#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
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			4	129	0	0	0	1	0	4	129				
SCAF11	9169	broad.mit.edu	37	12	46315926	46315926	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr12:46315926C>T	ENST00000369367.3	-	15	4530	c.4297G>A	c.(4297-4299)Gtt>Att	p.V1433I	SCAF11_ENST00000550629.1_Intron|SCAF11_ENST00000465950.1_Missense_Mutation_p.V1118I|SCAF11_ENST00000549162.1_Missense_Mutation_p.V1241I|SCAF11_ENST00000419565.2_Missense_Mutation_p.V1433I	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1433					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TAGGCTTTAACCAGATTTGCC	0.378																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(3352-3354)Gtt>Att		SR-related CTD-associated factor 11							109.0	105.0	107.0					12																	46315926		2203	4300	6503	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46315926C>T	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.4297G>A	12.37:g.46315926C>T	ENSP00000358374:p.Val1433Ile					SCAF11_ENST00000419565.2_Missense_Mutation_p.V1433I|SCAF11_ENST00000369367.3_Missense_Mutation_p.V1433I|SCAF11_ENST00000549162.1_Missense_Mutation_p.V1241I|SCAF11_ENST00000550629.1_Intron	p.V1118I			Q99590	SCAFB_HUMAN			5	4561	-			1433					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.3352G>A	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680338	0.88542	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565	T;T;T;T	0.64085	-0.08;1.42;-0.08;1.42	5.06	5.06	0.68205	.	0.000000	0.50627	D	0.000109	T	0.77219	0.4098	M	0.63843	1.955	0.58432	D	0.999993	D	0.76494	0.999	D	0.81914	0.995	T	0.76080	-0.3090	10	0.40728	T	0.16	-13.3583	18.7885	0.91964	0.0:1.0:0.0:0.0	.	1433	Q99590	SCAFB_HUMAN	I	1118;1433;1241;1433	ENSP00000449812:V1118I;ENSP00000358374:V1433I;ENSP00000448864:V1241I;ENSP00000413036:V1433I	ENSP00000358374:V1433I	V	-	1	0	SCAF11	44602193	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.536000	0.67180	2.505000	0.84491	0.655000	0.94253	GTT		0.378	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		36	68	0	0	0	1	0	36	68				
CASC5	57082	broad.mit.edu	37	15	40913870	40913870	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr15:40913870T>C	ENST00000346991.5	+	11	1876	c.1486T>C	c.(1486-1488)Tct>Cct	p.S496P	CASC5_ENST00000399668.2_Missense_Mutation_p.S470P|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	496	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AGATGCTATGTCTTCTCTCAC	0.338																																						ENST00000346991.5																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(1486-1488)Tct>Cct		cancer susceptibility candidate 5							51.0	49.0	50.0					15																	40913870		1846	4081	5927	SO:0001583	missense	57082				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	g.chr15:40913870T>C	AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.1486T>C	15.37:g.40913870T>C	ENSP00000335463:p.Ser496Pro					CASC5_ENST00000399668.2_Missense_Mutation_p.S470P|CASC5_ENST00000527044.1_3'UTR	p.S496P			Q8NG31	CASC5_HUMAN		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)	11	1876	+		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	496			Interaction with BUB1 and BUB1B.		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	c.1486T>C	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	T	7.398	0.632165	0.14322	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.07800	3.18;3.16	5.94	1.33	0.21861	.	1.023910	0.07781	N	0.953452	T	0.06735	0.0172	L	0.33485	1.01	0.09310	N	1	B;B;B	0.14012	0.005;0.005;0.009	B;B;B	0.16722	0.009;0.009;0.016	T	0.42699	-0.9436	10	0.30854	T	0.27	.	4.6194	0.12442	0.1483:0.3811:0.0:0.4707	.	470;496;470	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	P	496;470;470	ENSP00000335463:S496P;ENSP00000382576:S470P	ENSP00000260369:S470P	S	+	1	0	CASC5	38701162	0.000000	0.05858	0.019000	0.16419	0.007000	0.05969	0.044000	0.13992	0.560000	0.29169	0.455000	0.32223	TCT		0.338	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		32	35	0	0	0	1	0	32	35				
COL7A1	1294	broad.mit.edu	37	3	48618030	48618030	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr3:48618030C>G	ENST00000328333.8	-	54	5143	c.5036G>C	c.(5035-5037)gGa>gCa	p.G1679A	MIR711_ENST00000390201.1_RNA|COL7A1_ENST00000454817.1_Missense_Mutation_p.G1679A	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1679	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCCATCCTCTCCAGGATCTCC	0.567																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(5035-5037)gGa>gCa		collagen, type VII, alpha 1							129.0	114.0	119.0					3																	48618030		2202	4300	6502	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48618030C>G	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.5036G>C	3.37:g.48618030C>G	ENSP00000332371:p.Gly1679Ala					COL7A1_ENST00000454817.1_Missense_Mutation_p.G1679A	p.G1679A	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	54	5143	-			1679			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.5036G>C	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813166	0.50527	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.99329	-4.57;-5.75	5.24	5.24	0.73138	.	0.000000	0.42682	D	0.000670	D	0.99521	0.9829	H	0.94582	3.555	0.39495	D	0.968105	D	0.89917	1.0	D	0.87578	0.998	D	0.98586	1.0652	10	0.87932	D	0	.	11.7022	0.51577	0.2747:0.7253:0.0:0.0	.	1679	Q02388	CO7A1_HUMAN	A	1679	ENSP00000332371:G1679A;ENSP00000412569:G1679A	ENSP00000332371:G1679A	G	-	2	0	COL7A1	48593034	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.717000	0.54911	2.606000	0.88127	0.655000	0.94253	GGA		0.567	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		3	36	0	0	0	1	0	3	36				
SYNCRIP	10492	broad.mit.edu	37	6	86324825	86324825	+	Silent	SNP	A	A	G			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr6:86324825A>G	ENST00000369622.3	-	11	2021	c.1521T>C	c.(1519-1521)gcT>gcC	p.A507A	SYNCRIP_ENST00000355238.6_Silent_p.A507A|RP11-321N4.5_ENST00000503906.1_Missense_Mutation_p.L43P	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	507	8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CTCTGGATGGAGCAGCACCCC	0.542																																						ENST00000503906.1																			0											c.(127-129)cTc>cCc									71.0	69.0	70.0					6																	86324825		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr6:86324825A>G	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1521T>C	6.37:g.86324825A>G						SYNCRIP_ENST00000355238.6_Silent_p.A507A|SYNCRIP_ENST00000369622.3_Silent_p.A507A	p.L43P							1	127	-								E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	ENST00000369622.3	37	c.128T>C	CCDS5005.1																																																																																				0.542	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		20	73	0	0	0	1	0	20	73				
POTEC	388468	broad.mit.edu	37	18	14542921	14542921	+	Silent	SNP	G	G	A			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr18:14542921G>A	ENST00000358970.5	-	1	224	c.225C>T	c.(223-225)agC>agT	p.S75S	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	75								p.S75S(1)|p.S75R(1)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCTCGTGCCGCTCCCCCTGC	0.567																																						ENST00000358970.5																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.S75S(1)|p.S75R(1)	lung(1)|kidney(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(223-225)agC>agT		POTE ankyrin domain family, member C							43.0	53.0	50.0					18																	14542921		692	1591	2283	SO:0001819	synonymous_variant	388468							g.chr18:14542921G>A	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.225C>T	18.37:g.14542921G>A						POTEC_ENST00000389891.4_5'UTR	p.S75S	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	224	-			75						Silent	SNP	ENST00000358970.5	37	c.225C>T	CCDS45835.1																																																																																				0.567	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		30	136	0	0	0	1	0	30	136				
VPS13D	55187	broad.mit.edu	37	1	12438636	12438636	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr1:12438636C>G	ENST00000358136.3	+	56	11202	c.11072C>G	c.(11071-11073)aCt>aGt	p.T3691S	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.T3666S	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCTGCAGTGACTGACAACAGG	0.453																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(11071-11073)aCt>aGt		vacuolar protein sorting 13 homolog D (S. cerevisiae)							60.0	62.0	61.0					1																	12438636		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12438636C>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.11072C>G	1.37:g.12438636C>G	ENSP00000350854:p.Thr3691Ser					VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.T3666S	p.T3691S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	56	11202	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3690						Missense_Mutation	SNP	ENST00000358136.3	37	c.11072C>G	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.31|11.31	1.599666|1.599666	0.28534|0.28534	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.52057	.|0.68;0.69	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.144530	.|0.64402	.|D	.|0.000013	T|T	0.43942|0.43942	0.1270|0.1270	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|B;B	.|0.19331	.|0.035;0.02	.|B;B	.|0.23574	.|0.047;0.021	T|T	0.34104|0.34104	-0.9842|-0.9842	5|10	.|0.11485	.|T	.|0.65	.|.	19.3367|19.3367	0.94322|0.94322	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|3666;3690	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	V|S	2513|3666;3691	.|ENSP00000348666:T3666S;ENSP00000350854:T3691S	.|ENSP00000348666:T3666S	L|T	+|+	1|2	2|0	VPS13D|VPS13D	12361223|12361223	1.000000|1.000000	0.71417|0.71417	0.697000|0.697000	0.30258|0.30258	0.978000|0.978000	0.69477|0.69477	4.655000|4.655000	0.61476|0.61476	2.671000|2.671000	0.90904|0.90904	0.644000|0.644000	0.83932|0.83932	CTG|ACT		0.453	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		6	53	0	0	0	1	0	6	53				
CCDC158	339965	broad.mit.edu	37	4	77290583	77290583	+	Missense_Mutation	SNP	C	C	T	rs374158846		TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr4:77290583C>T	ENST00000388914.3	-	10	1495	c.1343G>A	c.(1342-1344)cGg>cAg	p.R448Q		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	448										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						ACTGACCTGCCGCTCCATCTG	0.512																																						ENST00000388914.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(1342-1344)cGg>cAg		coiled-coil domain containing 158		C	GLN/ARG	1,4023		0,1,2011	44.0	47.0	46.0		1343	5.6	1.0	4		46	0,8318		0,0,4159	no	missense	CCDC158	NM_001042784.1	43	0,1,6170	TT,TC,CC		0.0,0.0249,0.0081	probably-damaging	448/1114	77290583	1,12341	2012	4159	6171	SO:0001583	missense	339965							g.chr4:77290583C>T	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.1343G>A	4.37:g.77290583C>T	ENSP00000373566:p.Arg448Gln						p.R448Q	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			10	1495	-			448					Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	c.1343G>A	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762144	0.69763	2.49E-4	0.0	ENSG00000163749	ENST00000388914	D	0.81499	-1.5	5.63	5.63	0.86233	.	0.000000	0.51477	D	0.000085	T	0.68787	0.3039	N	0.19112	0.55	0.80722	D	1	B	0.25809	0.135	B	0.14023	0.01	T	0.64076	-0.6492	10	0.25751	T	0.34	.	17.4888	0.87696	0.0:1.0:0.0:0.0	.	448	Q5M9N0	CD158_HUMAN	Q	448	ENSP00000373566:R448Q	ENSP00000373566:R448Q	R	-	2	0	CCDC158	77509607	0.756000	0.28383	1.000000	0.80357	0.972000	0.66771	1.324000	0.33712	2.657000	0.90304	0.555000	0.69702	CGG		0.512	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		4	37	0	0	0	1	0	4	37				
MPG	4350	broad.mit.edu	37	16	133122	133122	+	Silent	SNP	G	G	T			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr16:133122G>T	ENST00000219431.4	+	4	618	c.387G>T	c.(385-387)ggG>ggT	p.G129G	MPG_ENST00000397817.1_Silent_p.G112G|NPRL3_ENST00000405960.3_5'Flank	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	129					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)	alkylbase DNA N-glycosylase activity (GO:0003905)|damaged DNA binding (GO:0003684)|DNA-3-methyladenine glycosylase activity (GO:0008725)|DNA-3-methylguanine glycosylase activity (GO:0052822)|DNA-7-methyladenine glycosylase activity (GO:0052821)|DNA-7-methylguanine glycosylase activity (GO:0043916)			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CATACCTGGGGCCAGAGGATG	0.622								Base excision repair (BER), DNA glycosylases																														ENST00000219431.4																			0				endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(385-387)ggG>ggT	Base excision repair (BER), DNA glycosylases	N-methylpurine-DNA glycosylase							112.0	121.0	118.0					16																	133122		2203	4300	6503	SO:0001819	synonymous_variant	4350				depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding	g.chr16:133122G>T		CCDS32345.1, CCDS32346.1, CCDS42087.1	16p13.3	2008-07-29			ENSG00000103152	ENSG00000103152	3.2.2.21		7211	protein-coding gene	gene with protein product	"""alkyladenine DNA glycosylase"""	156565				1874728	Standard	NM_002434		Approved	MDG	uc002cfo.4	P29372	OTTHUMG00000047887	ENST00000219431.4:c.387G>T	16.37:g.133122G>T						MPG_ENST00000397817.1_Silent_p.G112G	p.G129G	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN			4	618	+		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)	129					G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Silent	SNP	ENST00000219431.4	37	c.387G>T	CCDS32346.1																																																																																				0.622	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109121.4			65	119	1	0	1.33661e-31	1	1.40696e-31	65	119				
SF3B1	23451	broad.mit.edu	37	2	198267707	198267707	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr2:198267707A>T	ENST00000335508.6	-	13	1863	c.1772T>A	c.(1771-1773)gTg>gAg	p.V591E	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	591					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCGGCCTTCCACTCTAGCATA	0.328			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		0				NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1771-1773)gTg>gAg		splicing factor 3b, subunit 1, 155kDa							67.0	64.0	65.0					2																	198267707		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267707A>T	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1772T>A	2.37:g.198267707A>T	ENSP00000335321:p.Val591Glu						p.V591E	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		13	1863	-			591					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1772T>A	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.921456	0.92249	.	.	ENSG00000115524	ENST00000335508	.	.	.	5.82	5.82	0.92795	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83538	0.5276	M	0.89840	3.065	0.80722	D	1	D	0.57899	0.981	P	0.61070	0.883	D	0.86918	0.2065	9	0.66056	D	0.02	.	16.1839	0.81934	1.0:0.0:0.0:0.0	.	591	O75533	SF3B1_HUMAN	E	591	.	ENSP00000335321:V591E	V	-	2	0	SF3B1	197975952	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.227000	0.95236	2.222000	0.72286	0.533000	0.62120	GTG		0.328	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			19	51	0	0	0	1	0	19	51				
CPO	130749	broad.mit.edu	37	2	207823121	207823121	+	Missense_Mutation	SNP	G	G	A	rs368297452		TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr2:207823121G>A	ENST00000272852.3	+	4	410	c.364G>A	c.(364-366)Gtc>Atc	p.V122I		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	122						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CCAATGGTTCGTCAAAGAAGT	0.428																																						ENST00000272852.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14						c.(364-366)Gtc>Atc		carboxypeptidase O							162.0	149.0	153.0					2																	207823121		2203	4300	6503	SO:0001583	missense	130749				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr2:207823121G>A		CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"""metallocarboxypeptidase O"", ""metallocarboxypeptidase C"""	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.364G>A	2.37:g.207823121G>A	ENSP00000272852:p.Val122Ile						p.V122I	NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)	4	410	+			122					Q2M277|Q7RTW7	Missense_Mutation	SNP	ENST00000272852.3	37	c.364G>A	CCDS2372.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547439	0.65311	.	.	ENSG00000144410	ENST00000272852	T	0.09073	3.02	5.01	3.18	0.36537	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.12135	0.0295	N	0.20881	0.62	0.33501	D	0.589884	D	0.76494	0.999	P	0.60682	0.878	T	0.14699	-1.0463	10	0.45353	T	0.12	.	9.6055	0.39630	0.0:0.1539:0.6864:0.1597	.	122	Q8IVL8	CBPO_HUMAN	I	122	ENSP00000272852:V122I	ENSP00000272852:V122I	V	+	1	0	CPO	207531366	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.880000	0.63107	0.679000	0.31345	0.561000	0.74099	GTC		0.428	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077		21	100	0	0	0	1	0	21	100				
CHRNB3	1142	broad.mit.edu	37	8	42586901	42586901	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr8:42586901A>T	ENST00000289957.2	+	5	579	c.451A>T	c.(451-453)Agc>Tgc	p.S151C		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	151					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	CAGCTACAAAAGCTCCTGCAC	0.532																																						ENST00000289957.2																			0				endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(451-453)Agc>Tgc		cholinergic receptor, nicotinic, beta 3 (neuronal)							64.0	52.0	56.0					8																	42586901		2203	4300	6503	SO:0001583	missense	1142				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr8:42586901A>T	U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.451A>T	8.37:g.42586901A>T	ENSP00000289957:p.Ser151Cys						p.S151C	NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	579	+	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	151					Q15827	Missense_Mutation	SNP	ENST00000289957.2	37	c.451A>T	CCDS6134.1	.	.	.	.	.	.	.	.	.	.	a	19.98	3.927845	0.73327	.	.	ENSG00000147432	ENST00000289957	T	0.81415	-1.49	5.65	5.65	0.86999	Neurotransmitter-gated ion-channel ligand-binding (3);	0.084487	0.85682	D	0.000000	D	0.93022	0.7779	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95115	0.8241	10	0.87932	D	0	.	15.9232	0.79590	1.0:0.0:0.0:0.0	.	151	Q05901	ACHB3_HUMAN	C	151	ENSP00000289957:S151C	ENSP00000289957:S151C	S	+	1	0	CHRNB3	42706058	1.000000	0.71417	0.756000	0.31282	0.916000	0.54674	7.059000	0.76684	2.159000	0.67721	0.529000	0.55759	AGC		0.532	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1			17	24	0	0	0	1	0	17	24				
CC2D1A	54862	broad.mit.edu	37	19	14024100	14024100	+	Silent	SNP	C	C	T	rs373022042		TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr19:14024100C>T	ENST00000318003.7	+	5	739	c.498C>T	c.(496-498)taC>taT	p.Y166Y	CC2D1A_ENST00000589606.1_Silent_p.Y166Y	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	166					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TGCGGCGCTACGATCGGGGGC	0.607																																						ENST00000318003.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27						c.(496-498)taC>taT		coiled-coil and C2 domain containing 1A		C		0,3966		0,0,1983	26.0	31.0	30.0		498	-4.7	1.0	19		30	2,8308		0,2,4153	no	coding-synonymous	CC2D1A	NM_017721.4		0,2,6136	TT,TC,CC		0.0241,0.0,0.0163		166/952	14024100	2,12274	1983	4155	6138	SO:0001819	synonymous_variant	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14024100C>T	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.498C>T	19.37:g.14024100C>T						CC2D1A_ENST00000589606.1_Silent_p.Y166Y	p.Y166Y	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		5	739	+			166					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Silent	SNP	ENST00000318003.7	37	c.498C>T	CCDS42512.1																																																																																				0.607	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		10	29	0	0	0	1	0	10	29				
URB2	9816	broad.mit.edu	37	1	229794937	229794937	+	Missense_Mutation	SNP	C	C	T	rs114573548		TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr1:229794937C>T	ENST00000258243.2	+	10	4604	c.4468C>T	c.(4468-4470)Cgg>Tgg	p.R1490W		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1490						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CCAGTTCCTGCGGGCCTCGCT	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		16337	0.001		0.0	False		,,,				2504	0.0					ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(4468-4470)Cgg>Tgg		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							128.0	135.0	133.0					1																	229794937		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229794937C>T	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.4468C>T	1.37:g.229794937C>T	ENSP00000258243:p.Arg1490Trp						p.R1490W	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			10	4604	+			1490					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.4468C>T	CCDS31052.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.69	3.874838	0.72180	.	.	ENSG00000135763	ENST00000258243	T	0.44881	0.91	5.57	3.51	0.40186	Nucleolar 27S pre-rRNA processing, Urb2/Npa2, C-terminal (1);	0.343100	0.30752	N	0.008950	T	0.58949	0.2158	M	0.63428	1.95	0.31695	N	0.641372	D	0.89917	1.0	D	0.76071	0.987	T	0.65331	-0.6194	9	.	.	.	-36.3129	12.5873	0.56424	0.4979:0.5021:0.0:0.0	.	1490	Q14146	URB2_HUMAN	W	1490	ENSP00000258243:R1490W	.	R	+	1	2	URB2	227861560	0.997000	0.39634	0.957000	0.39632	0.827000	0.46813	3.562000	0.53777	0.644000	0.30656	0.650000	0.86243	CGG		0.493	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		4	203	0	0	0	1	0	4	203				
LINC00969	440993	broad.mit.edu	37	3	195395402	195395402	+	lincRNA	SNP	C	C	A	rs199554501	byFrequency	TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr3:195395402C>A	ENST00000445430.1	+	0	809									long intergenic non-protein coding RNA 969																		TACGGGCGCACCTACTTGAGC	0.597																																						ENST00000445430.1																			0																																																			0							g.chr3:195395402C>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195395402C>A														0	809	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.597	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			6	64	1	0	0.00307968	1	0.00307968	6	64				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			0							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		3	39	0	0	0	1	0	3	39				
POLA2	23649	broad.mit.edu	37	11	65063367	65063367	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr11:65063367T>C	ENST00000265465.3	+	17	2084	c.1553T>C	c.(1552-1554)aTg>aCg	p.M518T	POLA2_ENST00000541089.1_Missense_Mutation_p.M310T|POLA2_ENST00000534785.1_Intron	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	518					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CAAGAAGACATGGCCATTGAC	0.547																																						ENST00000265465.3																			0				endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11						c.(1552-1554)aTg>aCg		polymerase (DNA directed), alpha 2, accessory subunit	Dacarbazine(DB00851)						156.0	144.0	148.0					11																	65063367		2201	4297	6498	SO:0001583	missense	23649				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding	g.chr11:65063367T>C	BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"""DNA polymerases"""	30073	protein-coding gene	gene with protein product	"""DNA polymerase alpha subunit B"", ""DNA polymerase alpha 70 kDa subunit"""		"""polymerase (DNA directed), alpha 2 (70kD subunit)"""			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.1553T>C	11.37:g.65063367T>C	ENSP00000265465:p.Met518Thr					POLA2_ENST00000534785.1_Intron|POLA2_ENST00000541089.1_Missense_Mutation_p.M310T	p.M518T	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN			17	2084	+			518					B4DNB4|Q9BPV3	Missense_Mutation	SNP	ENST00000265465.3	37	c.1553T>C	CCDS8098.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.15|12.15	1.852333|1.852333	0.32699|0.32699	.|.	.|.	ENSG00000014138|ENSG00000014138	ENST00000265465;ENST00000541089|ENST00000525924	T;T|.	0.28666|.	1.6;1.6|.	5.2|5.2	4.06|4.06	0.47325|0.47325	DNA polymerase alpha/epsilon, subunit B (1);|.	0.252596|.	0.47093|.	N|.	0.000244|.	T|T	0.31888|0.31888	0.0811|0.0811	N|N	0.08118|0.08118	0|0	0.44852|0.44852	D|D	0.99786|0.99786	B;B|.	0.06786|.	0.001;0.0|.	B;B|.	0.06405|.	0.002;0.002|.	T|T	0.06661|0.06661	-1.0814|-1.0814	10|5	0.27082|.	T|.	0.32|.	-19.8456|-19.8456	8.0627|8.0627	0.30642|0.30642	0.0:0.1041:0.0:0.8959|0.0:0.1041:0.0:0.8959	.|.	310;518|.	B4DNB4;Q14181|.	.;DPOA2_HUMAN|.	T|R	518;310|188	ENSP00000265465:M518T;ENSP00000443222:M310T|.	ENSP00000265465:M518T|.	M|W	+|+	2|1	0|0	POLA2|POLA2	64819943|64819943	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.836000|0.836000	0.47400|0.47400	4.733000|4.733000	0.62036|0.62036	0.812000|0.812000	0.34326|0.34326	0.533000|0.533000	0.62120|0.62120	ATG|TGG		0.547	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387223.1	NM_002689		32	80	0	0	0	1	0	32	80				
DSEL	92126	broad.mit.edu	37	18	65178396	65178396	+	Silent	SNP	A	A	C			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr18:65178396A>C	ENST00000310045.7	-	2	4953	c.3480T>G	c.(3478-3480)tcT>tcG	p.S1160S	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1150					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AACTAGCAGGAGACAAAGGAA	0.378																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(3478-3480)tcT>tcG		dermatan sulfate epimerase-like							70.0	69.0	69.0					18																	65178396		2203	4300	6503	SO:0001819	synonymous_variant	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65178396A>C	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.3480T>G	18.37:g.65178396A>C						CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	p.S1160S	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	4953	-		Esophageal squamous(42;0.129)	1150					Q17RH1|Q6P5Z3	Silent	SNP	ENST00000310045.7	37	c.3480T>G	CCDS11995.1																																																																																				0.378	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		17	52	0	0	0	1	0	17	52				
ZNF99	7652	broad.mit.edu	37	19	22939575	22939575	+	IGR	SNP	C	C	T			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr19:22939575C>T	ENST00000596209.1	-	0	2686				CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.G866S	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAAGCTTTGCCACATTCTTCA	0.348																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2596-2598)Ggc>Agc		zinc finger protein 99							39.0	49.0	46.0					19																	22939575		1964	4229	6193	SO:0001628	intergenic_variant	7652							g.chr19:22939575C>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939575C>T							p.G866S							7	2595	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2596G>A	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	14.31	2.496010	0.44352	.	.	ENSG00000213973	ENST00000397104	T	0.19105	2.17	1.32	-2.12	0.07165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37461	0.1004	.	.	.	0.28383	N	0.919463	D	0.89917	1.0	D	0.87578	0.998	T	0.25502	-1.0130	8	0.66056	D	0.02	.	6.6379	0.22893	0.0:0.7324:0.0:0.2676	.	866	A8MXY4	ZNF99_HUMAN	S	866	ENSP00000380293:G866S	ENSP00000380293:G866S	G	-	1	0	ZNF99	22731415	0.901000	0.30685	0.000000	0.03702	0.058000	0.15608	2.547000	0.45786	-0.710000	0.05001	0.164000	0.16699	GGC		0.348	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		24	44	0	0	0	1	0	24	44				
SPAM1	6677	broad.mit.edu	37	7	123595133	123595133	+	Missense_Mutation	SNP	G	G	A	rs267601263	byFrequency	TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr7:123595133G>A	ENST00000439500.1	+	5	1650	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	SPAM1_ENST00000340011.5_Missense_Mutation_p.R346Q|SPAM1_ENST00000460182.1_Missense_Mutation_p.R346Q|SPAM1_ENST00000402183.2_Missense_Mutation_p.R346Q|SPAM1_ENST00000223028.7_Missense_Mutation_p.R346Q	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	346					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.R346Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGTATAATGCGAAGTATGGTA	0.338													G|||	3	0.000599042	0.0	0.0	5008	,	,		17337	0.0		0.0	False		,,,				2504	0.0031					ENST00000340011.5																			2	Substitution - Missense(2)	p.R346Q(2)	kidney(2)	breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1036-1038)cGa>cAa		sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	Hyaluronidase(DB00070)						180.0	178.0	179.0					7																	123595133		2203	4300	6503	SO:0001583	missense	0				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123595133G>A	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.1037G>A	7.37:g.123595133G>A	ENSP00000402123:p.Arg346Gln					SPAM1_ENST00000402183.2_Missense_Mutation_p.R346Q|SPAM1_ENST00000439500.1_Missense_Mutation_p.R346Q|SPAM1_ENST00000223028.7_Missense_Mutation_p.R346Q|SPAM1_ENST00000460182.1_Missense_Mutation_p.R346Q	p.R346Q	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN			4	1394	+			346					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.1037G>A	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	G	3.242	-0.155130	0.06544	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	6.02	-5.2	0.02823	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	1.225540	0.05401	N	0.540781	T	0.06917	0.0176	N	0.05574	-0.02	0.09310	N	1	B;B	0.25441	0.126;0.126	B;B	0.19148	0.024;0.024	T	0.30679	-0.9970	10	0.02654	T	1	0.1267	4.9752	0.14136	0.5751:0.0883:0.2412:0.0954	.	346;346	Q8TC30;P38567	.;HYALP_HUMAN	Q	346	ENSP00000386028:R346Q;ENSP00000417934:R346Q;ENSP00000345849:R346Q;ENSP00000402123:R346Q;ENSP00000223028:R346Q	ENSP00000223028:R346Q	R	+	2	0	SPAM1	123382369	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.544000	0.02192	-1.001000	0.03434	-0.145000	0.13849	CGA		0.338	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			44	79	0	0	0	1	0	44	79				
WDR49	151790	broad.mit.edu	37	3	167322149	167322149	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr3:167322149A>G	ENST00000308378.3	-	2	348	c.43T>C	c.(43-45)Tcc>Ccc	p.S15P	WDR49_ENST00000479765.1_Missense_Mutation_p.S356P|WDR49_ENST00000453925.2_Missense_Mutation_p.S68P	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	15										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ATGTTGAAGGATGTCATATTA	0.378																																						ENST00000308378.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(43-45)Tcc>Ccc		WD repeat domain 49							177.0	172.0	174.0					3																	167322149		2203	4300	6503	SO:0001583	missense	151790							g.chr3:167322149A>G	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.43T>C	3.37:g.167322149A>G	ENSP00000311343:p.Ser15Pro					WDR49_ENST00000453925.2_Missense_Mutation_p.S68P|WDR49_ENST00000479765.1_Missense_Mutation_p.S356P	p.S15P	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN			2	348	-			15					Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	c.43T>C	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	A	13.11	2.138942	0.37728	.	.	ENSG00000174776	ENST00000308378;ENST00000479765;ENST00000453925	T;T;T	0.55760	0.5;1.57;2.24	5.36	2.94	0.34122	WD40-repeat-containing domain (1);	0.200654	0.36628	N	0.002482	T	0.62563	0.2438	M	0.74881	2.28	0.30771	N	0.742992	D;D;D	0.76494	0.998;0.998;0.999	P;D;D	0.68353	0.878;0.915;0.957	T	0.60311	-0.7288	10	0.28530	T	0.3	.	3.3005	0.06982	0.644:0.1423:0.077:0.1367	.	68;356;15	E7EQK3;E9PDB0;Q8IV35	.;.;WDR49_HUMAN	P	15;356;68	ENSP00000311343:S15P;ENSP00000419749:S356P;ENSP00000410863:S68P	ENSP00000311343:S15P	S	-	1	0	WDR49	168804843	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	1.622000	0.36997	0.335000	0.23614	-1.119000	0.02030	TCC		0.378	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824		20	37	0	0	0	1	0	20	37				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			27	65	0	0	0	1	0	27	65				
TBC1D2	55357	broad.mit.edu	37	9	101017533	101017533	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr9:101017533A>C	ENST00000375064.1	-	1	329	c.291T>G	c.(289-291)agT>agG	p.S97R	TBC1D2_ENST00000342112.5_5'UTR|TBC1D2_ENST00000375066.5_Missense_Mutation_p.S97R	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	97	Interaction with CADH1.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CAAACACTGCACTGGAGAGGT	0.522																																						ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(289-291)agT>agG		TBC1 domain family, member 2							71.0	71.0	71.0					9																	101017533		2203	4300	6503	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:101017533A>C	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.291T>G	9.37:g.101017533A>C	ENSP00000364205:p.Ser97Arg					TBC1D2_ENST00000342112.5_5'UTR|TBC1D2_ENST00000375064.1_Missense_Mutation_p.S97R	p.S97R	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	1	382	-		Myeloproliferative disorder(762;0.0255)	97			Interaction with CADH1.|PH.		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37	c.291T>G		.	.	.	.	.	.	.	.	.	.	A	11.80	1.747367	0.30955	.	.	ENSG00000095383	ENST00000375064;ENST00000375066	T;T	0.76316	-1.01;-1.01	5.53	-2.77	0.05877	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.779100	0.12419	N	0.470573	T	0.58090	0.2098	N	0.21508	0.67	0.45777	D	0.998663	B;B	0.18610	0.017;0.029	B;B	0.19148	0.01;0.024	T	0.25882	-1.0119	10	0.30078	T	0.28	.	6.5404	0.22377	0.4621:0.137:0.401:0.0	.	97;97	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	R	97	ENSP00000364205:S97R;ENSP00000364207:S97R	ENSP00000364205:S97R	S	-	3	2	TBC1D2	100057354	0.000000	0.05858	0.013000	0.15412	0.578000	0.36192	-0.431000	0.06965	-0.441000	0.07201	0.379000	0.24179	AGT		0.522	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		25	57	0	0	0	1	0	25	57				
CALCOCO2	10241	broad.mit.edu	37	17	46919111	46919111	+	Silent	SNP	G	G	A			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr17:46919111G>A	ENST00000258947.3	+	2	143	c.42G>A	c.(40-42)ttG>ttA	p.L14L	CALCOCO2_ENST00000448105.2_Silent_p.L14L|CALCOCO2_ENST00000509507.1_Silent_p.L14L|CALCOCO2_ENST00000508679.1_Intron|CALCOCO2_ENST00000416445.2_Silent_p.L14L	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	14					response to interferon-gamma (GO:0034341)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						CAGCTGTCTTGCTGGATCACT	0.468																																						ENST00000258947.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						c.(40-42)ttG>ttA		calcium binding and coiled-coil domain 2							132.0	111.0	118.0					17																	46919111		2203	4300	6503	SO:0001819	synonymous_variant	10241				response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity	g.chr17:46919111G>A	BC004130	CCDS11538.1, CCDS58558.1, CCDS58559.1, CCDS58560.1, CCDS58561.1	17q21.32	2006-02-09				ENSG00000136436			29912	protein-coding gene	gene with protein product		604587				7540613	Standard	NM_001261390		Approved	MGC17318, NDP52	uc010wlr.3	Q13137		ENST00000258947.3:c.42G>A	17.37:g.46919111G>A						CALCOCO2_ENST00000509507.1_Silent_p.L14L|CALCOCO2_ENST00000508679.1_Intron|CALCOCO2_ENST00000416445.2_Silent_p.L14L|CALCOCO2_ENST00000448105.2_Silent_p.L14L	p.L14L	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN			2	143	+			14					B2RBT0|B4DDC4|B4DDT4|B4DP36|B4E0C0|E7ENK0|E7ETP5|E9PBE5|Q53FQ5|Q53HB5|Q6IBN9|Q9BTF7	Silent	SNP	ENST00000258947.3	37	c.42G>A	CCDS11538.1																																																																																				0.468	CALCOCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360866.1	NM_005831		12	34	0	0	0	1	0	12	34				
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr3:126707544T>G	ENST00000393409.2	+	1	108	c.108T>G	c.(106-108)ggT>ggG	p.G36G	PLXNA1_ENST00000251772.4_Silent_p.G13G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.G13G(4)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.682																																						ENST00000393409.2																			4	Substitution - coding silent(4)	p.G13G(4)	lung(2)|kidney(2)	breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(106-108)ggT>ggG		plexin A1							26.0	27.0	27.0					3																	126707544		2203	4300	6503	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126707544T>G	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.108T>G	3.37:g.126707544T>G						PLXNA1_ENST00000251772.4_Silent_p.G13G	p.G36G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	108	+			36			Sema.			Silent	SNP	ENST00000393409.2	37	c.108T>G	CCDS33847.2																																																																																				0.682	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		12	19	0	0	0	1	0	12	19				
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	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	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTGTGCGCCGGTCTCTCCCA	0.557		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"""		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(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	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83.0	71.0	75.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	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.chr17:7577094G>A	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.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	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_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R282W	p.R282W	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)	8	976	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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.844C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		24	13	0	0	0	1	0	24	13				
SLC12A3	6559	broad.mit.edu	37	16	56921912	56921912	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr16:56921912G>A	ENST00000563236.1	+	18	2279	c.2254G>A	c.(2254-2256)Gcc>Acc	p.A752T	SLC12A3_ENST00000262502.5_Missense_Mutation_p.A751T|SLC12A3_ENST00000566786.1_Missense_Mutation_p.A751T|SLC12A3_ENST00000438926.2_Missense_Mutation_p.A752T			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	752					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GGCTCACCCGGCCACAGTGGA	0.577																																						ENST00000438926.2																			0				breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(2254-2256)Gcc>Acc		solute carrier family 12 (sodium/chloride transporter), member 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						49.0	48.0	48.0					16																	56921912		2198	4300	6498	SO:0001583	missense	0				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56921912G>A		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.2254G>A	16.37:g.56921912G>A	ENSP00000456149:p.Ala752Thr					SLC12A3_ENST00000566786.1_Missense_Mutation_p.A751T|SLC12A3_ENST00000563236.1_Missense_Mutation_p.A752T|SLC12A3_ENST00000262502.5_Missense_Mutation_p.A751T	p.A752T	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN			18	2283	+			752					A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	c.2254G>A	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	G	4.190	0.033971	0.08101	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	4.7	3.75	0.43078	.	0.957292	0.08719	N	0.903718	T	0.18045	0.0433	N	0.10972	0.075	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.003	T	0.31024	-0.9958	9	0.12766	T	0.61	.	5.6852	0.17799	0.1807:0.2171:0.6022:0.0	.	751;752;752	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	T	751;752	.	ENSP00000262502:A752T	A	+	1	0	SLC12A3	55479413	0.000000	0.05858	0.675000	0.29917	0.657000	0.38888	0.127000	0.15790	1.122000	0.41944	0.563000	0.77884	GCC		0.577	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			3	48	0	0	0	1	0	3	48				
PSMB3	5691	broad.mit.edu	37	17	36912146	36912146	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr17:36912146C>T	ENST00000225426.4	+	3	290	c.199C>T	c.(199-201)Ctc>Ttc	p.L67F	RNU6-866P_ENST00000516469.1_RNA	NM_002795.2	NP_002786.2	P49720	PSB3_HUMAN	proteasome (prosome, macropain) subunit, beta type, 3	67					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|large_intestine(1)|lung(1)	4						TGCCCAGCGCCTCAAGTTCCG	0.473																																						ENST00000225426.4																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(199-201)Ctc>Ttc		proteasome (prosome, macropain) subunit, beta type, 3							103.0	90.0	95.0					17																	36912146		2203	4300	6503	SO:0001583	missense	5691				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity	g.chr17:36912146C>T	BC013008	CCDS11328.1	17q12	2014-05-06			ENSG00000108294	ENSG00000277791		"""Proteasome (prosome, macropain) subunits"""	9540	protein-coding gene	gene with protein product		602176				7918633	Standard	NM_002795		Approved	HC10-II, MGC4147	uc002hqr.3	P49720	OTTHUMG00000188503	ENST00000225426.4:c.199C>T	17.37:g.36912146C>T	ENSP00000225426:p.Leu67Phe						p.L67F	NM_002795.2	NP_002786.2	P49720	PSB3_HUMAN			3	290	+			67					P31147|Q0P6J7|Q96E27	Missense_Mutation	SNP	ENST00000225426.4	37	c.199C>T	CCDS11328.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.147119	0.37923	.	.	ENSG00000108294	ENST00000225426	T	0.25749	1.78	5.04	5.04	0.67666	.	0.067925	0.64402	D	0.000014	T	0.40094	0.1103	L	0.52206	1.635	0.58432	D	0.999999	D	0.76494	0.999	D	0.70935	0.971	T	0.03784	-1.1004	10	0.27785	T	0.31	.	10.6699	0.45751	0.0:0.9129:0.0:0.0871	.	67	P49720	PSB3_HUMAN	F	67	ENSP00000225426:L67F	ENSP00000225426:L67F	L	+	1	0	PSMB3	34165672	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.509000	0.45459	2.614000	0.88457	0.655000	0.94253	CTC		0.473	PSMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256810.2	NM_002795		5	40	0	0	0	1	0	5	40				
LDHC	3948	broad.mit.edu	37	11	18456322	18456322	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr11:18456322G>A	ENST00000541669.1	+	5	565	c.454G>A	c.(454-456)Ggc>Agc	p.G152S	LDHC_ENST00000537486.1_Intron|LDHC_ENST00000546146.1_Missense_Mutation_p.G94S|LDHC_ENST00000544105.1_Missense_Mutation_p.G152S|LDHC_ENST00000535809.1_Missense_Mutation_p.G152S|LDHC_ENST00000536880.1_Missense_Mutation_p.G138S|LDHC_ENST00000280704.4_Missense_Mutation_p.G152S			P07864	LDHC_HUMAN	lactate dehydrogenase C	152					ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAAGATAAGTGGCTTACCTGT	0.353																																						ENST00000541669.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(454-456)Ggc>Agc		lactate dehydrogenase C	NADH(DB00157)						156.0	157.0	157.0					11																	18456322		2199	4293	6492	SO:0001583	missense	3948				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18456322G>A	AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"""cancer/testis antigen 32"""	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	ENST00000541669.1:c.454G>A	11.37:g.18456322G>A	ENSP00000437783:p.Gly152Ser					LDHC_ENST00000537486.1_Intron|LDHC_ENST00000536880.1_Missense_Mutation_p.G138S|LDHC_ENST00000546146.1_Missense_Mutation_p.G94S|LDHC_ENST00000535809.1_Missense_Mutation_p.G152S|LDHC_ENST00000544105.1_Missense_Mutation_p.G152S|LDHC_ENST00000280704.4_Missense_Mutation_p.G152S	p.G152S			P07864	LDHC_HUMAN			5	565	+			152					D3DQY4|Q6GSG8|Q7Z7J4	Missense_Mutation	SNP	ENST00000541669.1	37	c.454G>A	CCDS7840.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573022	0.86542	.	.	ENSG00000166796	ENST00000541669;ENST00000280704;ENST00000546146;ENST00000536880;ENST00000544105;ENST00000535809	D;D;D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36;-3.36;-3.36	4.67	4.67	0.58626	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.97486	0.9177	M	0.92738	3.34	0.80722	D	1	D;P;P	0.89917	1.0;0.849;0.727	D;P;P	0.91635	0.999;0.713;0.714	D	0.98440	1.0586	10	0.72032	D	0.01	-10.5451	17.7621	0.88467	0.0:0.0:1.0:0.0	.	152;152;152	F5H155;G3XAP5;P07864	.;.;LDHC_HUMAN	S	152;152;94;138;152;152	ENSP00000437783:G152S;ENSP00000280704:G152S;ENSP00000443414:G94S;ENSP00000439555:G138S;ENSP00000439060:G152S;ENSP00000443997:G152S	ENSP00000280704:G152S	G	+	1	0	LDHC	18412898	1.000000	0.71417	0.995000	0.50966	0.647000	0.38526	7.691000	0.84191	2.446000	0.82766	0.655000	0.94253	GGC		0.353	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395892.1	NM_017448		34	115	0	0	0	1	0	34	115				
ZNF485	220992	broad.mit.edu	37	10	44112009	44112009	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr10:44112009T>C	ENST00000361807.3	+	5	712	c.518T>C	c.(517-519)cTt>cCt	p.L173P	ZNF485_ENST00000374437.2_Missense_Mutation_p.L82P|ZNF485_ENST00000374435.3_Missense_Mutation_p.L173P	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	173					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						AGTTCATCCCTTTTAAATCAC	0.388																																						ENST00000361807.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.(517-519)cTt>cCt		zinc finger protein 485							113.0	109.0	111.0					10																	44112009		2203	4300	6503	SO:0001583	missense	220992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:44112009T>C	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"""Zinc fingers, C2H2-type"", ""-"""	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.518T>C	10.37:g.44112009T>C	ENSP00000354694:p.Leu173Pro					ZNF485_ENST00000374435.3_Missense_Mutation_p.L173P|ZNF485_ENST00000374437.2_Missense_Mutation_p.L82P	p.L173P	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN			5	712	+			173					B4DSE6|Q96CL0	Missense_Mutation	SNP	ENST00000361807.3	37	c.518T>C	CCDS7205.2	.	.	.	.	.	.	.	.	.	.	T	12.37	1.917605	0.33815	.	.	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.14266	2.52;2.52;2.52	2.52	2.52	0.30459	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44159	0.1280	H	0.94423	3.535	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	T	0.53129	-0.8482	9	0.87932	D	0	.	8.8715	0.35318	0.0:0.0:0.0:1.0	.	173	Q8NCK3	ZN485_HUMAN	P	173;82;173	ENSP00000354694:L173P;ENSP00000363560:L82P;ENSP00000363558:L173P	ENSP00000354694:L173P	L	+	2	0	ZNF485	43432015	0.007000	0.16637	1.000000	0.80357	0.612000	0.37316	1.689000	0.37700	1.405000	0.46838	0.379000	0.24179	CTT		0.388	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2	NM_145312		3	89	0	0	0	1	0	3	89				
DZIP3	9666	broad.mit.edu	37	3	108335404	108335404	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr3:108335404A>G	ENST00000361582.3	+	5	505	c.275A>G	c.(274-276)aAc>aGc	p.N92S	DZIP3_ENST00000463306.1_Missense_Mutation_p.N92S	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	92					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GTTGCAGCTAACAGCCAGAAT	0.353																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(274-276)aAc>aGc		DAZ interacting zinc finger protein 3							172.0	168.0	169.0					3																	108335404		2203	4300	6503	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108335404A>G	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.275A>G	3.37:g.108335404A>G	ENSP00000355028:p.Asn92Ser					DZIP3_ENST00000463306.1_Missense_Mutation_p.N92S	p.N92S	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			5	505	+			92					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.275A>G	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	A	8.420	0.846103	0.16963	.	.	ENSG00000198919	ENST00000393969;ENST00000361582;ENST00000486815;ENST00000479138;ENST00000463306	T;T	0.18016	2.24;2.24	4.74	1.15	0.20763	.	0.674933	0.13569	N	0.378191	T	0.09992	0.0245	L	0.27053	0.805	0.19775	N	0.999959	B	0.02656	0.0	B	0.06405	0.002	T	0.37009	-0.9724	10	0.22109	T	0.4	-3.1714	6.0167	0.19607	0.6826:0.0:0.3174:0.0	.	92	Q86Y13	DZIP3_HUMAN	S	92;92;8;92;92	ENSP00000355028:N92S;ENSP00000419981:N92S	ENSP00000355028:N92S	N	+	2	0	DZIP3	109818094	0.711000	0.27906	0.849000	0.33467	0.996000	0.88848	0.653000	0.24902	0.052000	0.16007	0.460000	0.39030	AAC		0.353	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		30	94	0	0	0	1	0	30	94				
LINC00969	440993	broad.mit.edu	37	3	195395399	195395399	+	lincRNA	SNP	G	G	A	rs62287990	byFrequency	TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr3:195395399G>A	ENST00000445430.1	+	0	806									long intergenic non-protein coding RNA 969																		GGCTACGGGCGCACCTACTTG	0.607																																						ENST00000445430.1																			0																																																			0							g.chr3:195395399G>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195395399G>A														0	806	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.607	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			6	60	0	0	0	1	0	6	60				
KDM1B	221656	broad.mit.edu	37	6	18197327	18197327	+	Missense_Mutation	SNP	G	G	A	rs201513146		TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr6:18197327G>A	ENST00000297792.5	+	9	790	c.613G>A	c.(613-615)Gtc>Atc	p.V205I	KDM1B_ENST00000388870.2_Missense_Mutation_p.V337I|KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000397244.1_Missense_Mutation_p.V205I			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	337					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TCACATCATCGTCCGGGGTCT	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		20815	0.001		0.0	False		,,,				2504	0.0					ENST00000388870.2																			0				breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						c.(1009-1011)Gtc>Atc		lysine (K)-specific demethylase 1B							144.0	137.0	140.0					6																	18197327		2203	4300	6503	SO:0001583	missense	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18197327G>A	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.613G>A	6.37:g.18197327G>A	ENSP00000297792:p.Val205Ile					KDM1B_ENST00000297792.5_Missense_Mutation_p.V205I|KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000397244.1_Missense_Mutation_p.V205I	p.V337I			Q8NB78	KDM1B_HUMAN			11	1250	+			337			SWIRM.		A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	ENST00000297792.5	37	c.1009G>A	CCDS34343.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.27	3.587527	0.66105	.	.	ENSG00000165097	ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869	T;T;T	0.32272	1.46;1.5;1.5	6.08	6.08	0.98989	Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);SWIRM (2);	0.201788	0.41823	D	0.000818	T	0.23289	0.0563	L	0.48362	1.52	0.80722	D	1	P;P	0.51240	0.72;0.943	B;B	0.40410	0.071;0.328	T	0.05733	-1.0867	10	0.87932	D	0	-16.1434	20.6721	0.99693	0.0:0.0:1.0:0.0	.	337;205	Q8NB78;A2A2C6	KDM1B_HUMAN;.	I	337;205;205;337	ENSP00000373522:V337I;ENSP00000380419:V205I;ENSP00000297792:V205I	ENSP00000297792:V205I	V	+	1	0	KDM1B	18305306	1.000000	0.71417	0.971000	0.41717	0.898000	0.52572	9.514000	0.98013	2.894000	0.99253	0.591000	0.81541	GTC		0.413	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042		44	81	0	0	0	1	0	44	81				
BCRP7	100133163	broad.mit.edu	37	22	18846121	18846121	+	3'UTR	SNP	C	C	T	rs4302302	byFrequency	TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr22:18846121C>T	ENST00000412938.1	+	0	3479																											CACGCACTGGCGCACGATGTA	0.617																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846121C>T																												ENST00000412938.1:c.*3476C>T	22.37:g.18846121C>T														0	3479	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.617	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	25	0	0	0	1	0	3	25				
EDEM3	80267	broad.mit.edu	37	1	184692991	184692991	+	Splice_Site	SNP	C	C	T			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr1:184692991C>T	ENST00000318130.8	-	8	1014		c.e8-1		EDEM3_ENST00000367512.3_Splice_Site	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3						cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGGCATATTCCTGTAATTTaa	0.328																																						ENST00000318130.8																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.e8-1		ER degradation enhancer, mannosidase alpha-like 3							50.0	53.0	52.0					1																	184692991		2201	4293	6494	SO:0001630	splice_region_variant	80267				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr1:184692991C>T	AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.748-1G>A	1.37:g.184692991C>T						EDEM3_ENST00000367512.3_Splice_Site		NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN			8	1014	-								B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Splice_Site	SNP	ENST00000318130.8	37		CCDS1363.2	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995688	0.74703	.	.	ENSG00000116406	ENST00000318130;ENST00000367512	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1467	0.89659	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EDEM3	182959614	1.000000	0.71417	0.997000	0.53966	0.733000	0.41908	7.380000	0.79704	2.701000	0.92244	0.650000	0.86243	.		0.328	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191	Intron	21	58	0	0	0	1	0	21	58				
PCDHA6	56142	broad.mit.edu	37	5	140207760	140207760	+	Silent	SNP	C	C	T			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr5:140207760C>T	ENST00000529310.1	+	1	198	c.84C>T	c.(82-84)agC>agT	p.S28S	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Silent_p.S28S|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	28					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGGGAGCGGCCAGCTCC	0.632																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(82-84)agC>agT									71.0	81.0	77.0					5																	140207760		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140207760C>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.84C>T	5.37:g.140207760C>T						PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.S28S|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	p.S28S	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	198	+								O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.84C>T	CCDS47281.1																																																																																				0.632	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		51	75	0	0	0	1	0	51	75				
TLL2	7093	broad.mit.edu	37	10	98138802	98138802	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr10:98138802C>T	ENST00000357947.3	-	17	2467	c.2242G>A	c.(2242-2244)Gtc>Atc	p.V748I		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	748	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AAGGTGTTGACGCACTCATGC	0.552																																						ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(2242-2244)Gtc>Atc		tolloid-like 2							194.0	155.0	168.0					10																	98138802		2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98138802C>T	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.2242G>A	10.37:g.98138802C>T	ENSP00000350630:p.Val748Ile						p.V748I	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	17	2467	-		Colorectal(252;0.0846)	748			EGF-like 2; calcium-binding (Potential).		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.2242G>A	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	7.503	0.653162	0.14580	.	.	ENSG00000095587	ENST00000357947	D	0.95656	-3.77	4.78	1.95	0.26073	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.782162	0.10700	N	0.644165	D	0.86920	0.6049	N	0.10618	0.005	0.27108	N	0.962445	B	0.06786	0.001	B	0.09377	0.004	T	0.76266	-0.3022	10	0.18276	T	0.48	.	7.5715	0.27911	0.0:0.6583:0.0:0.3417	.	748	Q9Y6L7	TLL2_HUMAN	I	748	ENSP00000350630:V748I	ENSP00000350630:V748I	V	-	1	0	TLL2	98128792	0.001000	0.12720	0.996000	0.52242	0.125000	0.20455	-0.181000	0.09740	0.741000	0.32674	0.561000	0.74099	GTC		0.552	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			32	110	0	0	0	1	0	32	110				
CACNA1E	777	broad.mit.edu	37	1	181680102	181680103	+	Frame_Shift_Del	DEL	AG	AG	-	rs147596634		TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr1:181680102_181680103delAG	ENST00000367573.2	+	8	1068_1069	c.1068_1069delAG	c.(1066-1071)aaagagfs	p.E357fs	CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.E357fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.E308fs|CACNA1E_ENST00000526775.1_Frame_Shift_Del_p.E357fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.E308fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.E357fs	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	357					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATTTGCCAAAGAGAGAGAGAG	0.51																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(1066-1071)aaagfs		calcium channel, voltage-dependent, R type, alpha 1E subunit			,,	161,3503		41,79,1712					,,	5.3	1.0		dbSNP_134	61	297,7585		52,193,3696	yes	frameshift,frameshift,frameshift	CACNA1E	NM_001205294.1,NM_001205293.1,NM_000721.3	,,	93,272,5408	A1A1,A1R,RR		3.7681,4.3941,3.9667	,,	,,		458,11088				SO:0001589	frameshift_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181680102_181680103delAG	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1068_1069delAG	1.37:g.181680112_181680113delAG	ENSP00000356545:p.Glu357fs					CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.KE356fs	p.KE356fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			8	1233_1234	+			356					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Frame_Shift_Del	DEL	ENST00000367573.2	37	c.1068_1069delAG	CCDS55664.1																																																																																				0.510	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		7	75						7	75	---	---	---	---
IL12A-AS1	101928376	broad.mit.edu	37	3	159820697	159820698	+	RNA	INS	-	-	A	rs527889186|rs113756526	byFrequency	TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr3:159820697_159820698insA	ENST00000497452.1	-	0	517									IL12A antisense RNA 1																		TTGGAacagtgaaaaaaaaaag	0.277													|||unknown(HR)	612	0.122204	0.261	0.0533	5008	,	,		18975	0.0923		0.0815	False		,,,				2504	0.0562					ENST00000497452.1																			0																																																			0							g.chr3:159820697_159820698insA	AK097161		3q25.33	2013-09-02			ENSG00000244040	ENSG00000244040		"""Long non-coding RNAs"""	49094	non-coding RNA	RNA, long non-coding							Standard	NR_108088		Approved				OTTHUMG00000158951		3.37:g.159820707_159820707dupA														0	517	-									RNA	INS	ENST00000497452.1	37																																																																																						0.277	IL12A-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000352647.1			2	4						2	4	---	---	---	---
SLC51A	200931	broad.mit.edu	37	3	195955100	195955102	+	In_Frame_Del	DEL	CTG	CTG	-	rs142849558		TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr3:195955100_195955102delCTG	ENST00000296327.5	+	5	686_688	c.477_479delCTG	c.(475-480)ccctgc>ccc	p.C164del		NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	164	Poly-Cys.				bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	ACACAGGCCCctgctgctgctgc	0.665																																						ENST00000296327.5																			0											c.(475-480)ccc>cc		solute carrier family 51, alpha subunit				166,4098		0,166,1966						5.5	1.0		dbSNP_134	89	364,7890		0,364,3763	no	coding	OSTalpha	NM_152672.5		0,530,5729	A1A1,A1R,RR		4.41,3.8931,4.2339				530,11988				SO:0001651	inframe_deletion	200931							g.chr3:195955100_195955102delCTG		CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"""Solute carriers"""	29955	protein-coding gene	gene with protein product	"""organic solute transporter, alpha subunit"""	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.477_479delCTG	3.37:g.195955109_195955111delCTG	ENSP00000296327:p.Cys164del						p.PC159del	NM_152672.5	NP_689885.4					5	686_688	+								Q6ZMC7	In_Frame_Del	DEL	ENST00000296327.5	37	c.477_479delCTG	CCDS3314.1																																																																																				0.665	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672		7	136						7	136	---	---	---	---
CYP21A1P	1590	broad.mit.edu	37	6	31973481	31973483	+	IGR	DEL	CTG	CTG	-	rs372987663		TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr6:31973481_31973483delCTG	ENST00000594256.1	-	0	69				C4A-AS1_ENST00000458633.1_RNA|CYP21A1P_ENST00000342991.6_RNA																							gctcctgggcctgctgctgctgc	0.66																																						ENST00000342991.6																			0																	59,3537		5,49,1744						0.7	0.9			4	127,6723		15,97,3313	no	intergenic				20,146,5057	A1A1,A1R,RR		1.854,1.6407,1.7806				186,10260				SO:0001628	intergenic_variant	0						electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr6:31973481_31973483delCTG																													6.37:g.31973490_31973492delCTG								NR_040090.1		Q5ST44	Q5ST44_HUMAN			0	69_71	+									RNA	DEL	ENST00000594256.1	37																																																																																						0.660	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				3	3						3	3	---	---	---	---
ZNF395	55893	broad.mit.edu	37	8	28209226	28209228	+	In_Frame_Del	DEL	GCA	GCA	-	rs142343457|rs368917144	byFrequency	TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr8:28209226_28209228delGCA	ENST00000344423.5	-	7	1148_1150	c.1017_1019delTGC	c.(1015-1020)gctgcc>gcc	p.339_340AA>A	ZNF395_ENST00000523095.1_In_Frame_Del_p.339_340AA>A|ZNF395_ENST00000523202.1_In_Frame_Del_p.339_340AA>A	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGTGCCTgcggcagcagcagcag	0.606																																						ENST00000344423.5																			0				cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1015-1020)gcc>gc		zinc finger protein 395				554,80,3604		203,0,148,2,76,1690						-6.6	0.0			63	1049,5,7094		390,0,269,0,5,3410	no	codingComplex	ZNF395	NM_018660.2		593,0,417,2,81,5100	A1A1,A1A2,A1R,A2A2,A2R,RR		12.9357,14.9599,13.6283				1603,85,10698				SO:0001651	inframe_deletion	55893				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr8:28209226_28209228delGCA	AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.1017_1019delTGC	8.37:g.28209235_28209237delGCA	ENSP00000340494:p.Ala341del					ZNF395_ENST00000523202.1_In_Frame_Del_p.AA339del|ZNF395_ENST00000523095.1_In_Frame_Del_p.AA339del	p.AA339del	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)	7	1148_1150	-		Ovarian(32;2.06e-05)	339					B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	In_Frame_Del	DEL	ENST00000344423.5	37	c.1017_1019delTGC	CCDS6067.1																																																																																				0.606	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			7	122						7	122	---	---	---	---
