#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ACLY	47	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40054059	40054059	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr17:40054059C>A	ENST00000352035.2	-	13	1502	c.1372G>T	c.(1372-1374)Gag>Tag	p.E458*	ACLY_ENST00000590151.1_Nonsense_Mutation_p.E458*|ACLY_ENST00000537919.1_Nonsense_Mutation_p.E197*|ACLY_ENST00000393896.2_Nonsense_Mutation_p.E458*|ACLY_ENST00000353196.1_Nonsense_Mutation_p.E458*	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	458				SES -> YESMVDEV (in Ref. 1; CAA45614). {ECO:0000305}.	ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)	p.E458*(1)	NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GCCCTGGACTCAGAAAAAGAT	0.567																																					Colon(64;807 1396 15971 30971)												1	Substitution - Nonsense(1)	kidney(1)											46.0	44.0	45.0					17																	40054059		2203	4300	6503	SO:0001587	stop_gained	47			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.1372G>T	17.37:g.40054059C>A	ENSP00000253792:p.Glu458*	Somatic		WXS	Illumina HiSeq	Phase_I	B4DIM0|B4E3P0|Q13037|Q9BRL0	Nonsense_Mutation	SNP	ENST00000352035.2	37	CCDS11412.1	.	.	.	.	.	.	.	.	.	.	C	40	8.001964	0.98605	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	19.4741	0.94979	0.0:1.0:0.0:0.0	.	.	.	.	X	458;512;458;197;458	.	ENSP00000253792:E458X	E	-	1	0	ACLY	37307585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.881000	0.75584	2.595000	0.87683	0.655000	0.94253	GAG		0.567	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1		NM_001096	
ACRC	93953	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	70824235	70824235	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chrX:70824235G>A	ENST00000373695.1	+	7	1645	c.1108G>A	c.(1108-1110)Gct>Act	p.A370T	ACRC_ENST00000373696.3_Missense_Mutation_p.A370T			Q96QF7	ACRC_HUMAN	acidic repeat containing	370						nucleus (GO:0005634)		p.A370T(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					ATCTGATGATGCTGGTGAGCA	0.493																																																	1	Substitution - Missense(1)	kidney(1)											67.0	52.0	57.0					X																	70824235		2203	4300	6503	SO:0001583	missense	93953			AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1108G>A	X.37:g.70824235G>A	ENSP00000362799:p.Ala370Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638095	0.29157	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.32515	1.45;1.45	3.42	-0.56	0.11789	.	.	.	.	.	T	0.16599	0.0399	L	0.27053	0.805	0.09310	N	1	B	0.22346	0.068	B	0.15870	0.014	T	0.21827	-1.0234	9	0.33940	T	0.23	.	3.3832	0.07262	0.3893:0.2027:0.408:0.0	.	370	Q96QF7	ACRC_HUMAN	T	370	ENSP00000362800:A370T;ENSP00000362799:A370T	ENSP00000362799:A370T	A	+	1	0	ACRC	70740960	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	0.511000	0.22739	-0.261000	0.09405	-0.191000	0.12829	GCT		0.493	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			
ATF7IP	55729	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	14577910	14577910	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr12:14577910C>T	ENST00000540793.1	+	1	1216	c.1061C>T	c.(1060-1062)aCa>aTa	p.T354I	ATF7IP_ENST00000536444.1_Missense_Mutation_p.T354I|ATF7IP_ENST00000544627.1_Missense_Mutation_p.T362I|ATF7IP_ENST00000543189.1_Missense_Mutation_p.T354I|ATF7IP_ENST00000261168.4_Missense_Mutation_p.T354I|ATF7IP_ENST00000541654.1_3'UTR			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	354	Glu-rich.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.T354I(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						ACTCTAGAAACAGATGATACA	0.338																																																	1	Substitution - Missense(1)	kidney(1)											68.0	76.0	74.0					12																	14577910		2203	4299	6502	SO:0001583	missense	55729			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1061C>T	12.37:g.14577910C>T	ENSP00000444589:p.Thr354Ile	Somatic		WXS	Illumina HiSeq	Phase_I	F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.014804	0.54468	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000396279;ENST00000540793	T;T;T;T;T;T	0.27256	2.07;2.05;2.07;2.07;1.68;2.07	5.55	4.43	0.53597	.	0.310493	0.27397	N	0.019551	T	0.30293	0.0760	L	0.54323	1.7	0.18873	N	0.999987	P;P;P;P;P	0.49358	0.923;0.923;0.465;0.465;0.617	P;P;B;B;B	0.47891	0.56;0.56;0.295;0.295;0.382	T	0.18116	-1.0347	10	0.72032	D	0.01	-3.4365	9.8774	0.41211	0.0:0.8175:0.0:0.1825	.	362;354;354;354;354	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2	.;.;.;MCAF1_HUMAN;.	I	354;354;354;362;354;354	ENSP00000261168:T354I;ENSP00000443179:T354I;ENSP00000445955:T354I;ENSP00000440440:T362I;ENSP00000379575:T354I;ENSP00000444589:T354I	ENSP00000261168:T354I	T	+	2	0	ATF7IP	14469177	0.990000	0.36364	0.965000	0.40720	0.978000	0.69477	0.954000	0.29175	2.753000	0.94483	0.655000	0.94253	ACA		0.338	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1		NM_018179	
BBS10	79738	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	76740157	76740157	+	Silent	SNP	A	A	G			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr12:76740157A>G	ENST00000393262.3	-	2	1691	c.1608T>C	c.(1606-1608)taT>taC	p.Y536Y		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	536					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)	p.Y536Y(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						ATGGTTCATAATAATCAGTTA	0.348									Bardet-Biedl syndrome																																								1	Substitution - coding silent(1)	kidney(1)											134.0	129.0	131.0					12																	76740157		2203	4300	6503	SO:0001819	synonymous_variant	79738	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.1608T>C	12.37:g.76740157A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q96CW2|Q9H5D2	Silent	SNP	ENST00000393262.3	37	CCDS9014.2																																																																																				0.348	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2		NM_024685	
BRDT	676	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	92470105	92470105	+	Silent	SNP	G	G	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr1:92470105G>A	ENST00000362005.3	+	18	2941	c.2523G>A	c.(2521-2523)cgG>cgA	p.R841R	BRDT_ENST00000402388.1_Silent_p.R841R|BRDT_ENST00000394530.3_Silent_p.R795R|BRDT_ENST00000370389.2_Silent_p.R768R|BRDT_ENST00000399546.2_Silent_p.R841R	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	841					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)	p.R841R(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TAAAAGCTCGGACACAGGAAC	0.388																																																	2	Substitution - coding silent(2)	kidney(1)|skin(1)											84.0	92.0	89.0					1																	92470105		2202	4299	6501	SO:0001819	synonymous_variant	676			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.2523G>A	1.37:g.92470105G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Silent	SNP	ENST00000362005.3	37	CCDS735.1																																																																																				0.388	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2		NM_207189	
BRPF3	27154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	36177586	36177586	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr6:36177586T>C	ENST00000357641.6	+	5	2013	c.1760T>C	c.(1759-1761)aTg>aCg	p.M587T	BRPF3_ENST00000339717.7_Missense_Mutation_p.M587T|BRPF3_ENST00000543502.1_Missense_Mutation_p.M587T|BRPF3_ENST00000534694.1_Missense_Mutation_p.M587T|BRPF3_ENST00000534400.1_Missense_Mutation_p.M587T|BRPF3_ENST00000443324.2_Missense_Mutation_p.M587T	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	587					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)	p.M587T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CAGGCTGCCATGGAGCTGGAG	0.498																																																	1	Substitution - Missense(1)	kidney(1)											91.0	82.0	85.0					6																	36177586		2203	4300	6503	SO:0001583	missense	27154			AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.1760T>C	6.37:g.36177586T>C	ENSP00000350267:p.Met587Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	T	13.83	2.355661	0.41700	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324;ENST00000534400;ENST00000394572	T;T;T;T;T;T	0.16897	2.5;2.45;2.44;2.45;2.44;2.31	5.92	5.92	0.95590	Bromodomain (2);	0.089181	0.85682	D	0.000000	T	0.08268	0.0206	L	0.46614	1.455	0.58432	D	0.999999	B;B;P	0.38335	0.156;0.156;0.627	B;B;B	0.29598	0.049;0.049;0.104	T	0.06588	-1.0818	10	0.41790	T	0.15	.	16.3662	0.83325	0.0:0.0:0.0:1.0	.	587;587;587	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	T	587;587;587;587;587;587;1	ENSP00000350267:M587T;ENSP00000345419:M587T;ENSP00000434501:M587T;ENSP00000445352:M587T;ENSP00000387368:M587T;ENSP00000436504:M587T	ENSP00000345419:M587T	M	+	2	0	BRPF3	36285564	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.163000	0.71880	2.274000	0.75844	0.533000	0.62120	ATG		0.498	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3		NM_015695	
BPIFB4	149954	broad.mit.edu;ucsc.edu	37	20	31671267	31671267	+	Silent	SNP	T	T	C			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr20:31671267T>C	ENST00000375483.3	+	3	264	c.264T>C	c.(262-264)ggT>ggC	p.G88G		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	88						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.G49G(1)									ACCAGTATGGTCACATTGAGA	0.507																																																	1	Substitution - coding silent(1)	kidney(1)											94.0	85.0	88.0					20																	31671267		2203	4300	6503	SO:0001819	synonymous_variant	0			AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.264T>C	20.37:g.31671267T>C		Somatic		WXS	Illumina GAIIx	Phase_I	Q5TDX6	Silent	SNP	ENST00000375483.3	37	CCDS13213.2																																																																																				0.507	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5		NM_182519	
C6orf163	206412	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	88074934	88074934	+	Silent	SNP	C	C	T			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr6:88074934C>T	ENST00000388923.4	+	5	1061	c.810C>T	c.(808-810)atC>atT	p.I270I	RP1-102H19.8_ENST00000448282.2_Intron|C6orf163_ENST00000608891.1_3'UTR|C6orf163_ENST00000608326.1_Silent_p.I140I	NM_001010868.2	NP_001010868.2	Q5TEZ5	CF163_HUMAN	chromosome 6 open reading frame 163	270								p.I270I(1)|p.I144I(1)		central_nervous_system(1)|kidney(1)	2						AACTGGGAATCATGACAAATT	0.418																																																	2	Substitution - coding silent(2)	kidney(2)											90.0	87.0	88.0					6																	88074934		692	1591	2283	SO:0001819	synonymous_variant	206412			AK092941	CCDS55042.1	6q15	2012-02-07			ENSG00000203872	ENSG00000203872			21403	protein-coding gene	gene with protein product							Standard	NM_001010868		Approved		uc021zcl.1	Q5TEZ5	OTTHUMG00000015169	ENST00000388923.4:c.810C>T	6.37:g.88074934C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000388923.4	37	CCDS55042.1																																																																																				0.418	C6orf163-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041436.2		NM_001010868	
C9orf89	84270	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	95874559	95874559	+	Missense_Mutation	SNP	T	T	A	rs147126180		TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr9:95874559T>A	ENST00000375464.2	+	5	552	c.424T>A	c.(424-426)Tgc>Agc	p.C142S	C9orf89_ENST00000488630.1_3'UTR	NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89	147					negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	CARD domain binding (GO:0050700)	p.C142S(1)		endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						GCTCCTGTACTGCTATCCGCC	0.672																																																	1	Substitution - Missense(1)	kidney(1)											42.0	33.0	36.0					9																	95874559		2078	4033	6111	SO:0001583	missense	84270			AK057716	CCDS6702.2	9q22.32	2012-03-16			ENSG00000165233	ENSG00000165233			28148	protein-coding gene	gene with protein product	"""Bcl10-interacting protein with CARD"""					12477932	Standard	XM_005252273		Approved	MGC11115, bA370F5.1, BinCARD	uc004atd.3	Q96LW7	OTTHUMG00000020243	ENST00000375464.2:c.424T>A	9.37:g.95874559T>A	ENSP00000364613:p.Cys142Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q5BJH8|Q9BSY2	Missense_Mutation	SNP	ENST00000375464.2	37	CCDS6702.2	.	.	.	.	.	.	.	.	.	.	T	13.66	2.303369	0.40795	.	.	ENSG00000165233	ENST00000375464	.	.	.	4.53	3.28	0.37604	.	2.166600	0.02142	N	0.057227	T	0.68412	0.2998	.	.	.	0.58432	D	0.999994	D	0.61080	0.989	P	0.58266	0.836	T	0.62431	-0.6856	8	0.33141	T	0.24	.	8.5014	0.33161	0.1738:0.0:0.0:0.8261	.	142	Q96LW7-2	.	S	142	.	ENSP00000364613:C142S	C	+	1	0	C9orf89	94914380	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	3.729000	0.54999	1.988000	0.58038	0.459000	0.35465	TGC		0.672	C9orf89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053128.1		NM_032310	
CABIN1	23523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	24432627	24432627	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr22:24432627C>G	ENST00000398319.2	+	3	479	c.94C>G	c.(94-96)Cag>Gag	p.Q32E	CABIN1_ENST00000405822.2_Missense_Mutation_p.Q32E|CABIN1_ENST00000263119.5_Missense_Mutation_p.Q32E	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	32					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.Q32E(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAAGGAGGCTCAGGTACGTAA	0.433																																																	1	Substitution - Missense(1)	kidney(1)											162.0	153.0	156.0					22																	24432627		2203	4300	6503	SO:0001583	missense	23523			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.94C>G	22.37:g.24432627C>G	ENSP00000381364:p.Gln32Glu	Somatic		WXS	Illumina HiSeq	Phase_I	G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240998	0.79912	.	.	ENSG00000099991	ENST00000454754;ENST00000263119;ENST00000405822;ENST00000445422;ENST00000398319;ENST00000536026	T;T;T;T;T	0.66815	0.22;-0.15;-0.23;0.22;-0.15	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.71350	0.3329	L	0.32530	0.975	0.80722	D	1	D;D;B;B	0.69078	0.98;0.997;0.322;0.335	P;P;P;B	0.61800	0.717;0.894;0.551;0.349	T	0.70781	-0.4779	10	0.37606	T	0.19	.	17.3055	0.87194	0.0:1.0:0.0:0.0	.	32;32;32;32	C9J068;F5H5W5;G5E9F3;Q9Y6J0	.;.;.;CABIN_HUMAN	E	32	ENSP00000394209:Q32E;ENSP00000263119:Q32E;ENSP00000384694:Q32E;ENSP00000412389:Q32E;ENSP00000381364:Q32E	ENSP00000263119:Q32E	Q	+	1	0	CABIN1	22762627	1.000000	0.71417	0.998000	0.56505	0.904000	0.53231	7.293000	0.78740	2.416000	0.81992	0.558000	0.71614	CAG		0.433	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2		NM_012295	
CCKBR	887	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6290923	6290923	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr11:6290923C>T	ENST00000334619.2	+	2	369	c.176C>T	c.(175-177)aCt>aTt	p.T59I	CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000525014.1_Missense_Mutation_p.T59I|CCKBR_ENST00000525462.1_Missense_Mutation_p.T59I|CCKBR_ENST00000531712.1_3'UTR	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	59					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)	p.T59I(2)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	ATTAGAATCACTCTTTACGCA	0.527																																																	2	Substitution - Missense(2)	kidney(2)											100.0	89.0	93.0					11																	6290923		2201	4296	6497	SO:0001583	missense	887			D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.176C>T	11.37:g.6290923C>T	ENSP00000335544:p.Thr59Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	C	8.917	0.960125	0.18507	.	.	ENSG00000110148	ENST00000334619;ENST00000525014;ENST00000525462	T;T;T	0.34667	1.35;1.35;1.35	4.61	4.61	0.57282	.	0.187243	0.38436	N	0.001691	T	0.32882	0.0844	L	0.47716	1.5	0.37607	D	0.920783	P;B	0.37548	0.599;0.069	B;B	0.44108	0.441;0.032	T	0.16600	-1.0397	10	0.19590	T	0.45	.	6.8609	0.24066	0.0:0.8124:0.0:0.1876	.	59;59	P32239-2;P32239	.;GASR_HUMAN	I	59	ENSP00000335544:T59I;ENSP00000437001:T59I;ENSP00000435534:T59I	ENSP00000335544:T59I	T	+	2	0	CCKBR	6247499	0.998000	0.40836	0.993000	0.49108	0.874000	0.50279	5.600000	0.67599	2.398000	0.81561	0.563000	0.77884	ACT		0.527	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2		NM_176875	
CLVS1	157807	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	62412012	62412012	+	Splice_Site	SNP	A	A	T			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr8:62412012A>T	ENST00000519846.1	+	7	1449		c.e7-1		CLVS1_ENST00000518858.1_Splice_Site|CLVS1_ENST00000325897.4_Splice_Site|CLVS1_ENST00000518592.1_Splice_Site			Q8IUQ0	CLVS1_HUMAN	clavesin 1						lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.?(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCCTCTTGTTAGATCTCAGTC	0.433																																																	1	Unknown(1)	kidney(1)											115.0	110.0	112.0					8																	62412012		2203	4300	6503	SO:0001630	splice_region_variant	157807			AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.978-1A>T	8.37:g.62412012A>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2R7M5|C8UZT3|Q8NB32	Splice_Site	SNP	ENST00000519846.1	37	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.237247	0.79800	.	.	ENSG00000177182	ENST00000519846;ENST00000518592;ENST00000325897;ENST00000520712	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4138	0.74948	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CLVS1	62574566	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	7.240000	0.78192	2.285000	0.76669	0.528000	0.53228	.		0.433	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1		NM_173519	Intron
COL24A1	255631	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	86362087	86362087	+	Silent	SNP	T	T	G			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr1:86362087T>G	ENST00000370571.2	-	29	3150	c.2784A>C	c.(2782-2784)tcA>tcC	p.S928S	COL24A1_ENST00000436319.1_Silent_p.S928S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	928	Collagen-like 7.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.S928S(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTGGTCCTCTTGATCCCTAGA	0.328																																																	1	Substitution - coding silent(1)	kidney(1)											109.0	102.0	104.0					1																	86362087		1827	4081	5908	SO:0001819	synonymous_variant	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2784A>C	1.37:g.86362087T>G		Somatic		WXS	Illumina HiSeq	Phase_I	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Silent	SNP	ENST00000370571.2	37	CCDS41353.1																																																																																				0.328	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4		NM_152890	
CSRNP1	64651	broad.mit.edu;ucsc.edu	37	3	39185098	39185098	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr3:39185098C>A	ENST00000273153.5	-	5	1395	c.1218G>T	c.(1216-1218)gaG>gaT	p.E406D	CSRNP1_ENST00000514182.1_Missense_Mutation_p.E406D	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	406					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E411delE(2)|p.E406D(1)|p.G404>?(1)		central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CCTCTTCCTCCTCCTCCCCAC	0.607																																																	4	Deletion - In frame(2)|Substitution - Missense(1)|Complex(1)	central_nervous_system(3)|kidney(1)											53.0	55.0	54.0					3																	39185098		2203	4300	6503	SO:0001583	missense	64651			AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"""AXIN1 up-regulated 1"""	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.1218G>T	3.37:g.39185098C>A	ENSP00000273153:p.Glu406Asp	Somatic		WXS	Illumina GAIIx	Phase_I	Q69YY5	Missense_Mutation	SNP	ENST00000273153.5	37	CCDS2682.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.500843	0.26861	.	.	ENSG00000144655	ENST00000273153;ENST00000514182	T;T	0.48836	0.8;0.8	4.36	1.46	0.22682	.	0.842832	0.10144	N	0.710452	T	0.33556	0.0867	L	0.43152	1.355	0.26185	N	0.979661	P	0.36535	0.557	B	0.35971	0.215	T	0.18178	-1.0345	10	0.22109	T	0.4	-7.639	3.6249	0.08109	0.1959:0.5926:0.0:0.2115	.	406	Q96S65	CSRN1_HUMAN	D	406	ENSP00000273153:E406D;ENSP00000422532:E406D	ENSP00000273153:E406D	E	-	3	2	CSRNP1	39160102	1.000000	0.71417	0.977000	0.42913	0.863000	0.49368	0.993000	0.29680	0.546000	0.28920	0.591000	0.81541	GAG		0.607	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254061.1		NM_033027	
CYP1A2	1544	broad.mit.edu	37	15	75047169	75047169	+	Missense_Mutation	SNP	C	C	T	rs28399424	byFrequency	TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr15:75047169C>T	ENST00000343932.4	+	7	1354	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	431			R -> W (in allele CYP1A2*6; not detected when expressed in heterologous system as it may be critical for maintenance of protein tertiary structure; dbSNP:rs28399424). {ECO:0000269|PubMed:11295848, ECO:0000269|PubMed:15469410}.		alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.R431W(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	CCGGCCTGAGCGGTTCCTCAC	0.617													C|||	4	0.000798722	0.0	0.0014	5008	,	,		14832	0.0		0.003	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)						C	TRP/ARG	0,4394		0,0,2197	78.0	78.0	78.0		1291	1.0	1.0	15	dbSNP_125	78	7,8585	6.4+/-24.3	0,7,4289	yes	missense	CYP1A2	NM_000761.3	101	0,7,6486	TT,TC,CC		0.0815,0.0,0.0539	probably-damaging	431/517	75047169	7,12979	2197	4296	6493	SO:0001583	missense	1544			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.1291C>T	15.37:g.75047169C>T	ENSP00000342007:p.Arg431Trp	Somatic		WXS	Illumina GAIIx	Phase_I	Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	CCDS32293.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	C	15.40	2.822095	0.50739	0.0	8.15E-4	ENSG00000140505	ENST00000343932	D	0.94280	-3.39	4.42	1.02	0.19986	.	0.000000	0.85682	D	0.000000	D	0.98232	0.9415	H	0.99800	4.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98285	1.0510	10	0.87932	D	0	.	14.045	0.64700	0.4089:0.5911:0.0:0.0	rs28399424	431	P05177-2	.	W	431	ENSP00000342007:R431W	ENSP00000342007:R431W	R	+	1	2	CYP1A2	72834222	0.997000	0.39634	0.998000	0.56505	0.286000	0.27126	0.566000	0.23593	0.438000	0.26450	0.455000	0.32223	CGG		0.617	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2		NM_000761	
DDX20	11218	hgsc.bcm.edu	37	1	112305403	112305403	+	Splice_Site	SNP	T	T	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr1:112305403T>A	ENST00000369702.4	+	9	1829	c.1209T>A	c.(1207-1209)ttT>ttA	p.F403L	DDX20_ENST00000536167.1_3'UTR|DDX20_ENST00000475700.1_5'UTR	NM_007204.4	NP_009135.4	Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	403	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oogenesis (GO:0048477)|positive regulation of apoptotic process (GO:0043065)|regulation of steroid biosynthetic process (GO:0050810)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|spliceosomal snRNP assembly (GO:0000387)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|transcriptional repressor complex (GO:0017053)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGGCCGTTTTGGTAAAAAAA	0.388																																																	0													88.0	95.0	92.0					1																	112305403		2203	4300	6503	SO:0001630	splice_region_variant	11218			AF106019	CCDS842.1	1p21.1-p13.2	2008-02-05	2003-06-13		ENSG00000064703	ENSG00000064703		"""DEAD-boxes"""	2743	protein-coding gene	gene with protein product		606168	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD"""			10383418	Standard	NM_007204		Approved	DP103, GEMIN3	uc001ebs.3	Q9UHI6	OTTHUMG00000011956	ENST00000369702.4:c.1210+1T>A	1.37:g.112305403T>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DWV7|Q96F72|Q9NVM3|Q9UF59|Q9UIY0|Q9Y659	Missense_Mutation	SNP	ENST00000369702.4	37	CCDS842.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.685759	0.88639	.	.	ENSG00000064703	ENST00000369702	T	0.74842	-0.88	5.64	4.53	0.55603	Helicase, C-terminal (3);	0.099543	0.64402	D	0.000001	T	0.77698	0.4169	L	0.60957	1.885	0.80722	D	1	D	0.62365	0.991	D	0.70487	0.969	T	0.80730	-0.1252	10	0.87932	D	0	-33.1899	10.763	0.46277	0.0:0.0747:0.0:0.9253	.	403	Q9UHI6	DDX20_HUMAN	L	403	ENSP00000358716:F403L	ENSP00000358716:F403L	F	+	3	2	DDX20	112106926	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.107000	0.41844	2.145000	0.66743	0.533000	0.62120	TTT		0.388	DDX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033063.2		NM_007204	Missense_Mutation
DHRS13	147015	broad.mit.edu;ucsc.edu	37	17	27225663	27225663	+	Silent	SNP	C	C	T			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr17:27225663C>T	ENST00000378895.4	-	5	1056	c.930G>A	c.(928-930)ctG>ctA	p.L310L	FLOT2_ENST00000394906.2_5'Flank|FLOT2_ENST00000577789.1_5'Flank|DHRS13_ENST00000426464.2_Silent_p.L229L|FLOT2_ENST00000394908.4_5'Flank|DHRS13_ENST00000581974.1_5'Flank|RP11-20B24.4_ENST00000579187.1_RNA|DHRS13_ENST00000394901.3_Silent_p.L260L|FLOT2_ENST00000585169.1_5'Flank|RP11-20B24.4_ENST00000580603.1_RNA	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	310						extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)	p.L310L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CAAGCCCTGCCAGCCTCTTGC	0.627																																																	1	Substitution - coding silent(1)	kidney(1)											15.0	18.0	17.0					17																	27225663		2203	4300	6503	SO:0001819	synonymous_variant	147015			BC015582	CCDS11246.2	17q11.2	2011-09-14			ENSG00000167536	ENSG00000167536	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	28326	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 5"""					12975309, 19027726	Standard	NM_144683		Approved	MGC23280, SDR7C5	uc002hde.4	Q6UX07	OTTHUMG00000132678	ENST00000378895.4:c.930G>A	17.37:g.27225663C>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q96BH7	Silent	SNP	ENST00000378895.4	37	CCDS11246.2																																																																																				0.627	DHRS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255952.1		NM_144683	
DPP9	91039	hgsc.bcm.edu	37	19	4703896	4703916	+	Splice_Site	DEL	ACCTTGGTGGCAGAAGGTCAG	ACCTTGGTGGCAGAAGGTCAG	-	rs79643531		TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	ACCTTGGTGGCAGAAGGTCAG	ACCTTGGTGGCAGAAGGTCAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr19:4703896_4703916delACCTTGGTGGCAGAAGGTCAG	ENST00000598800.1	-	8	1169_1188	c.664_683delCTGACCTTCTGCCACCAAGGT	c.(664-684)ctgaccttctgccaccaaggt>t	p.LTFCHQG222del	DPP9_ENST00000262960.9_Splice_Site_p.LTFCHQG251del|DPP9_ENST00000597849.1_Splice_Site_p.LTFCHQG251del|DPP9_ENST00000594671.1_Splice_Site_p.LTFCHQG222del			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	222						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GGCTGGCCCCACCTTGGTGGCAGAAGGTCAGCCGCCGCTCC	0.633																																																	0																																										SO:0001630	splice_region_variant	91039			AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.682+1CTGACCTTCTGCCACCAAGGT>-	19.37:g.4703896_4703916delACCTTGGTGGCAGAAGGTCAG		Somatic		WXS	Illumina HiSeq	Phase_I	O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	In_Frame_Del	DEL	ENST00000598800.1	37																																																																																					0.633	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			In_Frame_Del
EEA1	8411	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	93202807	93202807	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr12:93202807T>A	ENST00000322349.8	-	18	2589	c.2325A>T	c.(2323-2325)gaA>gaT	p.E775D		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	775					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.E775D(1)		endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						CCTTCTCCATTTCAAGTTGTT	0.348																																																	1	Substitution - Missense(1)	kidney(1)											127.0	112.0	118.0					12																	93202807		2203	4300	6503	SO:0001583	missense	8411			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.2325A>T	12.37:g.93202807T>A	ENSP00000317955:p.Glu775Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	T	11.47	1.647873	0.29336	.	.	ENSG00000102189	ENST00000322349	T	0.77877	-1.13	5.84	2.1	0.27182	.	0.123355	0.35495	N	0.003178	T	0.55289	0.1911	N	0.19112	0.55	0.33052	D	0.532911	B	0.11235	0.004	B	0.09377	0.004	T	0.45411	-0.9263	10	0.22109	T	0.4	.	2.8	0.05412	0.1189:0.1329:0.1238:0.6245	.	775	Q15075	EEA1_HUMAN	D	775	ENSP00000317955:E775D	ENSP00000317955:E775D	E	-	3	2	EEA1	91726938	0.997000	0.39634	0.749000	0.31150	0.768000	0.43524	1.446000	0.35090	0.420000	0.25954	-0.313000	0.08912	GAA		0.348	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1		NM_003566	
ELP4	26610	broad.mit.edu	37	11	31541630	31541630	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr11:31541630T>C	ENST00000350638.5	+	2	286	c.251T>C	c.(250-252)cTt>cCt	p.L84P	ELP4_ENST00000395934.2_Missense_Mutation_p.L84P|ELP4_ENST00000379163.5_Missense_Mutation_p.L84P	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	84					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)	p.L84P(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					GGAACAGTTCTTCTAATTGGT	0.318																																																	2	Substitution - Missense(2)	kidney(2)											262.0	244.0	249.0					11																	31541630		1836	4092	5928	SO:0001583	missense	26610			AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"""Elongator acetyltransferase complex subunits"""	1171	protein-coding gene	gene with protein product		606985	"""chromosome 11 open reading frame 19"", ""elongation protein 4 homolog (S. cerevisiae)"""	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.251T>C	11.37:g.31541630T>C	ENSP00000298937:p.Leu84Pro	Somatic		WXS	Illumina GAIIx	Phase_I	B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Missense_Mutation	SNP	ENST00000350638.5	37	CCDS7875.2	.	.	.	.	.	.	.	.	.	.	T	16.70	3.196875	0.58126	.	.	ENSG00000109911	ENST00000350638;ENST00000379163;ENST00000395934	T;T;T	0.54479	0.57;0.57;0.57	5.15	4.02	0.46733	.	0.000000	0.85682	D	0.000000	T	0.71333	0.3327	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.77004	0.989;0.974;0.985	T	0.73414	-0.3990	10	0.72032	D	0.01	-1.0173	9.7321	0.40368	0.0:0.0794:0.0:0.9206	.	84;84;84	B4E3W0;G5E9D4;Q96EB1	.;.;ELP4_HUMAN	P	84	ENSP00000298937:L84P;ENSP00000368461:L84P;ENSP00000379267:L84P	ENSP00000298937:L84P	L	+	2	0	ELP4	31498206	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.825000	0.62708	0.913000	0.36797	0.455000	0.32223	CTT		0.318	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1		NM_019040	
FBXO11	80204	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	48050392	48050392	+	Silent	SNP	A	A	T			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr2:48050392A>T	ENST00000403359.3	-	12	1578	c.1506T>A	c.(1504-1506)acT>acA	p.T502T	FBXO11_ENST00000434523.2_5'UTR|FBXO11_ENST00000402508.1_Silent_p.T418T|FBXO11_ENST00000316377.4_Silent_p.T418T	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	502					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)|p.T418T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATATTCCTCCAGTCTGCCCAT	0.383			"""Mis, F, D"""		DLBCL																																			Rec	yes		2	2p16.3	80204	F-box protein 11		L	3	Whole gene deletion(2)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(2)|kidney(1)											129.0	120.0	123.0					2																	48050392		2203	4300	6503	SO:0001819	synonymous_variant	80204			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.1506T>A	2.37:g.48050392A>T		Somatic		WXS	Illumina HiSeq	Phase_I	A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Silent	SNP	ENST00000403359.3	37	CCDS54357.1	.	.	.	.	.	.	.	.	.	.	A	10.06	1.246808	0.22796	.	.	ENSG00000138081	ENST00000493962	.	.	.	5.66	1.7	0.24286	.	.	.	.	.	T	0.43344	0.1243	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25222	-1.0138	4	.	.	.	-0.0077	1.9913	0.03447	0.5905:0.1375:0.1404:0.1316	.	.	.	.	R	294	.	.	W	-	1	0	FBXO11	47903896	0.989000	0.36119	1.000000	0.80357	0.998000	0.95712	0.440000	0.21592	0.400000	0.25396	0.528000	0.53228	TGG		0.383	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3		NM_012167, NM_018693, NM_025133	
FLG2	388698	broad.mit.edu;hgsc.bcm.edu	37	1	152324078	152324078	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr1:152324078C>A	ENST00000388718.5	-	3	6256	c.6184G>T	c.(6184-6186)Gga>Tga	p.G2062*	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2062					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G2062*(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGAGGATCCTGACTCTCCA	0.532																																																	1	Substitution - Nonsense(1)	kidney(1)											533.0	474.0	494.0					1																	152324078		2203	4300	6503	SO:0001587	stop_gained	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.6184G>T	1.37:g.152324078C>A	ENSP00000373370:p.Gly2062*	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H4U1	Nonsense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	44	10.902673	0.99486	.	.	ENSG00000143520	ENST00000388718	.	.	.	4.69	2.83	0.33086	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	7.4312	0.27128	0.0:0.8032:0.0:0.1968	.	.	.	.	X	2062	.	ENSP00000373370:G2062X	G	-	1	0	FLG2	150590702	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.140000	0.10342	0.733000	0.32492	-0.149000	0.13747	GGA		0.532	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5		NM_001014342	
FLG2	388698	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	152326741	152326741	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr1:152326741C>T	ENST00000388718.5	-	3	3593	c.3521G>A	c.(3520-3522)gGt>gAt	p.G1174D	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1174	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G1174D(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGGTTGGACCTGAGCCAGA	0.483																																																	1	Substitution - Missense(1)	kidney(1)											120.0	112.0	114.0					1																	152326741		2203	4300	6503	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3521G>A	1.37:g.152326741C>T	ENSP00000373370:p.Gly1174Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	8.793	0.931145	0.18131	.	.	ENSG00000143520	ENST00000388718	T	0.52983	0.64	3.88	2.96	0.34315	.	.	.	.	.	T	0.19005	0.0456	L	0.57536	1.79	0.09310	N	1	B	0.20368	0.044	B	0.17722	0.019	T	0.25882	-1.0119	9	0.15952	T	0.53	.	7.6892	0.28559	0.0:0.877:0.0:0.123	.	1174	Q5D862	FILA2_HUMAN	D	1174	ENSP00000373370:G1174D	ENSP00000373370:G1174D	G	-	2	0	FLG2	150593365	0.016000	0.18221	0.006000	0.13384	0.011000	0.07611	2.054000	0.41335	0.629000	0.30376	-0.683000	0.03753	GGT		0.483	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5		NM_001014342	
FRMPD4	9758	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	12734955	12734955	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chrX:12734955G>A	ENST00000380682.1	+	15	2883	c.2377G>A	c.(2377-2379)Gac>Aac	p.D793N		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	793					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.D783N(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGAAGGTGATGACAATGAGGA	0.557																																																	1	Substitution - Missense(1)	kidney(1)											210.0	158.0	175.0					X																	12734955		2203	4300	6503	SO:0001583	missense	9758			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2377G>A	X.37:g.12734955G>A	ENSP00000370057:p.Asp793Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A8K0X9|O15032	Missense_Mutation	SNP	ENST00000380682.1	37	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178071	0.78564	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.32515	1.45	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.57636	0.2067	M	0.73598	2.24	0.44966	D	0.997988	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.981	T	0.62618	-0.6816	10	0.87932	D	0	.	18.2456	0.89984	0.0:0.0:1.0:0.0	.	785;793	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	N	793;784;782	ENSP00000370057:D793N	ENSP00000304583:D782N	D	+	1	0	FRMPD4	12644876	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	7.339000	0.79282	2.334000	0.79466	0.600000	0.82982	GAC		0.557	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1		XM_045712	
CMTR2	55783	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	71319019	71319019	+	Missense_Mutation	SNP	C	C	T	rs559412558		TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr16:71319019C>T	ENST00000338099.5	-	3	1141	c.805G>A	c.(805-807)Ggt>Agt	p.G269S	CMTR2_ENST00000434935.2_Missense_Mutation_p.G269S			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	269	Adrift-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00946}.				7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)	p.G269S(1)									AAAGAGCCACCGTTTCCAAGA	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		23031	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											85.0	88.0	87.0					16																	71319019		2198	4300	6498	SO:0001583	missense	55783			BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"""adrift homolog (Drosophila)"""		"""FtsJ methyltransferase domain containing 1"""	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.805G>A	16.37:g.71319019C>T	ENSP00000337512:p.Gly269Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP	ENST00000338099.5	37	CCDS10898.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295735	0.81025	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.61742	0.08;0.08	5.95	5.95	0.96441	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.052881	0.85682	D	0.000000	T	0.80132	0.4567	M	0.88181	2.935	0.80722	D	1	D	0.71674	0.998	D	0.64776	0.929	T	0.82705	-0.0325	10	0.72032	D	0.01	-24.3165	19.3601	0.94434	0.0:1.0:0.0:0.0	.	269	Q8IYT2	FTSJ1_HUMAN	S	269	ENSP00000337512:G269S;ENSP00000411148:G269S	ENSP00000337512:G269S	G	-	1	0	FTSJD1	69876520	1.000000	0.71417	0.972000	0.41901	0.875000	0.50365	5.757000	0.68766	2.826000	0.97356	0.491000	0.48974	GGT		0.388	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2		NM_018348	
GALNT5	11227	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	158165091	158165091	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr2:158165091A>C	ENST00000259056.4	+	9	3018	c.2533A>C	c.(2533-2535)Aat>Cat	p.N845H		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	845	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.N845H(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TCAACAATTTAATTACACCTG	0.418																																																	1	Substitution - Missense(1)	kidney(1)											195.0	219.0	211.0					2																	158165091		2203	4300	6503	SO:0001583	missense	11227			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.2533A>C	2.37:g.158165091A>C	ENSP00000259056:p.Asn845His	Somatic		WXS	Illumina HiSeq	Phase_I	A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.378280	0.82682	.	.	ENSG00000136542	ENST00000259056	T	0.27256	1.68	5.81	5.81	0.92471	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.64402	D	0.000001	T	0.47284	0.1437	L	0.53249	1.67	0.45621	D	0.998559	D	0.89917	1.0	D	0.75484	0.986	T	0.41197	-0.9522	10	0.59425	D	0.04	.	15.8251	0.78698	1.0:0.0:0.0:0.0	.	845	Q7Z7M9	GALT5_HUMAN	H	845	ENSP00000259056:N845H	ENSP00000259056:N845H	N	+	1	0	GALNT5	157873337	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.545000	0.82128	2.216000	0.71823	0.533000	0.62120	AAT		0.418	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2		NM_014568	
GPRIN1	114787	hgsc.bcm.edu	37	5	176026120	176026143	+	In_Frame_Del	DEL	CTCAAAGACCCAGGATCCTCCTTC	CTCAAAGACCCAGGATCCTCCTTC	-	rs3797464|rs200519605|rs386695335|rs550332435|rs77245696|rs142779818|rs371149640|rs199714570|rs373697082|rs201635586	byFrequency	TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	CTCAAAGACCCAGGATCCTCCTTC	CTCAAAGACCCAGGATCCTCCTTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr5:176026120_176026143delCTCAAAGACCCAGGATCCTCCTTC	ENST00000303991.4	-	2	870_893	c.693_716delGAAGGAGGATCCTGGGTCTTTGAG	c.(691-717)aggaaggaggatcctgggtctttgaga>aga	p.231_239RKEDPGSLR>R		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	231				Missing (in Ref. 4; CAD38868). {ECO:0000305}.	neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)		p.L238L(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCCACCTTTCTCAAAGACCCAGGATCCTCCTTCCTCGGTGACA	0.491																																																	1	Substitution - coding silent(1)	lung(1)								863,3329		131,601,1364						1.0	0.0		dbSNP_134	123	1529,6607		196,1137,2735	no	coding	GPRIN1	NM_052899.2		327,1738,4099	A1A1,A1R,RR		18.793,20.5868,19.403				2392,9936				SO:0001651	inframe_deletion	114787			AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.693_716delGAAGGAGGATCCTGGGTCTTTGAG	5.37:g.176026120_176026143delCTCAAAGACCCAGGATCCTCCTTC	ENSP00000305839:p.Arg231_Leu238del	Somatic		WXS	Illumina HiSeq	Phase_I	C9JM70|Q8ND74|Q96PZ4	In_Frame_Del	DEL	ENST00000303991.4	37	CCDS4405.1																																																																																				0.491	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1		NM_052899	
HSPG2	3339	hgsc.bcm.edu	37	1	22199879	22199880	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr1:22199879_22199880insG	ENST00000374695.3	-	30	3860_3861	c.3781_3782insC	c.(3781-3783)cagfs	p.Q1261fs		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1261	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CTGGCATGGCTGGCCCTGGCTG	0.584																																																	0																																										SO:0001589	frameshift_variant	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.3782dupC	1.37:g.22199881_22199881dupG	ENSP00000363827:p.Gln1261fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q16287|Q5SZI3|Q9H3V5	Frame_Shift_Ins	INS	ENST00000374695.3	37	CCDS30625.1																																																																																				0.584	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1		NM_005529	
IGDCC3	9543	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	65628159	65628159	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr15:65628159T>A	ENST00000327987.4	-	3	796	c.545A>T	c.(544-546)gAc>gTc	p.D182V	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	182	Ig-like C2-type 2.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)		p.D182V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTCTCATTGTCCGTGTCAAT	0.592																																																	1	Substitution - Missense(1)	kidney(1)											173.0	162.0	166.0					15																	65628159		2201	4299	6500	SO:0001583	missense	9543			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.545A>T	15.37:g.65628159T>A	ENSP00000332773:p.Asp182Val	Somatic		WXS	Illumina HiSeq	Phase_I	O95215	Missense_Mutation	SNP	ENST00000327987.4	37	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	T	11.35	1.613665	0.28712	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.44881	0.91	5.06	-0.533	0.11887	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.849276	0.10624	N	0.653041	T	0.36303	0.0962	L	0.46614	1.455	0.23820	N	0.996752	B	0.32862	0.387	B	0.38755	0.281	T	0.38950	-0.9637	10	0.54805	T	0.06	-20.4753	6.2049	0.20598	0.0:0.2536:0.131:0.6153	.	182	Q8IVU1	IGDC3_HUMAN	V	182;45	ENSP00000332773:D182V	ENSP00000332773:D182V	D	-	2	0	IGDCC3	63415212	0.000000	0.05858	0.035000	0.18076	0.843000	0.47879	0.606000	0.24194	-0.019000	0.14055	0.533000	0.62120	GAC		0.592	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1		NM_004884	
ITPRIPL2	162073	broad.mit.edu	37	16	19127313	19127313	+	Silent	SNP	C	C	T			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr16:19127313C>T	ENST00000381440.3	+	1	2060	c.1530C>T	c.(1528-1530)taC>taT	p.Y510Y	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	510						integral component of membrane (GO:0016021)		p.Y510Y(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TCCGGGCCTACGGGGGTCCCC	0.677																																																	1	Substitution - coding silent(1)	kidney(1)											41.0	47.0	45.0					16																	19127313		2197	4299	6496	SO:0001819	synonymous_variant	162073				CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"""inositol 1,4,5-triphosphate receptor interacting protein-like 2"""				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.1530C>T	16.37:g.19127313C>T		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000381440.3	37	CCDS32395.1																																																																																				0.677	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435827.3		NM_001034841	
KCNH4	23415	broad.mit.edu	37	17	40315894	40315894	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr17:40315894delC	ENST00000264661.3	-	13	2539	c.2207delG	c.(2206-2208)ggtfs	p.G737fs	KCNH4_ENST00000607371.1_Frame_Shift_Del_p.G737fs	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	737					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCTGGGACCACCCCCAGGCTC	0.706																																					NSCLC(117;707 1703 2300 21308 31858)												0													7.0	9.0	8.0					17																	40315894		2090	4111	6201	SO:0001589	frameshift_variant	23415			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.2207delG	17.37:g.40315894delC	ENSP00000264661:p.Gly737fs	Somatic		WXS	Illumina GAIIx	Phase_I		Frame_Shift_Del	DEL	ENST00000264661.3	37	CCDS11420.1																																																																																				0.706	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2		NM_012285	
KCNU1	157855	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	36790510	36790510	+	Silent	SNP	C	C	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr8:36790510C>A	ENST00000399881.3	+	26	3041	c.3004C>A	c.(3004-3006)Cga>Aga	p.R1002R		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1002					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.R1002R(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGGCTTATACCGAATAATTGA	0.428																																																	2	Substitution - coding silent(2)	kidney(2)											117.0	110.0	112.0					8																	36790510		1859	4106	5965	SO:0001819	synonymous_variant	157855			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.3004C>A	8.37:g.36790510C>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000399881.3	37	CCDS55220.1																																																																																				0.428	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1		NM_001031836	
KLHDC1	122773	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	50206889	50206889	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr14:50206889G>A	ENST00000359332.2	+	11	1060	c.970G>A	c.(970-972)Gcc>Acc	p.A324T	KLHDC1_ENST00000554512.1_3'UTR	NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	324						cytoplasm (GO:0005737)		p.A324T(1)		kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					TGACTTACTTGCCTTGGATAC	0.333																																																	1	Substitution - Missense(1)	kidney(1)											85.0	87.0	86.0					14																	50206889		2203	4299	6502	SO:0001583	missense	122773			AF111806	CCDS9692.1	14q21.3	2007-08-01			ENSG00000197776	ENSG00000197776			19836	protein-coding gene	gene with protein product		611281					Standard	NM_172193		Approved	MST025	uc001www.3	Q8N7A1	OTTHUMG00000140295	ENST00000359332.2:c.970G>A	14.37:g.50206889G>A	ENSP00000352282:p.Ala324Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B3KXD9|Q8WYI1	Missense_Mutation	SNP	ENST00000359332.2	37	CCDS9692.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971287	0.53614	.	.	ENSG00000197776	ENST00000359332;ENST00000557128	T;T	0.66638	-0.22;4.01	5.74	4.6	0.57074	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.333414	0.32563	N	0.005923	T	0.50718	0.1632	L	0.27053	0.805	0.25802	N	0.984496	B;B	0.14438	0.01;0.002	B;B	0.18561	0.022;0.007	T	0.28004	-1.0057	10	0.10902	T	0.67	-1.4404	12.9382	0.58327	0.0:0.0:0.1415:0.8585	.	195;324	G3V3T1;Q8N7A1	.;KLDC1_HUMAN	T	324;195	ENSP00000352282:A324T;ENSP00000451407:A195T	ENSP00000352282:A324T	A	+	1	0	KLHDC1	49276639	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.853000	0.55941	1.010000	0.39314	-0.467000	0.05162	GCC		0.333	KLHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276882.2		NM_172193	
KRT7	3855	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	52629134	52629134	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr12:52629134G>T	ENST00000331817.5	+	2	703	c.520G>T	c.(520-522)Gag>Tag	p.E174*		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	174	Coil 1B.|Rod.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.E174*(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	GGATGTGGTGGAGGACTTCAA	0.627																																																	2	Substitution - Nonsense(2)	kidney(2)											51.0	56.0	55.0					12																	52629134		2203	4300	6503	SO:0001587	stop_gained	3855				CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6445	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 7"", ""cytokeratin 7"", ""sarcolectin"", ""keratin, 55K type II cytoskeletal"""	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.520G>T	12.37:g.52629134G>T	ENSP00000329243:p.Glu174*	Somatic		WXS	Illumina HiSeq	Phase_I	Q92676|Q9BUD8|Q9Y3R7	Nonsense_Mutation	SNP	ENST00000331817.5	37	CCDS8822.1	.	.	.	.	.	.	.	.	.	.	G	37	6.250730	0.97412	.	.	ENSG00000135480	ENST00000331817;ENST00000543899;ENST00000422319;ENST00000551537	.	.	.	4.41	4.41	0.53225	.	0.235594	0.21995	N	0.066082	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.5676	0.87924	0.0:0.0:1.0:0.0	.	.	.	.	X	174;174;150;174	.	ENSP00000329243:E174X	E	+	1	0	KRT7	50915401	1.000000	0.71417	0.913000	0.36048	0.989000	0.77384	9.601000	0.98297	2.447000	0.82792	0.655000	0.94253	GAG		0.627	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1		NM_005556	
LAMA3	3909	hgsc.bcm.edu	37	18	21441744	21441744	+	Silent	SNP	C	C	A	rs202215313	byFrequency	TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr18:21441744C>A	ENST00000313654.9	+	35	4798	c.4557C>A	c.(4555-4557)gtC>gtA	p.V1519V	LAMA3_ENST00000399516.3_Silent_p.V1519V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1519	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CGTCCTGGGTCGCACCCACCT	0.582																																																	0													33.0	38.0	36.0					18																	21441744		2026	4185	6211	SO:0001819	synonymous_variant	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.4557C>A	18.37:g.21441744C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	CCDS42419.1																																																																																				0.582	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3		NM_000227, NM_198129	
LAMA3	3909	broad.mit.edu;ucsc.edu	37	18	21508604	21508604	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr18:21508604T>C	ENST00000313654.9	+	64	8552	c.8311T>C	c.(8311-8313)Tca>Cca	p.S2771P	LAMA3_ENST00000399516.3_Missense_Mutation_p.S2715P|LAMA3_ENST00000269217.6_Missense_Mutation_p.S1162P|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.S1106P	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2771	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.S2771P(1)|p.S1162P(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GCGATCTGCCTCATTCTCCAG	0.438																																																	2	Substitution - Missense(2)	kidney(2)											186.0	159.0	168.0					18																	21508604		2203	4300	6503	SO:0001583	missense	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8311T>C	18.37:g.21508604T>C	ENSP00000324532:p.Ser2771Pro	Somatic		WXS	Illumina GAIIx	Phase_I	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	T	17.07	3.294306	0.60086	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.19669	2.13;2.13;2.13	5.84	4.69	0.59074	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	T	0.40570	0.1122	M	0.69823	2.125	0.33326	D	0.568006	D;D;D;D	0.76494	0.999;0.999;0.983;0.996	D;D;P;P	0.83275	0.994;0.996;0.68;0.849	T	0.55398	-0.8147	9	0.62326	D	0.03	.	5.3017	0.15781	0.1559:0.0826:0.0:0.7615	.	1106;1162;2715;2771	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	P	2771;2715;1162	ENSP00000324532:S2771P;ENSP00000382432:S2715P;ENSP00000269217:S1162P	ENSP00000269217:S1162P	S	+	1	0	LAMA3	19762602	1.000000	0.71417	0.977000	0.42913	0.855000	0.48748	1.922000	0.40045	1.050000	0.40346	0.533000	0.62120	TCA		0.438	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3		NM_000227, NM_198129	
LAMC2	3918	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	183196680	183196680	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr1:183196680A>T	ENST00000264144.4	+	10	1381	c.1316A>T	c.(1315-1317)gAc>gTc	p.D439V	LAMC2_ENST00000493293.1_Missense_Mutation_p.D439V	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	439	Laminin EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)	p.D439V(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GAGAATCCTGACATTGAGTGT	0.527																																																	1	Substitution - Missense(1)	kidney(1)											176.0	176.0	176.0					1																	183196680		2203	4300	6503	SO:0001583	missense	3918			Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.1316A>T	1.37:g.183196680A>T	ENSP00000264144:p.Asp439Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.542207	0.45280	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.17854	2.4;2.25	5.57	4.45	0.53987	.	0.231691	0.37809	N	0.001933	T	0.13586	0.0329	N	0.14661	0.345	0.50171	D	0.999855	P;P;D	0.53885	0.938;0.901;0.963	B;B;P	0.48270	0.368;0.369;0.572	T	0.04041	-1.0982	10	0.87932	D	0	.	8.881	0.35374	0.8373:0.0:0.1627:0.0	.	439;439;439	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	V	439	ENSP00000432063:D439V;ENSP00000264144:D439V	ENSP00000264144:D439V	D	+	2	0	LAMC2	181463303	0.987000	0.35691	0.993000	0.49108	0.912000	0.54170	2.181000	0.42547	0.958000	0.37956	0.523000	0.50628	GAC		0.527	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1		NM_005562	
NRROS	375387	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	196387147	196387147	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr3:196387147C>A	ENST00000328557.4	+	3	836	c.633C>A	c.(631-633)aaC>aaA	p.N211K		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	211					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N211K(1)									GGCACCTCAACCTGGCCTTCA	0.637																																																	1	Substitution - Missense(1)	kidney(1)											55.0	53.0	54.0					3																	196387147		2203	4300	6503	SO:0001583	missense	375387			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.633C>A	3.37:g.196387147C>A	ENSP00000328625:p.Asn211Lys	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000328557.4	37	CCDS3319.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245078	0.59103	.	.	ENSG00000174004	ENST00000328557	T	0.60424	0.19	6.17	4.18	0.49190	.	0.091798	0.64402	D	0.000001	T	0.58694	0.2140	L	0.58925	1.835	0.80722	D	1	P	0.34780	0.468	P	0.44359	0.447	T	0.61744	-0.7000	10	0.59425	D	0.04	.	7.7946	0.29140	0.0:0.6851:0.0:0.3149	.	211	Q86YC3	LRC33_HUMAN	K	211	ENSP00000328625:N211K	ENSP00000328625:N211K	N	+	3	2	LRRC33	197871544	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	2.088000	0.41663	1.632000	0.50472	0.655000	0.94253	AAC		0.637	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1		NM_198565	
MAGEC1	9947	hgsc.bcm.edu	37	X	140993904	140993906	+	In_Frame_Del	DEL	CCC	CCC	-	rs146816736|rs176040	byFrequency	TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	CCC	CCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chrX:140993904_140993906delCCC	ENST00000285879.4	+	4	1000_1002	c.714_716delCCC	c.(712-717)agcccc>agc	p.P239del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	239				P -> S (in Ref. 1 and 2). {ECO:0000305}.				p.P239S(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCCCCTCCTCCTCC	0.478										HNSCC(15;0.026)																																							2	Substitution - Missense(2)	stomach(2)																																								SO:0001651	inframe_deletion	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.714_716delCCC	X.37:g.140993904_140993906delCCC	ENSP00000285879:p.Pro239del	Somatic		WXS	Illumina HiSeq	Phase_I	A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	CCDS35417.1																																																																																				0.478	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1		NM_005462	
MAGI1	9223	hgsc.bcm.edu	37	3	65425579	65425579	+	Silent	SNP	C	C	T	rs148523603	byFrequency	TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr3:65425579C>T	ENST00000497477.2	-	9	1244	c.1245G>A	c.(1243-1245)caG>caA	p.Q415Q	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Silent_p.Q415Q|MAGI1_ENST00000330909.8_Silent_p.Q415Q|MAGI1_ENST00000483466.1_Silent_p.Q415Q			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	415	Poly-Gln.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		gctgctgctgctgctgctgct	0.542											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	c|||	6	0.00119808	0.0	0.0	5008	,	,		15034	0.006		0.0	False		,,,				2504	0.0																0													57.0	58.0	57.0					3																	65425579		2201	4299	6500	SO:0001819	synonymous_variant	9223			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1245G>A	3.37:g.65425579C>T		Somatic	1084	WXS	Illumina HiSeq	Phase_I	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Silent	SNP	ENST00000497477.2	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	2.895	-0.228774	0.06022	.	.	ENSG00000151276	ENST00000460329	.	.	.	3.58	-0.442	0.12253	.	.	.	.	.	T	0.23054	0.0557	.	.	.	0.23689	N	0.997108	.	.	.	.	.	.	T	0.25847	-1.0120	4	.	.	.	.	3.9502	0.09366	0.1579:0.4531:0.0:0.389	.	.	.	.	N	296	.	.	S	-	2	0	MAGI1	65400619	0.107000	0.21998	0.241000	0.24154	0.088000	0.18126	0.156000	0.16382	-0.216000	0.10048	-0.384000	0.06662	AGC		0.542	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2		NM_004742	
MAP7D2	256714	broad.mit.edu	37	X	20074911	20074911	+	Splice_Site	SNP	T	T	C			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chrX:20074911T>C	ENST00000379651.3	-	4	391		c.e4-2		MAP7D2_ENST00000543767.1_5'Flank|MAP7D2_ENST00000443379.3_Splice_Site|MAP7D2_ENST00000452324.3_Splice_Site|MAP7D2_ENST00000379643.5_Splice_Site	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2						microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)		p.?(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CAGCCGTTCCTACACAGTTCG	0.557																																																	2	Unknown(2)	kidney(2)											61.0	47.0	52.0					X																	20074911		2203	4300	6503	SO:0001630	splice_region_variant	256714			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.373-2A>G	X.37:g.20074911T>C		Somatic		WXS	Illumina GAIIx	Phase_I	B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Splice_Site	SNP	ENST00000379651.3	37	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	T	11.63	1.697200	0.30142	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000443379;ENST00000452324;ENST00000330274	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2642	0.66104	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAP7D2	19984832	1.000000	0.71417	0.980000	0.43619	0.190000	0.23558	6.664000	0.74437	1.815000	0.52974	0.412000	0.27726	.		0.557	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1		NM_152780	Intron
MDM1	56890	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	68720392	68720392	+	Intron	SNP	G	G	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr12:68720392G>A	ENST00000303145.7	-	3	585				MDM1_ENST00000545724.1_Intron|MDM1_ENST00000411698.2_Intron|MDM1_ENST00000393543.3_3'UTR|MDM1_ENST00000540418.1_Intron|MDM1_ENST00000430606.2_Silent_p.F181F	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)						retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)		p.F181F(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TGAAACCAATGAAGAATTCTA	0.313																																																	1	Substitution - coding silent(1)	kidney(1)											69.0	74.0	72.0					12																	68720392		2203	4300	6503	SO:0001627	intron_variant	56890			AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.498+44C>T	12.37:g.68720392G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Silent	SNP	ENST00000303145.7	37	CCDS8983.1																																																																																				0.313	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1		NM_020128	
MIR337	442905	broad.mit.edu;hgsc.bcm.edu	37	14	101341381	101341381	+	RNA	SNP	G	G	T			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr14:101341381G>T	ENST00000362281.1	+	0	93				MIR665_ENST00000606903.1_RNA	NR_029889.1				microRNA 337																		CTCCTCGAGGGGTCTCTGCCT	0.612																																																	0													53.0	55.0	55.0					14																	101341381		1566	3581	5147			100126315					14q32.2	2011-09-12		2008-12-18	ENSG00000199151	ENSG00000199151		"""ncRNAs / Micro RNAs"""	31774	non-coding RNA	RNA, micro				MIRN337			Standard	NR_029889		Approved	hsa-mir-337	uc010txi.2				14.37:g.101341381G>T		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP	ENST00000362281.1	37																																																																																					0.612	MIR337-201	KNOWN	basic	miRNA	miRNA			NR_029889	
MORC4	79710	hgsc.bcm.edu;ucsc.edu	37	X	106236587	106236588	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chrX:106236587_106236588insA	ENST00000355610.4	-	3	454_455	c.180_181insT	c.(178-183)aatgctfs	p.A61fs	MORC4_ENST00000535534.1_5'UTR|MORC4_ENST00000255495.7_Frame_Shift_Ins_p.A61fs	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	61						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GGATCTACAGCATTATCTGCAA	0.391																																																	0																																										SO:0001589	frameshift_variant	79710			AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.181dupT	X.37:g.106236588_106236588dupA	ENSP00000347821:p.Ala61fs	Somatic		WXS	Illumina HiSeq	Phase_I	A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Frame_Shift_Ins	INS	ENST00000355610.4	37	CCDS14525.2																																																																																				0.391	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3		NM_024657	
MOV10L1	54456	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	50558941	50558941	+	Nonsense_Mutation	SNP	C	C	T	rs150693045		TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr22:50558941C>T	ENST00000262794.5	+	10	1548	c.1465C>T	c.(1465-1467)Cga>Tga	p.R489*	MOV10L1_ENST00000395858.3_Nonsense_Mutation_p.R489*|MOV10L1_ENST00000540615.1_Nonsense_Mutation_p.R469*|MOV10L1_ENST00000545383.1_Nonsense_Mutation_p.R489*|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	489					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)	p.R469*(1)|p.R489*(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GAACTCAAGACGACAACTTCC	0.348													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21800	0.0		0.0	False		,,,				2504	0.0																2	Substitution - Nonsense(2)	kidney(2)											94.0	96.0	95.0					22																	50558941		2203	4300	6503	SO:0001587	stop_gained	54456			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1465C>T	22.37:g.50558941C>T	ENSP00000262794:p.Arg489*	Somatic		WXS	Illumina HiSeq	Phase_I	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Nonsense_Mutation	SNP	ENST00000262794.5	37	CCDS14084.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	40	8.310930	0.98754	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	.	.	.	5.68	3.48	0.39840	.	0.052015	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.1837	11.5193	0.50541	0.5464:0.4535:0.0:0.0	.	.	.	.	X	489;489;489;469	.	ENSP00000262794:R489X	R	+	1	2	MOV10L1	48901068	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.867000	0.39499	1.372000	0.46190	0.650000	0.86243	CGA		0.348	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2		NM_018995	
NBR1	4077	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	41345527	41345527	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr17:41345527C>A	ENST00000422280.1	+	12	1855	c.1396C>A	c.(1396-1398)Cag>Aag	p.Q466K	NBR1_ENST00000389312.4_Missense_Mutation_p.Q466K|NBR1_ENST00000590996.1_Missense_Mutation_p.Q466K|NBR1_ENST00000341165.6_Missense_Mutation_p.Q466K|NBR1_ENST00000542611.1_Missense_Mutation_p.Q445K|NBR1_ENST00000589872.1_Missense_Mutation_p.Q466K	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	466					macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.Q466K(1)		NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TCACAAAGGCCAGCAATTTGG	0.522																																																	1	Substitution - Missense(1)	kidney(1)											69.0	67.0	67.0					17																	41345527		1906	4117	6023	SO:0001583	missense	4077			X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.1396C>A	17.37:g.41345527C>A	ENSP00000411250:p.Gln466Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	37	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924928	0.52759	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	T;T;T;T	0.43688	1.53;0.94;1.53;1.53	6.17	5.17	0.71159	.	0.109061	0.64402	D	0.000012	T	0.41166	0.1147	L	0.54323	1.7	0.34040	D	0.654856	B;B;B;B	0.28605	0.128;0.128;0.217;0.128	B;B;B;B	0.32465	0.146;0.146;0.138;0.146	T	0.46442	-0.9191	10	0.18710	T	0.47	-4.5933	16.3658	0.83321	0.0:0.6984:0.3016:0.0	.	466;445;466;466	A8K1U0;B7Z5R6;Q14596-2;Q14596	.;.;.;NBR1_HUMAN	K	466;445;466;466;466	ENSP00000411250:Q466K;ENSP00000437545:Q445K;ENSP00000343479:Q466K;ENSP00000373963:Q466K	ENSP00000343479:Q466K	Q	+	1	0	NBR1	38599053	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.411000	0.44600	2.941000	0.99782	0.655000	0.94253	CAG		0.522	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1		NM_005899	
OR52I1	390037	broad.mit.edu;ucsc.edu	37	11	4616186	4616186	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr11:4616186G>C	ENST00000530443.2	+	1	918	c.918G>C	c.(916-918)gaG>gaC	p.E306D	OR52I1_ENST00000450052.2_Missense_Mutation_p.E330D	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E331D(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATTGCTGGAGGGAATATGGA	0.468																																																	1	Substitution - Missense(1)	kidney(1)											116.0	113.0	114.0					11																	4616186		2201	4298	6499	SO:0001583	missense	390037			BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"""GPCR / Class A : Olfactory receptors"""	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.918G>C	11.37:g.4616186G>C	ENSP00000436453:p.Glu306Asp	Somatic		WXS	Illumina GAIIx	Phase_I	Q6IF91	Missense_Mutation	SNP	ENST00000530443.2	37	CCDS59223.1	.	.	.	.	.	.	.	.	.	.	G	7.120	0.577717	0.13686	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	T;T	0.37584	1.19;1.19	4.96	2.03	0.26663	.	0.882556	0.09406	N	0.806501	T	0.15912	0.0383	N	0.11673	0.155	0.22996	N	0.998456	B	0.06786	0.001	B	0.08055	0.003	T	0.37197	-0.9716	9	0.08837	T	0.75	-0.1114	4.4755	0.11733	0.1858:0.0:0.6373:0.1769	.	306	Q8NGK6	O52I1_HUMAN	D	330;306	ENSP00000409094:E330D;ENSP00000436453:E306D	ENSP00000409094:E330D	E	+	3	2	OR52I1	4572762	.	.	0.003000	0.11579	0.011000	0.07611	.	.	0.362000	0.24319	0.555000	0.69702	GAG		0.468	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2		NM_001005169	
P2RY8	286530	hgsc.bcm.edu;ucsc.edu	37	X	1585213	1585213	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chrX:1585213A>G	ENST00000381297.4	-	2	449	c.239T>C	c.(238-240)aTc>aCc	p.I80T	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATGGTAGTAGATTTGGAAAGG	0.572			T	CRLF2	"""B-ALL, Downs associated ALL"""																																			Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	"""purinergic receptor P2Y, G-protein coupled, 8"""		L	0													141.0	128.0	133.0					X																	1585213		2202	4296	6498	SO:0001583	missense	286530			AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.239T>C	X.37:g.1585213A>G	ENSP00000370697:p.Ile80Thr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000381297.4	37	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	a	11.61	1.689169	0.29962	.	.	ENSG00000182162	ENST00000381297	T	0.36340	1.26	2.1	2.1	0.27182	GPCR, rhodopsin-like superfamily (1);	0.071983	0.53938	U	0.000056	T	0.56615	0.1997	M	0.80332	2.49	0.09310	N	0.999994	D	0.76494	0.999	D	0.70935	0.971	T	0.48833	-0.9000	10	0.87932	D	0	.	9.6627	0.39965	1.0:0.0:0.0:0.0	.	80	Q86VZ1	P2RY8_HUMAN	T	80	ENSP00000370697:I80T	ENSP00000370697:I80T	I	-	2	0	P2RY8	1545213	1.000000	0.71417	0.659000	0.29680	0.021000	0.10359	7.120000	0.77153	0.528000	0.28580	0.230000	0.17803	ATC		0.572	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1		NM_178129	
PARD6B	84612	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	49366295	49366295	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr20:49366295A>G	ENST00000371610.2	+	3	632	c.389A>G	c.(388-390)cAt>cGt	p.H130R	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	130	Interaction with PARD3 and CDC42. {ECO:0000250}.				axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction assembly (GO:0007043)|cell-cell junction organization (GO:0045216)|establishment or maintenance of cell polarity (GO:0007163)|protein complex assembly (GO:0006461)|regulation of cell migration (GO:0030334)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.H130R(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						AAAAAGCCACATATAGTCATT	0.403																																																	1	Substitution - Missense(1)	kidney(1)											76.0	74.0	75.0					20																	49366295		2203	4300	6503	SO:0001583	missense	84612			AB044555	CCDS33485.1	20q13.13	2013-08-28	2013-08-28		ENSG00000124171	ENSG00000124171			16245	protein-coding gene	gene with protein product		608975	"""par-6 (partitioning defective 6, C.elegans) homolog beta"", ""par-6 partitioning defective 6 homolog beta (C. elegans)"""			11260256	Standard	NM_032521		Approved	PAR-6B	uc002xvo.3	Q9BYG5	OTTHUMG00000032732	ENST00000371610.2:c.389A>G	20.37:g.49366295A>G	ENSP00000360672:p.His130Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A2A2A7|Q9Y510	Missense_Mutation	SNP	ENST00000371610.2	37	CCDS33485.1	.	.	.	.	.	.	.	.	.	.	A	11.30	1.597328	0.28445	.	.	ENSG00000124171	ENST00000371610	T	0.41400	1.0	5.6	5.6	0.85130	.	0.151580	0.64402	D	0.000014	T	0.36991	0.0987	L	0.43152	1.355	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.11421	-1.0588	10	0.25106	T	0.35	-32.4385	15.7847	0.78294	1.0:0.0:0.0:0.0	.	130	Q9BYG5	PAR6B_HUMAN	R	130	ENSP00000360672:H130R	ENSP00000360672:H130R	H	+	2	0	PARD6B	48799702	0.992000	0.36948	0.650000	0.29550	0.857000	0.48899	3.467000	0.53078	2.135000	0.66039	0.533000	0.62120	CAT		0.403	PARD6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079697.2		NM_032521	
PARP1	142	broad.mit.edu;ucsc.edu	37	1	226561930	226561930	+	Silent	SNP	A	A	G			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr1:226561930A>G	ENST00000366794.5	-	14	2210	c.2067T>C	c.(2065-2067)taT>taC	p.Y689Y		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	689	PARP alpha-helical. {ECO:0000255|PROSITE- ProRule:PRU00398}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.Y689Y(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CAATAACCTCATACTCCACCA	0.433								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																									1	Substitution - coding silent(1)	kidney(1)											181.0	163.0	169.0					1																	226561930		2203	4300	6503	SO:0001819	synonymous_variant	142			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2067T>C	1.37:g.226561930A>G		Somatic		WXS	Illumina GAIIx	Phase_I	B1ANJ4|Q8IUZ9	Silent	SNP	ENST00000366794.5	37	CCDS1554.1																																																																																				0.433	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1		NM_001618	
PGM5	5239	hgsc.bcm.edu	37	9	71094451	71094452	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr9:71094451_71094452insC	ENST00000396396.1	+	8	1506_1507	c.1277_1278insC	c.(1276-1281)ggccgcfs	p.R427fs		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	427					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GCCAAATTTGGCCGCCACTACT	0.52																																																	0																																										SO:0001589	frameshift_variant	5239			L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1279dupC	9.37:g.71094453_71094453dupC	ENSP00000379678:p.Arg427fs	Somatic		WXS	Illumina HiSeq	Phase_I	B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Frame_Shift_Ins	INS	ENST00000396396.1	37	CCDS6622.2																																																																																				0.520	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2		NM_021965	
PHKB	5257	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	47698832	47698832	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr16:47698832A>C	ENST00000323584.5	+	25	2397	c.2373A>C	c.(2371-2373)aaA>aaC	p.K791N	PHKB_ENST00000455779.1_Missense_Mutation_p.K784N|PHKB_ENST00000299167.8_Intron|PHKB_ENST00000566044.1_Intron	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	791	Calmodulin-binding. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.K791N(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TTACCCAGAAATTTTCTTCCT	0.438																																																	2	Substitution - Missense(2)	kidney(2)											79.0	70.0	73.0					16																	47698832		2201	4300	6501	SO:0001583	missense	5257				CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.2373A>C	16.37:g.47698832A>C	ENSP00000313504:p.Lys791Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.173867	0.78452	.	.	ENSG00000102893	ENST00000455779;ENST00000323584	D;D	0.90444	-2.67;-2.67	5.66	5.66	0.87406	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.95711	0.8605	M	0.91406	3.205	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	D	0.95955	0.8957	10	0.59425	D	0.04	-28.5261	11.0019	0.47611	0.9274:0.0:0.0726:0.0	.	791	Q93100	KPBB_HUMAN	N	784;791	ENSP00000414345:K784N;ENSP00000313504:K791N	ENSP00000313504:K791N	K	+	3	2	PHKB	46256333	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.585000	0.67497	2.141000	0.66446	0.533000	0.62120	AAA		0.438	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			
PIGO	84720	broad.mit.edu;ucsc.edu	37	9	35090534	35090534	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr9:35090534T>G	ENST00000378617.3	-	8	3177	c.2783A>C	c.(2782-2784)cAt>cCt	p.H928P	PIGO_ENST00000341666.3_Missense_Mutation_p.H928P|PIGO_ENST00000361778.2_Missense_Mutation_p.H511P|PIGO_ENST00000298004.5_Missense_Mutation_p.H511P	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	928				PFTVPWQAVSAWALMATQTFYSTGHQPVFPAIHWHAAFVGF PEGHGSCTWLPALLVGANTFASHLLFAVGCPLLLLWPFLCE SQGL -> KYLSSDSLKDNSDVSSAPLVFKEVLLLMFLSLT EGPMPHTTRKVFLVSSLLPAIAKQIDPSCWFPGFMERRDKE SSKTPCGNAASS (in Ref. 8; BAB89338). {ECO:0000305}.	C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.H928P(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACAGGAGCCATGACCCTCTGG	0.582																																																	1	Substitution - Missense(1)	kidney(1)											59.0	53.0	55.0					9																	35090534		2203	4300	6503	SO:0001583	missense	84720			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2783A>C	9.37:g.35090534T>G	ENSP00000367880:p.His928Pro	Somatic		WXS	Illumina GAIIx	Phase_I	B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.437060	0.43224	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32	5.4	3.05	0.35203	.	0.256906	0.39274	N	0.001412	T	0.79604	0.4474	L	0.48642	1.525	0.29526	N	0.853112	D;B	0.56968	0.978;0.011	P;B	0.55508	0.777;0.007	T	0.72571	-0.4253	10	0.35671	T	0.21	-1.0849	6.9201	0.24383	0.1334:0.0724:0.0:0.7942	.	511;928	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	P	511;928;928;511	ENSP00000298004:H511P;ENSP00000367880:H928P;ENSP00000339382:H928P;ENSP00000354678:H511P	ENSP00000298004:H511P	H	-	2	0	PIGO	35080534	1.000000	0.71417	0.893000	0.35052	0.994000	0.84299	2.994000	0.49433	0.484000	0.27630	0.533000	0.62120	CAT		0.582	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1		NM_032634	
PLA2G2F	64600	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	20466689	20466689	+	Silent	SNP	C	C	T	rs373042211		TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr1:20466689C>T	ENST00000375102.3	+	2	249	c.147C>T	c.(145-147)acC>acT	p.T49T		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	6					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.T49T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		AGTTCTTCACCGTGGCCATCC	0.592																																																	1	Substitution - coding silent(1)	kidney(1)						C		1,4405	2.1+/-5.4	0,1,2202	156.0	137.0	144.0		147	1.7	0.0	1		144	0,8600		0,0,4300	no	coding-synonymous	PLA2G2F	NM_022819.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		49/212	20466689	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64600			AL158172	CCDS204.2	1p35	2008-09-19			ENSG00000158786	ENSG00000158786	3.1.1.4		30040	protein-coding gene	gene with protein product						11112443	Standard	NM_022819		Approved		uc009vpp.1	Q9BZM2	OTTHUMG00000002704	ENST00000375102.3:c.147C>T	1.37:g.20466689C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5R385|Q8N217|Q9H506	Silent	SNP	ENST00000375102.3	37	CCDS204.2																																																																																				0.592	PLA2G2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007687.1		NM_022819	
PLA2G4C	8605	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	48608631	48608631	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr19:48608631C>A	ENST00000599921.1	-	3	436	c.79G>T	c.(79-81)Gtg>Ttg	p.V27L	PLA2G4C_ENST00000413144.2_Missense_Mutation_p.V27L|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.V27L|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.V37L			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	27	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)	p.V27L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		GCTTTCAGCACATGAAGTCTT	0.527																																																	1	Substitution - Missense(1)	kidney(1)											120.0	129.0	126.0					19																	48608631		2203	4300	6503	SO:0001583	missense	8605			AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.79G>T	19.37:g.48608631C>A	ENSP00000469473:p.Val27Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625302	0.46840	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.06294	3.32;3.32	2.72	2.72	0.32119	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.125117	0.29515	N	0.011931	T	0.18759	0.0450	M	0.81112	2.525	0.09310	N	1	D;D;D	0.59767	0.986;0.968;0.968	P;P;P	0.59288	0.855;0.542;0.779	T	0.01583	-1.1319	10	0.72032	D	0.01	-21.3757	8.9966	0.36057	0.0:1.0:0.0:0.0	.	37;27;27	B4DI40;Q8WWC5;Q9UP65	.;.;PA24C_HUMAN	L	27	ENSP00000346228:V27L;ENSP00000400036:V27L	ENSP00000346228:V27L	V	-	1	0	PLA2G4C	53300443	0.144000	0.22641	0.017000	0.16124	0.059000	0.15707	2.164000	0.42387	1.521000	0.48983	0.205000	0.17691	GTG		0.527	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			
PPARG	5468	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	12434123	12434123	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr3:12434123G>A	ENST00000287820.6	+	4	612	c.491G>A	c.(490-492)cGg>cAg	p.R164Q	PPARG_ENST00000397010.2_Missense_Mutation_p.R136Q|PPARG_ENST00000397012.2_Missense_Mutation_p.R136Q|PPARG_ENST00000539812.1_Missense_Mutation_p.R134Q|PPARG_ENST00000397026.2_Missense_Mutation_p.R142Q|PPARG_ENST00000309576.6_Missense_Mutation_p.R136Q|PPARG_ENST00000397000.1_Missense_Mutation_p.R136Q|PPARG_ENST00000397015.2_Missense_Mutation_p.R136Q	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	164					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R164Q(1)	PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	GGTTTCTTCCGGAGAACAATC	0.388			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""																																	Dom	yes		3	3p25	5468	"""peroxisome proliferative activated receptor, gamma"""	yes	E	1	Substitution - Missense(1)	kidney(1)											82.0	83.0	82.0					3																	12434123		2203	4300	6503	SO:0001583	missense	5468			X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"""Nuclear hormone receptors"""	9236	protein-coding gene	gene with protein product		601487	"""peroxisome proliferative activated receptor, gamma"""			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.491G>A	3.37:g.12434123G>A	ENSP00000287820:p.Arg164Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Missense_Mutation	SNP	ENST00000287820.6	37	CCDS2609.1	.	.	.	.	.	.	.	.	.	.	G	35	5.417321	0.96092	.	.	ENSG00000132170	ENST00000397010;ENST00000309576;ENST00000397015;ENST00000397012;ENST00000397026;ENST00000397000;ENST00000539812;ENST00000287820	D;D;D;D;D;D;D;D	0.97831	-4.56;-4.56;-4.56;-4.56;-4.56;-4.56;-4.56;-4.56	5.57	5.57	0.84162	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99165	0.9711	H	0.94264	3.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	D	0.99211	1.0876	10	0.87932	D	0	.	19.5398	0.95270	0.0:0.0:1.0:0.0	.	164;150;136	P37231;Q4W4C7;E9PFX5	PPARG_HUMAN;.;.	Q	136;136;136;136;142;136;134;164	ENSP00000380205:R136Q;ENSP00000312472:R136Q;ENSP00000380210:R136Q;ENSP00000380207:R136Q;ENSP00000380221:R142Q;ENSP00000380196:R136Q;ENSP00000438940:R134Q;ENSP00000287820:R164Q	ENSP00000287820:R164Q	R	+	2	0	PPARG	12409123	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.830000	0.99415	2.606000	0.88127	0.491000	0.48974	CGG		0.388	PPARG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251979.2		NM_005037	
PRB1	5542	broad.mit.edu	37	12	11506350	11506350	+	Intron	SNP	C	C	T	rs377208399	byFrequency	TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr12:11506350C>T	ENST00000500254.2	-	4	351				PRB1_ENST00000545626.1_Intron|PRB1_ENST00000546254.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1							extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GACCTTGGGGCTGGTTGCCTC	0.602													c|||	193	0.0385383	0.0953	0.0144	5008	,	,		13048	0.0298		0.008	False		,,,				2504	0.0194																0													67.0	68.0	68.0					12																	11506350		1933	4087	6020	SO:0001627	intron_variant	5542				CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.314-26G>A	12.37:g.11506350C>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Silent	SNP	ENST00000500254.2	37	CCDS8642.1																																																																																				0.602	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1		NM_005039	
PRCC	5546	broad.mit.edu;ucsc.edu	37	1	156764508	156764508	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr1:156764508G>T	ENST00000271526.4	+	5	1503	c.1231G>T	c.(1231-1233)Gtg>Ttg	p.V411L	PRCC_ENST00000353233.3_Missense_Mutation_p.V379L	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	411					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.V411L(1)	PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AATCAACTTTGTGGAGATCAA	0.473			T	TFE3	papillary renal																																			Dom	yes		1	1q21.1	5546	papillary renal cell carcinoma (translocation-associated)		E	1	Substitution - Missense(1)	kidney(1)											88.0	87.0	87.0					1																	156764508		2203	4300	6503	SO:0001583	missense	5546			X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.1231G>T	1.37:g.156764508G>T	ENSP00000271526:p.Val411Leu	Somatic		WXS	Illumina GAIIx	Phase_I	A8K1F7|O00665|O00724|Q5SZ06	Missense_Mutation	SNP	ENST00000271526.4	37	CCDS1157.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.73|12.73	2.026363|2.026363	0.35701|0.35701	.|.	.|.	ENSG00000143294|ENSG00000143294	ENST00000454659|ENST00000271526;ENST00000353233;ENST00000368201;ENST00000526188	.|T;T;T	.|0.47177	.|0.85;0.85;0.85	4.83|4.83	3.91|3.91	0.45181|0.45181	.|.	.|0.072620	.|0.56097	.|D	.|0.000033	T|T	0.11537|0.11537	0.0281|0.0281	N|N	0.03608|0.03608	-0.345|-0.345	0.46241|0.46241	D|D	0.998948|0.998948	.|B;B	.|0.17038	.|0.02;0.013	.|B;B	.|0.14023	.|0.01;0.007	T|T	0.05022|0.05022	-1.0911|-1.0911	5|10	.|0.27785	.|T	.|0.31	-7.0457|-7.0457	13.2846|13.2846	0.60235|0.60235	0.0:0.0:0.8403:0.1597|0.0:0.0:0.8403:0.1597	.|.	.|379;411	.|A6NG79;Q92733	.|.;PRCC_HUMAN	F|L	176|411;379;387;118	.|ENSP00000271526:V411L;ENSP00000339300:V379L;ENSP00000434762:V118L	.|ENSP00000271526:V411L	L|V	+|+	3|1	2|0	PRCC|PRCC	155031132|155031132	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.276000|5.276000	0.65580|0.65580	1.241000|1.241000	0.43820|0.43820	0.655000|0.655000	0.94253|0.94253	TTG|GTG		0.473	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2		NM_005973	
PRDM9	56979	broad.mit.edu	37	5	23527472	23527472	+	Missense_Mutation	SNP	G	G	A	rs112666693		TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr5:23527472G>A	ENST00000296682.3	+	11	2457	c.2275G>A	c.(2275-2277)Gat>Aat	p.D759N		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	759					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.D759N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGCTTTCGCGATAAGTCACA	0.572										HNSCC(3;0.000094)																																							1	Substitution - Missense(1)	kidney(1)											63.0	89.0	81.0					5																	23527472		2132	4296	6428	SO:0001583	missense	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2275G>A	5.37:g.23527472G>A	ENSP00000296682:p.Asp759Asn	Somatic		WXS	Illumina GAIIx	Phase_I	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.937166	0.00484	.	.	ENSG00000164256	ENST00000296682	T	0.35605	1.3	2.65	-1.92	0.07618	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11324	0.0276	N	0.02275	-0.615	0.09310	N	1	P	0.35155	0.487	B	0.13407	0.009	T	0.13764	-1.0497	9	0.37606	T	0.19	.	9.3631	0.38208	0.0:0.3794:0.5202:0.1004	.	759	Q9NQV7	PRDM9_HUMAN	N	759	ENSP00000296682:D759N	ENSP00000296682:D759N	D	+	1	0	PRDM9	23563229	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-14.321000	0.00000	-0.886000	0.03966	-4.161000	0.00010	GAT		0.572	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1		NM_020227	
PRKCSH	5589	broad.mit.edu	37	19	11558317	11558317	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr19:11558317C>T	ENST00000589838.1	+	10	913	c.913C>T	c.(913-915)Ccg>Tcg	p.P305S	PRKCSH_ENST00000252455.2_Missense_Mutation_p.P305S|PRKCSH_ENST00000592741.1_Missense_Mutation_p.P305S|PRKCSH_ENST00000591462.1_Missense_Mutation_p.P305S|PRKCSH_ENST00000412601.1_Missense_Mutation_p.P305S|PRKCSH_ENST00000587327.1_Missense_Mutation_p.P305S			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	305					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)	p.P305S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						GGAGGAGCAGCCGCCAGTGCC	0.642																																																	1	Substitution - Missense(1)	kidney(1)											34.0	34.0	34.0					19																	11558317		2202	4299	6501	SO:0001583	missense	5589				CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"""EF-hand domain containing"""	9411	protein-coding gene	gene with protein product		177060	"""polycystic liver disease"""	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.913C>T	19.37:g.11558317C>T	ENSP00000465461:p.Pro305Ser	Somatic		WXS	Illumina GAIIx	Phase_I	A8K318|Q96BU9|Q96D06|Q9P0W9	Missense_Mutation	SNP	ENST00000589838.1	37	CCDS32911.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513767	0.27123	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	T;T	0.71461	-0.57;-0.57	3.67	3.67	0.42095	.	1.062090	0.07455	N	0.899715	T	0.70518	0.3233	M	0.70275	2.135	0.21386	N	0.99971	B;B;B	0.33583	0.418;0.028;0.049	B;B;B	0.32864	0.154;0.01;0.026	T	0.59637	-0.7417	10	0.27082	T	0.32	-8.9098	13.6723	0.62432	0.0:1.0:0.0:0.0	.	305;305;305	E7EQZ9;A8K318;P14314	.;.;GLU2B_HUMAN	S	305	ENSP00000252455:P305S;ENSP00000395616:P305S	ENSP00000252455:P305S	P	+	1	0	PRKCSH	11419317	0.002000	0.14202	0.096000	0.21009	0.126000	0.20510	0.430000	0.21428	2.353000	0.79882	0.491000	0.48974	CCG		0.642	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			
PSD3	23362	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	18413784	18413784	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr8:18413784C>A	ENST00000327040.8	-	15	2965	c.2863G>T	c.(2863-2865)Gac>Tac	p.D955Y	PSD3_ENST00000286485.8_Missense_Mutation_p.D421Y|PSD3_ENST00000523619.1_Missense_Mutation_p.D890Y|PSD3_ENST00000440756.2_Missense_Mutation_p.D957Y|PSD3_ENST00000428502.2_Missense_Mutation_p.D284Y	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	956					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.D421Y(1)|p.D957Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACCTTCTTGTCGGGGGGATAT	0.483																																																	2	Substitution - Missense(2)	kidney(2)											203.0	198.0	200.0					8																	18413784		2203	4300	6503	SO:0001583	missense	23362			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2863G>T	8.37:g.18413784C>A	ENSP00000324127:p.Asp955Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475697	0.63737	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000381690;ENST00000286485;ENST00000428502;ENST00000523619	T;T;T;T	0.20069	2.73;2.74;2.1;2.73	5.49	5.49	0.81192	.	0.110360	0.33346	U	0.005009	T	0.46367	0.1389	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.71674	0.995;0.995;0.983;0.998	D;D;P;D	0.68192	0.955;0.955;0.896;0.956	T	0.42258	-0.9462	10	0.72032	D	0.01	.	16.8703	0.86039	0.0:1.0:0.0:0.0	.	955;956;421;284	E9KL50;Q9NYI0;Q9NYI0-3;B4DKF8	.;PSD3_HUMAN;.;.	Y	955;957;177;421;284;890	ENSP00000324127:D955Y;ENSP00000401704:D957Y;ENSP00000286485:D421Y;ENSP00000430640:D890Y	ENSP00000286485:D421Y	D	-	1	0	PSD3	18458064	1.000000	0.71417	0.954000	0.39281	0.296000	0.27459	7.373000	0.79623	2.590000	0.87494	0.563000	0.77884	GAC		0.483	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1		NM_015310	
RRM1	6240	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	4133183	4133183	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr11:4133183G>A	ENST00000300738.5	+	7	745	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	RRM1_ENST00000423050.2_Missense_Mutation_p.E84K	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	181					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)	p.E181K(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	GATCCACAAAGAAGACATTGA	0.418																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)												1	Substitution - Missense(1)	kidney(1)											114.0	111.0	112.0					11																	4133183		2201	4298	6499	SO:0001583	missense	6240			X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"""ribonucleotide reductase M1 polypeptide"""			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.541G>A	11.37:g.4133183G>A	ENSP00000300738:p.Glu181Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q9UNN2	Missense_Mutation	SNP	ENST00000300738.5	37	CCDS7750.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.764663	0.49574	.	.	ENSG00000167325	ENST00000300738;ENST00000423050;ENST00000536894	T;T	0.32023	1.48;1.47	5.47	5.47	0.80525	Ribonucleotide reductase large subunit, N-terminal (1);Ribonucleoside-diphosphate reductase, alpha subunit (1);Ribonucleotide reductase R1 subunit, N-terminal (1);	0.426226	0.29668	N	0.011507	T	0.36880	0.0983	M	0.82323	2.585	0.80722	D	1	B	0.12630	0.006	B	0.11329	0.006	T	0.23368	-1.0190	10	0.42905	T	0.14	-17.7094	10.341	0.43877	0.1514:0.0:0.8486:0.0	.	181	P23921	RIR1_HUMAN	K	181;84;94	ENSP00000300738:E181K;ENSP00000390539:E84K	ENSP00000300738:E181K	E	+	1	0	RRM1	4089759	0.660000	0.27420	1.000000	0.80357	0.855000	0.48748	1.180000	0.32005	2.724000	0.93272	0.655000	0.94253	GAA		0.418	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1		NM_001033	
SCMH1	22955	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	41608634	41608634	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr1:41608634C>T	ENST00000326197.7	-	5	597	c.298G>A	c.(298-300)Gac>Aac	p.D100N	SCMH1_ENST00000402904.2_Missense_Mutation_p.D100N|SCMH1_ENST00000456518.2_Missense_Mutation_p.D53N|SCMH1_ENST00000372595.1_Missense_Mutation_p.D39N|SCMH1_ENST00000361705.3_Missense_Mutation_p.D53N|SCMH1_ENST00000337495.5_Missense_Mutation_p.D110N|SCMH1_ENST00000397171.2_Missense_Mutation_p.D39N|SCMH1_ENST00000372596.1_Missense_Mutation_p.D39N|SCMH1_ENST00000361191.5_Missense_Mutation_p.D39N|SCMH1_ENST00000397174.2_Missense_Mutation_p.D80N|SCMH1_ENST00000372597.1_Missense_Mutation_p.D53N					sex comb on midleg homolog 1 (Drosophila)									p.D100N(1)|p.D110N(1)|p.D53N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CGCCAGAAGTCATTTTTGTTG	0.532																																																	3	Substitution - Missense(3)	kidney(3)											127.0	130.0	129.0					1																	41608634		2203	4300	6503	SO:0001583	missense	22955			AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.298G>A	1.37:g.41608634C>T	ENSP00000318094:p.Asp100Asn	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000326197.7	37	CCDS30688.1	.	.	.	.	.	.	.	.	.	.	C	35	5.570499	0.96540	.	.	ENSG00000010803	ENST00000361705;ENST00000456518;ENST00000402904;ENST00000397174;ENST00000397171;ENST00000361191;ENST00000372597;ENST00000372596;ENST00000337495;ENST00000372595;ENST00000326197	T;T;T;T;T;T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.81772	0.4893	M	0.90705	3.14	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.995	D	0.84066	0.0377	10	0.72032	D	0.01	.	19.2231	0.93806	0.0:1.0:0.0:0.0	.	53;110;53;100	B4DRQ8;Q96GD3-2;Q96GD3-4;Q96GD3	.;.;.;SCMH1_HUMAN	N	53;53;100;80;39;39;53;39;110;39;100	ENSP00000354996:D53N;ENSP00000403974:D53N;ENSP00000386079:D100N;ENSP00000380359:D80N;ENSP00000380356:D39N;ENSP00000354656:D39N;ENSP00000361678:D53N;ENSP00000361677:D39N;ENSP00000337352:D110N;ENSP00000361676:D39N;ENSP00000318094:D100N	ENSP00000318094:D100N	D	-	1	0	SCMH1	41381221	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.885000	0.99019	0.655000	0.94253	GAC		0.532	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1			
RYR2	6262	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	237886484	237886484	+	Missense_Mutation	SNP	G	G	T	rs183911939		TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr1:237886484G>T	ENST00000366574.2	+	74	10928	c.10611G>T	c.(10609-10611)agG>agT	p.R3537S	RYR2_ENST00000542537.1_Missense_Mutation_p.R3521S|RYR2_ENST00000360064.6_Missense_Mutation_p.R3535S|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3537					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R3535S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TACCAAACAGGACTGATGATA	0.398																																																	1	Substitution - Missense(1)	kidney(1)											185.0	174.0	177.0					1																	237886484		1871	4101	5972	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10611G>T	1.37:g.237886484G>T	ENSP00000355533:p.Arg3537Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258660	0.39896	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96587	-4.06;-4.03;-4.05	5.9	0.265	0.15612	.	0.092070	0.42053	D	0.000765	D	0.92143	0.7509	L	0.39633	1.23	0.54753	D	0.999985	B	0.24368	0.102	B	0.20577	0.03	D	0.85585	0.1242	10	0.45353	T	0.12	-19.2	11.024	0.47734	0.4765:0.0:0.5235:0.0	.	3537	Q92736	RYR2_HUMAN	S	3537;3535;3521;492	ENSP00000355533:R3537S;ENSP00000353174:R3535S;ENSP00000443798:R3521S	ENSP00000353174:R3535S	R	+	3	2	RYR2	235953107	0.016000	0.18221	0.833000	0.33012	0.981000	0.71138	0.147000	0.16202	0.129000	0.18514	0.455000	0.32223	AGG		0.398	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035	
SLC9A7	84679	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	46522060	46522060	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chrX:46522060A>C	ENST00000328306.4	-	6	837	c.812T>G	c.(811-813)tTt>tGt	p.F271C		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	271					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)	p.F271C(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CAATTCATTAAATATCGCCAG	0.413																																					Pancreas(118;454 1696 1930 13865 39976)												1	Substitution - Missense(1)	kidney(1)											93.0	71.0	79.0					X																	46522060		2203	4300	6503	SO:0001583	missense	84679			AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"""Solute carriers"""	17123	protein-coding gene	gene with protein product		300368	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 7"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 7"""			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.812T>G	X.37:g.46522060A>C	ENSP00000330320:p.Phe271Cys	Somatic		WXS	Illumina HiSeq	Phase_I	O75827|Q5JXP9	Missense_Mutation	SNP	ENST00000328306.4	37	CCDS14269.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.226208	0.79576	.	.	ENSG00000065923	ENST00000328306	T	0.18338	2.22	5.09	5.09	0.68999	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.55386	0.1917	H	0.96301	3.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71080	-0.4696	10	0.87932	D	0	.	14.1858	0.65605	1.0:0.0:0.0:0.0	.	42;271	B3KPP8;Q96T83	.;SL9A7_HUMAN	C	271	ENSP00000330320:F271C	ENSP00000330320:F271C	F	-	2	0	SLC9A7	46407004	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.785000	0.91822	1.797000	0.52628	0.486000	0.48141	TTT		0.413	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1		NM_032591	
SMARCA4	6597	broad.mit.edu	37	19	11132522	11132522	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr19:11132522C>A	ENST00000429416.3	+	20	3019	c.2738C>A	c.(2737-2739)cCg>cAg	p.P913Q	SMARCA4_ENST00000444061.3_Missense_Mutation_p.P913Q|SMARCA4_ENST00000589677.1_Missense_Mutation_p.P913Q|SMARCA4_ENST00000590574.1_Missense_Mutation_p.P913Q|SMARCA4_ENST00000450717.3_Missense_Mutation_p.P913Q|SMARCA4_ENST00000358026.2_Missense_Mutation_p.P913Q|SMARCA4_ENST00000413806.3_Missense_Mutation_p.P913Q|SMARCA4_ENST00000344626.4_Missense_Mutation_p.P913Q|SMARCA4_ENST00000541122.2_Missense_Mutation_p.P913Q	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	913	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.P913Q(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ACGGGCACACCGCTGCAGAAC	0.612			"""F, N, Mis"""		NSCLC																																			Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	3	Substitution - Missense(2)|Unknown(1)	kidney(2)|lung(1)											90.0	69.0	76.0					19																	11132522		2202	4300	6502	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2738C>A	19.37:g.11132522C>A	ENSP00000395654:p.Pro913Gln	Somatic		WXS	Illumina GAIIx	Phase_I	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341337	0.41498	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.99766	-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69	4.51	3.48	0.39840	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99889	0.9947	H	0.99815	4.805	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;0.997;1.0;0.999;0.999	D	0.96538	0.9398	10	0.87932	D	0	-34.2807	11.4789	0.50314	0.0:0.9105:0.0:0.0895	.	913;913;913;913;913;133;913;913	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	Q	913;913;977;913;913;913;913;913	ENSP00000395654:P913Q;ENSP00000350720:P913Q;ENSP00000343896:P913Q;ENSP00000445036:P913Q;ENSP00000392837:P913Q;ENSP00000397783:P913Q;ENSP00000414727:P913Q	ENSP00000343896:P913Q	P	+	2	0	SMARCA4	10993522	1.000000	0.71417	0.035000	0.18076	0.001000	0.01503	7.651000	0.83577	1.133000	0.42147	-0.136000	0.14681	CCG		0.612	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2		NM_003072	
TATDN1	83940	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	125535229	125535229	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr8:125535229A>C	ENST00000276692.6	-	2	74	c.37T>G	c.(37-39)Ttg>Gtg	p.L13V	TATDN1_ENST00000521546.1_5'UTR|TATDN1_ENST00000605953.1_Missense_Mutation_p.L13V|TATDN1_ENST00000517678.1_5'UTR|TATDN1_ENST00000519548.1_Intron	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	13					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.L13V(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGGTCAGTCAAGTTGATACCA	0.313																																																	1	Substitution - Missense(1)	kidney(1)											79.0	84.0	82.0					8																	125535229		2203	4300	6503	SO:0001583	missense	83940			AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068	ENST00000276692.6:c.37T>G	8.37:g.125535229A>C	ENSP00000276692:p.Leu13Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	ENST00000276692.6	37	CCDS6351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.35|18.35	3.605081|3.605081	0.66445|0.66445	.|.	.|.	ENSG00000147687|ENSG00000147687	ENST00000519232|ENST00000276692;ENST00000522810	.|.	.|.	.|.	5.66|5.66	1.49|1.49	0.22878|0.22878	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000001|0.000001	T|T	0.81446|0.81446	0.4824|0.4824	H|H	0.94462|0.94462	3.54|3.54	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.991	.|D;D	.|0.78314	.|0.991;0.98	T|T	0.80924|0.80924	-0.1165|-0.1165	6|9	.|0.87932	.|D	.|0	-11.3498|-11.3498	8.8953|8.8953	0.35460|0.35460	0.61:0.0:0.39:0.0|0.61:0.0:0.39:0.0	.|.	.|13;13	.|E5RG17;Q6P1N9	.|.;TATD1_HUMAN	R|V	42|13	.|.	.|ENSP00000276692:L13V	L|L	-|-	2|1	0|2	TATDN1|TATDN1	125604410|125604410	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.253000|1.253000	0.32886|0.32886	0.073000|0.073000	0.16731|0.16731	0.523000|0.523000	0.50628|0.50628	CTT|TTG		0.313	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1		NM_032026	
TCEAL3	85012	broad.mit.edu;hgsc.bcm.edu	37	X	102864047	102864047	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chrX:102864047G>C	ENST00000372628.1	+	3	413	c.55G>C	c.(55-57)Gaa>Caa	p.E19Q	TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000243286.3_Missense_Mutation_p.E19Q|TCEAL3_ENST00000372627.5_Missense_Mutation_p.E19Q			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	19	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.E19Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						gggaaagccagaagatgaagt	0.488																																																	1	Substitution - Missense(1)	kidney(1)											96.0	82.0	87.0					X																	102864047		2203	4297	6500	SO:0001583	missense	85012			BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.55G>C	X.37:g.102864047G>C	ENSP00000361711:p.Glu19Gln	Somatic		WXS	Illumina HiSeq	Phase_I	D3DXA4	Missense_Mutation	SNP	ENST00000372628.1	37	CCDS14511.1	.	.	.	.	.	.	.	.	.	.	G	7.536	0.659697	0.14645	.	.	ENSG00000196507	ENST00000372628;ENST00000372627;ENST00000243286	T;T;T	0.15017	2.46;2.46;2.46	3.76	0.969	0.19686	.	0.415580	0.17807	N	0.161351	T	0.11623	0.0283	L	0.37750	1.13	0.09310	N	1	B	0.21225	0.053	B	0.20384	0.029	T	0.22034	-1.0228	10	0.59425	D	0.04	.	4.4616	0.11669	0.1741:0.1999:0.626:0.0	.	19	Q969E4	TCAL3_HUMAN	Q	19	ENSP00000361711:E19Q;ENSP00000361710:E19Q;ENSP00000243286:E19Q	ENSP00000243286:E19Q	E	+	1	0	TCEAL3	102750703	0.999000	0.42202	0.079000	0.20413	0.311000	0.27955	1.340000	0.33896	0.080000	0.16959	0.538000	0.68166	GAA		0.488	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057737.1		NM_032926	
UBR3	130507	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	170806129	170806130	+	Nonsense_Mutation	DNP	TC	TC	CT			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr2:170806129_170806130TC>CT	ENST00000272793.5	+	23	3149_3150	c.3099_3100TC>CT	c.(3097-3102)gcTCaa>gcCTaa	p.Q1034*	UBR3_ENST00000418381.1_Nonsense_Mutation_p.Q1034*			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1034					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q1034*(1)|p.A1033A(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						CTGGTACAGCTCAAGTTTTCAG	0.322																																																	2	Substitution - Nonsense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001587	stop_gained	130507			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	Exception_encountered	2.37:g.170806129_170806130delinsCT	ENSP00000272793:p.Gln1034*	Somatic		WXS	Illumina HiSeq	Phase_I	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Silent|Nonsense_Mutation	SNP	ENST00000272793.5	37																																																																																					0.322	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2		NM_172070	
LINC00837	100507605	broad.mit.edu	37	10	29079435	29079435	+	lincRNA	SNP	G	G	T			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr10:29079435G>T	ENST00000443246.2	-	0	2672				RP11-478H13.3_ENST00000426922.2_lincRNA	NR_038374.1|NR_038375.1|NR_038376.1				long intergenic non-protein coding RNA 837																		CCACACTAAAGATCATTCTTG	0.463																																																	0																																												0					10p12.1	2012-12-19			ENSG00000235824	ENSG00000235824		"""Long non-coding RNAs"""	27436	non-coding RNA	RNA, long non-coding							Standard	NR_038374		Approved		uc021poo.1		OTTHUMG00000017876		10.37:g.29079435G>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000443246.2	37																																																																																					0.463	LINC00837-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000047376.2		NR_038374	
MIR7162	102466227	broad.mit.edu	37	15	62534752	62534753	+	RNA	INS	-	-	T	rs201421303		TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr15:62534752_62534753insT	ENST00000408214.1	-	0	83																											TTTCCCATAACTTTTTTTTTTT	0.322																																																	0																																												0																															15.37:g.62534763_62534763dupT		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	INS	ENST00000408214.1	37																																																																																					0.322	AC126323.1-201	NOVEL	basic	miRNA	miRNA				
LINC01410	103352539	broad.mit.edu	37	9	66468984	66468984	+	lincRNA	SNP	A	A	C			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr9:66468984A>C	ENST00000424345.1	+	0	2551																											gggaggaaagaaattgagggc	0.418																																																	0																																												0																															9.37:g.66468984A>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000424345.1	37																																																																																					0.418	RP11-262H14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000128851.1			
CFAP44	55779	broad.mit.edu	37	3	113049451	113049451	+	Missense_Mutation	SNP	A	A	C	rs79365690|rs370566069		TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr3:113049451A>C	ENST00000393845.2	-	26	3746	c.3680T>G	c.(3679-3681)gTt>gGt	p.V1227G	WDR52_ENST00000308346.6_5'Flank	NM_001164496.1	NP_001157968.1												p.V375G(5)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TTCCTCAACAACAGCCACTTT	0.408																																																	5	Substitution - Missense(5)	kidney(5)																																								SO:0001583	missense	55779																														ENST00000393845.2:c.3680T>G	3.37:g.113049451A>C	ENSP00000377428:p.Val1227Gly	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000393845.2	37	CCDS54624.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.22|14.22	2.469473|2.469473	0.43839|0.43839	.|.	.|.	ENSG00000206530|ENSG00000206530	ENST00000465636|ENST00000393845	.|T	.|0.11821	.|2.74	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.643254	.|0.11770	.|U	.|0.531195	T|T	0.27349|0.27349	0.0671|0.0671	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|D	.|0.57899	.|0.981	.|P	.|0.56563	.|0.801	T|T	0.01169|0.01169	-1.1430|-1.1430	5|10	.|0.87932	.|D	.|0	-19.8203|-19.8203	8.8767|8.8767	0.35350|0.35350	0.854:0.0:0.146:0.0|0.854:0.0:0.146:0.0	.|.	.|1227	.|Q96MT7-2	.|.	W|G	363|1227	.|ENSP00000377428:V1227G	.|ENSP00000377428:V1227G	C|V	-|-	3|2	2|0	WDR52|WDR52	114532141|114532141	0.947000|0.947000	0.32204|0.32204	0.873000|0.873000	0.34254|0.34254	0.340000|0.340000	0.28889|0.28889	3.859000|3.859000	0.55987|0.55987	2.081000|2.081000	0.62600|0.62600	0.459000|0.459000	0.35465|0.35465	TGT|GTT		0.408	WDR52-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				
XPNPEP3	63929	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	41310325	41310325	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr22:41310325G>A	ENST00000357137.4	+	7	1136	c.1052G>A	c.(1051-1053)gGc>gAc	p.G351D	snoU13_ENST00000459164.1_RNA|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.G328D	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	351					glomerular filtration (GO:0003094)|protein processing (GO:0016485)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metallopeptidase activity (GO:0008237)	p.G351D(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						CCAGTCAATGGCAGGTAGGGC	0.443																																					Ovarian(145;306 1841 7037 21878 30110)												1	Substitution - Missense(1)	kidney(1)											160.0	125.0	137.0					22																	41310325		2203	4300	6503	SO:0001583	missense	63929				CCDS14007.1, CCDS74869.1	22q13.2	2010-07-20			ENSG00000196236	ENSG00000196236			28052	protein-coding gene	gene with protein product		613553				15708373, 20179356	Standard	NM_022098		Approved	APP3, NPHPL1	uc003azh.3	Q9NQH7	OTTHUMG00000151312	ENST00000357137.4:c.1052G>A	22.37:g.41310325G>A	ENSP00000349658:p.Gly351Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B2R9G1|B7Z790|B7Z7B2|Q6I9V9|Q8NDA6|Q9BV27|Q9BVH0	Missense_Mutation	SNP	ENST00000357137.4	37	CCDS14007.1	.	.	.	.	.	.	.	.	.	.	G	34	5.319353	0.95682	.	.	ENSG00000196236	ENST00000357137;ENST00000544094	D;D	0.85088	-1.94;-1.94	5.67	5.67	0.87782	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.94974	0.8374	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95801	0.8833	10	0.87932	D	0	-20.7396	19.7658	0.96340	0.0:0.0:1.0:0.0	.	351	Q9NQH7	XPP3_HUMAN	D	351;328	ENSP00000349658:G351D;ENSP00000441942:G328D	ENSP00000349658:G351D	G	+	2	0	XPNPEP3	39640271	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	9.324000	0.96373	2.661000	0.90470	0.555000	0.69702	GGC		0.443	XPNPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322201.2		NM_022098	
XPO7	23039	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	21827777	21827777	+	Missense_Mutation	SNP	T	T	A	rs576438786		TCGA-B0-5702-01A-11D-1534-10	TCGA-B0-5702-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	780b3f3e-1c49-40de-9131-65c4df9ebba6	abcf3dd7-5e80-4f2d-a516-fb71ad14f79d	g.chr8:21827777T>A	ENST00000252512.9	+	4	482	c.382T>A	c.(382-384)Tat>Aat	p.Y128N	XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000434536.1_Missense_Mutation_p.Y128N|XPO7_ENST00000433566.4_Missense_Mutation_p.Y129N	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	128					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)	p.Y128N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GAAGGATGACTATGTCTTCAG	0.408													T|||	1	0.000199681	0.0	0.0	5008	,	,		17479	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											127.0	125.0	125.0					8																	21827777		1904	4132	6036	SO:0001583	missense	23039			AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.382T>A	8.37:g.21827777T>A	ENSP00000252512:p.Tyr128Asn	Somatic		WXS	Illumina HiSeq	Phase_I	O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	ENST00000252512.9	37	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	T	18.94	3.730646	0.69074	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.23147	1.92;1.92;1.92	5.55	5.55	0.83447	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.29126	0.0724	L	0.50333	1.59	0.80722	D	1	P;B;B	0.46859	0.885;0.004;0.001	P;B;B	0.44990	0.466;0.006;0.006	T	0.02539	-1.1144	10	0.20519	T	0.43	-12.4989	15.649	0.77076	0.0:0.0:0.0:1.0	.	129;128;128	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	N	128;128;129	ENSP00000404853:Y128N;ENSP00000252512:Y128N;ENSP00000410249:Y129N	ENSP00000252512:Y128N	Y	+	1	0	XPO7	21883723	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.214000	0.72200	2.239000	0.73571	0.482000	0.46254	TAT		0.408	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1		NM_015024	
