJAP1_ENST00000378190.3_Silent_p.P77P|AJAP1_ENST00000466761.1_3'UTR	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	77					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TCCCGGCCCCGGTGTGGAGCC	0.776																																						ENST00000378191.4																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(229-231)ccG>ccT		adherens junctions associated protein 1							7.0	9.0	8.0					1																	4772161		1591	3455	5046	SO:0001819	synonymous_variant	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772161G>T	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.231G>T	1.37:g.4772161G>T						AJAP1_ENST00000378190.3_Silent_p.P77P|AJAP1_ENST00000466761.1_3'UTR	p.P77P	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	2	612	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	77					Q9Y229	Silent	SNP	ENST00000378191.4	37	c.231G>T	CCDS54.1																																																																																				0.776	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		5	30	1	0	1	1	1	5	30				
ZNF780A	284323	broad.mit.edu	37	19	40580527	40580527	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:40580527T>G	ENST00000595687.2	-	6	2031	c.1822A>C	c.(1822-1824)Act>Cct	p.T608P	ZNF780A_ENST00000594395.1_Missense_Mutation_p.T609P|ZNF780A_ENST00000450241.2_Missense_Mutation_p.T574P|ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.T609P|ZNF780A_ENST00000340963.5_Missense_Mutation_p.T608P	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	608					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TTCTCACCAGTATGCAATTTC	0.413																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1720-1722)Act>Cct		zinc finger protein 780A							131.0	130.0	130.0					19																	40580527		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40580527T>G	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1822A>C	19.37:g.40580527T>G	ENSP00000472189:p.Thr608Pro					ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000595687.2_Missense_Mutation_p.T608P|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.T609P|ZNF780A_ENST00000455521.1_Missense_Mutation_p.T609P|ZNF780A_ENST00000340963.5_Missense_Mutation_p.T608P	p.T574P			O75290	Z780A_HUMAN			6	2031	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		608					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.1720A>C	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	t	15.94	2.982249	0.53827	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.25749	1.78;1.78	1.93	0.74	0.18330	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38295	0.1035	M	0.79475	2.455	0.24595	N	0.993803	P;P	0.44627	0.839;0.81	P;P	0.52424	0.56;0.698	T	0.25082	-1.0142	9	0.87932	D	0	.	4.9174	0.13853	0.2859:0.0:0.0:0.7141	.	609;608	E9PB48;O75290	.;Z780A_HUMAN	P	608;609;608	ENSP00000400997:T609P;ENSP00000341507:T608P	ENSP00000341507:T608P	T	-	1	0	ZNF780A	45272367	0.022000	0.18835	0.052000	0.19188	0.545000	0.35147	1.123000	0.31308	-0.026000	0.13895	0.260000	0.18958	ACT		0.413	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		7	76	0	0	0	1	0	7	76				
DSP	1832	broad.mit.edu	37	6	7585361	7585361	+	Silent	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr6:7585361C>T	ENST00000379802.3	+	24	8207	c.7866C>T	c.(7864-7866)atC>atT	p.I2622I	DSP_ENST00000418664.2_Silent_p.I2023I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2622	4.5 X 38 AA tandem repeats (Domain C).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTGCAGCCATCTTTGACACAG	0.488																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(7864-7866)atC>atT		desmoplakin							64.0	70.0	68.0					6																	7585361		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7585361C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.7866C>T	6.37:g.7585361C>T						DSP_ENST00000418664.2_Silent_p.I2023I	p.I2622I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	8207	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2622			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.7866C>T	CCDS4501.1																																																																																				0.488	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		22	81	0	0	0	1	0	22	81				
MBD1	4152	broad.mit.edu	37	18	47796419	47796419	+	3'UTR	SNP	C	C	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr18:47796419C>A	ENST00000591416.1	-	0	3701				MBD1_ENST00000587605.1_Intron|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000424334.2_Intron|MBD1_ENST00000590208.1_Intron|MBD1_ENST00000585672.1_Intron|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000382948.5_Intron|MBD1_ENST00000347968.3_Intron|MBD1_ENST00000585595.1_Intron|MBD1_ENST00000339998.6_Missense_Mutation_p.D539Y|MBD1_ENST00000353909.3_Intron|MBD1_ENST00000269468.5_Intron			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1						negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						AGATCATTGTCAAAATTACCA	0.408																																						ENST00000339998.6																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1615-1617)Gac>Tac		methyl-CpG binding domain protein 1							126.0	124.0	125.0					18																	47796419		876	1991	2867	SO:0001624	3_prime_UTR_variant	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47796419C>A	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.*1452G>T	18.37:g.47796419C>A						MBD1_ENST00000591416.1_3'UTR|MBD1_ENST00000590208.1_Intron|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000269468.5_Intron|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000585672.1_Intron|MBD1_ENST00000585595.1_Intron|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000424334.2_Intron|MBD1_ENST00000382948.5_Intron|MBD1_ENST00000353909.3_Intron|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000347968.3_Intron	p.D539Y	NM_001204142.1	NP_001191071.1	Q9UIS9	MBD1_HUMAN			14	1753	-			0			TRD.		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	c.1615G>T	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	C	8.290	0.817442	0.16607	.	.	ENSG00000141644	ENST00000339998	D	0.95853	-3.83	3.74	3.74	0.42951	.	.	.	.	.	D	0.96950	0.9004	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.67382	0.951	D	0.96788	0.9580	8	0.87932	D	0	.	11.3399	0.49527	0.0:1.0:0.0:0.0	.	539	Q9UIS9-6	.	Y	539	ENSP00000339546:D539Y	ENSP00000339546:D539Y	D	-	1	0	MBD1	46050417	0.008000	0.16893	0.447000	0.26932	0.231000	0.25187	0.269000	0.18589	2.370000	0.80446	0.563000	0.77884	GAC		0.408	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		7	82	1	0	0.00198382	1	0.00211996	7	82				
TMPRSS15	5651	broad.mit.edu	37	21	19685352	19685352	+	Missense_Mutation	SNP	C	C	T	rs375777008		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr21:19685352C>T	ENST00000284885.3	-	18	2108	c.2075G>A	c.(2074-2076)cGg>cAg	p.R692Q		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	692	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GATTCTGAACCGCACTAAACC	0.448																																						ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(2074-2076)cGg>cAg		transmembrane protease, serine 15		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	144.0	129.0	134.0		2075	3.4	1.0	21		134	0,8600		0,0,4300	no	missense	TMPRSS15	NM_002772.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	692/1020	19685352	1,13005	2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19685352C>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2075G>A	21.37:g.19685352C>T	ENSP00000284885:p.Arg692Gln						p.R692Q	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			18	2108	-			692			SRCR.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.2075G>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	c	0.024	-1.393362	0.01185	2.27E-4	0.0	ENSG00000154646	ENST00000284885	T	0.26660	1.72	5.71	3.36	0.38483	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.070916	0.56097	N	0.000021	T	0.05135	0.0137	N	0.00104	-2.125	0.22982	N	0.998476	B	0.02656	0.0	B	0.01281	0.0	T	0.37079	-0.9721	9	.	.	.	.	11.9635	0.53021	0.0:0.0755:0.0:0.9245	.	692	P98073	ENTK_HUMAN	Q	692	ENSP00000284885:R692Q	.	R	-	2	0	TMPRSS15	18607223	1.000000	0.71417	1.000000	0.80357	0.013000	0.08279	2.271000	0.43364	0.458000	0.26988	-0.960000	0.02634	CGG		0.448	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		7	32	0	0	0	1	0	7	32				
LRCH1	23143	broad.mit.edu	37	13	47262018	47262018	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr13:47262018A>C	ENST00000389798.3	+	6	1051	c.854A>C	c.(853-855)aAg>aCg	p.K285T	LRCH1_ENST00000311191.6_Missense_Mutation_p.K285T|LRCH1_ENST00000389797.3_Missense_Mutation_p.K285T	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	285										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CACATATTTAAGTATCTGAGC	0.373																																						ENST00000311191.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(853-855)aAg>aCg		leucine-rich repeats and calponin homology (CH) domain containing 1							81.0	83.0	83.0					13																	47262018		2203	4300	6503	SO:0001583	missense	23143							g.chr13:47262018A>C	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.854A>C	13.37:g.47262018A>C	ENSP00000374448:p.Lys285Thr					LRCH1_ENST00000389797.3_Missense_Mutation_p.K285T|LRCH1_ENST00000389798.3_Missense_Mutation_p.K285T	p.K285T	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	6	1083	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	285					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	c.854A>C	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.395006	0.83011	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797;ENST00000463929;ENST00000478412	T;T;T;T	0.24538	2.22;2.22;2.22;1.85	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.52517	0.1739	M	0.79011	2.435	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;1.0;0.737	D;D;D;P	0.91635	0.997;0.999;0.999;0.641	T	0.56329	-0.7997	10	0.59425	D	0.04	-22.8362	14.8613	0.70384	1.0:0.0:0.0:0.0	.	285;285;285;285	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	T	285;285;285;31;31	ENSP00000308493:K285T;ENSP00000374448:K285T;ENSP00000374447:K285T;ENSP00000419256:K31T	ENSP00000308493:K285T	K	+	2	0	LRCH1	46160019	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.586000	0.90806	2.179000	0.69175	0.477000	0.44152	AAG		0.373	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		7	29	0	0	0	1	0	7	29				
TRIM56	81844	broad.mit.edu	37	7	100732400	100732400	+	Missense_Mutation	SNP	G	G	A	rs111492335		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr7:100732400G>A	ENST00000306085.6	+	3	2104	c.1807G>A	c.(1807-1809)Gtg>Atg	p.V603M		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	603					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CGGGGACCGCGTGGCTGTCAG	0.692																																					Ovarian(89;1092 1379 22756 38989 39611)	ENST00000306085.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1807-1809)Gtg>Atg		tripartite motif containing 56		G	MET/VAL	1,4003		0,1,2001	36.0	42.0	40.0		1807	3.9	0.9	7	dbSNP_132	40	1,8229		0,1,4114	yes	missense	TRIM56	NM_030961.1	21	0,2,6115	AA,AG,GG		0.0122,0.025,0.0163	possibly-damaging	603/756	100732400	2,12232	2002	4115	6117	SO:0001583	missense	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100732400G>A	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1807G>A	7.37:g.100732400G>A	ENSP00000305161:p.Val603Met						p.V603M	NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN			3	2104	+	Lung NSC(181;0.136)|all_lung(186;0.182)		603					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	ENST00000306085.6	37	c.1807G>A	CCDS43625.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610060	0.46527	2.5E-4	1.22E-4	ENSG00000169871	ENST00000306085	T	0.32988	1.43	3.87	3.87	0.44632	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	T	0.38348	0.1037	N	0.19112	0.55	0.34459	D	0.701578	D	0.89917	1.0	D	0.76575	0.988	T	0.51332	-0.8719	9	0.87932	D	0	.	11.6696	0.51393	0.0:0.0:1.0:0.0	.	603	Q9BRZ2	TRI56_HUMAN	M	603	ENSP00000305161:V603M	ENSP00000305161:V603M	V	+	1	0	TRIM56	100519120	0.999000	0.42202	0.930000	0.37139	0.238000	0.25445	3.505000	0.53356	2.464000	0.83262	0.586000	0.80456	GTG		0.692	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		5	86	0	0	0	1	0	5	86				
PPP2R1A	5518	broad.mit.edu	37	19	52715971	52715971	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:52715971C>T	ENST00000322088.6	+	5	594	c.536C>T	c.(535-537)cCc>cTc	p.P179L	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P124L|PPP2R1A_ENST00000462990.1_5'UTR	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	179	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.P179R(21)|p.P179L(5)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GATGACACCCCCATGGTGCGG	0.612			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		26	Substitution - Missense(26)	p.P179R(21)|p.P179L(5)	endometrium(25)|ovary(1)	NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(535-537)cCc>cTc		protein phosphatase 2, regulatory subunit A, alpha							61.0	52.0	55.0					19																	52715971		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52715971C>T		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.536C>T	19.37:g.52715971C>T	ENSP00000324804:p.Pro179Leu					PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P124L	p.P179L	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	5	594	+			179			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.536C>T	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833937	0.91036	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.16457	2.34;2.34	4.5	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.092820	0.45867	N	0.000326	T	0.46328	0.1387	M	0.87617	2.895	0.80722	D	1	D;P;P	0.76494	0.999;0.945;0.945	D;P;P	0.70935	0.971;0.681;0.681	T	0.54125	-0.8340	10	0.66056	D	0.02	-22.0504	15.1189	0.72426	0.0:1.0:0.0:0.0	.	124;179;179	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	L	169;99;179;124	ENSP00000324804:P179L;ENSP00000415067:P124L	ENSP00000324804:P179L	P	+	2	0	PPP2R1A	57407783	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.760000	0.74939	2.503000	0.84419	0.655000	0.94253	CCC		0.612	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		42	7	0	0	0	1	0	42	7				
GPATCH8	23131	broad.mit.edu	37	17	42478776	42478776	+	Silent	SNP	T	T	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr17:42478776T>C	ENST00000591680.1	-	8	699	c.669A>G	c.(667-669)gtA>gtG	p.V223V	GPATCH8_ENST00000434000.1_Silent_p.V145V	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	223							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CTTCTTCATCTACAGCCACTG	0.418																																						ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(433-435)gtA>gtG		G patch domain containing 8							116.0	121.0	119.0					17																	42478776		2202	4299	6501	SO:0001819	synonymous_variant	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42478776T>C	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.669A>G	17.37:g.42478776T>C						GPATCH8_ENST00000591680.1_Silent_p.V223V	p.V145V			Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	717	-		Prostate(33;0.0181)	223					B9EGP9|O60300|Q8TB99	Silent	SNP	ENST00000591680.1	37	c.435A>G	CCDS32666.1																																																																																				0.418	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		22	63	0	0	0	1	0	22	63				
CNTN5	53942	broad.mit.edu	37	11	99932018	99932018	+	Missense_Mutation	SNP	C	C	T	rs199796384		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr11:99932018C>T	ENST00000524871.1	+	10	1345	c.1055C>T	c.(1054-1056)gCg>gTg	p.A352V	CNTN5_ENST00000528682.1_Missense_Mutation_p.A352V|CNTN5_ENST00000279463.3_Missense_Mutation_p.A352V|CNTN5_ENST00000418526.2_Missense_Mutation_p.A278V|CNTN5_ENST00000527185.1_Missense_Mutation_p.A352V	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	352	Ig-like C2-type 3.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.A352V(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AAATCTCAGGCGGTGCTGGAA	0.433																																						ENST00000524871.1																			2	Substitution - Missense(2)	p.A352V(2)	endometrium(2)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(1054-1056)gCg>gTg		contactin 5							132.0	126.0	128.0					11																	99932018		1921	4130	6051	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99932018C>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.1055C>T	11.37:g.99932018C>T	ENSP00000435637:p.Ala352Val					CNTN5_ENST00000527185.1_Missense_Mutation_p.A352V|CNTN5_ENST00000528682.1_Missense_Mutation_p.A352V|CNTN5_ENST00000418526.2_Missense_Mutation_p.A278V|CNTN5_ENST00000279463.3_Missense_Mutation_p.A352V	p.A352V	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	10	1345	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	352			Ig-like C2-type 3.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.1055C>T	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300010	0.81136	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31	5.51	4.54	0.55810	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.101580	0.64402	D	0.000003	T	0.72195	0.3430	L	0.31845	0.965	0.58432	D	0.999999	D;D;D	0.67145	0.996;0.986;0.996	D;P;D	0.65010	0.931;0.738;0.931	T	0.74281	-0.3716	10	0.59425	D	0.04	.	16.1682	0.81786	0.0:0.824:0.176:0.0	.	352;278;352	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	V	352;352;352;278;352	ENSP00000433575:A352V;ENSP00000436185:A352V;ENSP00000435637:A352V;ENSP00000393229:A278V;ENSP00000279463:A352V	ENSP00000279463:A352V	A	+	2	0	CNTN5	99437228	0.999000	0.42202	0.990000	0.47175	0.977000	0.68977	3.952000	0.56691	2.750000	0.94351	0.585000	0.79938	GCG		0.433	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		35	34	0	0	0	1	0	35	34				
CROCCP2	84809	broad.mit.edu	37	1	16945182	16945184	+	lincRNA	DEL	AAT	AAT	-	rs374889577|rs71803374	byFrequency	TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr1:16945182_16945184delAAT	ENST00000412962.1	-	0	2335_2337				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TACTGATGAAAATAATAACAGAT	0.325														915	0.182708	0.1906	0.2853	5008	,	,		89095	0.0278		0.2157	False		,,,				2504	0.2249					ENST00000412962.1																			0																																																			0							g.chr1:16945182_16945184delAAT	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945185_16945187delAAT														0	2335_2337	-								Q8NF65|Q96FR5|Q9BRE8	RNA	DEL	ENST00000412962.1	37																																																																																						0.325	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	6						3	6	---	---	---	---
ESPNP	284729	broad.mit.edu	37	1	17039464	17039465	+	RNA	INS	-	-	AAAT	rs67904722|rs61399088|rs397818805	byFrequency	TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr1:17039464_17039465insAAAT	ENST00000492551.1	-	0	194					NR_026567.1				espin pseudogene																		gcccagggaagaaatgcagccc	0.535														1420	0.283546	0.2141	0.2983	5008	,	,		44157	0.3938		0.2664	False		,,,				2504	0.271					ENST00000492551.1																			0																																																			0							g.chr1:17039464_17039465insAAAT	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17039465_17039468dupAAAT								NR_026567.1						0	194	-									RNA	INS	ENST00000492551.1	37																																																																																						0.535	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			3	3						3	3	---	---	---	---
RP5-1061H20.5	0	broad.mit.edu	37	1	229360270	229360273	+	RNA	DEL	TGTG	TGTG	-	rs113411142|rs553977551		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr1:229360270_229360273delTGTG	ENST00000430677.1	-	0	302																											tgtgagattctgtgtgtgtgtgtg	0.431																																						ENST00000430677.1																			0																																																			0							g.chr1:229360270_229360273delTGTG																													1.37:g.229360278_229360281delTGTG														0	302	-									RNA	DEL	ENST00000430677.1	37																																																																																						0.431	RP5-1061H20.5-001	KNOWN	basic	antisense	antisense	OTTHUMT00000091837.1			2	4						2	4	---	---	---	---
BCL2L11	10018	broad.mit.edu	37	2	111921771	111921772	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:111921771_111921772insA	ENST00000393256.3	+	4	833_834	c.560_561insA	c.(559-564)ttacgtfs	p.R188fs	BCL2L11_ENST00000308659.8_Frame_Shift_Ins_p.R128fs	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	188					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|brain development (GO:0007420)|cell-matrix adhesion (GO:0007160)|cellular process regulating host cell cycle in response to virus (GO:0060154)|developmental pigmentation (GO:0048066)|ear development (GO:0043583)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of cell cycle (GO:0045787)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic organ morphogenesis (GO:0048563)|regulation of developmental pigmentation (GO:0048070)|regulation of organ growth (GO:0046620)|response to endoplasmic reticulum stress (GO:0034976)|spermatogenesis (GO:0007283)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|thymocyte apoptotic process (GO:0070242)|thymus development (GO:0048538)|tube formation (GO:0035148)	BIM-BCL-2 complex (GO:0097141)|BIM-BCL-xl complex (GO:0097140)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|mitochondrial outer membrane (GO:0005741)				endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						TTACGACTGTTACGTTACATTG	0.436																																						ENST00000393256.3																			0				endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						c.(559-561)tcgfs		BCL2-like 11 (apoptosis facilitator)																																				SO:0001589	frameshift_variant	10018				activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding	g.chr2:111921771_111921772insA	AF032458	CCDS2089.1, CCDS2092.1, CCDS42731.1, CCDS56131.1, CCDS56132.1, CCDS56133.1, CCDS56134.1, CCDS56135.1, CCDS56136.1, CCDS74560.1, CCDS74561.1, CCDS74559.1	2q13	2014-09-17			ENSG00000153094	ENSG00000153094			994	protein-coding gene	gene with protein product		603827				9731710, 9430630	Standard	NM_006538		Approved	BOD, BimL, BimEL, BimS, BIM	uc002tgv.1	O43521	OTTHUMG00000131256	ENST00000393256.3:c.561dupA	2.37:g.111921772_111921772dupA	ENSP00000376943:p.Arg188fs					BCL2L11_ENST00000308659.8_Frame_Shift_Ins_p.S127fs	p.S187fs	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN			4	833_834	+			187					A8K2W2|O43522|Q0MSE7|Q0MSE8|Q0MSE9|Q53R28|Q6JTU6|Q6T851|Q6TE14|Q6TE15|Q6TE16|Q6V402|Q8WYL6|Q8WYL7|Q8WYL8|Q8WYL9|Q8WYM0|Q8WYM1	Frame_Shift_Ins	INS	ENST00000393256.3	37	c.560_561insA	CCDS2089.1																																																																																				0.436	BCL2L11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254022.3			25	44						25	44	---	---	---	---
LOC101929947	101929947	broad.mit.edu	37	2	173400097	173400097	+	RNA	DEL	C	C	-			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:173400097delC	ENST00000450443.1	-	0	508				AC093818.1_ENST00000442417.1_RNA																							ggaggaatggcccaggctgcc	0.527																																						ENST00000450443.1																			0																																																			0							g.chr2:173400097delC																													2.37:g.173400097delC						AC093818.1_ENST00000442417.1_RNA								0	508	-									RNA	DEL	ENST00000450443.1	37																																																																																						0.527	AC093818.1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000333834.2			2	4						2	4	---	---	---	---
LMCD1-AS1	100288428	broad.mit.edu	37	3	8482203	8482204	+	RNA	INS	-	-	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr3:8482203_8482204insG	ENST00000420095.1	-	0	571				LMCD1-AS1_ENST00000446281.1_RNA|LMCD1-AS1_ENST00000452802.1_RNA	NR_033378.1				LMCD1 antisense RNA 1 (head to head)																		gtctgggaggtgggggtgcctc	0.787																																						ENST00000420095.1																			0																																																			0							g.chr3:8482203_8482204insG			3p26.1	2012-11-05			ENSG00000227110	ENSG00000227110		"""Long non-coding RNAs"""	44477	non-coding RNA	RNA, long non-coding							Standard	NR_033378		Approved		uc021wso.1		OTTHUMG00000154968		3.37:g.8482208_8482208dupG						LMCD1-AS1_ENST00000446281.1_RNA|LMCD1-AS1_ENST00000452802.1_RNA		NR_033378.1						0	571	-									RNA	INS	ENST00000420095.1	37																																																																																						0.787	LMCD1-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000337845.1	NR_033378		4	4						4	4	---	---	---	---
GUSBP1	728411	broad.mit.edu	37	5	21534424	21534425	+	RNA	INS	-	-	AG	rs67287025|rs111301575|rs77412101|rs75887149		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr5:21534424_21534425insAG	ENST00000607545.1	+	0	314					NR_027026.1		Q15486	GUSP1_HUMAN	glucuronidase, beta pseudogene 1						carbohydrate metabolic process (GO:0005975)|nervous system development (GO:0007399)|skeletal system development (GO:0001501)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										ACCCAACGCGAAGAGACTCCTT	0.485																																						ENST00000607545.1																			0																																																			0							g.chr5:21534424_21534425insAG	BC064850, X75940		5p14.3	2012-10-04			ENSG00000183666	ENSG00000183666			13670	pseudogene	pseudogene						8565635	Standard	NR_027026		Approved		uc010iub.3	Q15486	OTTHUMG00000162474		5.37:g.21534427_21534428dupAG								NR_027026.1						0	314	+								A6NLY8|A8K1B7|Q969T8|Q9BUH2	RNA	INS	ENST00000607545.1	37																																																																																						0.485	GUSBP1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470546.1	NG_008324		4	2						4	2	---	---	---	---
RAPGEF6	51735	broad.mit.edu	37	5	130785715	130785715	+	Intron	DEL	C	C	-			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr5:130785715delC	ENST00000509018.1	-	21	3406				RAPGEF6_ENST00000507093.1_Splice_Site|RAPGEF6_ENST00000512052.1_Splice_Site|CTC-432M15.3_ENST00000514667.1_Intron|RAPGEF6_ENST00000307984.5_Splice_Site|RAPGEF6_ENST00000308008.6_Intron|RAPGEF6_ENST00000296859.6_Splice_Site	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6						positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCTACACTTACCCCAGACTCC	0.408																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000307984.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.e23+1		Rap guanine nucleotide exchange factor (GEF) 6							161.0	139.0	146.0					5																	130785715		692	1591	2283	SO:0001627	intron_variant	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130785715delC	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.3200+3031G>-	5.37:g.130785715delC						RAPGEF6_ENST00000509018.1_Intron|RAPGEF6_ENST00000296859.6_Splice_Site|RAPGEF6_ENST00000507093.1_Splice_Site|FNIP1_ENST00000514667.1_Intron|RAPGEF6_ENST00000308008.6_Intron|RAPGEF6_ENST00000512052.1_Splice_Site		NM_001164387.1	NP_001157859.1	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	23	3445	-								A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Splice_Site	DEL	ENST00000509018.1	37		CCDS34225.1																																																																																				0.408	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		2	4						2	4	---	---	---	---
SLC45A4	57210	broad.mit.edu	37	8	142228295	142228312	+	In_Frame_Del	DEL	CCCCGCTGGAGGTGGTGG	CCCCGCTGGAGGTGGTGG	-	rs371249642		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr8:142228295_142228312delCCCCGCTGGAGGTGGTGG	ENST00000024061.3	-	4	1581_1598	c.1274_1291delCCACCACCTCCAGCGGGG	c.(1273-1293)gccaccacctccagcggggac>gac	p.ATTSSG425del	SLC45A4_ENST00000433583.2_In_Frame_Del_p.ATTSSG418del|SLC45A4_ENST00000517878.1_In_Frame_Del_p.ATTSSG476del|SLC45A4_ENST00000519067.1_In_Frame_Del_p.ATTSSG425del	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CTCTCGGTGTCCCCGCTGGAGGTGGTGGCCCCGCTCTG	0.679																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1273-1293)gac>g		solute carrier family 45, member 4																																				SO:0001651	inframe_deletion	57210				transport	integral to membrane		g.chr8:142228295_142228312delCCCCGCTGGAGGTGGTGG	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1274_1291delCCACCACCTCCAGCGGGG	8.37:g.142228295_142228312delCCCCGCTGGAGGTGGTGG	ENSP00000024061:p.Ala425_Gly430del					SLC45A4_ENST00000517878.1_In_Frame_Del_p.ATTSSGD476del|SLC45A4_ENST00000024061.3_In_Frame_Del_p.ATTSSGD425del|SLC45A4_ENST00000433583.2_In_Frame_Del_p.ATTSSGD418del	p.ATTSSGD425del			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		4	1577_1594	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		476					Q6ZRI2|Q9ULU3	In_Frame_Del	DEL	ENST00000024061.3	37	c.1274_1291delCCACCACCTCCAGCGGGG	CCDS34948.1																																																																																				0.679	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		7	106						7	106	---	---	---	---
LINC01410	103352539	broad.mit.edu	37	9	66466800	66466800	+	lincRNA	DEL	G	G	-	rs142111527		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr9:66466800delG	ENST00000424345.1	+	0	1433																											CCTCATCAGAGGACCCCAGAT	0.522																																						ENST00000424345.1																			0																																																			0							g.chr9:66466800delG																													9.37:g.66466800delG														0	1433	+									RNA	DEL	ENST00000424345.1	37																																																																																						0.522	RP11-262H14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000128851.1			2	4						2	4	---	---	---	---
RP11-508N22.9	0	broad.mit.edu	37	10	38454833	38454834	+	lincRNA	INS	-	-	GTGT	rs200349875|rs3041929	byFrequency	TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr10:38454833_38454834insGTGT	ENST00000419779.1	+	0	225																											CACTTTGCGGGgtgtgtgtgtg	0.465														3553	0.709465	0.6959	0.696	5008	,	,		16687	0.6369		0.7674	False		,,,				2504	0.7526					ENST00000419779.1																			0																																																			0							g.chr10:38454833_38454834insGTGT																													10.37:g.38454838_38454841dupGTGT														0	225	+									RNA	INS	ENST00000419779.1	37																																																																																						0.465	RP11-508N22.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047618.1			3	3						3	3	---	---	---	---
TPTE2P6	374491	broad.mit.edu	37	13	25157747	25157748	+	RNA	INS	-	-	T	rs74332804		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr13:25157747_25157748insT	ENST00000453498.1	+	0	554				TPTE2P6_ENST00000440905.1_RNA																							AAAATGGGAGGTTTTTTTAGGG	0.411																																						ENST00000453498.1																			0																																																			0							g.chr13:25157747_25157748insT																													13.37:g.25157754_25157754dupT														0	554	+									RNA	INS	ENST00000453498.1	37																																																																																						0.411	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			2	4						2	4	---	---	---	---
OTX2-AS1	100309464	broad.mit.edu	37	14	57509058	57509064	+	RNA	DEL	TCCAAGC	TCCAAGC	-	rs369895963	byFrequency	TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr14:57509058_57509064delTCCAAGC	ENST00000554725.1	+	0	344									OTX2 antisense RNA 1 (head to head)																		CCAGAAGCCTTCCAAGCTCCAAGCCCT	0.483														289	0.0577077	0.0681	0.0548	5008	,	,		16601	0.003		0.1352	False		,,,				2504	0.0225					ENST00000554725.1																			0																																																			0							g.chr14:57509058_57509064delTCCAAGC	BC041486		14q22.3	2012-10-19	2012-10-17		ENSG00000248550	ENSG00000248550		"""Long non-coding RNAs"", ""-"""	43906	non-coding RNA	RNA, long non-coding			"""OTX2 antisense RNA 1 (non-protein coding)"", ""OTX2 antisense RNA 1"""			15703187	Standard	NR_029385		Approved	OTX2OS1	uc001xcr.3		OTTHUMG00000171304		14.37:g.57509065_57509071delTCCAAGC														0	344	+									RNA	DEL	ENST00000554725.1	37																																																																																						0.483	OTX2-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000412895.1	NR_029385		5	8						5	8	---	---	---	---
RP11-509A17.3	0	broad.mit.edu	37	15	20563408	20563417	+	lincRNA	DEL	CCTCTCCCTT	CCTCTCCCTT	-	rs537093760|rs537797892	byFrequency	TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr15:20563408_20563417delCCTCTCCCTT	ENST00000557528.1	+	0	1812				AC026495.1_ENST00000581090.1_RNA																							CCTCCCAGAGcctctcccttcctctccctt	0.671														795	0.158746	0.1793	0.1427	5008	,	,		62278	0.1319		0.1322	False		,,,				2504	0.1973					ENST00000581090.1																			0																																																			0							g.chr15:20563408_20563417delCCTCTCCCTT																													15.37:g.20563418_20563427delCCTCTCCCTT														0	48_57	+									RNA	DEL	ENST00000557528.1	37																																																																																						0.671	RP11-509A17.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414658.1			3	4						3	4	---	---	---	---
SMG1P5	595101	broad.mit.edu	37	16	30307147	30307147	+	RNA	DEL	A	A	-			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr16:30307147delA	ENST00000411546.3	-	0	1130					NR_002453.4																						attacatctcaaaaaaaaaaa	0.398																																						ENST00000411546.3																			0																																																			0							g.chr16:30307147delA																													16.37:g.30307147delA								NR_002453.4						0	1130	-									RNA	DEL	ENST00000411546.3	37																																																																																						0.398	RP11-347C12.2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000434110.1			2	4						2	4	---	---	---	---
VPS35	55737	broad.mit.edu	37	16	46708574	46708575	+	Splice_Site	INS	-	-	A	rs569369937		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr16:46708574_46708575insA	ENST00000299138.7	-	9	973		c.e9-2		VPS35_ENST00000568642.1_Splice_Site	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)						cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AAAGCTAATCTAAAAAAAAAAA	0.342																																						ENST00000299138.7																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.e9-2		vacuolar protein sorting 35 homolog (S. cerevisiae)																																				SO:0001630	splice_region_variant	55737				protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	g.chr16:46708574_46708575insA	AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"""Parkinson disease"""	13487	protein-coding gene	gene with protein product		601501	"""vacuolar protein sorting 35 (yeast homolog)"", ""vacuolar protein sorting 35 (yeast)"""			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.915-2->T	16.37:g.46708585_46708585dupA						VPS35_ENST00000568642.1_Splice_Site		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN			9	973	-		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)						Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Splice_Site	INS	ENST00000299138.7	37		CCDS10721.1																																																																																				0.342	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3		Intron	3	3						3	3	---	---	---	---
FLJ35934	400579	broad.mit.edu	37	17	18315107	18315108	+	lincRNA	INS	-	-	CT	rs113907775|rs71283274	byFrequency	TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr17:18315107_18315108insCT	ENST00000577684.1	+	0	635_636																											gccctcttctcctcactgtctt	0.604														1367	0.272963	0.4153	0.2911	5008	,	,		21384	0.0724		0.3091	False		,,,				2504	0.2372					ENST00000577684.1																			0																																																			0							g.chr17:18315107_18315108insCT																													17.37:g.18315108_18315109dupCT														0	635_636	+									RNA	INS	ENST00000577684.1	37																																																																																						0.604	RP1-37N7.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000447480.1			3	5						3	5	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11048067	11048070	+	RNA	DEL	CTCT	CTCT	-	rs111346735|rs9325236		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr21:11048067_11048070delCTCT	ENST00000470054.1	-	0	659							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		tagactaaagctctctgagtttca	0.333																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11048067_11048070delCTCT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11048067_11048070delCTCT												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	659	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.333	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	2						4	2	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11054219	11054220	+	RNA	INS	-	-	A	rs151065601		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr21:11054219_11054220insA	ENST00000470054.1	-	0	487							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTAAATGAAGTAAAGGGAGCAA	0.361																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11054219_11054220insA	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11054222_11054222dupA												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	487	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.361	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	5						3	5	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11092162	11092164	+	RNA	DEL	TTG	TTG	-	rs142087979	byFrequency	TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr21:11092162_11092164delTTG	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCTAGGTTTTTTGTTGTTGtttg	0.404														2165	0.432308	0.4803	0.3977	5008	,	,		57910	0.4177		0.4205	False		,,,				2504	0.4192					ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11092162_11092164delTTG	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11092168_11092170delTTG												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.404	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	6						3	6	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11093134	11093135	+	RNA	INS	-	-	C	rs61073561|rs139629046|rs397730308	byFrequency	TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr21:11093134_11093135insC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTTCTCCCCTACCCCCCACAAC	0.401													cccccc|CCCCCC|CCCCCCC|insertion	1921	0.383586	0.3101	0.4452	5008	,	,		116667	0.3661		0.4732	False		,,,				2504	0.365					ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11093134_11093135insC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11093140_11093140dupC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.401	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	8						4	8	---	---	---	---
PDE9A	5152	broad.mit.edu	37	21	44071343	44071343	+	5'Flank	DEL	C	C	-			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr21:44071343delC	ENST00000291539.6	+	0	0				PDE9A_ENST00000335512.4_5'Flank|PDE9A_ENST00000380328.2_5'Flank|PDE9A_ENST00000349112.3_5'Flank|PDE9A_ENST00000398234.3_5'Flank|PDE9A_ENST00000398236.3_5'Flank|AP001626.2_ENST00000424890.1_RNA|PDE9A_ENST00000398232.3_5'Flank|PDE9A_ENST00000398225.3_5'Flank|PDE9A_ENST00000539837.1_5'Flank|PDE9A_ENST00000398227.3_5'Flank|PDE9A_ENST00000328862.6_5'Flank|PDE9A_ENST00000398224.3_5'Flank|PDE9A_ENST00000398229.3_5'Flank|PDE9A_ENST00000335440.6_5'Flank	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A						blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	cgcggggttgcccccgtcacc	0.632																																						ENST00000424890.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr21:44071343delC	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825		21.37:g.44071343delC	Exception_encountered													0	11	-								B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	RNA	DEL	ENST00000291539.6	37		CCDS13690.1																																																																																				0.632	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			2	4						2	4	---	---	---	---
APEX2	27301	broad.mit.edu	37	X	55033376	55033379	+	Frame_Shift_Del	DEL	GACG	GACG	-			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:55033376_55033379delGACG	ENST00000374987.3	+	6	1131_1134	c.1065_1068delGACG	c.(1063-1068)tcgacgfs	p.ST355fs	ALAS2_ENST00000498636.1_5'Flank	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	355					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)	p.T356T(1)		breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						TGGAGCAGTCGACGCTGCAGCACA	0.569								Other BER factors																														ENST00000374987.3																			1	Substitution - coding silent(1)	p.T356T(1)	lung(1)	breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						c.(1063-1068)tcfs	Other BER factors	APEX nuclease (apurinic/apyrimidinic endonuclease) 2																																				SO:0001589	frameshift_variant	27301				cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding	g.chrX:55033376_55033379delGACG	AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 2"""	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.1065_1068delGACG	X.37:g.55033376_55033379delGACG	ENSP00000364126:p.Ser355fs						p.ST355fs	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN			6	1131_1134	+			355					Q9Y5X7	Frame_Shift_Del	DEL	ENST00000374987.3	37	c.1065_1068delGACG	CCDS14365.1																																																																																				0.569	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056845.1			14	52						14	52	---	---	---	---
