#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
WDR16	146845	broad.mit.edu	37	17	9503430	9503430	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr17:9503430A>C	ENST00000352665.5	+	6	752	c.683A>C	c.(682-684)gAt>gCt	p.D228A	WDR16_ENST00000396219.3_Missense_Mutation_p.D160A|WDR16_ENST00000299764.5_Missense_Mutation_p.D238A	NM_145054.4	NP_659491.4			WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						ACGACTGGAGATATTCTAAAA	0.488																																						ENST00000352665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(682-684)gAt>gCt		WD repeat domain 16							171.0	165.0	167.0					17																	9503430		2203	4300	6503	SO:0001583	missense	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9503430A>C	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"""WD repeat domain containing"""	16053	protein-coding gene	gene with protein product	"""WD40-repeat protein upregulated in HCC"""	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.683A>C	17.37:g.9503430A>C	ENSP00000339449:p.Asp228Ala					WDR16_ENST00000299764.5_Missense_Mutation_p.D238A|WDR16_ENST00000396219.3_Missense_Mutation_p.D160A	p.D228A	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN			6	752	+			228						Missense_Mutation	SNP	ENST00000352665.5	37	c.683A>C	CCDS11149.2	.	.	.	.	.	.	.	.	.	.	A	23.9	4.476172	0.84640	.	.	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;T;T	0.34859	2.59;1.34;5.06	5.77	5.77	0.91146	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67420	0.2891	M	0.90542	3.125	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.995	T	0.74456	-0.3659	10	0.66056	D	0.02	-30.974	15.3757	0.74602	1.0:0.0:0.0:0.0	.	238;160;228	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	A	228;160;238	ENSP00000339449:D228A;ENSP00000379521:D160A;ENSP00000299764:D238A	ENSP00000299764:D238A	D	+	2	0	WDR16	9444155	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.842000	0.75379	2.326000	0.78906	0.533000	0.62120	GAT		0.488	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	NM_145054		143	200	0	0	0	1	0	143	200				
PDCD11	22984	broad.mit.edu	37	10	105178345	105178345	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr10:105178345A>G	ENST00000369797.3	+	15	2154	c.2060A>G	c.(2059-2061)gAc>gGc	p.D687G		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	687	S1 motif 7. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CAGGCAGGTGACATCCTTCAC	0.582																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(2059-2061)gAc>gGc		programmed cell death 11							122.0	86.0	98.0					10																	105178345		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105178345A>G	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.2060A>G	10.37:g.105178345A>G	ENSP00000358812:p.Asp687Gly						p.D687G	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	15	2154	+		Colorectal(252;0.0747)|Breast(234;0.128)	687			S1 motif 7.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.2060A>G	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	A	17.39	3.378168	0.61735	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.11495	2.77	5.93	5.93	0.95920	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.29749	0.0743	L	0.61218	1.895	0.80722	D	1	D	0.67145	0.996	D	0.65233	0.933	T	0.00561	-1.1670	10	0.51188	T	0.08	-30.4073	16.3829	0.83481	1.0:0.0:0.0:0.0	.	687	Q14690	RRP5_HUMAN	G	687	ENSP00000358812:D687G	ENSP00000358812:D687G	D	+	2	0	PDCD11	105168335	1.000000	0.71417	0.998000	0.56505	0.052000	0.14988	8.428000	0.90278	2.271000	0.75665	0.459000	0.35465	GAC		0.582	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			53	70	0	0	0	1	0	53	70				
PDE3A	5139	broad.mit.edu	37	12	20769226	20769226	+	Silent	SNP	C	C	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr12:20769226C>A	ENST00000359062.3	+	4	1372	c.1332C>A	c.(1330-1332)acC>acA	p.T444T	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	444	Poly-Thr.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GGACCACCACCACCTCGGCCA	0.532																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(1330-1332)acC>acA		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						124.0	113.0	117.0					12																	20769226		2203	4300	6503	SO:0001819	synonymous_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20769226C>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1332C>A	12.37:g.20769226C>A						PDE3A_ENST00000544307.1_3'UTR	p.T444T	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			4	1372	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	444			Poly-Thr.		O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	c.1332C>A	CCDS31754.1																																																																																				0.532	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			4	126	1	0	0.217242	1	0.217242	4	126				
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C	rs202014361	byFrequency	TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr10:47207813T>C	ENST00000452145.2	-	4	506	c.395A>G	c.(394-396)cAt>cGt	p.H132R	AGAP10_ENST00000355232.3_Splice_Site_p.H157R|AGAP10_ENST00000413193.2_Splice_Site_p.H228R|RP11-144G6.12_ENST00000605970.1_RNA			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	132					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294																																						ENST00000355232.3																			20	Substitution - Missense(20)	p.H228R(20)	endometrium(10)|prostate(4)|kidney(4)|urinary_tract(2)	endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						c.e5+1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 10																																				SO:0001630	splice_region_variant	728127							g.chr10:47207813T>C	BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.396+1A>G	10.37:g.47207813T>C						AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice	p.H157_splice							5	3482	-									Splice_Site	SNP	ENST00000452145.2	37	c.471_splice		.	.	.	.	.	.	.	.	.	.	t	0.012	-1.675265	0.00751	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;T;D	0.87966	-2.32;2.68;-2.32	1.4	1.4	0.22301	.	0.264128	0.34555	N	0.003879	T	0.72486	0.3466	.	.	.	0.20764	N	0.999856	B	0.22003	0.063	B	0.19666	0.026	T	0.55471	-0.8136	9	0.16896	T	0.51	.	6.9024	0.24291	0.0:0.0:0.0:1.0	.	132	Q5T2P9	AGA10_HUMAN	R	132;228;157	ENSP00000392206:H132R;ENSP00000407436:H228R;ENSP00000347372:H157R	ENSP00000347372:H157R	H	-	2	0	AGAP10	46627819	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.704000	0.54815	0.898000	0.36418	0.163000	0.16589	CAT		0.294	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2	XM_001714786.2	Missense_Mutation	5	142	0	0	0	1	0	5	142				
FGA	2243	broad.mit.edu	37	4	155508066	155508066	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr4:155508066T>C	ENST00000302053.3	-	5	593	c.515A>G	c.(514-516)gAc>gGc	p.D172G	FGA_ENST00000403106.3_Missense_Mutation_p.D172G	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	172					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AATATCAATGTCCACCTAGAG	0.388																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(514-516)gAc>gGc		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						64.0	65.0	65.0					4																	155508066		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155508066T>C		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.515A>G	4.37:g.155508066T>C	ENSP00000306361:p.Asp172Gly					FGA_ENST00000403106.3_Missense_Mutation_p.D172G	p.D172G	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			5	593	-	all_hematologic(180;0.215)	Renal(120;0.0458)	172					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.515A>G	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	T	19.25	3.791386	0.70452	.	.	ENSG00000171560	ENST00000302053;ENST00000403106;ENST00000457487	D;D	0.87179	-2.22;-2.22	6.17	6.17	0.99709	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	0.044570	0.85682	N	0.000000	D	0.93546	0.7940	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.94058	0.7324	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	172;172	P02671-2;P02671	.;FIBA_HUMAN	G	172	ENSP00000306361:D172G;ENSP00000385981:D172G	ENSP00000306361:D172G	D	-	2	0	FGA	155727516	1.000000	0.71417	1.000000	0.80357	0.289000	0.27227	6.506000	0.73712	2.371000	0.80710	0.533000	0.62120	GAC		0.388	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		31	62	0	0	0	1	0	31	62				
PLXNA2	5362	broad.mit.edu	37	1	208390748	208390748	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr1:208390748G>A	ENST00000367033.3	-	2	1277	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	174	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.R174C(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCCTCAGAGCGCACAATCACC	0.602																																						ENST00000367033.3																			1	Substitution - Missense(1)	p.R174C(1)	kidney(1)	NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(520-522)Cgc>Tgc		plexin A2							158.0	159.0	159.0					1																	208390748		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208390748G>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.520C>T	1.37:g.208390748G>A	ENSP00000356000:p.Arg174Cys						p.R174C	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	2	1277	-			174			Sema.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.520C>T	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696120	0.48202	.	.	ENSG00000076356	ENST00000367033	T	0.11712	2.75	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.139948	0.50627	D	0.000113	T	0.14399	0.0348	N	0.14661	0.345	0.58432	D	0.999999	B;D	0.71674	0.234;0.998	B;P	0.56088	0.057;0.791	T	0.02925	-1.1093	10	0.59425	D	0.04	.	15.3456	0.74334	0.0:0.1391:0.8609:0.0	.	228;174	O75051-2;O75051	.;PLXA2_HUMAN	C	174	ENSP00000356000:R174C	ENSP00000356000:R174C	R	-	1	0	PLXNA2	206457371	1.000000	0.71417	1.000000	0.80357	0.192000	0.23643	7.537000	0.82033	2.697000	0.92050	0.563000	0.77884	CGC		0.602	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		6	311	0	0	0	1	0	6	311				
ZNF845	91664	broad.mit.edu	37	19	53856761	53856761	+	Missense_Mutation	SNP	T	T	C	rs528924232		TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr19:53856761T>C	ENST00000595091.1	+	5	3052	c.2833T>C	c.(2833-2835)Tgt>Cgt	p.C945R	ZNF845_ENST00000458035.1_Missense_Mutation_p.C945R			Q96IR2	ZN845_HUMAN	zinc finger protein 845	945					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C945R(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACCTTACAAGTGTAATGAATG	0.348																																						ENST00000458035.1																			1	Substitution - Missense(1)	p.C945R(1)	kidney(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2833-2835)Tgt>Cgt		zinc finger protein 845							25.0	23.0	24.0					19																	53856761		692	1590	2282	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856761T>C	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2833T>C	19.37:g.53856761T>C	ENSP00000470005:p.Cys945Arg					ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R	p.C945R	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2950	+			945						Missense_Mutation	SNP	ENST00000595091.1	37	c.2833T>C	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	T	7.922	0.738844	0.15642	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	D	0.85258	-1.96	2.04	0.921	0.19403	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94417	0.8204	H	0.99336	4.52	0.38301	D	0.942985	D	0.89917	1.0	D	0.91635	0.999	D	0.91222	0.5007	9	0.66056	D	0.02	.	6.1858	0.20495	0.2258:0.0:0.0:0.7742	.	945	Q96IR2	ZN845_HUMAN	R	945;861	ENSP00000388311:C945R	ENSP00000412086:C861R	C	+	1	0	ZNF845	58548573	1.000000	0.71417	0.080000	0.20451	0.053000	0.15095	4.520000	0.60524	0.031000	0.15407	-0.871000	0.02989	TGT		0.348	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		4	78	0	0	0	1	0	4	78				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000567960.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																0							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C						TUBB8P7_ENST00000564451.1_RNA								0	662	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	62	0	0	0	1	0	5	62				
RP11-483E23.2	0	broad.mit.edu	37	15	28599954	28599954	+	RNA	SNP	A	A	G			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr15:28599954A>G	ENST00000568624.1	-	0	452																											GGCTGTAGTAAAGTGCCATCT	0.478																																						ENST00000568624.1																			0																																																			0							g.chr15:28599954A>G																													15.37:g.28599954A>G														0	452	-									RNA	SNP	ENST00000568624.1	37																																																																																						0.478	RP11-483E23.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000431212.1			5	111	0	0	0	1	0	5	111				
CTAGE1	64693	broad.mit.edu	37	18	19997008	19997008	+	5'Flank	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr18:19997008G>A	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.T256M			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					ATCATCATCCGTTACATCTTC	0.373																																						ENST00000391403.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27						c.(766-768)aCg>aTg		cutaneous T-cell lymphoma-associated antigen 1							127.0	127.0	127.0					18																	19997008		2200	4300	6500	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19997008G>A	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19997008G>A	Exception_encountered						p.T256M	NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN			1	870	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		256					B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37	c.767C>T		.	.	.	.	.	.	.	.	.	.	G	0.009	-1.860909	0.00552	.	.	ENSG00000212710	ENST00000391403	T	0.39592	1.07	0.741	-1.48	0.08745	.	.	.	.	.	T	0.20700	0.0498	N	0.13327	0.33	0.09310	N	1	B	0.24533	0.105	B	0.25291	0.059	T	0.21280	-1.0250	8	.	.	.	.	4.7611	0.13108	0.7329:0.0:0.2671:0.0	.	256	Q96RT6	CTGE2_HUMAN	M	256	ENSP00000375220:T256M	.	T	-	2	0	CTAGE1	18251006	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.086000	0.11233	-1.411000	0.02032	-1.844000	0.00574	ACG		0.373	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		12	191	0	0	0	1	0	12	191				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	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		5	68	0	0	0	1	0	5	68				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			7	423	0	0	0	1	0	7	423				
IRAK1	3654	broad.mit.edu	37	X	153282062	153282062	+	Silent	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chrX:153282062G>A	ENST00000369980.3	-	9	1229	c.1062C>T	c.(1060-1062)ccC>ccT	p.P354P	IRAK1_ENST00000369974.2_Silent_p.P354P|IRAK1_ENST00000429936.2_Silent_p.P380P|IRAK1_ENST00000393687.2_Silent_p.P354P|IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000393682.1_Silent_p.P380P	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	354	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCCCAGCTTGGGTGTCAGCC	0.642																																						ENST00000369980.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25						c.(1060-1062)ccC>ccT		interleukin-1 receptor-associated kinase 1							45.0	44.0	44.0					X																	153282062		2201	4300	6501	SO:0001819	synonymous_variant	3654				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity	g.chrX:153282062G>A	L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.1062C>T	X.37:g.153282062G>A						IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000429936.2_Silent_p.P380P|IRAK1_ENST00000393682.1_Silent_p.P380P|IRAK1_ENST00000393687.2_Silent_p.P354P|IRAK1_ENST00000369974.2_Silent_p.P354P	p.P354P	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN			9	1229	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		354			Protein kinase.		D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Silent	SNP	ENST00000369980.3	37	c.1062C>T	CCDS14740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.55|10.55	1.380604|1.380604	0.24944|0.24944	.|.	.|.	ENSG00000184216|ENSG00000184216	ENST00000437278|ENST00000443220	D|.	0.92446|.	-3.04|.	4.81|4.81	2.84|2.84	0.33178|0.33178	.|.	0.000000|.	0.52532|.	D|.	0.000075|.	T|.	0.56396|.	0.1982|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.50767|.	-0.8789|.	7|.	0.87932|.	D|.	0|.	-24.5821|-24.5821	8.1866|8.1866	0.31343|0.31343	0.0:0.4525:0.3877:0.1599|0.0:0.4525:0.3877:0.1599	.|.	.|.	.|.	.|.	L|X	27|125	ENSP00000406249:P27L|.	ENSP00000406249:P27L|.	P|Q	-|-	2|1	0|0	IRAK1|IRAK1	152935256|152935256	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	0.310000|0.310000	0.19356|0.19356	0.819000|0.819000	0.34492|0.34492	0.526000|0.526000	0.51066|0.51066	CCA|CAA		0.642	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3			24	42	0	0	0	1	0	24	42				
DCBLD1	285761	broad.mit.edu	37	6	117861894	117861894	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr6:117861894G>A	ENST00000338728.5	+	10	1285	c.1165G>A	c.(1165-1167)Gcc>Acc	p.A389T	DCBLD1_ENST00000296955.8_Missense_Mutation_p.A389T|DCBLD1_ENST00000368503.4_Intron|DCBLD1_ENST00000534777.1_3'UTR|GOPC_ENST00000467125.1_Intron			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	389	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TCCCATCGTGGCCAGATATGT	0.473																																						ENST00000338728.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1165-1167)Gcc>Acc		discoidin, CUB and LCCL domain containing 1							140.0	140.0	140.0					6																	117861894		2203	4300	6503	SO:0001583	missense	285761				cell adhesion	integral to membrane		g.chr6:117861894G>A	AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.1165G>A	6.37:g.117861894G>A	ENSP00000342422:p.Ala389Thr					DCBLD1_ENST00000534777.1_3'UTR|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Missense_Mutation_p.A389T|DCBLD1_ENST00000368503.4_Intron	p.A389T			Q8N8Z6	DCBD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)	10	1285	+		all_cancers(87;0.171)	389			F5/8 type C.		Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Missense_Mutation	SNP	ENST00000338728.5	37	c.1165G>A		.	.	.	.	.	.	.	.	.	.	G	24.8	4.575632	0.86645	.	.	ENSG00000164465	ENST00000296955;ENST00000392504;ENST00000338728	D;D	0.99719	-6.52;-6.52	4.54	4.54	0.55810	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.062950	0.64402	D	0.000008	D	0.99339	0.9768	L	0.41415	1.275	0.80722	D	1	D;D	0.89917	0.964;1.0	D;D	0.83275	0.922;0.996	D	0.99517	1.0957	10	0.27785	T	0.31	-18.0331	17.4823	0.87675	0.0:0.0:1.0:0.0	.	389;389	Q8N8Z6-2;Q8N8Z6	.;DCBD1_HUMAN	T	389;44;389	ENSP00000296955:A389T;ENSP00000342422:A389T	ENSP00000296955:A389T	A	+	1	0	DCBLD1	117968587	1.000000	0.71417	0.993000	0.49108	0.965000	0.64279	6.265000	0.72534	2.364000	0.80123	0.561000	0.74099	GCC		0.473	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000041979.2	NM_173674		38	117	0	0	0	1	0	38	117				
ART1	417	broad.mit.edu	37	11	3680945	3680945	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr11:3680945C>T	ENST00000250693.1	+	3	297	c.196C>T	c.(196-198)Cac>Tac	p.H66Y		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	66					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		GGATCTCAACCACACGGAGTT	0.592																																						ENST00000250693.1																			0				endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8						c.(196-198)Cac>Tac		ADP-ribosyltransferase 1	Becaplermin(DB00102)						46.0	41.0	43.0					11																	3680945		2201	4298	6499	SO:0001583	missense	417				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	g.chr11:3680945C>T	S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"""CD molecules"""	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.196C>T	11.37:g.3680945C>T	ENSP00000250693:p.His66Tyr						p.H66Y	NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	3	297	+		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	66					Q6NTD2|Q96KT9	Missense_Mutation	SNP	ENST00000250693.1	37	c.196C>T	CCDS7744.1	.	.	.	.	.	.	.	.	.	.	C	7.981	0.751154	0.15778	.	.	ENSG00000129744	ENST00000250693	T	0.08370	3.1	5.38	4.48	0.54585	.	0.932955	0.09245	N	0.828725	T	0.07279	0.0184	N	0.22421	0.69	0.27609	N	0.94873	B	0.02656	0.0	B	0.08055	0.003	T	0.35126	-0.9801	9	.	.	.	.	11.9202	0.52787	0.0:0.9149:0.0:0.0851	.	66	P52961	NAR1_HUMAN	Y	66	ENSP00000250693:H66Y	.	H	+	1	0	ART1	3637521	0.722000	0.28017	0.837000	0.33122	0.329000	0.28539	1.234000	0.32660	1.280000	0.44463	0.467000	0.42956	CAC		0.592	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032765.1	NM_004314		11	37	0	0	0	1	0	11	37				
MRPL50	54534	broad.mit.edu	37	9	104152867	104152867	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr9:104152867T>C	ENST00000374865.4	-	2	379	c.358A>G	c.(358-360)Atg>Gtg	p.M120V	MRPL50_ENST00000539624.1_Missense_Mutation_p.M120V	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	120						mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ACCCTGCACATCTGGTGGAGT	0.423																																						ENST00000374865.4																			0				large_intestine(1)|lung(2)|prostate(2)	5						c.(358-360)Atg>Gtg		mitochondrial ribosomal protein L50							94.0	90.0	91.0					9																	104152867		2203	4298	6501	SO:0001583	missense	54534					mitochondrion|ribosome		g.chr9:104152867T>C	AK000500	CCDS6753.1	9q31.1	2012-11-14			ENSG00000136897	ENSG00000136897		"""Mitochondrial ribosomal proteins / large subunits"""	16654	protein-coding gene	gene with protein product	"""mitochondrial 39S ribosomal protein L50"""	611854					Standard	NM_019051		Approved	FLJ20493, MRP-L50	uc004bbe.2	Q8N5N7	OTTHUMG00000020384	ENST00000374865.4:c.358A>G	9.37:g.104152867T>C	ENSP00000363999:p.Met120Val					MRPL50_ENST00000539624.1_Missense_Mutation_p.M120V	p.M120V	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN			2	379	-		Acute lymphoblastic leukemia(62;0.0559)	120					B7Z358|Q5T7E0|Q9NX15	Missense_Mutation	SNP	ENST00000374865.4	37	c.358A>G	CCDS6753.1	.	.	.	.	.	.	.	.	.	.	T	14.97	2.695081	0.48202	.	.	ENSG00000136897	ENST00000374865;ENST00000539624	T;T	0.39406	1.08;1.08	5.9	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.51907	0.1702	M	0.64404	1.975	0.34501	D	0.706055	P;P	0.50369	0.934;0.659	P;B	0.54238	0.746;0.284	T	0.64132	-0.6479	10	0.40728	T	0.16	-11.2496	10.9103	0.47106	0.0:0.0:0.1686:0.8314	.	120;120	B7Z358;Q8N5N7	.;RM50_HUMAN	V	120	ENSP00000363999:M120V;ENSP00000443844:M120V	ENSP00000363999:M120V	M	-	1	0	MRPL50	103192688	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	2.567000	0.45956	1.053000	0.40415	0.460000	0.39030	ATG		0.423	MRPL50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053450.1	NM_019051		49	111	0	0	0	1	0	49	111				
CCT8L2	150160	broad.mit.edu	37	22	17073284	17073284	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr22:17073284G>A	ENST00000359963.3	-	1	416	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	53					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CGGCCGTGGGGGCCATAGCAA	0.642																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(157-159)Ccc>Tcc		chaperonin containing TCP1, subunit 8 (theta)-like 2							66.0	68.0	67.0					22																	17073284		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17073284G>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.157C>T	22.37:g.17073284G>A	ENSP00000353048:p.Pro53Ser						p.P53S	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	416	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	53					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.157C>T	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	g	14.81	2.646650	0.47258	.	.	ENSG00000198445	ENST00000359963	D	0.95788	-3.81	2.0	2.0	0.26442	.	0.000000	0.38217	U	0.001767	D	0.97065	0.9041	M	0.84683	2.71	0.37702	D	0.924234	D	0.89917	1.0	D	0.97110	1.0	D	0.96828	0.9609	10	0.87932	D	0	-20.1923	7.4831	0.27417	0.0:0.0:1.0:0.0	.	53	Q96SF2	TCPQM_HUMAN	S	53	ENSP00000353048:P53S	ENSP00000353048:P53S	P	-	1	0	CCT8L2	15453284	1.000000	0.71417	0.986000	0.45419	0.755000	0.42902	3.543000	0.53633	1.126000	0.42016	0.393000	0.25936	CCC		0.642	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			63	80	0	0	0	1	0	63	80				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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			60	81	0	0	0	1	0	60	81				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		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.chr17:7577121G>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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	p.R273C	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	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|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.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	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	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		38	7	0	0	0	1	0	38	7				
SCN10A	6336	broad.mit.edu	37	3	38748793	38748793	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr3:38748793G>T	ENST00000449082.2	-	25	4362	c.4363C>A	c.(4363-4365)Cag>Aag	p.Q1455K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1455					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	ATGGGCTTCTGGGGCTTCTTG	0.557																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(4363-4365)Cag>Aag		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						119.0	129.0	125.0					3																	38748793		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38748793G>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4363C>A	3.37:g.38748793G>T	ENSP00000390600:p.Gln1455Lys						p.Q1455K	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	25	4362	-			1455					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.4363C>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952992	0.92660	.	.	ENSG00000185313	ENST00000449082	D	0.95622	-3.76	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.97365	0.9138	M	0.73217	2.22	0.48087	D	0.999586	D	0.64830	0.994	D	0.70227	0.968	D	0.97370	0.9975	10	0.54805	T	0.06	.	18.8473	0.92212	0.0:0.0:1.0:0.0	.	1455	Q9Y5Y9	SCNAA_HUMAN	K	1455	ENSP00000390600:Q1455K	ENSP00000390600:Q1455K	Q	-	1	0	SCN10A	38723797	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.601000	0.82783	2.694000	0.91930	0.655000	0.94253	CAG		0.557	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		16	60	1	0	8.00594e-06	1	8.27733e-06	16	60				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						ENST00000391415.1																			1	Substitution - Missense(1)	p.D18V(1)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)gAc>gTc		keratin associated protein 4-9							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	110	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		4	75	0	0	0	1	0	4	75				
HTRA2	27429	broad.mit.edu	37	2	74757848	74757848	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr2:74757848G>A	ENST00000258080.3	+	2	1241	c.611G>A	c.(610-612)cGc>cAc	p.R204H	HTRA2_ENST00000352222.3_Missense_Mutation_p.R204H|HTRA2_ENST00000467961.1_3'UTR|AUP1_ENST00000377526.3_5'Flank	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	204	Serine protease.				adult walking behavior (GO:0007628)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|ceramide metabolic process (GO:0006672)|execution phase of apoptosis (GO:0097194)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitochondrion organization (GO:0007005)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|pentacyclic triterpenoid metabolic process (GO:0019742)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell death (GO:0010942)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of mitochondrion degradation (GO:1903146)|regulation of multicellular organism growth (GO:0040014)|response to herbicide (GO:0009635)	CD40 receptor complex (GO:0035631)|chromatin (GO:0000785)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)|unfolded protein binding (GO:0051082)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						GCTGATCGGCGCAGAGTCCGT	0.602																																						ENST00000258080.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(610-612)cGc>cAc		HtrA serine peptidase 2							59.0	61.0	61.0					2																	74757848		2203	4300	6503	SO:0001583	missense	27429				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding	g.chr2:74757848G>A		CCDS1951.1, CCDS1952.1	2p13.1	2011-07-21	2005-08-19	2005-08-19	ENSG00000115317	ENSG00000115317		"""Serine peptidases / Serine peptidases"", ""Parkinson disease"""	14348	protein-coding gene	gene with protein product		606441	"""protease, serine, 25"""	PRSS25		10644717, 10971580	Standard	XM_005264266		Approved	OMI, PARK13	uc002smi.1	O43464	OTTHUMG00000129957	ENST00000258080.3:c.611G>A	2.37:g.74757848G>A	ENSP00000258080:p.Arg204His					HTRA2_ENST00000352222.3_Missense_Mutation_p.R204H|HTRA2_ENST00000467961.1_3'UTR	p.R204H	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN			2	1241	+			204			Serine protease.		Q9HBZ4|Q9P0Y3|Q9P0Y4	Missense_Mutation	SNP	ENST00000258080.3	37	c.611G>A	CCDS1951.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702439	0.68501	.	.	ENSG00000115317	ENST00000258080;ENST00000352222;ENST00000437202	D;D;D	0.88586	-2.4;-2.4;-2.4	4.94	4.94	0.65067	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	0.109678	0.64402	D	0.000009	D	0.88570	0.6472	L	0.27975	0.815	0.27912	N	0.938579	D;D;D;D	0.89917	0.985;1.0;0.999;0.985	P;D;D;P	0.70016	0.607;0.967;0.956;0.607	T	0.80852	-0.1197	10	0.35671	T	0.21	-7.3943	9.1348	0.36868	0.0967:0.0:0.9033:0.0	.	204;204;204;204	A8K7G2;O43464-3;O43464-2;O43464	.;.;.;HTRA2_HUMAN	H	204;204;191	ENSP00000258080:R204H;ENSP00000312893:R204H;ENSP00000399166:R191H	ENSP00000258080:R204H	R	+	2	0	HTRA2	74611356	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.747000	0.85070	2.584000	0.87258	0.462000	0.41574	CGC		0.602	HTRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252219.2	NM_013247		4	113	0	0	0	1	0	4	113				
CDC27	996	broad.mit.edu	37	17	45216210	45216210	+	Silent	SNP	A	A	C	rs62075659		TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr17:45216210A>C	ENST00000066544.3	-	13	1692	c.1599T>G	c.(1597-1599)gtT>gtG	p.V533V	CDC27_ENST00000531206.1_Silent_p.V539V|CDC27_ENST00000446365.2_Silent_p.V472V|CDC27_ENST00000527547.1_Silent_p.V532V	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	533					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.V533V(1)|p.V539V(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCATGCCTTCAACTCTATAAT	0.318																																						ENST00000066544.3																			2	Substitution - coding silent(2)	p.V533V(1)|p.V539V(1)	large_intestine(2)	NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1597-1599)gtT>gtG		cell division cycle 27							36.0	40.0	39.0					17																	45216210		2200	4297	6497	SO:0001819	synonymous_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45216210A>C	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1599T>G	17.37:g.45216210A>C						CDC27_ENST00000527547.1_Silent_p.V532V|CDC27_ENST00000446365.2_Silent_p.V472V|CDC27_ENST00000531206.1_Silent_p.V539V	p.V533V	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			13	1692	-			533					G3V1C4|Q16349|Q96F35	Silent	SNP	ENST00000066544.3	37	c.1599T>G	CCDS11509.1																																																																																				0.318	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			4	85	0	0	0	1	0	4	85				
ZNF280C	55609	broad.mit.edu	37	X	129370584	129370584	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chrX:129370584G>A	ENST00000370978.4	-	7	676	c.523C>T	c.(523-525)Cat>Tat	p.H175Y		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	175	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						GTAGAAGGATGTTTCAACACA	0.308																																						ENST00000370978.4																			0				endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(523-525)Cat>Tat		zinc finger protein 280C							105.0	87.0	93.0					X																	129370584		2203	4300	6503	SO:0001583	missense	55609				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:129370584G>A	AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 3 (Drosophila)"""	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.523C>T	X.37:g.129370584G>A	ENSP00000360017:p.His175Tyr						p.H175Y	NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN			7	676	-			175			Ser-rich.		A8K2V8|Q9NXR3	Missense_Mutation	SNP	ENST00000370978.4	37	c.523C>T	CCDS14622.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.307941	0.40895	.	.	ENSG00000056277	ENST00000066465;ENST00000370978;ENST00000447817	T;T	0.25085	1.82;1.82	4.3	2.46	0.29980	.	.	.	.	.	T	0.17109	0.0411	L	0.34521	1.04	0.09310	N	0.999991	B;B	0.33964	0.056;0.434	B;B	0.39299	0.038;0.296	T	0.24621	-1.0155	9	0.02654	T	1	.	6.4784	0.22049	0.1084:0.1824:0.7092:0.0	.	175;175	Q9UJJ2;Q8ND82	.;Z280C_HUMAN	Y	175	ENSP00000360017:H175Y;ENSP00000408521:H175Y	ENSP00000066465:H175Y	H	-	1	0	ZNF280C	129198265	0.750000	0.28316	0.023000	0.16930	0.037000	0.13140	0.786000	0.26844	0.375000	0.24679	0.468000	0.43344	CAT		0.308	ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666		44	68	0	0	0	1	0	44	68				
CNKSR3	154043	broad.mit.edu	37	6	154743663	154743663	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr6:154743663G>A	ENST00000607772.1	-	9	1466	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	CNKSR3_ENST00000433165.2_Missense_Mutation_p.R133W|CNKSR3_ENST00000479339.1_Missense_Mutation_p.R228W	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	308					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GGCTTCCACCGTAGGTTTTTC	0.443																																						ENST00000607772.1																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(922-924)Cgg>Tgg		CNKSR family member 3							125.0	134.0	131.0					6																	154743663		2203	4300	6503	SO:0001583	missense	154043				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		g.chr6:154743663G>A	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.922C>T	6.37:g.154743663G>A	ENSP00000475915:p.Arg308Trp					CNKSR3_ENST00000433165.2_Missense_Mutation_p.R133W|CNKSR3_ENST00000479339.1_Missense_Mutation_p.R228W	p.R308W	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	9	1466	-		Ovarian(120;0.196)	308					Q5SGD5|Q96N65	Missense_Mutation	SNP	ENST00000607772.1	37	c.922C>T	CCDS5246.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.220598	0.39201	.	.	ENSG00000153721	ENST00000367209;ENST00000367213;ENST00000433165;ENST00000479339;ENST00000424998;ENST00000454664	T;T;T;T	0.54866	1.22;0.61;0.62;0.55	5.66	3.76	0.43208	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.58807	0.2148	L	0.55990	1.75	0.39387	D	0.966352	D	0.89917	1.0	D	0.91635	0.999	T	0.65730	-0.6097	10	0.87932	D	0	.	13.8647	0.63581	0.0:0.0:0.5291:0.4709	.	308	Q6P9H4	CNKR3_HUMAN	W	83;308;133;228;70;133	ENSP00000356182:R308W;ENSP00000414185:R133W;ENSP00000418975:R228W;ENSP00000406740:R133W	ENSP00000356178:R83W	R	-	1	2	CNKSR3	154785355	1.000000	0.71417	0.320000	0.25306	0.016000	0.09150	2.966000	0.49208	1.357000	0.45904	0.655000	0.94253	CGG		0.443	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515		5	177	0	0	0	1	0	5	177				
FCHO2	115548	broad.mit.edu	37	5	72383519	72383519	+	Silent	SNP	A	A	G			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr5:72383519A>G	ENST00000430046.2	+	25	2465	c.2349A>G	c.(2347-2349)gtA>gtG	p.V783V	FCHO2_ENST00000512348.1_Silent_p.V750V|FCHO2_ENST00000341845.6_Silent_p.V783V	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	783	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Mediates interaction with DAB2, EPS15, EPS15R and ITSN1.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		TTTCAGGAGTAGATTTCGAAC	0.438																																						ENST00000430046.2																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17						c.(2347-2349)gtA>gtG		FCH domain only 2							127.0	124.0	125.0					5																	72383519		1844	4085	5929	SO:0001819	synonymous_variant	115548							g.chr5:72383519A>G	AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.2349A>G	5.37:g.72383519A>G						FCHO2_ENST00000512348.1_Silent_p.V750V|FCHO2_ENST00000341845.6_Silent_p.V783V	p.V783V	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)	25	2465	+		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)	783					A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Silent	SNP	ENST00000430046.2	37	c.2349A>G	CCDS47230.1																																																																																				0.438	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142		43	124	0	0	0	1	0	43	124				
MERTK	10461	broad.mit.edu	37	2	112777033	112777033	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr2:112777033C>T	ENST00000295408.4	+	16	2380	c.2123C>T	c.(2122-2124)gCc>gTc	p.A708V	MERTK_ENST00000409780.1_Missense_Mutation_p.A532V|MERTK_ENST00000421804.2_Missense_Mutation_p.A708V			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	708	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		A -> S (in a head & Neck squamous cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GTGGATATTGCCCTGGGAATG	0.413																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(2122-2124)gCc>gTc		c-mer proto-oncogene tyrosine kinase							172.0	173.0	173.0					2																	112777033		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112777033C>T	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2123C>T	2.37:g.112777033C>T	ENSP00000295408:p.Ala708Val					MERTK_ENST00000421804.2_Missense_Mutation_p.A708V|MERTK_ENST00000409780.1_Missense_Mutation_p.A532V	p.A708V			Q12866	MERTK_HUMAN			16	2380	+			708		A -> S (in a head & Neck squamous cell carcinoma sample; somatic mutation).	Protein kinase.		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.2123C>T	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	C	35	5.487976	0.96323	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780;ENST00000449344	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	5.39	5.39	0.77823	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.33346	U	0.005014	D	0.95595	0.8568	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95951	0.8954	10	0.87932	D	0	-25.8301	19.5203	0.95182	0.0:1.0:0.0:0.0	.	708	Q12866	MERTK_HUMAN	V	708;708;344;532;15	ENSP00000295408:A708V;ENSP00000389152:A708V;ENSP00000387277:A532V;ENSP00000412660:A15V	ENSP00000295408:A708V	A	+	2	0	MERTK	112493504	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.731000	0.84895	2.678000	0.91216	0.655000	0.94253	GCC		0.413	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			5	285	0	0	0	1	0	5	285				
LIPE	3991	broad.mit.edu	37	19	42930686	42930686	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr19:42930686A>G	ENST00000244289.4	-	1	892	c.616T>C	c.(616-618)Ttt>Ctt	p.F206L	LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|CTB-50E14.4_ENST00000596781.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	206					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TTTGTTAGAAATCCCAGCTCT	0.488																																						ENST00000244289.4																			0				breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(616-618)Ttt>Ctt		lipase, hormone-sensitive							120.0	118.0	119.0					19																	42930686		2203	4300	6503	SO:0001583	missense	3991				cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42930686A>G	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.616T>C	19.37:g.42930686A>G	ENSP00000244289:p.Phe206Leu					LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA	p.F206L	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			1	892	-		Prostate(69;0.00682)	206					Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	c.616T>C	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.170211	0.38315	.	.	ENSG00000079435	ENST00000244289	T	0.21191	2.02	3.58	2.54	0.30619	.	0.388324	0.18996	N	0.125463	T	0.19005	0.0456	M	0.65975	2.015	0.09310	N	1	B	0.29378	0.243	B	0.18561	0.022	T	0.16482	-1.0401	10	0.52906	T	0.07	-1.4951	6.3414	0.21324	0.7816:0.0:0.0:0.2184	.	206	Q05469	LIPS_HUMAN	L	206	ENSP00000244289:F206L	ENSP00000244289:F206L	F	-	1	0	LIPE	47622526	0.598000	0.26882	0.006000	0.13384	0.458000	0.32498	1.004000	0.29822	0.677000	0.31305	0.533000	0.62120	TTT		0.488	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357		50	64	0	0	0	1	0	50	64				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		5	88	0	0	0	1	0	5	88				
IFNA21	3452	broad.mit.edu	37	9	21166307	21166307	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr9:21166307T>C	ENST00000380225.1	-	1	352	c.305A>G	c.(304-306)cAg>cGg	p.Q102R		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	102					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TAGGAGGCTCTGTTCCCAAGT	0.498																																						ENST00000380225.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14						c.(304-306)cAg>cGg		interferon, alpha 21							131.0	136.0	134.0					9																	21166307		2203	4300	6503	SO:0001583	missense	3452				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21166307T>C		CCDS6497.1	9p22	2010-12-10			ENSG00000137080	ENSG00000137080		"""Interferons"""	5424	protein-coding gene	gene with protein product	"""leukocyte interferon protein"""	147584				1385305	Standard	NM_002175		Approved	IFN-alphaI	uc003zom.2	P01568	OTTHUMG00000019653	ENST00000380225.1:c.305A>G	9.37:g.21166307T>C	ENSP00000369574:p.Gln102Arg						p.Q102R	NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN		GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	352	-			102					Q14608|Q5VWD1|Q7M4Q4	Missense_Mutation	SNP	ENST00000380225.1	37	c.305A>G	CCDS6497.1	.	.	.	.	.	.	.	.	.	.	N	8.192	0.796304	0.16327	.	.	ENSG00000137080	ENST00000380225	T	0.05513	3.43	4.02	-1.47	0.08772	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.201640	0.05752	N	0.603402	T	0.06142	0.0159	L	0.29908	0.895	0.09310	N	1	B	0.19935	0.04	B	0.29440	0.102	T	0.47509	-0.9112	10	0.37606	T	0.19	.	6.8732	0.24133	0.147:0.0:0.4835:0.3696	.	102	P01568	IFN21_HUMAN	R	102	ENSP00000369574:Q102R	ENSP00000369574:Q102R	Q	-	2	0	IFNA21	21156307	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.559000	0.05971	-0.477000	0.06832	0.524000	0.50904	CAG		0.498	IFNA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051882.1	NM_002175		46	180	0	0	0	1	0	46	180				
SPTAN1	6709	broad.mit.edu	37	9	131353798	131353798	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr9:131353798C>T	ENST00000372731.4	+	22	3159	c.3049C>T	c.(3049-3051)Ccg>Tcg	p.P1017S	SPTAN1_ENST00000372739.3_Missense_Mutation_p.P1017S|SPTAN1_ENST00000358161.5_Missense_Mutation_p.P1017S	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1017	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.		P -> S (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.P1017S(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGGTTTTGTGCCGGCTGCGTA	0.522																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000358161.5																			1	Substitution - Missense(1)	p.P1017S(1)	breast(1)	NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(3049-3051)Ccg>Tcg		spectrin, alpha, non-erythrocytic 1							143.0	139.0	141.0					9																	131353798		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131353798C>T	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.3049C>T	9.37:g.131353798C>T	ENSP00000361816:p.Pro1017Ser					SPTAN1_ENST00000372731.4_Missense_Mutation_p.P1017S|SPTAN1_ENST00000372739.3_Missense_Mutation_p.P1017S	p.P1017S			Q13813	SPTA2_HUMAN			22	3162	+			1017		P -> S (in a breast cancer sample; somatic mutation).	SH3.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.3049C>T	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852999	0.71719	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	D;D;D	0.90504	-2.68;-2.68;-2.68	5.9	5.9	0.94986	Src homology-3 domain (5);Spectrin alpha chain, SH3 domain (1);	0.000000	0.85682	D	0.000000	D	0.97002	0.9021	H	0.95780	3.72	0.80722	D	1	D;D;D;D;D	0.89917	0.997;0.997;1.0;0.996;0.997	D;D;D;D;D	0.91635	0.992;0.992;0.999;0.986;0.992	D	0.97039	0.9756	10	0.52906	T	0.07	.	19.2669	0.93990	0.0:1.0:0.0:0.0	.	1017;1017;1017;1017;1017	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	S	1017	ENSP00000350882:P1017S;ENSP00000361816:P1017S;ENSP00000361824:P1017S	ENSP00000350882:P1017S	P	+	1	0	SPTAN1	130393619	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	7.298000	0.78815	2.798000	0.96311	0.650000	0.86243	CCG		0.522	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		5	231	0	0	0	1	0	5	231				
NINJ2	4815	broad.mit.edu	37	12	772646	772646	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr12:772646G>T	ENST00000305108.4	-	1	299	c.19C>A	c.(19-21)Cag>Aag	p.Q7K	RP11-218M22.1_ENST00000543884.1_RNA	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	ninjurin 2	0					nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|tissue regeneration (GO:0042246)	integral component of plasma membrane (GO:0005887)				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			GCACACAGCTGGCGGGACAGA	0.627																																						ENST00000305108.4																			0				large_intestine(3)|lung(1)|ovary(2)	6						c.(19-21)Cag>Aag		ninjurin 2							72.0	77.0	75.0					12																	772646		2203	4300	6503	SO:0001583	missense	4815				nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane		g.chr12:772646G>T	AF205633	CCDS8505.1, CCDS73418.1	12p13	2008-08-05			ENSG00000171840	ENSG00000171840			7825	protein-coding gene	gene with protein product		607297				10627596	Standard	XM_005253689		Approved		uc001qil.3	Q9NZG7	OTTHUMG00000090311	ENST00000305108.4:c.19C>A	12.37:g.772646G>T	ENSP00000307552:p.Gln7Lys					RP11-218M22.1_ENST00000543884.1_RNA	p.Q7K	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)		1	299	-	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		0						Missense_Mutation	SNP	ENST00000305108.4	37	c.19C>A	CCDS8505.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233612	0.58886	.	.	ENSG00000171840	ENST00000305108	T	0.46063	0.88	3.96	3.06	0.35304	.	.	.	.	.	T	0.24084	0.0583	N	0.19112	0.55	0.80722	D	1	P	0.43477	0.808	B	0.36534	0.227	T	0.02333	-1.1175	9	0.21014	T	0.42	-2.3828	11.647	0.51267	0.0:0.1796:0.8204:0.0	.	7	B4DJC1	.	K	7	ENSP00000307552:Q7K	ENSP00000307552:Q7K	Q	-	1	0	NINJ2	642907	1.000000	0.71417	0.996000	0.52242	0.711000	0.40976	4.662000	0.61525	0.878000	0.35920	-0.165000	0.13383	CAG		0.627	NINJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206673.2	NM_016533		21	127	1	0	5.26018e-13	1	5.62931e-13	21	127				
PIH1D3	139212	broad.mit.edu	37	X	106459933	106459933	+	Silent	SNP	T	T	C			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chrX:106459933T>C	ENST00000372453.3	+	3	248	c.186T>C	c.(184-186)ggT>ggC	p.G62G	PIH1D3_ENST00000535523.1_Silent_p.G62G|PIH1D3_ENST00000336387.4_Silent_p.G62G	NM_173494.1	NP_775765.1	Q9NQM4	PIHD3_HUMAN	PIH1 domain containing 3	62																	GAGCCATGGGTCCTGGGAATA	0.333																																						ENST00000535523.1																			0											c.(184-186)ggT>ggC		PIH1 domain containing 3							62.0	56.0	58.0					X																	106459933		2203	4297	6500	SO:0001819	synonymous_variant	139212							g.chrX:106459933T>C	AL136112	CCDS14528.1	Xq22.3	2014-05-20	2012-07-18	2012-07-18	ENSG00000080572	ENSG00000080572			28570	protein-coding gene	gene with protein product	"""sarcoma antigen NY-SAR-97"""		"""chromosome X open reading frame 41"""	CXorf41		12601173, 24421334	Standard	NM_001169154		Approved	MGC35261, NYSAR97	uc004enc.3	Q9NQM4	OTTHUMG00000022160	ENST00000372453.3:c.186T>C	X.37:g.106459933T>C						PIH1D3_ENST00000336387.4_Silent_p.G62G|PIH1D3_ENST00000372453.3_Silent_p.G62G	p.G62G	NM_001169154.1	NP_001162625.1					4	523	+								D3DUX5|Q86WE1	Silent	SNP	ENST00000372453.3	37	c.186T>C	CCDS14528.1																																																																																				0.333	PIH1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057832.1	NM_173494		35	109	0	0	0	1	0	35	109				
MYO5B	4645	broad.mit.edu	37	18	47367798	47367798	+	Silent	SNP	C	C	T			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr18:47367798C>T	ENST00000285039.7	-	35	4937	c.4638G>A	c.(4636-4638)acG>acA	p.T1546T	MYO5B_ENST00000324581.6_Silent_p.T661T|MYO5B_ENST00000592688.1_Silent_p.T116T|SCARNA17_ENST00000589499.1_RNA	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1546	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ACCAGAATGACGTCATCTCAA	0.522																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(4636-4638)acG>acA		myosin VB							159.0	161.0	160.0					18																	47367798		2043	4187	6230	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47367798C>T	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.4638G>A	18.37:g.47367798C>T						SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Silent_p.T661T|MYO5B_ENST00000592688.1_Silent_p.T116T	p.T1546T	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	35	4937	-			1546			Dilute.		B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.4638G>A	CCDS42436.1																																																																																				0.522	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			83	155	0	0	0	1	0	83	155				
LEPR	3953	broad.mit.edu	37	1	66102486	66102486	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr1:66102486G>A	ENST00000349533.6	+	20	3471	c.3286G>A	c.(3286-3288)Gac>Aac	p.D1096N	LEPR_ENST00000406510.3_Missense_Mutation_p.D163N	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GCTTTTGACTGACAAGTCAAG	0.403																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(3286-3288)Gac>Aac		leptin receptor							72.0	71.0	71.0					1																	66102486		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66102486G>A	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.3286G>A	1.37:g.66102486G>A	ENSP00000330393:p.Asp1096Asn					LEPR_ENST00000406510.3_Missense_Mutation_p.D163N	p.D1096N	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	20	3471	+			1096					Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.3286G>A	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	8.072	0.770563	0.15983	.	.	ENSG00000116678	ENST00000349533;ENST00000406510	T	0.55234	0.53	5.49	3.37	0.38596	.	1.109400	0.06650	N	0.762514	T	0.22936	0.0554	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.30563	-0.9974	10	0.30854	T	0.27	-0.4236	10.2822	0.43545	0.1831:0.0:0.8169:0.0	.	1096	P48357	LEPR_HUMAN	N	1096;163	ENSP00000330393:D1096N	ENSP00000330393:D1096N	D	+	1	0	LEPR	65875074	0.541000	0.26417	0.001000	0.08648	0.001000	0.01503	2.995000	0.49441	0.501000	0.28013	0.585000	0.79938	GAC		0.403	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		4	111	0	0	0	1	0	4	111				
FAM3B	54097	broad.mit.edu	37	21	42694963	42694963	+	Missense_Mutation	SNP	C	C	T	rs528828387	byFrequency	TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr21:42694963C>T	ENST00000357985.2	+	2	279	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398647.3_Intron|FAM3B_ENST00000398652.3_Missense_Mutation_p.R84C|FAM3B_ENST00000398646.3_Missense_Mutation_p.R68C	NM_058186.3	NP_478066.3	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	45					apoptotic process (GO:0006915)|insulin secretion (GO:0030073)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				CTATAGCATCCGCAGCATCGG	0.602													C|||	5	0.000998403	0.0	0.0	5008	,	,		21412	0.0		0.0	False		,,,				2504	0.0051					ENST00000398652.3																			0				central_nervous_system(2)|endometrium(1)|lung(2)	5						c.(250-252)Cgc>Tgc		family with sequence similarity 3, member B							108.0	89.0	95.0					21																	42694963		2203	4300	6503	SO:0001583	missense	54097				apoptosis|insulin secretion	extracellular space	cytokine activity	g.chr21:42694963C>T	AF494379	CCDS13671.1, CCDS42930.1	21q22.3	2014-08-14	2002-05-23	2002-06-20	ENSG00000183844	ENSG00000183844			1253	protein-coding gene	gene with protein product	"""pancreatic-derived factor"""	608617	"""chromosome 21 open reading frame 11"""	C21orf11			Standard	NM_058186		Approved	D21M16SJHU19e, PRED44, 2-21, ORF9, C21orf76, PANDER	uc002yzb.1	P58499	OTTHUMG00000086752	ENST00000357985.2:c.133C>T	21.37:g.42694963C>T	ENSP00000350673:p.Arg45Cys					FAM3B_ENST00000357985.2_Missense_Mutation_p.R45C|FAM3B_ENST00000398646.3_Missense_Mutation_p.R68C|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398647.3_Intron	p.R84C			P58499	FAM3B_HUMAN			3	316	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)	45						Missense_Mutation	SNP	ENST00000357985.2	37	c.250C>T	CCDS13671.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.525947	0.27299	.	.	ENSG00000183844	ENST00000357985;ENST00000398652;ENST00000398646	T;T;T	0.57752	0.5;0.38;0.45	4.68	3.8	0.43715	.	0.499358	0.19352	N	0.116376	T	0.62134	0.2403	L	0.60455	1.87	0.09310	N	1	D;D;D	0.89917	1.0;0.996;0.987	D;P;P	0.62955	0.909;0.795;0.502	T	0.51474	-0.8701	10	0.41790	T	0.15	.	8.5871	0.33664	0.0:0.8923:0.0:0.1077	.	59;68;45	B7Z7I9;A8MTF8;P58499	.;.;FAM3B_HUMAN	C	45;84;68	ENSP00000350673:R45C;ENSP00000381646:R84C;ENSP00000381641:R68C	ENSP00000350673:R45C	R	+	1	0	FAM3B	41616833	0.006000	0.16342	0.005000	0.12908	0.018000	0.09664	1.266000	0.33039	0.958000	0.37956	0.655000	0.94253	CGC		0.602	FAM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195142.1	NM_058186		36	74	0	0	0	1	0	36	74				
ESPNP	284729	broad.mit.edu	37	1	17023110	17023110	+	RNA	SNP	G	G	A	rs11260887|rs201639447	byFrequency	TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr1:17023110G>A	ENST00000492551.1	-	0	1753					NR_026567.1				espin pseudogene																		GTTGAGCAGCGGCTGAAACCC	0.687													g|||	1622	0.323882	0.1233	0.3703	5008	,	,		35506	0.4792		0.3429	False		,,,				2504	0.3824					ENST00000492551.1																			0																																																			0							g.chr1:17023110G>A	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17023110G>A								NR_026567.1						0	1753	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.687	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			4	31	0	0	0	1	0	4	31				
CBLN2	147381	broad.mit.edu	37	18	70205466	70205466	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr18:70205466A>T	ENST00000269503.4	-	5	1393	c.620T>A	c.(619-621)cTc>cAc	p.L207H	CBLN2_ENST00000585159.1_Missense_Mutation_p.L207H|CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000581073.1_Missense_Mutation_p.L93H|CBLN2_ENST00000584764.1_Missense_Mutation_p.L91H	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	207	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GCCCCCCATGAGGTTGCCTCT	0.532																																						ENST00000269503.4																			0				endometrium(2)|lung(15)	17						c.(619-621)cTc>cAc		cerebellin 2 precursor							106.0	103.0	104.0					18																	70205466		2203	4300	6503	SO:0001583	missense	147381					integral to membrane		g.chr18:70205466A>T	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.620T>A	18.37:g.70205466A>T	ENSP00000269503:p.Leu207His					CBLN2_ENST00000581073.1_Missense_Mutation_p.L93H|CBLN2_ENST00000584764.1_Missense_Mutation_p.L91H|CBLN2_ENST00000585159.1_Missense_Mutation_p.L207H|CBLN2_ENST00000583651.1_5'UTR	p.L207H	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN			5	1393	-		Esophageal squamous(42;0.131)	207			C1q.		Q53Z56	Missense_Mutation	SNP	ENST00000269503.4	37	c.620T>A	CCDS11999.1	.	.	.	.	.	.	.	.	.	.	A	14.84	2.654141	0.47362	.	.	ENSG00000141668	ENST00000269503	T	0.76968	-1.06	5.66	5.66	0.87406	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.000000	0.64402	D	0.000001	D	0.86628	0.5978	M	0.63843	1.955	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.87879	0.2676	10	0.87932	D	0	-22.8756	16.2026	0.82095	1.0:0.0:0.0:0.0	.	207	Q8IUK8	CBLN2_HUMAN	H	207	ENSP00000269503:L207H	ENSP00000269503:L207H	L	-	2	0	CBLN2	68356446	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.279000	0.95777	2.285000	0.76669	0.533000	0.62120	CTC		0.532	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1	NM_182511		93	107	0	0	0	1	0	93	107				
NDST4	64579	broad.mit.edu	37	4	115898356	115898356	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr4:115898356C>G	ENST00000264363.2	-	3	1731	c.1053G>C	c.(1051-1053)aaG>aaC	p.K351N		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	351	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGTGGTAAAACTTCCCTGAAA	0.343																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1051-1053)aaG>aaC		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							92.0	97.0	95.0					4																	115898356		2203	4300	6503	SO:0001583	missense	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115898356C>G	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1053G>C	4.37:g.115898356C>G	ENSP00000264363:p.Lys351Asn						p.K351N	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	3	1731	-		Ovarian(17;0.156)	351			Heparan sulfate N-deacetylase 4.		Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	37	c.1053G>C	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702486	0.68501	.	.	ENSG00000138653	ENST00000264363	T	0.40476	1.03	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.67813	0.2933	M	0.90759	3.145	0.53688	D	0.99997	D	0.60575	0.988	D	0.71656	0.974	T	0.73248	-0.4043	10	0.72032	D	0.01	.	10.2831	0.43552	0.0:0.8501:0.0:0.1499	.	351	Q9H3R1	NDST4_HUMAN	N	351	ENSP00000264363:K351N	ENSP00000264363:K351N	K	-	3	2	NDST4	116117805	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.532000	0.45659	2.783000	0.95769	0.655000	0.94253	AAG		0.343	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		78	141	0	0	0	1	0	78	141				
TDRD7	23424	broad.mit.edu	37	9	100190781	100190781	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr9:100190781C>T	ENST00000355295.4	+	2	329	c.34C>T	c.(34-36)Cga>Tga	p.R12*	TDRD7_ENST00000422139.2_Intron	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	12	HTH OST-type 1. {ECO:0000255|PROSITE- ProRule:PRU00975}.				germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				AAAGATGCTACGAGCTGTTCT	0.438																																						ENST00000355295.4																			0				endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(34-36)Cga>Tga		tudor domain containing 7							100.0	96.0	97.0					9																	100190781		2203	4300	6503	SO:0001587	stop_gained	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100190781C>T	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.34C>T	9.37:g.100190781C>T	ENSP00000347444:p.Arg12*					TDRD7_ENST00000422139.2_Intron	p.R12*	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN			2	329	+		Acute lymphoblastic leukemia(62;0.158)	12			Lotus/OST-HTH 1.		A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Nonsense_Mutation	SNP	ENST00000355295.4	37	c.34C>T	CCDS6725.1	.	.	.	.	.	.	.	.	.	.	C	38	7.157886	0.98103	.	.	ENSG00000196116	ENST00000355295	.	.	.	4.75	3.84	0.44239	.	0.062607	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.5378	12.9444	0.58364	0.1632:0.8368:0.0:0.0	.	.	.	.	X	12	.	ENSP00000347444:R12X	R	+	1	2	TDRD7	99230602	0.984000	0.35163	0.985000	0.45067	0.989000	0.77384	2.661000	0.46758	1.277000	0.44412	0.591000	0.81541	CGA		0.438	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		32	61	0	0	0	1	0	32	61				
BCRP7	100133163	broad.mit.edu	37	22	18844766	18844766	+	3'UTR	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844766G>A																												ENST00000412938.1:c.*3013G>A	22.37:g.18844766G>A														0	3016	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.557	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			9	34	0	0	0	1	0	9	34				
PRMT8	56341	broad.mit.edu	37	12	3692311	3692311	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr12:3692311G>A	ENST00000382622.3	+	8	1306	c.916G>A	c.(916-918)Gcc>Acc	p.A306T	PRMT8_ENST00000452611.2_Missense_Mutation_p.A297T|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	306	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.A306T(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CTACGTCCACGCCCTGGTCAC	0.498																																						ENST00000382622.3																			1	Substitution - Missense(1)	p.A306T(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(916-918)Gcc>Acc		protein arginine methyltransferase 8							96.0	77.0	84.0					12																	3692311		2203	4300	6503	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3692311G>A	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.916G>A	12.37:g.3692311G>A	ENSP00000372067:p.Ala306Thr					PRMT8_ENST00000452611.2_Missense_Mutation_p.A297T|PRMT8_ENST00000261252.4_3'UTR	p.A306T	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		8	1306	+			306					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.916G>A	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692116	0.88735	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.78595	-1.19;-1.19	5.55	5.55	0.83447	.	0.047145	0.85682	D	0.000000	D	0.90469	0.7015	H	0.95850	3.73	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.57425	0.82;0.67	D	0.93312	0.6685	10	0.87932	D	0	.	17.0578	0.86539	0.0:0.0:1.0:0.0	.	297;306	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	T	297;306	ENSP00000414507:A297T;ENSP00000372067:A306T	ENSP00000372067:A306T	A	+	1	0	PRMT8	3562572	1.000000	0.71417	0.996000	0.52242	0.520000	0.34377	9.869000	0.99810	2.625000	0.88918	0.650000	0.86243	GCC		0.498	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		11	54	0	0	0	1	0	11	54				
HCFC1	3054	broad.mit.edu	37	X	153236222	153236222	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chrX:153236222C>A	ENST00000310441.7	-	1	1036	c.70G>T	c.(70-72)Ggc>Tgc	p.G24C	TMEM187_ENST00000369982.4_5'Flank|HCFC1_ENST00000369984.4_Missense_Mutation_p.G24C|HCFC1-AS1_ENST00000438219.1_RNA|HCFC1_ENST00000354233.3_Missense_Mutation_p.G24C	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	24					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCGACCAGCCCACCACTCGC	0.682																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(70-72)Ggc>Tgc		host cell factor C1 (VP16-accessory protein)							23.0	22.0	23.0					X																	153236222		1897	4088	5985	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153236222C>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.70G>T	X.37:g.153236222C>A	ENSP00000309555:p.Gly24Cys					HCFC1_ENST00000354233.3_Missense_Mutation_p.G24C|HCFC1_ENST00000369984.4_Missense_Mutation_p.G24C	p.G24C	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			1	1036	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		24					Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.70G>T	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320275	0.81469	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03124	4.04;4.04;4.1	4.02	4.02	0.46733	.	0.000000	0.85682	D	0.000000	T	0.09862	0.0242	L	0.29908	0.895	0.58432	D	0.99999	D	0.71674	0.998	D	0.70935	0.971	T	0.13150	-1.0520	10	0.87932	D	0	.	14.2175	0.65802	0.0:1.0:0.0:0.0	.	24	P51610	HCFC1_HUMAN	C	24	ENSP00000309555:G24C;ENSP00000359001:G24C;ENSP00000346174:G24C	ENSP00000309555:G24C	G	-	1	0	HCFC1	152889416	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	5.257000	0.65473	1.840000	0.53500	0.436000	0.28706	GGC		0.682	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		11	20	1	0	1.08611e-07	1	1.14229e-07	11	20				
ERC1	23085	broad.mit.edu	37	12	1137520	1137520	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr12:1137520A>G	ENST00000397203.2	+	2	857	c.451A>G	c.(451-453)Atc>Gtc	p.I151V	ERC1_ENST00000589028.1_Missense_Mutation_p.I151V|ERC1_ENST00000355446.5_Missense_Mutation_p.I151V|ERC1_ENST00000543086.3_Missense_Mutation_p.I151V|ERC1_ENST00000360905.4_Missense_Mutation_p.I151V|ERC1_ENST00000546231.2_Missense_Mutation_p.I151V			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	151					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AGATAACACAATCATGGATCT	0.458																																						ENST00000397203.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(451-453)Atc>Gtc		ELKS/RAB6-interacting/CAST family member 1							137.0	120.0	126.0					12																	1137520		2203	4300	6503	SO:0001583	missense	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1137520A>G	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.451A>G	12.37:g.1137520A>G	ENSP00000380386:p.Ile151Val					ERC1_ENST00000355446.5_Missense_Mutation_p.I151V|ERC1_ENST00000546231.2_Missense_Mutation_p.I151V|ERC1_ENST00000360905.4_Missense_Mutation_p.I151V|ERC1_ENST00000543086.3_Missense_Mutation_p.I151V|ERC1_ENST00000589028.1_Missense_Mutation_p.I151V	p.I151V			Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		2	857	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		151					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.451A>G	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	A	17.86	3.493051	0.64186	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394	D;D;D;D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.81226	0.4778	N	0.24115	0.695	0.52501	D	0.999957	B;B;B	0.26081	0.114;0.141;0.029	B;B;B	0.24394	0.053;0.049;0.028	T	0.77027	-0.2740	10	0.12103	T	0.63	-15.9127	15.8861	0.79251	1.0:0.0:0.0:0.0	.	151;151;151	Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;RB6I2_HUMAN	V	151	ENSP00000340054:I151V;ENSP00000380386:I151V;ENSP00000438546:I151V;ENSP00000445336:I151V;ENSP00000442976:I151V;ENSP00000442739:I151V;ENSP00000347621:I151V;ENSP00000354158:I151V;ENSP00000410064:I151V	ENSP00000299183:I151V	I	+	1	0	ERC1	1007781	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.246000	0.95438	2.156000	0.67533	0.533000	0.62120	ATC		0.458	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		8	169	0	0	0	1	0	8	169				
ADCK3	56997	broad.mit.edu	37	1	227152916	227152916	+	Silent	SNP	C	C	T	rs370659820		TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr1:227152916C>T	ENST00000366779.1	+	8	3164	c.393C>T	c.(391-393)ccC>ccT	p.P131P	ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000433743.2_5'Flank|ADCK3_ENST00000366778.1_Silent_p.P79P|ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000366777.3_Silent_p.P131P			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	131					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CCGGGTTCCCCGGCCAGGCCT	0.652																																						ENST00000366779.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						c.(391-393)ccC>ccT		aarF domain containing kinase 3		C		1,4405		0,1,2202	26.0	30.0	29.0		393	-10.8	0.0	1		29	0,8600		0,0,4300	no	coding-synonymous	ADCK3	NM_020247.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		131/648	227152916	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227152916C>T	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.393C>T	1.37:g.227152916C>T						ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366778.1_Silent_p.P79P|ADCK3_ENST00000366775.1_5'UTR|ADCK3_ENST00000366777.3_Silent_p.P131P|ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000366776.1_Silent_p.P56P	p.P131P			Q8NI60	ADCK3_HUMAN			8	3164	+			131					Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Silent	SNP	ENST00000366779.1	37	c.393C>T	CCDS1557.1																																																																																				0.652	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		16	26	0	0	0	1	0	16	26				
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731																																						ENST00000375299.3																			8	Substitution - coding silent(8)	p.L91L(8)	lung(2)|prostate(2)|kidney(2)|central_nervous_system(2)	autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(271-273)Ctg>Ttg		UPF3 regulator of nonsense transcripts homolog A (yeast)							4.0	4.0	4.0					13																	115047559		1902	3804	5706	SO:0001819	synonymous_variant	65110				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chr13:115047559C>T	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.271C>T	13.37:g.115047559C>T						UPF3A_ENST00000351487.5_Silent_p.L91L	p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)	2	327	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	91			Required for interaction with UPF2.		A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Silent	SNP	ENST00000375299.3	37	c.271C>T	CCDS9543.1																																																																																				0.731	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2			3	6	0	0	0	1	0	3	6				
TANC2	26115	broad.mit.edu	37	17	61482567	61482567	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr17:61482567G>A	ENST00000424789.2	+	18	3198	c.3194G>A	c.(3193-3195)cGc>cAc	p.R1065H	AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.R1065H|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1065					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CAGCCAAACCGCCGAGGAGCA	0.617																																						ENST00000424789.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						c.(3193-3195)cGc>cAc		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2							19.0	21.0	21.0					17																	61482567		2009	4159	6168	SO:0001583	missense	26115						binding	g.chr17:61482567G>A	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.3194G>A	17.37:g.61482567G>A	ENSP00000387593:p.Arg1065His					AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.R1065H|RP11-269G24.3_ENST00000583552.1_RNA	p.R1065H	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN			18	3198	+			1065					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.3194G>A	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	G	35	5.432927	0.96150	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.15952	2.38;2.38	5.33	5.33	0.75918	Ankyrin repeat-containing domain (3);	0.050353	0.85682	D	0.000000	T	0.36303	0.0962	L	0.45422	1.42	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.975;0.993	T	0.02567	-1.1140	10	0.48119	T	0.1	.	19.0198	0.92908	0.0:0.0:1.0:0.0	.	1065;1065	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	H	1065	ENSP00000374171:R1065H;ENSP00000387593:R1065H	ENSP00000374171:R1065H	R	+	2	0	TANC2	58836299	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.951000	0.87819	2.507000	0.84556	0.655000	0.94253	CGC		0.617	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			4	30	0	0	0	1	0	4	30				
OR2T33	391195	broad.mit.edu	37	1	248437112	248437112	+	Frame_Shift_Del	DEL	T	T	-	rs372045862		TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr1:248437112delT	ENST00000318021.2	-	1	26	c.5delA	c.(4-6)gagfs	p.E2fs		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTTCTCATCTCCATAATTTC	0.428																																						ENST00000318021.2																			0				NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67						c.(4-6)ggfs		olfactory receptor, family 2, subfamily T, member 33							45.0	47.0	46.0					1																	248437112		2145	4249	6394	SO:0001589	frameshift_variant	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248437112delT		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.5delA	1.37:g.248437112delT	ENSP00000324687:p.Glu2fs						p.E2fs	NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	26	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		2					B2RNN0	Frame_Shift_Del	DEL	ENST00000318021.2	37	c.5delA	CCDS31109.1																																																																																				0.428	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		8	155						8	155	---	---	---	---
TRGC2	6967	broad.mit.edu	37	7	38284886	38284887	+	RNA	DEL	GT	GT	-	rs377514954|rs73692143	byFrequency	TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr7:38284886_38284887delGT	ENST00000436911.2	-	0	330							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										ATTTGTCAAGgtgtgtgtgtgt	0.391																																						ENST00000436911.2																			0																																																			0							g.chr7:38284886_38284887delGT	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38284896_38284897delGT														0	330	-									RNA	DEL	ENST00000436911.2	37																																																																																						0.391	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		9	214						9	214	---	---	---	---
STAG3L2	442582	broad.mit.edu	37	7	74300804	74300804	+	RNA	DEL	A	A	-			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr7:74300804delA	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CTTCATACTTAAAAAAAAAAA	0.458																																						ENST00000423186.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5																																														0					nucleus	binding	g.chr7:74300804delA			7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"""stromal antigen 3-like 2"""				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74300804delA										P0CL84	ST3L2_HUMAN			0	499	-								A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	DEL	ENST00000423186.1	37																																																																																						0.458	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000343523.2	NM_001025202		5	7						5	7	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55587198	55587200	+	In_Frame_Del	DEL	GGC	GGC	-	rs12246234		TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr10:55587198_55587200delGGC	ENST00000320301.6	-	32	4714_4716	c.4320_4322delGCC	c.(4318-4323)ccgcct>cct	p.1440_1441PP>P	PCDH15_ENST00000395433.1_In_Frame_Del_p.1415_1416PP>P|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395430.1_In_Frame_Del_p.1437_1438PP>P|PCDH15_ENST00000395438.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_ENST00000437009.1_In_Frame_Del_p.1369_1370PP>P|PCDH15_ENST00000409834.1_In_Frame_Del_p.1051_1052PP>P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_In_Frame_Del_p.1447_1448PP>P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_In_Frame_Del_p.1442_1443PP>P|PCDH15_ENST00000373965.2_In_Frame_Del_p.1447_1448PP>P|PCDH15_ENST00000361849.3_In_Frame_Del_p.1440_1441PP>P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_In_Frame_Del_p.1400_1401PP>P	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1440	Poly-Pro.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCTggcggaggcggcggcggcg	0.571										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4339-4344)cct>cc		protocadherin-related 15																																				SO:0001651	inframe_deletion	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55587198_55587200delGGC	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4320_4322delGCC	10.37:g.55587207_55587209delGGC	ENSP00000322604:p.Pro1443del	HNSCC(58;0.16)				PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del	p.PP1449del	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			33	4735_4737	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1442					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	In_Frame_Del	DEL	ENST00000320301.6	37	c.4341_4343delGCC	CCDS7248.1																																																																																				0.571	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		7	145						7	145	---	---	---	---
FAM101A	144347	broad.mit.edu	37	12	124719475	124719483	+	Intron	DEL	CACCACCAT	CACCACCAT	-	rs144673601		TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr12:124719475_124719483delCACCACCAT	ENST00000545615.1	+	4	391							Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A											endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		tcaccaccaccaccaccatcaccaccatc	0.464																																						ENST00000540762.1																			0																																																	SO:0001627	intron_variant	0							g.chr12:124719475_124719483delCACCACCAT		CCDS9258.1	12q24.31	2012-11-30			ENSG00000178882	ENSG00000178882			27051	protein-coding gene	gene with protein product		615927				12477932	Standard	NM_181709		Approved	FLJ44614	uc001ugd.2	Q6ZTI6	OTTHUMG00000168609	ENST00000545615.1:c.392-608CACCACCAT>-	12.37:g.124719484_124719492delCACCACCAT														0	444	+								A5D8T5	RNA	DEL	ENST00000545615.1	37																																																																																						0.464	FAM101A-006	KNOWN	mRNA_end_NF|basic	processed_transcript	protein_coding	OTTHUMT00000471484.1	NM_181709		3	4						3	4	---	---	---	---
LRRC75A	388341	broad.mit.edu	37	17	16344167	16344167	+	IGR	DEL	A	A	-	rs112317984|rs555182592	byFrequency	TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr17:16344167delA	ENST00000409083.3	-	0	2656				C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000391079.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000384229.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA	NM_207387.3	NP_997270.2														lung(1)	1						actccatctcaaaaaaaaaaa	0.413																																						ENST00000475953.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:16344167delA																													17.37:g.16344167delA						C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000478103.2_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA		NR_027667.1						0	483	+									RNA	DEL	ENST00000409083.3	37		CCDS11178.2																																																																																				0.413	FAM211A-001	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130461.2			5	8						5	8	---	---	---	---
P2RY11	5032	broad.mit.edu	37	19	10224393	10224395	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr19:10224393_10224395delTGG	ENST00000321826.4	+	2	288_290	c.104_106delTGG	c.(103-108)ctggtg>ctg	p.V37del	PPAN-P2RY11_ENST00000428358.1_In_Frame_Del_p.W477del|P2RY11_ENST00000471843.1_3'UTR|PPAN_ENST00000556468.1_In_Frame_Del_p.V457del|PPAN-P2RY11_ENST00000393796.4_In_Frame_Del_p.V457del	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	37					activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			TGGCCCATACTGGTGGTTGAGTT	0.631											OREG0025230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000428358.1																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(1426-1428)del																																						SO:0001651	inframe_deletion	0				RNA splicing	nucleolus	protein binding	g.chr19:10224393_10224395delTGG	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.104_106delTGG	19.37:g.10224396_10224398delTGG	ENSP00000323872:p.Val37del		OREG0025230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	663	P2RY11_ENST00000471843.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_In_Frame_Del_p.LV455del|P2RY11_ENST00000321826.4_In_Frame_Del_p.LV35del|PPAN_ENST00000556468.1_In_Frame_Del_p.LV455del	p.W477del	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		13	1598_1600	+			0					B2R8X9|O43190|Q9BYU4|Q9H170	In_Frame_Del	DEL	ENST00000321826.4	37	c.1426_1428delTGG	CCDS12226.1																																																																																				0.631	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		14	84						14	84	---	---	---	---
MIR3687-2	103504728	broad.mit.edu	37	21	9825838	9825839	+	RNA	INS	-	-	GCG	rs372061766|rs369177681|rs563875271	byFrequency	TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr21:9825838_9825839insGCG	ENST00000577708.1	+	0	0				MIR3648_ENST00000581792.1_RNA	NR_037458.1																						cggccgcgactgcggcggcggt	0.842																																						ENST00000581792.1																			0																																																			0							g.chr21:9825838_9825839insGCG																													21.37:g.9825845_9825847dupGCG								NR_037421.1						0	7_8	+									RNA	INS	ENST00000577708.1	37																																																																																						0.842	MIR3687-201	KNOWN	basic	miRNA	miRNA				4	2						4	2	---	---	---	---
C21orf91	54149	broad.mit.edu	37	21	19190530	19190530	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr21:19190530delA	ENST00000400558.3	-	2	196	c.106delT	c.(106-108)tgtfs	p.C36fs	C21orf91_ENST00000493464.1_5'UTR|C21orf91_ENST00000284881.4_Frame_Shift_Del_p.C36fs|C21orf91_ENST00000400559.3_Frame_Shift_Del_p.C36fs	NM_001100421.1	NP_001093891.1			chromosome 21 open reading frame 91											endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		AGCTCAAAACAAATGTGGCAG	0.353																																						ENST00000284881.4																			0				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						c.(106-108)gtfs		chromosome 21 open reading frame 91							181.0	170.0	173.0					21																	19190530		1871	4122	5993	SO:0001589	frameshift_variant	54149							g.chr21:19190530delA	AF239726	CCDS42907.1, CCDS42908.1, CCDS42909.1	21q21.1	2011-12-12	2003-07-22		ENSG00000154642	ENSG00000154642			16459	protein-coding gene	gene with protein product	"""cold sore susceptibility gene 1"", ""early undifferentiated retina and lens"""		"""chromosome 21 open reading frame 38"""	C21orf38, C21orf14		22039568	Standard	NM_001100421		Approved	YG81, EURL, CSSG1	uc002yko.4	Q9NYK6	OTTHUMG00000074509	ENST00000400558.3:c.106delT	21.37:g.19190530delA	ENSP00000383403:p.Cys36fs					C21orf91_ENST00000400558.3_Frame_Shift_Del_p.C36fs|C21orf91_ENST00000400559.3_Frame_Shift_Del_p.C36fs|C21orf91_ENST00000493464.1_5'UTR	p.C36fs	NM_001100420.1|NM_017447.3	NP_001093890.1|NP_059143.3	Q9NYK6	EURL_HUMAN		Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)	2	196	-			36						Frame_Shift_Del	DEL	ENST00000400558.3	37	c.106delT	CCDS42909.1																																																																																				0.353	C21orf91-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000158214.1	NM_017447		56	122						56	122	---	---	---	---
LA16c-23H5.4	0	broad.mit.edu	37	22	16419352	16419352	+	RNA	DEL	T	T	-			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr22:16419352delT	ENST00000444162.1	+	0	279																											GAATCGACGATTTTTTTTTTG	0.398																																						ENST00000444162.1																			0																																																			0							g.chr22:16419352delT																													22.37:g.16419352delT														0	279	+									RNA	DEL	ENST00000444162.1	37																																																																																						0.398	LA16c-23H5.4-004	KNOWN	basic	antisense	antisense	OTTHUMT00000074929.2			3	6						3	6	---	---	---	---
