#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_ORegAnno_bin	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
ABCA4	24	broad.mit.edu	37	1	94514511	94514511	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr1:94514511A>C	ENST00000370225.3	-	18	2742	c.2656T>G	c.(2656-2658)Tgt>Ggt	p.C886G	ABCA4_ENST00000535735.1_Missense_Mutation_p.C812G	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	886					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.C886G(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTGGTTGAACACCCTGCACCA	0.532																																																	1	Substitution - Missense(1)	kidney(1)											112.0	100.0	104.0					1																	94514511		2203	4300	6503	SO:0001583	missense	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2656T>G	1.37:g.94514511A>C	ENSP00000359245:p.Cys886Gly		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	A	14.14	2.445872	0.43429	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.88431	-2.38;-2.38	5.35	5.35	0.76521	.	1.024840	0.07692	N	0.938959	D	0.85102	0.5620	N	0.19112	0.55	0.29481	N	0.856323	D;B	0.69078	0.997;0.001	D;B	0.78314	0.991;0.008	T	0.76160	-0.3061	10	0.21540	T	0.41	.	12.0127	0.53297	1.0:0.0:0.0:0.0	.	812;886	F5H6E5;P78363	.;ABCA4_HUMAN	G	886;812	ENSP00000359245:C886G;ENSP00000437682:C812G	ENSP00000359245:C886G	C	-	1	0	ABCA4	94287099	0.994000	0.37717	0.993000	0.49108	0.975000	0.68041	2.827000	0.48112	2.135000	0.66039	0.533000	0.62120	TGT		0.532	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1		NM_000350	
ACSM5	54988	broad.mit.edu;hgsc.bcm.edu	37	16	20451155	20451155	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr16:20451155T>C	ENST00000331849.4	+	13	1717	c.1570T>C	c.(1570-1572)Tac>Cac	p.Y524H	CTD-2194A8.2_ENST00000574654.1_RNA|CTD-2194A8.2_ENST00000575772.1_RNA	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	524					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.Y524H(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TACTCCAGCCTACTCCTCTCA	0.463																																																	1	Substitution - Missense(1)	kidney(1)											106.0	99.0	102.0					16																	20451155		2203	4299	6502	SO:0001583	missense	54988				CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1570T>C	16.37:g.20451155T>C	ENSP00000327916:p.Tyr524His		Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.330853	0.60853	.	.	ENSG00000183549	ENST00000331849	T	0.49139	0.79	5.01	5.01	0.66863	.	0.118041	0.37483	N	0.002063	T	0.51261	0.1664	N	0.16602	0.42	0.09310	N	1	D	0.67145	0.996	D	0.67231	0.95	T	0.50127	-0.8864	10	0.87932	D	0	-15.386	13.9985	0.64419	0.0:0.0:0.0:1.0	.	524	Q6NUN0	ACSM5_HUMAN	H	524	ENSP00000327916:Y524H	ENSP00000327916:Y524H	Y	+	1	0	ACSM5	20358656	0.809000	0.29036	0.005000	0.12908	0.009000	0.06853	6.402000	0.73260	2.012000	0.59069	0.533000	0.62120	TAC		0.463	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1		NM_017888	
ARHGAP21	57584	broad.mit.edu	37	10	25010766	25010766	+	Splice_Site	SNP	C	C	G			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr10:25010766C>G	ENST00000396432.2	-	2	549	c.63G>C	c.(61-63)gaG>gaC	p.E21D		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	20					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.E20D(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CCGCGCTTACCTCGCAGGCCT	0.597																																																	1	Substitution - Missense(1)	kidney(1)											51.0	42.0	45.0					10																	25010766		2203	4300	6503	SO:0001630	splice_region_variant	57584			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.63+1G>C	10.37:g.25010766C>G			Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279024	0.59758	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000376410;ENST00000446003;ENST00000416305	T;T;T;T	0.47177	2.84;0.88;0.89;0.85	4.02	3.1	0.35709	.	2.191020	0.01758	N	0.030365	T	0.40694	0.1127	L	0.36672	1.1	0.24455	N	0.994469	B;B;B	0.23249	0.082;0.038;0.02	B;B;B	0.18871	0.023;0.016;0.01	T	0.19745	-1.0296	9	.	.	.	.	8.0918	0.30805	0.0:0.8849:0.0:0.1151	.	21;20;20	F8W9U9;Q5T5U2;Q5T5U3	.;.;RHG21_HUMAN	D	21;20;21;21;10	ENSP00000379709:E21D;ENSP00000365592:E21D;ENSP00000405018:E21D;ENSP00000400566:E10D	.	E	-	3	2	ARHGAP21	25050772	1.000000	0.71417	0.078000	0.20375	0.767000	0.43475	3.081000	0.50120	1.018000	0.39521	0.563000	0.77884	GAG		0.597	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4		NM_020824	Missense_Mutation
ZFAND4	93550	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	46121548	46121548	+	Missense_Mutation	SNP	C	C	T	rs149725835		TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr10:46121548C>T	ENST00000344646.5	-	7	1938	c.1723G>A	c.(1723-1725)Ggg>Agg	p.G575R	ZFAND4_ENST00000374366.3_Missense_Mutation_p.G501R|ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374371.2_Intron	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	575							zinc ion binding (GO:0008270)	p.G575R(1)									CTTGTGCTCCCGGCCAGTGAG	0.473																																																	1	Substitution - Missense(1)	kidney(1)						C	ARG/GLY,ARG/GLY	0,4406		0,0,2203	98.0	98.0	98.0		1723,1723	3.9	1.0	10	dbSNP_134	98	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	ANUBL1	NM_001128324.1,NM_174890.2	125,125	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	575/728,575/728	46121548	2,13004	2203	4300	6503	SO:0001583	missense	0			AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.1723G>A	10.37:g.46121548C>T	ENSP00000339484:p.Gly575Arg		A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	ENST00000344646.5	37	CCDS7214.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.900330	0.00517	0.0	2.33E-4	ENSG00000172671	ENST00000344646;ENST00000374366;ENST00000374370	T;T	0.19250	2.16;2.16	5.73	3.88	0.44766	.	0.934347	0.08994	N	0.864059	T	0.05410	0.0143	N	0.00219	-1.825	0.22996	N	0.998459	B	0.02656	0.0	B	0.01281	0.0	T	0.13469	-1.0508	10	0.02654	T	1	-25.1306	14.711	0.69232	0.0:0.2762:0.7238:0.0	.	575	Q86XD8	ANUB1_HUMAN	R	575;501;457	ENSP00000339484:G575R;ENSP00000363486:G501R	ENSP00000339484:G575R	G	-	1	0	ANUBL1	45441554	1.000000	0.71417	0.997000	0.53966	0.123000	0.20343	2.519000	0.45546	0.777000	0.33496	-1.219000	0.01604	GGG		0.473	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1		NM_174890	
ATP6V0A1	535	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40639358	40639358	+	Silent	SNP	C	C	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr17:40639358C>T	ENST00000343619.4	+	10	1119	c.996C>T	c.(994-996)tcC>tcT	p.S332S	ATP6V0A1_ENST00000264649.6_Silent_p.S339S|ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000537728.1_Silent_p.S289S|ATP6V0A1_ENST00000393829.2_Silent_p.S332S|ATP6V0A1_ENST00000585525.1_Silent_p.S289S|ATP6V0A1_ENST00000546249.1_Silent_p.S332S	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	332					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.S332S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		ACCTTGACTCCATCCAGTTTG	0.502																																																	1	Substitution - coding silent(1)	kidney(1)											105.0	93.0	97.0					17																	40639358		2203	4300	6503	SO:0001819	synonymous_variant	535			U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.996C>T	17.37:g.40639358C>T			B7Z3B7|Q8N5G7|Q9NSX0	Silent	SNP	ENST00000343619.4	37	CCDS45684.1																																																																																				0.502	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1		NM_001130020	
BPHL	670	hgsc.bcm.edu;ucsc.edu	37	6	3152714	3152714	+	Intron	SNP	T	T	G			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr6:3152714T>G	ENST00000380379.5	+	7	837				TUBB2A_ENST00000489942.1_5'Flank|BPHL_ENST00000434640.1_Intron|RP1-40E16.11_ENST00000447644.1_RNA|BPHL_ENST00000380368.2_Intron|BPHL_ENST00000464040.1_Intron|BPHL_ENST00000380375.3_Intron	NM_004332.2	NP_004323.2	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)						cellular amino acid metabolic process (GO:0006520)|response to toxic substance (GO:0009636)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TTTTAATTCCTTTTTTAGGCT	0.383																																																	0													125.0	120.0	121.0					6																	3152714		2203	4300	6503	SO:0001627	intron_variant	670			X81372	CCDS4483.2	6p25	2008-08-29	2008-08-29		ENSG00000137274	ENSG00000137274			1094	protein-coding gene	gene with protein product	"""breast epithelial mucin-associated antigen"""	603156		MCNAA		7759552, 9721218, 15832508	Standard	NM_004332		Approved	Bph-rp	uc003mva.3	Q86WA6	OTTHUMG00000014140	ENST00000380379.5:c.789-8T>G	6.37:g.3152714T>G			Q00306|Q13855|Q3KP51	RNA	SNP	ENST00000380379.5	37	CCDS4483.2																																																																																				0.383	BPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039670.5			
GCFC2	6936	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	75893178	75893178	+	Splice_Site	SNP	A	A	G			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr2:75893178A>G	ENST00000321027.3	-	16	2238	c.2105T>C	c.(2104-2106)gTa>gCa	p.V702A	GCFC2_ENST00000409857.3_Splice_Site_p.V664A|MRPL19_ENST00000409374.1_Intron|MRPL19_ENST00000358788.6_Intron|GCFC2_ENST00000541687.1_3'UTR	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	702					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.V702A(1)									ACATGCTGCTACCTGTTAATC	0.358																																																	1	Substitution - Missense(1)	kidney(1)											90.0	93.0	92.0					2																	75893178		2203	4300	6503	SO:0001630	splice_region_variant	0			AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"""GC binding factor"""	189901	"""transcription factor 9 (binds GC-rich sequences)"", ""chromosome 2 open reading frame 3"""	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.2104-1T>C	2.37:g.75893178A>G			A4UHQ8|O95032|Q53TY0|Q6P2F2	Missense_Mutation	SNP	ENST00000321027.3	37	CCDS1961.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.695614	0.48202	.	.	ENSG00000005436	ENST00000321027;ENST00000409857;ENST00000427862	T;T;T	0.60040	1.86;1.85;0.22	5.04	5.04	0.67666	.	0.472038	0.24942	N	0.034377	T	0.52141	0.1716	M	0.64170	1.965	0.80722	D	1	B	0.29766	0.256	B	0.26310	0.068	T	0.50759	-0.8790	9	.	.	.	-7.3753	11.7362	0.51767	1.0:0.0:0.0:0.0	.	702	P16383	GCF_HUMAN	A	702;664;120	ENSP00000318690:V702A;ENSP00000386552:V664A;ENSP00000409340:V120A	.	V	-	2	0	C2orf3	75746686	1.000000	0.71417	0.989000	0.46669	0.805000	0.45488	5.467000	0.66737	2.199000	0.70637	0.528000	0.53228	GTA		0.358	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2		NM_003203	Missense_Mutation
C8orf37	157657	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	96272706	96272706	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr8:96272706G>T	ENST00000286688.5	-	3	309	c.298C>A	c.(298-300)Ctt>Att	p.L100I		NM_177965.3	NP_808880.1	Q96NL8	CH037_HUMAN	chromosome 8 open reading frame 37	100						cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.L100I(1)		kidney(1)|large_intestine(1)|lung(5)	7	Breast(36;3.41e-05)					CTTTTACCAAGGCCTTCAATG	0.328																																																	1	Substitution - Missense(1)	kidney(1)											119.0	109.0	112.0					8																	96272706		2203	4300	6503	SO:0001583	missense	157657			AK055162	CCDS6268.1	8q22.1	2014-01-28			ENSG00000156172	ENSG00000156172			27232	protein-coding gene	gene with protein product		614477				22177090	Standard	NM_177965		Approved	FLJ30600, CORD16, RP64	uc003yho.2	Q96NL8	OTTHUMG00000164663	ENST00000286688.5:c.298C>A	8.37:g.96272706G>T	ENSP00000286688:p.Leu100Ile			Missense_Mutation	SNP	ENST00000286688.5	37	CCDS6268.1	.	.	.	.	.	.	.	.	.	.	G	4.251	0.045642	0.08196	.	.	ENSG00000156172	ENST00000286688	D	0.82711	-1.64	5.71	2.82	0.32997	.	1.230950	0.05477	N	0.554070	T	0.78610	0.4310	M	0.68317	2.08	0.09310	N	1	B	0.30824	0.296	B	0.18561	0.022	T	0.56932	-0.7897	10	0.18710	T	0.47	-23.8706	7.3743	0.26818	0.1502:0.134:0.7158:0.0	.	100	Q96NL8	CH037_HUMAN	I	100	ENSP00000286688:L100I	ENSP00000286688:L100I	L	-	1	0	C8orf37	96341882	0.189000	0.23263	0.157000	0.22605	0.967000	0.64934	0.858000	0.27845	0.285000	0.22329	-0.355000	0.07637	CTT		0.328	C8orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379672.1		NM_177965	
CACNA1C	775	broad.mit.edu	37	12	2794921	2794921	+	Missense_Mutation	SNP	G	G	A	rs200231105	byFrequency	TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr12:2794921G>A	ENST00000347598.4	+	46	5737	c.5737G>A	c.(5737-5739)Gaa>Aaa	p.E1913K	CACNA1C_ENST00000399601.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E1884K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E1885K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E1871K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E1890K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E1882K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E1873K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E1893K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E1900K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E1936K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E1884K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E1900K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E1936K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E1865K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E1873K|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E1884K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E1906K|CACNA1C_ENST00000399655.1_Missense_Mutation_p.E1865K	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1948					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.E1913K(2)|p.E1906K(2)|p.E1978K(2)|p.E1900K(2)|p.E1400K(2)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCAGGATGACGAAAATCGGCA	0.592																																																	10	Substitution - Missense(10)	kidney(5)|endometrium(5)											47.0	48.0	48.0					12																	2794921		2013	4164	6177	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5737G>A	12.37:g.2794921G>A	ENSP00000266376:p.Glu1913Lys		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988512	0.53934	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39	4.26	3.35	0.38373	.	1.675690	0.03914	N	0.282339	T	0.64427	0.2597	L	0.39633	1.23	0.24214	N	0.99546	P;D;P;B;D;P;P;D;B;B;D;P;P;B;P;B;P;B;D;P;P;D;D;P;P	0.76494	0.801;0.999;0.941;0.097;0.999;0.921;0.953;0.961;0.11;0.33;0.978;0.941;0.757;0.432;0.902;0.306;0.757;0.062;0.978;0.588;0.769;0.961;0.961;0.882;0.941	B;P;B;B;D;B;B;P;B;B;P;B;B;B;B;B;B;B;P;B;B;P;P;B;B	0.78314	0.21;0.858;0.304;0.03;0.991;0.308;0.378;0.485;0.04;0.071;0.485;0.304;0.122;0.099;0.114;0.033;0.122;0.024;0.485;0.172;0.172;0.485;0.485;0.172;0.304	T	0.56056	-0.8042	10	0.07030	T	0.85	.	14.0749	0.64885	0.0:0.1521:0.8479:0.0	.	556;1906;1862;1948;1900;1884;1865;1882;1893;1865;1885;1865;1896;1913;1865;1900;1936;1873;1871;1873;1854;1884;1884;1865;1865	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	K	1890;1865;1865;1893;1865;1884;1884;1873;1865;1913;1885;1865;1906;1882;1900;1871;1884;1865;1936;1900;1936;1873;1766	ENSP00000336982:E1890K;ENSP00000382563:E1865K;ENSP00000382552:E1865K;ENSP00000382547:E1893K;ENSP00000382506:E1865K;ENSP00000382530:E1884K;ENSP00000382546:E1884K;ENSP00000382500:E1873K;ENSP00000382549:E1865K;ENSP00000266376:E1913K;ENSP00000382515:E1885K;ENSP00000382510:E1865K;ENSP00000341092:E1906K;ENSP00000382537:E1882K;ENSP00000329877:E1900K;ENSP00000382557:E1871K;ENSP00000385724:E1884K;ENSP00000382512:E1865K;ENSP00000382542:E1936K;ENSP00000382526:E1900K;ENSP00000385896:E1936K;ENSP00000382504:E1873K	ENSP00000323129:E1766K	E	+	1	0	CACNA1C	2665182	1.000000	0.71417	0.943000	0.38184	0.802000	0.45316	5.486000	0.66856	0.981000	0.38548	0.449000	0.29647	GAA		0.592	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1		NM_000719	
CCNB3	85417	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	50053811	50053811	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chrX:50053811G>T	ENST00000376042.1	+	6	2940	c.2642G>T	c.(2641-2643)tGg>tTg	p.W881L	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.W881L			Q8WWL7	CCNB3_HUMAN	cyclin B3	881					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.W881L(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TCAGCTTTGTGGGAGAAGCCC	0.498																																																	2	Substitution - Missense(2)	kidney(2)											53.0	47.0	49.0					X																	50053811		2203	4300	6503	SO:0001583	missense	85417			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.2642G>T	X.37:g.50053811G>T	ENSP00000365210:p.Trp881Leu		B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	7.129	0.579593	0.13686	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.34072	1.38;1.38	3.35	-0.393	0.12438	.	6.410320	0.00166	N	0.000003	T	0.18800	0.0451	N	0.08118	0	0.09310	N	1	B	0.23650	0.089	B	0.12837	0.008	T	0.10870	-1.0611	9	.	.	.	.	5.7531	0.18158	0.5404:0.0:0.4596:0.0	.	881	Q8WWL7	CCNB3_HUMAN	L	881	ENSP00000365210:W881L;ENSP00000276014:W881L	.	W	+	2	0	CCNB3	50070551	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.467000	0.06664	-0.184000	0.10567	-0.912000	0.02778	TGG		0.498	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			
CDH16	1014	broad.mit.edu;ucsc.edu	37	16	66950224	66950224	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr16:66950224C>T	ENST00000299752.4	-	4	431	c.238G>A	c.(238-240)Gtg>Atg	p.V80M	CDH16_ENST00000570262.1_Intron|CDH16_ENST00000394055.3_Missense_Mutation_p.V80M|CDH16_ENST00000568632.1_Missense_Mutation_p.V80M|CDH16_ENST00000565796.1_Missense_Mutation_p.V80M	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	80	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.V80M(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GCCCTGGTCACCAGCAGGAAG	0.627																																																	1	Substitution - Missense(1)	kidney(1)											73.0	64.0	67.0					16																	66950224		2200	4300	6500	SO:0001583	missense	1014			AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.238G>A	16.37:g.66950224C>T	ENSP00000299752:p.Val80Met		B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	ENST00000299752.4	37	CCDS10823.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.800800	0.31869	.	.	ENSG00000166589	ENST00000394055;ENST00000299752	T;T	0.72167	-0.63;-0.63	4.79	3.81	0.43845	Cadherin (4);Cadherin-like (1);	0.229124	0.35772	N	0.002999	T	0.80297	0.4597	M	0.89163	3.01	0.25339	N	0.988966	D;D;D	0.57257	0.974;0.979;0.965	P;P;P	0.54401	0.66;0.751;0.643	T	0.72500	-0.4274	10	0.33141	T	0.24	-5.3808	10.7348	0.46117	0.0:0.8076:0.1924:0.0	.	80;80;80	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	M	80	ENSP00000377619:V80M;ENSP00000299752:V80M	ENSP00000299752:V80M	V	-	1	0	CDH16	65507725	0.055000	0.20627	1.000000	0.80357	0.998000	0.95712	0.717000	0.25851	1.205000	0.43262	0.609000	0.83330	GTG		0.627	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2		NM_004062	
CDON	50937	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	125891274	125891274	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr11:125891274T>A	ENST00000392693.3	-	3	345	c.218A>T	c.(217-219)gAa>gTa	p.E73V	CDON_ENST00000263577.7_Missense_Mutation_p.E73V	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	73	Ig-like C2-type 1.				anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E73V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CTTAACATGTTCCAGGTTTCC	0.453																																																	1	Substitution - Missense(1)	kidney(1)											107.0	101.0	103.0					11																	125891274		2201	4299	6500	SO:0001583	missense	50937			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.218A>T	11.37:g.125891274T>A	ENSP00000376458:p.Glu73Val		O14631	Missense_Mutation	SNP	ENST00000392693.3	37	CCDS58192.1	.	.	.	.	.	.	.	.	.	.	T	10.27	1.304894	0.23736	.	.	ENSG00000064309	ENST00000392693;ENST00000263577;ENST00000531586;ENST00000527967;ENST00000534818	T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58	5.66	4.54	0.55810	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.241657	0.28809	N	0.014064	T	0.25901	0.0631	M	0.67953	2.075	0.09310	N	1	D;P;P	0.55800	0.973;0.754;0.71	P;P;B	0.58391	0.838;0.483;0.351	T	0.12016	-1.0564	10	0.51188	T	0.08	-15.5141	5.6885	0.17817	0.0:0.1433:0.2618:0.5949	.	73;73;73	E9PRD8;Q4KMG0;Q4KMG0-2	.;CDON_HUMAN;.	V	73	ENSP00000376458:E73V;ENSP00000263577:E73V;ENSP00000434212:E73V;ENSP00000436940:E73V;ENSP00000437176:E73V	ENSP00000263577:E73V	E	-	2	0	CDON	125396484	0.545000	0.26449	0.081000	0.20488	0.058000	0.15608	0.716000	0.25836	0.986000	0.38683	0.460000	0.39030	GAA		0.453	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386749.2		NM_016952	
CELSR2	1952	broad.mit.edu;hgsc.bcm.edu	37	1	109794802	109794802	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr1:109794802A>T	ENST00000271332.3	+	1	2162	c.2101A>T	c.(2101-2103)Aat>Tat	p.N701Y		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	701	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.N701Y(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GATTGTGGTGAATGTCACCGA	0.567																																					NSCLC(158;1285 2011 34800 34852 42084)												1	Substitution - Missense(1)	kidney(1)											92.0	84.0	87.0					1																	109794802		2203	4300	6503	SO:0001583	missense	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.2101A>T	1.37:g.109794802A>T	ENSP00000271332:p.Asn701Tyr		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	18.18	3.567147	0.65651	.	.	ENSG00000143126	ENST00000271332	T	0.01767	4.65	4.95	4.95	0.65309	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.05502	0.0145	M	0.75085	2.285	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.36311	-0.9753	9	0.41790	T	0.15	.	14.8253	0.70107	1.0:0.0:0.0:0.0	.	701	Q9HCU4	CELR2_HUMAN	Y	701	ENSP00000271332:N701Y	ENSP00000271332:N701Y	N	+	1	0	CELSR2	109596325	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	8.709000	0.91379	2.102000	0.63906	0.529000	0.55759	AAT		0.567	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1		NM_001408	
CELSR3	1951	broad.mit.edu;ucsc.edu	37	3	48682160	48682160	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr3:48682160G>T	ENST00000164024.4	-	26	8354	c.8074C>A	c.(8074-8076)Ctg>Atg	p.L2692M	CELSR3_ENST00000544264.1_Missense_Mutation_p.L2697M|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2692					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L2692M(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACTATGACCAGGACAACAGGG	0.617																																																	1	Substitution - Missense(1)	kidney(1)											70.0	63.0	65.0					3																	48682160		2201	4299	6500	SO:0001583	missense	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8074C>A	3.37:g.48682160G>T	ENSP00000164024:p.Leu2692Met		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.040111	0.55003	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.43688	0.94;0.94	5.45	2.4	0.29515	GPCR, family 2-like (1);	.	.	.	.	T	0.48502	0.1503	M	0.73430	2.235	0.09310	N	1	B;P	0.50369	0.425;0.934	B;P	0.52758	0.145;0.708	T	0.46162	-0.9211	9	0.59425	D	0.04	.	1.587	0.02646	0.1434:0.1966:0.3243:0.3356	.	2692;2789	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	M	2692;2697	ENSP00000164024:L2692M;ENSP00000445694:L2697M	ENSP00000164024:L2692M	L	-	1	2	CELSR3	48657164	0.972000	0.33761	0.188000	0.23233	0.957000	0.61999	0.607000	0.24209	1.278000	0.44430	0.561000	0.74099	CTG		0.617	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1		NM_001407	
COL21A1	81578	broad.mit.edu;hgsc.bcm.edu	37	6	55933843	55933843	+	Splice_Site	SNP	C	C	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr6:55933843C>A	ENST00000244728.5	-	22	2489		c.e22+1		COL21A1_ENST00000467045.1_Splice_Site|COL21A1_ENST00000370819.1_Splice_Site|COL21A1_ENST00000535941.1_Splice_Site|COL21A1_ENST00000370808.2_Splice_Site	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1						extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.?(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCAATGCATACCTTTTTTCCT	0.383																																																	2	Unknown(2)	kidney(2)											81.0	82.0	82.0					6																	55933843		1843	4077	5920	SO:0001630	splice_region_variant	81578			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.2091+1G>T	6.37:g.55933843C>A			A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Splice_Site	SNP	ENST00000244728.5	37	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974716	0.53720	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811;ENST00000370808	.	.	.	4.11	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3057	0.73990	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL21A1	56041802	1.000000	0.71417	0.997000	0.53966	0.737000	0.42083	4.790000	0.62453	1.988000	0.58038	0.557000	0.71058	.		0.383	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			Intron
CSNK1A1L	122011	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	37679100	37679100	+	Silent	SNP	T	T	C			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr13:37679100T>C	ENST00000379800.3	-	1	703	c.294A>G	c.(292-294)gaA>gaG	p.E98E		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	98	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E98E(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TAAAGAGGTCTTCGAGGCTGG	0.448																																																	1	Substitution - coding silent(1)	kidney(1)											110.0	106.0	107.0					13																	37679100		2203	4300	6503	SO:0001819	synonymous_variant	122011			BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.294A>G	13.37:g.37679100T>C			Q5T2N2	Silent	SNP	ENST00000379800.3	37	CCDS9363.1																																																																																				0.448	CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1		NM_145203	
DLG2	1740	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	83544667	83544667	+	Missense_Mutation	SNP	T	T	A	rs201826892		TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr11:83544667T>A	ENST00000532653.1	-	12	1699	c.1397A>T	c.(1396-1398)cAg>cTg	p.Q466L	DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000330014.6_Missense_Mutation_p.Q405L|DLG2_ENST00000543673.1_Missense_Mutation_p.Q571L|DLG2_ENST00000418306.2_Missense_Mutation_p.Q363L|DLG2_ENST00000537455.1_Missense_Mutation_p.Q220L|DLG2_ENST00000524982.1_Missense_Mutation_p.Q466L|DLG2_ENST00000280241.8_Missense_Mutation_p.Q505L|DLG2_ENST00000398301.2_Missense_Mutation_p.Q505L|DLG2_ENST00000376104.2_Missense_Mutation_p.Q571L|DLG2_ENST00000398309.2_Missense_Mutation_p.Q466L|DLG2_ENST00000531015.1_Missense_Mutation_p.Q433L			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	208	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.Q505L(1)|p.Q363L(1)|p.Q571L(1)|p.Q466L(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CGATAGGATCTGGTCTCCTCT	0.433																																																	4	Substitution - Missense(4)	kidney(4)											100.0	109.0	106.0					11																	83544667		2133	4262	6395	SO:0001583	missense	1740			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1397A>T	11.37:g.83544667T>A	ENSP00000435849:p.Gln466Leu		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37		.	.	.	.	.	.	.	.	.	.	T	15.23	2.771031	0.49680	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000537455;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301	T;T;T;T;T;T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62	5.25	4.13	0.48395	PDZ/DHR/GLGF (4);	0.092240	0.44902	D	0.000420	T	0.32971	0.0847	L	0.47078	1.49	0.80722	D	1	B;B;B;B;P;B;B;B	0.46020	0.013;0.015;0.034;0.008;0.871;0.036;0.059;0.008	B;B;B;B;P;B;B;B	0.47941	0.099;0.055;0.05;0.05;0.562;0.068;0.119;0.037	T	0.02526	-1.1146	9	.	.	.	.	10.6179	0.45462	0.0:0.0751:0.0:0.9249	.	433;466;466;405;505;571;466;363	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	L	466;571;363;571;505;405;220;466;466;571;433;505	ENSP00000381355:Q466L;ENSP00000365272:Q571L;ENSP00000402275:Q363L;ENSP00000441994:Q571L;ENSP00000280241:Q505L;ENSP00000381353:Q405L;ENSP00000443248:Q220L;ENSP00000432894:Q466L;ENSP00000435849:Q466L;ENSP00000433848:Q433L;ENSP00000381346:Q505L	.	Q	-	2	0	DLG2	83222315	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.117000	0.50407	0.862000	0.35528	0.528000	0.53228	CAG		0.433	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2		NM_001364	
DYNC1H1	1778	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	102452696	102452696	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr14:102452696G>A	ENST00000360184.4	+	8	2298	c.2134G>A	c.(2134-2136)Ggt>Agt	p.G712S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	712	Interaction with DYNC1LI2. {ECO:0000250}.|Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.G712S(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCGCAACCTCGGTGTCTCGGG	0.527																																																	1	Substitution - Missense(1)	kidney(1)											72.0	58.0	63.0					14																	102452696		2203	4300	6503	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.2134G>A	14.37:g.102452696G>A	ENSP00000348965:p.Gly712Ser		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	9.119	1.008517	0.19199	.	.	ENSG00000197102	ENST00000360184	T	0.52983	0.64	5.71	5.71	0.89125	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.31544	0.0800	N	0.16201	0.385	0.80722	D	1	B	0.23249	0.082	B	0.23852	0.049	T	0.20907	-1.0261	10	0.02654	T	1	.	19.8442	0.96702	0.0:0.0:1.0:0.0	.	712	Q14204	DYHC1_HUMAN	S	712	ENSP00000348965:G712S	ENSP00000348965:G712S	G	+	1	0	DYNC1H1	101522449	1.000000	0.71417	0.963000	0.40424	0.959000	0.62525	9.471000	0.97696	2.696000	0.92011	0.655000	0.94253	GGT		0.527	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1		NM_001376	
EDIL3	10085	broad.mit.edu;ucsc.edu	37	5	83402565	83402565	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr5:83402565C>A	ENST00000296591.5	-	6	971	c.553G>T	c.(553-555)Gga>Tga	p.G185*	EDIL3_ENST00000380138.3_Nonsense_Mutation_p.G175*	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	185	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.G185*(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TTTTGGAGTCCAAAAAGAGCT	0.448																																																	1	Substitution - Nonsense(1)	kidney(1)											187.0	194.0	192.0					5																	83402565		2203	4300	6503	SO:0001587	stop_gained	10085			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.553G>T	5.37:g.83402565C>A	ENSP00000296591:p.Gly185*		B2R763|O43855|Q5D094|Q8N610	Nonsense_Mutation	SNP	ENST00000296591.5	37	CCDS4062.1	.	.	.	.	.	.	.	.	.	.	C	40	8.052625	0.98629	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	.	.	.	5.55	5.55	0.83447	.	0.050150	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.9715	19.5157	0.95162	0.0:1.0:0.0:0.0	.	.	.	.	X	185;175	.	ENSP00000296591:G185X	G	-	1	0	EDIL3	83438321	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.277000	0.78572	2.630000	0.89119	0.650000	0.86243	GGA		0.448	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1		NM_005711	
FAM21A	387680	broad.mit.edu;hgsc.bcm.edu	37	10	51829431	51829431	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr10:51829431A>G	ENST00000282633.5	+	3	296	c.251A>G	c.(250-252)aAt>aGt	p.N84S	FAM21A_ENST00000351071.6_Missense_Mutation_p.N84S|FAM21A_ENST00000492914.1_3'UTR|RP11-324H6.5_ENST00000456967.1_RNA|FAM21A_ENST00000314664.7_Missense_Mutation_p.N84S	NM_001005751.1	NP_001005751.1	Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	84					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)		p.N84S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						AATGTCTTCAATGACTTCCTT	0.368																																																	1	Substitution - Missense(1)	kidney(1)											182.0	185.0	184.0					10																	51829431		1855	4101	5956	SO:0001583	missense	387680			BC082258	CCDS41527.1	10q11.23	2014-06-19			ENSG00000099290	ENSG00000099290			23416	protein-coding gene	gene with protein product			"""family with sequence similarity 21, member B"""	FAM21B			Standard	XM_005269805		Approved	bA56A21.1, bA98I6.1, FLJ10824	uc001jjb.3	Q641Q2	OTTHUMG00000018225	ENST00000282633.5:c.251A>G	10.37:g.51829431A>G	ENSP00000282633:p.Asn84Ser		A2A3S2|A2A3U6|Q6DHY0	Missense_Mutation	SNP	ENST00000282633.5	37	CCDS41527.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.966661	0.74131	.	.	ENSG00000099290	ENST00000351071;ENST00000314664;ENST00000434114;ENST00000282633	.	.	.	3.73	3.73	0.42828	.	0.041308	0.85682	N	0.000000	T	0.76814	0.4040	M	0.82056	2.57	0.80722	D	1	D;D;D	0.63880	0.984;0.958;0.993	D;P;D	0.68943	0.938;0.832;0.961	T	0.79487	-0.1783	9	0.72032	D	0.01	-24.2684	10.681	0.45815	1.0:0.0:0.0:0.0	.	84;84;84	E7ESD2;Q641Q2-2;Q641Q2	.;.;FA21A_HUMAN	S	84;84;83;84	.	ENSP00000282633:N84S	N	+	2	0	FAM21A	51499437	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.275000	0.78548	1.460000	0.47911	0.163000	0.16589	AAT		0.368	FAM21A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276917.2		NM_001005751	
FBXO43	286151	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	101146397	101146398	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr8:101146397_101146398insT	ENST00000428847.2	-	4	2185_2186	c.1869_1870insA	c.(1867-1872)gaatatfs	p.Y624fs		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	624					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			ACCTTAACATATTCTTCCTGTT	0.342																																																	0																																										SO:0001589	frameshift_variant	286151			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1870dupA	8.37:g.101146399_101146399dupT	ENSP00000403293:p.Tyr624fs			Frame_Shift_Ins	INS	ENST00000428847.2	37	CCDS47904.1																																																																																				0.342	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1		XM_209918	
FMO5	2330	hgsc.bcm.edu;ucsc.edu	37	1	146656103	146656103	+	IGR	DEL	A	A	-			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr1:146656103delA	ENST00000254090.4	-	0	2632				FMO5_ENST00000441068.2_Frame_Shift_Del_p.C455fs|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					attccgggacaatttctcaga	0.353																																																	0													107.0	94.0	98.0					1																	146656103		692	1591	2283	SO:0001628	intergenic_variant	2330			Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607		1.37:g.146656103delA			B2RBG1|C9JJD1|Q8IV22	Frame_Shift_Del	DEL	ENST00000254090.4	37	CCDS926.1																																																																																				0.353	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2		NM_001461	
PAXBP1	94104	broad.mit.edu;ucsc.edu	37	21	34142136	34142136	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr21:34142136G>A	ENST00000331923.4	-	2	650	c.461C>T	c.(460-462)tCa>tTa	p.S154L	C21orf49_ENST00000382378.1_5'Flank|PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Missense_Mutation_p.S154L|C21orf49_ENST00000453404.1_5'Flank|C21orf49_ENST00000477513.1_5'Flank|C21orf49_ENST00000382375.4_5'Flank	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	154					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S154L(1)									TTCAGCTGATGAGTTGAGTTC	0.303																																																	1	Substitution - Missense(1)	kidney(1)											161.0	143.0	149.0					21																	34142136		2202	4297	6499	SO:0001583	missense	0			AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.461C>T	21.37:g.34142136G>A	ENSP00000328992:p.Ser154Leu		D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	G	10.86	1.469432	0.26423	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.34667	1.78;1.35	5.28	5.28	0.74379	.	0.297299	0.28736	N	0.014320	T	0.56366	0.1980	M	0.71581	2.175	0.35997	D	0.837088	B;D	0.57899	0.137;0.981	B;D	0.67231	0.109;0.95	T	0.61869	-0.6974	10	0.31617	T	0.26	-2.4229	14.1899	0.65633	0.0:0.1496:0.8504:0.0	.	154;154	Q9Y5B6-2;Q9Y5B6	.;GCFC1_HUMAN	L	154	ENSP00000328992:S154L;ENSP00000290178:S154L	ENSP00000290178:S154L	S	-	2	0	GCFC1	33064007	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	6.483000	0.73617	2.475000	0.83589	0.650000	0.86243	TCA		0.303	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1		NM_013329	
GGNBP2	79893	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	34935726	34935726	+	Silent	SNP	G	G	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr17:34935726G>T	ENST00000304718.4	+	8	1213	c.897G>T	c.(895-897)ctG>ctT	p.L299L		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	299					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)		p.L299L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AAGAAGTTCTGACCTGCTTGG	0.403																																																	1	Substitution - coding silent(1)	kidney(1)											172.0	175.0	174.0					17																	34935726		2203	4300	6503	SO:0001819	synonymous_variant	79893			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.897G>T	17.37:g.34935726G>T			B2RPK7|Q96T90|Q9GZR8|Q9H767	Silent	SNP	ENST00000304718.4	37	CCDS11314.1																																																																																				0.403	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2		NM_024835	
GREB1L	80000	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	19093876	19093876	+	Silent	SNP	C	C	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr18:19093876C>A	ENST00000580732.2	+	28	5211	c.4830C>A	c.(4828-4830)gtC>gtA	p.V1610V	GREB1L_ENST00000424526.1_Silent_p.V1610V|GREB1L_ENST00000400483.4_3'UTR|GREB1L_ENST00000269218.6_Silent_p.V1501V			Q9C091	GRB1L_HUMAN	growth regulation by estrogen in breast cancer-like	1610						integral component of membrane (GO:0016021)		p.V1610V(1)		breast(5)|endometrium(4)|kidney(6)|lung(1)|skin(1)	17						GCCAGTGTGTCTGGCCTTTCA	0.502																																																	1	Substitution - coding silent(1)	kidney(1)											191.0	159.0	169.0					18																	19093876		692	1591	2283	SO:0001819	synonymous_variant	80000			AK023749	CCDS45836.1	18q11.2	2009-09-08	2009-09-08	2009-09-08					31042	protein-coding gene	gene with protein product			"""KIAA1772"""	KIAA1772		11214970	Standard	NM_001142966		Approved	FLJ13687, C18orf6	uc010xam.2	Q9C091		ENST00000580732.2:c.4830C>A	18.37:g.19093876C>A			A4QN17|Q9H8F1	Silent	SNP	ENST00000580732.2	37	CCDS45836.1																																																																																				0.502	GREB1L-003	KNOWN	not_organism_supported|upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443782.2		NM_024935	
HDAC7	51564	broad.mit.edu;ucsc.edu	37	12	48185052	48185052	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr12:48185052C>G	ENST00000427332.2	-	16	2012	c.1856G>C	c.(1855-1857)gGt>gCt	p.G619A	HDAC7_ENST00000552960.1_Missense_Mutation_p.G641A|HDAC7_ENST00000080059.7_Missense_Mutation_p.G658A|HDAC7_ENST00000488927.1_5'UTR|HDAC7_ENST00000380610.4_Missense_Mutation_p.G675A|HDAC7_ENST00000354334.3_Missense_Mutation_p.G621A			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	619	Histone deacetylase.				cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)	p.G619A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CCCAACCCCACCACAGGGCAG	0.652																																																	1	Substitution - Missense(1)	kidney(1)											56.0	54.0	54.0					12																	48185052		2190	4291	6481	SO:0001583	missense	51564			AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"""histone deacetylase 7A"""	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.1856G>C	12.37:g.48185052C>G	ENSP00000404394:p.Gly619Ala		B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Missense_Mutation	SNP	ENST00000427332.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.2|27.2	4.810543|4.810543	0.90707|0.90707	.|.	.|.	ENSG00000061273|ENSG00000061273	ENST00000080059;ENST00000354334;ENST00000552960;ENST00000380610;ENST00000427332|ENST00000548080	T;T;T;T;T|.	0.58940|.	0.33;0.3;0.34;0.32;0.35|.	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82332|0.82332	0.5014|0.5014	M|M	0.85859|0.85859	2.78|2.78	0.80722|0.80722	D|D	1|1	B;P;D|.	0.67145|.	0.307;0.953;0.996|.	B;D;P|.	0.66847|.	0.3;0.947;0.865|.	D|D	0.84343|0.84343	0.0528|0.0528	10|5	0.56958|.	D|.	0.05|.	.|.	17.5879|17.5879	0.87987|0.87987	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	658;641;621|.	Q8WUI4-5;Q8WUI4-6;Q8WUI4-7|.	.;.;.|.	A|L	658;621;641;675;619|99	ENSP00000080059:G658A;ENSP00000351326:G621A;ENSP00000448532:G641A;ENSP00000369984:G675A;ENSP00000404394:G619A|.	ENSP00000080059:G658A|.	G|V	-|-	2|1	0|0	HDAC7|HDAC7	46471319|46471319	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.998000|0.998000	0.95712|0.95712	7.578000|7.578000	0.82498|0.82498	2.560000|2.560000	0.86352|0.86352	0.558000|0.558000	0.71614|0.71614	GGT|GTG		0.652	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			
IKZF4	64375	hgsc.bcm.edu;ucsc.edu	37	12	56428493	56428493	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr12:56428493delA	ENST00000262032.5	+	12	1503	c.1136delA	c.(1135-1137)gagfs	p.E379fs	RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000431367.2_Frame_Shift_Del_p.E277fs|IKZF4_ENST00000547167.1_Frame_Shift_Del_p.E379fs|IKZF4_ENST00000547791.1_Frame_Shift_Del_p.E334fs			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	379					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			GTGGGTGCAGAGCATCTGCGT	0.567																																																	0													118.0	120.0	119.0					12																	56428493		2070	4216	6286	SO:0001589	frameshift_variant	64375			AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13179	protein-coding gene	gene with protein product		606239	"""zinc finger protein, subfamily 1A, 4 (Eos)"""	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.1136delA	12.37:g.56428493delA	ENSP00000262032:p.Glu379fs		Q96JP3	Frame_Shift_Del	DEL	ENST00000262032.5	37	CCDS44917.1																																																																																				0.567	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1		NM_022465	
KLK13	26085	hgsc.bcm.edu;ucsc.edu	37	19	51559915	51559915	+	Missense_Mutation	SNP	C	C	T	rs150383488		TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr19:51559915C>T	ENST00000595793.1	-	5	805	c.763G>A	c.(763-765)Gtc>Atc	p.V255I	KLK13_ENST00000335422.3_Missense_Mutation_p.V103I|KLK13_ENST00000595547.1_Missense_Mutation_p.V182I	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	255	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		ATCCACAGGACGTATCTTGAG	0.502																																																	0								C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	213.0	203.0	207.0		763	0.9	0.0	19	dbSNP_134	207	0,8600		0,0,4300	no	missense	KLK13	NM_015596.1	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	255/278	51559915	1,13005	2203	4300	6503	SO:0001583	missense	26085				CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"""Kallikreins"""	6361	protein-coding gene	gene with protein product		605505	"""kallikrein 13"""			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.763G>A	19.37:g.51559915C>T	ENSP00000470555:p.Val255Ile		A7UNK6|Q86VI8|Q9Y433	Missense_Mutation	SNP	ENST00000595793.1	37	CCDS12822.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.456752	0.26161	2.27E-4	0.0	ENSG00000167759	ENST00000156476;ENST00000335422	D	0.92858	-3.12	4.35	0.893	0.19236	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.161523	0.28914	N	0.013728	T	0.81592	0.4855	L	0.35487	1.065	0.09310	N	0.999996	B;P;B	0.48294	0.273;0.908;0.029	B;B;B	0.34452	0.027;0.183;0.015	T	0.74070	-0.3783	10	0.40728	T	0.16	.	6.0054	0.19542	0.0:0.6495:0.163:0.1875	.	103;182;255	Q86VI8;Q86VI7;Q9UKR3	.;.;KLK13_HUMAN	I	255;103	ENSP00000334079:V103I	ENSP00000156476:V255I	V	-	1	0	KLK13	56251727	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.793000	0.04589	0.192000	0.20272	-0.263000	0.10527	GTC		0.502	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2		NM_015596	
LIG4	3981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	108861063	108861063	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr13:108861063C>T	ENST00000356922.4	-	2	2826	c.2554G>A	c.(2554-2556)Gta>Ata	p.V852I	LIG4_ENST00000442234.1_Missense_Mutation_p.V852I|LIG4_ENST00000405925.1_Missense_Mutation_p.V852I	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	852	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.V852I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CAAGAAACTACTTTTGCTCCA	0.373								Non-homologous end-joining																																									1	Substitution - Missense(1)	kidney(1)											100.0	99.0	99.0					13																	108861063		2203	4300	6503	SO:0001583	missense	3981			X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.2554G>A	13.37:g.108861063C>T	ENSP00000349393:p.Val852Ile		Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430978	0.25726	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	D;D;D	0.83250	-1.7;-1.7;-1.7	5.75	3.09	0.35607	BRCT (4);	0.192662	0.44688	N	0.000427	T	0.75287	0.3829	M	0.62723	1.935	0.37052	D	0.897627	B	0.21688	0.059	B	0.17979	0.02	T	0.64715	-0.6342	10	0.16896	T	0.51	.	5.837	0.18613	0.2721:0.5856:0.0:0.1422	.	852	P49917	DNLI4_HUMAN	I	852	ENSP00000385955:V852I;ENSP00000402030:V852I;ENSP00000349393:V852I	ENSP00000349393:V852I	V	-	1	0	LIG4	107659064	0.955000	0.32602	0.059000	0.19551	0.767000	0.43475	2.187000	0.42602	0.364000	0.24374	0.567000	0.79289	GTA		0.373	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4		NM_002312	
LOXHD1	125336	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	44122812	44122812	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr18:44122812G>A	ENST00000398722.4	-	17	2791	c.2792C>T	c.(2791-2793)aCc>aTc	p.T931I	LOXHD1_ENST00000536736.1_Missense_Mutation_p.T1209I|LOXHD1_ENST00000300591.6_Missense_Mutation_p.T98I|LOXHD1_ENST00000441551.2_Missense_Mutation_p.T1003I|LOXHD1_ENST00000579038.1_Missense_Mutation_p.T2I|LOXHD1_ENST00000441893.2_Missense_Mutation_p.T142I|LOXHD1_ENST00000582408.1_Missense_Mutation_p.T98I			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	931	PLAT 7. {ECO:0000255|PROSITE- ProRule:PRU00152}.				calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|sensory perception of sound (GO:0007605)	membrane (GO:0016020)|stereocilium (GO:0032420)	calcium channel activity (GO:0005262)	p.T931I(1)|p.T1209I(1)		NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						CTTCAGGAGGGTCATTCCTGT	0.498																																																	2	Substitution - Missense(2)	kidney(2)											76.0	74.0	74.0					18																	44122812		692	1591	2283	SO:0001583	missense	125336			AK057232	CCDS45861.1, CCDS45862.1, CCDS54184.1	18q21.1	2009-09-11			ENSG00000167210	ENSG00000167210			26521	protein-coding gene	gene with protein product		613072	"""deafness, autosomal recessive 77"""	DFNB77		19732867	Standard	NM_144612		Approved	FLJ32670, LH2D1	uc010xcw.1	Q8IVV2	OTTHUMG00000132644	ENST00000398722.4:c.2792C>T	18.37:g.44122812G>A	ENSP00000381707:p.Thr931Ile		B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Missense_Mutation	SNP	ENST00000398722.4	37		.	.	.	.	.	.	.	.	.	.	G	12.62	1.991967	0.35131	.	.	ENSG00000167210	ENST00000300591;ENST00000398722;ENST00000536736;ENST00000441893;ENST00000335730;ENST00000536111;ENST00000420097	T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04	5.92	3.82	0.43975	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.365926	0.33217	N	0.005144	T	0.28433	0.0703	N	0.01015	-1.05	0.30505	N	0.769976	B;B;B;B	0.27416	0.113;0.104;0.178;0.085	B;B;B;B	0.30401	0.032;0.054;0.07;0.115	T	0.24225	-1.0166	10	0.21014	T	0.42	.	6.8314	0.23913	0.3422:0.0:0.6578:0.0	.	1209;142;931;931	F5GZB4;F8WA52;Q8IVV2-2;Q8IVV2	.;.;.;LOXH1_HUMAN	I	98;931;1209;142;931;111;111	ENSP00000300591:T98I;ENSP00000381707:T931I;ENSP00000444586:T1209I;ENSP00000409062:T142I;ENSP00000440060:T111I	ENSP00000300591:T98I	T	-	2	0	LOXHD1	42376810	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.692000	0.61746	1.510000	0.48803	0.561000	0.74099	ACC		0.498	LOXHD1-201	KNOWN	basic	protein_coding	protein_coding			NM_144612	
PLPPR1	54886	hgsc.bcm.edu;ucsc.edu	37	9	104048510	104048510	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr9:104048510G>T	ENST00000374874.3	+	4	816	c.377G>T	c.(376-378)aGa>aTa	p.R126I	LPPR1_ENST00000395056.2_Missense_Mutation_p.R126I	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		126					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)										AGGATCATAAGATTCACAGGT	0.368																																																	0													87.0	81.0	83.0					9																	104048510		2203	4300	6503	SO:0001583	missense	54886																														ENST00000374874.3:c.377G>T	9.37:g.104048510G>T	ENSP00000364008:p.Arg126Ile		Q5VX23|Q9NXE2	Missense_Mutation	SNP	ENST00000374874.3	37	CCDS6751.1	.	.	.	.	.	.	.	.	.	.	G	31	5.083502	0.94050	.	.	ENSG00000148123	ENST00000374874;ENST00000374871;ENST00000395056	T;T	0.55234	0.53;0.53	5.63	5.63	0.86233	.	0.052276	0.85682	D	0.000000	T	0.74816	0.3766	M	0.82823	2.61	0.80722	D	1	D;D	0.69078	0.997;0.99	D;P	0.65010	0.931;0.675	T	0.77900	-0.2415	10	0.87932	D	0	-28.6199	19.0377	0.92986	0.0:0.0:1.0:0.0	.	110;126	B7Z8P4;Q8TBJ4	.;LPPR1_HUMAN	I	126	ENSP00000364008:R126I;ENSP00000378496:R126I	ENSP00000364005:R126I	R	+	2	0	RP11-35N6.1	103088331	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	9.153000	0.94687	2.798000	0.96311	0.655000	0.94253	AGA		0.368	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053425.1			
LXN	56925	broad.mit.edu	37	3	158390257	158390257	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr3:158390257G>A	ENST00000264265.3	-	1	225	c.11C>T	c.(10-12)cCg>cTg	p.P4L	GFM1_ENST00000486715.1_Intron|GFM1_ENST00000478576.1_Intron|GFM1_ENST00000264263.5_Intron	NM_020169.3	NP_064554.3	Q9BS40	LXN_HUMAN	latexin	4	Cystatin-like fold 1. {ECO:0000250}.				detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|metalloendopeptidase inhibitor activity (GO:0008191)	p.P4L(1)		breast(2)|endometrium(1)|kidney(2)	5			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GTTGGTCGGCGGGATTTCCAT	0.617											OREG0015899	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											73.0	77.0	76.0					3																	158390257		2203	4300	6503	SO:0001583	missense	56925			AF087851	CCDS3183.1	3q25.32	2004-05-10			ENSG00000079257	ENSG00000079257			13347	protein-coding gene	gene with protein product		609305					Standard	NM_020169		Approved		uc003fch.3	Q9BS40	OTTHUMG00000158807	ENST00000264265.3:c.11C>T	3.37:g.158390257G>A	ENSP00000264265:p.Pro4Leu	1793	Q96PN2|Q9NQS6	Missense_Mutation	SNP	ENST00000264265.3	37	CCDS3183.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.495439	0.44352	.	.	ENSG00000079257	ENST00000264265	T	0.23348	1.91	5.4	4.52	0.55395	.	0.478022	0.24063	N	0.041883	T	0.40067	0.1102	M	0.67953	2.075	0.45634	D	0.99856	D	0.65815	0.995	P	0.54312	0.748	T	0.21965	-1.0230	10	0.39692	T	0.17	-0.9341	13.1078	0.59257	0.0:0.0:0.7087:0.2913	.	4	Q9BS40	LXN_HUMAN	L	4	ENSP00000264265:P4L	ENSP00000264265:P4L	P	-	2	0	LXN	159872951	0.989000	0.36119	0.730000	0.30809	0.649000	0.38597	2.190000	0.42630	1.493000	0.48517	0.655000	0.94253	CCG		0.617	LXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352284.1		NM_020169	
MACF1	23499	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	39893209	39893209	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr1:39893209A>T	ENST00000372915.3	+	61	16501	c.16414A>T	c.(16414-16416)Aca>Tca	p.T5472S	MACF1_ENST00000317713.7_Missense_Mutation_p.T3405S|MACF1_ENST00000567887.1_Missense_Mutation_p.T5504S|MACF1_ENST00000539005.1_Missense_Mutation_p.T3384S|MACF1_ENST00000289893.4_Missense_Mutation_p.T3907S|MACF1_ENST00000361689.2_Missense_Mutation_p.T3405S|MACF1_ENST00000545844.1_Missense_Mutation_p.T3405S|MACF1_ENST00000564288.1_Missense_Mutation_p.T5467S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5472					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.T3907S(1)|p.T3405S(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTTATCTGTCACAGAGAAAAA	0.438																																																	2	Substitution - Missense(2)	kidney(2)											111.0	116.0	114.0					1																	39893209		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16414A>T	1.37:g.39893209A>T	ENSP00000362006:p.Thr5472Ser		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.3|27.3	4.822227|4.822227	0.90873|0.90873	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000482035	.|T;T;T;T;T;T;T	.|0.53206	.|0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.000000	.|0.64402	.|D	.|0.000013	T|T	0.68943|0.68943	0.3056|0.3056	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.998;0.999;0.999	.|D;D;D	.|0.81914	.|0.995;0.977;0.977	T|T	0.71978|0.71978	-0.4429|-0.4429	5|10	.|0.59425	.|D	.|0.04	.|.	15.9609|15.9609	0.79930|0.79930	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|5472;3405;3349	.|Q9UPN3;F8W8Q1;Q9UPN3-3	.|MACF1_HUMAN;.;.	L|S	2517|3405;5472;3405;3405;3384;3907;221	.|ENSP00000439537:T3405S;ENSP00000362006:T5472S;ENSP00000354573:T3405S;ENSP00000313438:T3405S;ENSP00000444364:T3384S;ENSP00000289893:T3907S;ENSP00000433104:T221S	.|ENSP00000289893:T3907S	H|T	+|+	2|1	0|0	MACF1|MACF1	39665796|39665796	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.339000|9.339000	0.96797|0.96797	2.174000|2.174000	0.68829|0.68829	0.455000|0.455000	0.32223|0.32223	CAC|ACA		0.438	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044	
MED12L	116931	broad.mit.edu	37	3	151100523	151100523	+	Missense_Mutation	SNP	G	G	T	rs564982734		TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr3:151100523G>T	ENST00000474524.1	+	31	4603	c.4565G>T	c.(4564-4566)cGc>cTc	p.R1522L	MED12L_ENST00000273432.4_Missense_Mutation_p.R1382L|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1522						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.R1522L(6)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGCAACTCCGCCTAAATTTG	0.388																																																	6	Substitution - Missense(6)	kidney(6)											59.0	57.0	58.0					3																	151100523		2203	4300	6503	SO:0001583	missense	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4565G>T	3.37:g.151100523G>T	ENSP00000417235:p.Arg1522Leu		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.758053	0.89843	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	D;D	0.83506	-1.69;-1.73	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.90103	0.6908	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	1.0;0.988;0.979	D;P;P	0.79784	0.993;0.872;0.748	D	0.90578	0.4527	10	0.87932	D	0	-20.9398	13.1112	0.59275	0.0733:0.0:0.9267:0.0	.	1382;1521;1522	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	L	1522;1382	ENSP00000417235:R1522L;ENSP00000273432:R1382L	ENSP00000273432:R1382L	R	+	2	0	MED12L	152583213	1.000000	0.71417	0.856000	0.33681	0.965000	0.64279	5.544000	0.67231	2.784000	0.95788	0.644000	0.83932	CGC		0.388	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2		NM_053002	
MEGF10	84466	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	126774247	126774247	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr5:126774247T>C	ENST00000274473.6	+	18	2488	c.2221T>C	c.(2221-2223)Tac>Cac	p.Y741H	MEGF10_ENST00000503335.2_Missense_Mutation_p.Y741H	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	741	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.Y741H(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GACAGGGCTCTACTGCACTCA	0.562																																																	1	Substitution - Missense(1)	kidney(1)											110.0	93.0	99.0					5																	126774247		2203	4300	6503	SO:0001583	missense	84466			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2221T>C	5.37:g.126774247T>C	ENSP00000274473:p.Tyr741His		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	T	15.68	2.906325	0.52333	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.67698	-0.28;-0.28	6.17	6.17	0.99709	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000002	T	0.49932	0.1586	N	0.12422	0.21	0.80722	D	1	B	0.32731	0.382	B	0.33690	0.168	T	0.49916	-0.8888	10	0.15066	T	0.55	-37.3721	16.8222	0.85835	0.0:0.0:0.0:1.0	.	741	Q96KG7	MEG10_HUMAN	H	741	ENSP00000423354:Y741H;ENSP00000274473:Y741H	ENSP00000274473:Y741H	Y	+	1	0	MEGF10	126802146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.004000	0.88535	2.371000	0.80710	0.533000	0.62120	TAC		0.562	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2		NM_032446	
MRPS18C	51023	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	84379580	84379580	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr4:84379580C>A	ENST00000295491.4	+	3	345	c.232C>A	c.(232-234)Cag>Aag	p.Q78K	MRPS18C_ENST00000507349.1_Intron|MRPS18C_ENST00000507019.1_Intron|HELQ_ENST00000510985.1_5'Flank|HELQ_ENST00000295488.3_5'Flank|HELQ_ENST00000440639.2_5'Flank	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C	78					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)	p.Q78K(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				TAAGAATGTACAGGTGAGATC	0.338																																																	1	Substitution - Missense(1)	kidney(1)											112.0	119.0	117.0					4																	84379580		2202	4300	6502	SO:0001583	missense	51023				CCDS3604.1, CCDS75159.1	4q21.21-q21.23	2012-09-13			ENSG00000163319	ENSG00000163319		"""Mitochondrial ribosomal proteins / small subunits"""	16633	protein-coding gene	gene with protein product		611983				11279123, 10810093	Standard	XM_005263043		Approved	MRPS18-1, CGI-134, FLJ11146, FLJ22967	uc003hor.4	Q9Y3D5	OTTHUMG00000130430	ENST00000295491.4:c.232C>A	4.37:g.84379580C>A	ENSP00000295491:p.Gln78Lys			Missense_Mutation	SNP	ENST00000295491.4	37	CCDS3604.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953534	0.73902	.	.	ENSG00000163319	ENST00000295491;ENST00000505719	.	.	.	5.0	5.0	0.66597	Ribosomal protein S18, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.60287	0.2257	N	0.21142	0.635	0.80722	D	1	D	0.67145	0.996	P	0.61070	0.883	T	0.55075	-0.8197	9	0.21540	T	0.41	-10.8279	18.4792	0.90806	0.0:1.0:0.0:0.0	.	78	Q9Y3D5	RT18C_HUMAN	K	78;74	.	ENSP00000295491:Q78K	Q	+	1	0	MRPS18C	84598604	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.490000	0.73645	2.615000	0.88500	0.591000	0.81541	CAG		0.338	MRPS18C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252820.2			
MUC4	4585	broad.mit.edu	37	3	195506597	195506597	+	Missense_Mutation	SNP	G	G	A	rs200685331	byFrequency	TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr3:195506597G>A	ENST00000463781.3	-	2	12313	c.11854C>T	c.(11854-11856)Cct>Tct	p.P3952S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P3952S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.P3952S(8)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACAGGAAGAGGGGTGGTGTCA	0.602													.|||	94	0.01877	0.0068	0.0476	5008	,	,		9784	0.002		0.0467	False		,,,				2504	0.0031																8	Substitution - Missense(8)	kidney(4)|skin(2)|stomach(1)|endometrium(1)											14.0	11.0	12.0					3																	195506597		651	1454	2105	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11854C>T	3.37:g.195506597G>A	ENSP00000417498:p.Pro3952Ser		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	3.614	-0.078859	0.07141	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30981	1.57;1.51	.	.	.	.	.	.	.	.	T	0.14527	0.0351	N	0.19112	0.55	0.09310	N	1	B	0.22080	0.064	B	0.23419	0.046	T	0.25012	-1.0144	7	.	.	.	.	4.6062	0.12378	0.3343:0.0:0.6657:0.0	.	3824	E7ESK3	.	S	3952	ENSP00000417498:P3952S;ENSP00000420243:P3952S	.	P	-	1	0	MUC4	196991376	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-1.291000	0.02775	-2.068000	0.00884	-2.092000	0.00371	CCT		0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MUC4	4585	broad.mit.edu	37	3	195511396	195511396	+	Missense_Mutation	SNP	G	G	T	rs201453005	byFrequency	TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr3:195511396G>T	ENST00000463781.3	-	2	7514	c.7055C>A	c.(7054-7056)cCt>cAt	p.P2352H	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P2352H	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.P2352H(2)|p.P2352L(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACATGAAGAGGGGTGGCGTG	0.582																																																	3	Substitution - Missense(3)	kidney(2)|endometrium(1)											16.0	14.0	14.0					3																	195511396		674	1562	2236	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.7055C>A	3.37:g.195511396G>T	ENSP00000417498:p.Pro2352His		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	G	4.104	0.017349	0.07959	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.31769	1.48;1.48	.	.	.	.	.	.	.	.	T	0.08935	0.0221	N	0.02539	-0.55	0.09310	N	1	P	0.50156	0.932	B	0.37943	0.261	T	0.06625	-1.0816	7	.	.	.	.	2.9304	0.05797	0.3911:0.0:0.6089:0.0	.	2352	E7ESK3	.	H	2352	ENSP00000417498:P2352H;ENSP00000420243:P2352H	.	P	-	2	0	MUC4	196995791	0.028000	0.19301	0.005000	0.12908	0.064000	0.16182	1.205000	0.32308	0.488000	0.27723	0.064000	0.15345	CCT		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
NCOR1	9611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	15965052	15965052	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr17:15965052C>A	ENST00000268712.3	-	37	5801	c.5544G>T	c.(5542-5544)agG>agT	p.R1848S	NCOR1_ENST00000395851.1_Intron|NCOR1_ENST00000395857.3_Missense_Mutation_p.R432S	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1848	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|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)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.R1848S(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTTCTTCTAACCTGGCAGCTT	0.493																																																	1	Substitution - Missense(1)	kidney(1)											83.0	82.0	82.0					17																	15965052		2203	4300	6503	SO:0001583	missense	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.5544G>T	17.37:g.15965052C>A	ENSP00000268712:p.Arg1848Ser		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702255	0.68501	.	.	ENSG00000141027	ENST00000268712;ENST00000395849;ENST00000395857	T;T	0.47177	0.85;0.86	5.87	5.87	0.94306	.	0.048073	0.85682	D	0.000000	T	0.55065	0.1897	L	0.36672	1.1	0.48040	D	0.999578	D;D;D;D	0.89917	0.997;0.992;0.981;1.0	D;P;D;D	0.87578	0.993;0.784;0.966;0.998	T	0.51212	-0.8734	10	0.35671	T	0.21	-8.9733	9.3046	0.37867	0.1448:0.7811:0.0:0.0741	.	658;1752;1848;368	B4DZ48;E7EVK1;O75376;Q86YY1	.;.;NCOR1_HUMAN;.	S	1848;1752;432	ENSP00000268712:R1848S;ENSP00000379198:R432S	ENSP00000268712:R1848S	R	-	3	2	NCOR1	15905777	0.993000	0.37304	1.000000	0.80357	0.998000	0.95712	0.950000	0.29122	2.785000	0.95823	0.650000	0.86243	AGG		0.493	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5		NM_006311	
NBR1	4077	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	41343513	41343513	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr17:41343513C>T	ENST00000422280.1	+	10	1447	c.988C>T	c.(988-990)Cac>Tac	p.H330Y	NBR1_ENST00000590996.1_Missense_Mutation_p.H330Y|NBR1_ENST00000341165.6_Missense_Mutation_p.H330Y|NBR1_ENST00000589872.1_Missense_Mutation_p.H330Y|NBR1_ENST00000542611.1_Missense_Mutation_p.H309Y|NBR1_ENST00000389312.4_Missense_Mutation_p.H330Y	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	330					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.H330Y(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)		TAGGAAAATTCACCTGTGGAA	0.458																																																	1	Substitution - Missense(1)	kidney(1)											43.0	44.0	44.0					17																	41343513		1844	4098	5942	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.988C>T	17.37:g.41343513C>T	ENSP00000411250:p.His330Tyr		Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	37	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.526294	0.64860	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	T;T;T;T	0.46063	1.46;0.88;1.46;1.46	5.37	4.41	0.53225	.	0.121081	0.56097	D	0.000032	T	0.39009	0.1062	N	0.14661	0.345	0.36233	D	0.852773	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.68621	0.959;0.959;0.931;0.959	T	0.32903	-0.9889	10	0.02654	T	1	-7.5548	12.3474	0.55128	0.0:0.9217:0.0:0.0783	.	330;309;330;330	A8K1U0;B7Z5R6;Q14596-2;Q14596	.;.;.;NBR1_HUMAN	Y	330;309;330;330;330	ENSP00000411250:H330Y;ENSP00000437545:H309Y;ENSP00000343479:H330Y;ENSP00000373963:H330Y	ENSP00000343479:H330Y	H	+	1	0	NBR1	38597039	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	5.101000	0.64566	1.283000	0.44513	-0.136000	0.14681	CAC		0.458	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1		NM_005899	
NPR1	4881	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	153659728	153659728	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr1:153659728C>T	ENST00000368680.3	+	13	2460	c.1988C>T	c.(1987-1989)tCa>tTa	p.S663L		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	663	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)	p.S663L(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	AACCTCAAGTCATCCAACTGC	0.542																																					Pancreas(141;1349 1870 15144 15830 40702)												1	Substitution - Missense(1)	kidney(1)											144.0	123.0	131.0					1																	153659728		2203	4300	6503	SO:0001583	missense	4881			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1988C>T	1.37:g.153659728C>T	ENSP00000357669:p.Ser663Leu		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643496	0.87859	.	.	ENSG00000169418	ENST00000368680;ENST00000428723	T	0.62788	0.0	4.33	4.33	0.51752	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	T	0.77877	0.4196	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.989;0.999	T	0.82168	-0.0591	10	0.87932	D	0	.	14.7156	0.69265	0.0:1.0:0.0:0.0	.	142;663	B7Z4Y7;P16066	.;ANPRA_HUMAN	L	663;142	ENSP00000357669:S663L	ENSP00000357669:S663L	S	+	2	0	NPR1	151926352	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.550000	0.82173	2.404000	0.81709	0.455000	0.32223	TCA		0.542	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1		NM_000906	
NTRK3	4916	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	88423631	88423631	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr15:88423631C>T	ENST00000360948.2	-	18	2365	c.2204G>A	c.(2203-2205)cGc>cAc	p.R735H	NTRK3_ENST00000557856.1_Missense_Mutation_p.R713H|NTRK3_ENST00000355254.2_Missense_Mutation_p.R721H|NTRK3_ENST00000394480.2_Missense_Mutation_p.R721H|NTRK3_ENST00000357724.2_Missense_Mutation_p.R727H	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	735	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> F (in a lung large cell carcinoma sample; somatic mutation; requires 2 nucleotide substitutions).		activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R721H(2)|p.R735H(1)|p.R721F(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGGCATCCAGCGAATGGGGAG	0.507			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																														Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	4	Substitution - Missense(4)	lung(2)|kidney(2)											97.0	80.0	85.0					15																	88423631		2201	4299	6500	SO:0001583	missense	4916			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.2204G>A	15.37:g.88423631C>T	ENSP00000354207:p.Arg735His		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	32	5.177803	0.94846	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.49	5.49	0.81192	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91878	0.7429	M	0.82193	2.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.996;1.0	D	0.92789	0.6247	10	0.87932	D	0	.	17.9204	0.88964	0.0:1.0:0.0:0.0	.	713;721;735	B7Z4C5;Q16288-3;Q16288	.;.;NTRK3_HUMAN	H	721;735;727;721	ENSP00000377990:R721H;ENSP00000354207:R735H;ENSP00000350356:R727H;ENSP00000347397:R721H	ENSP00000347397:R721H	R	-	2	0	NTRK3	86224635	1.000000	0.71417	0.969000	0.41365	0.916000	0.54674	7.514000	0.81750	2.562000	0.86427	0.655000	0.94253	CGC		0.507	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				
OTOF	9381	broad.mit.edu	37	2	26717855	26717855	+	Silent	SNP	C	C	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr2:26717855C>T	ENST00000272371.2	-	9	978	c.852G>A	c.(850-852)aaG>aaA	p.K284K	OTOF_ENST00000403946.3_Silent_p.K284K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	284	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.K284K(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGATGTGTACTTCTTGTCGT	0.587																																					GBM(102;732 1451 20652 24062 31372)												1	Substitution - coding silent(1)	kidney(1)											127.0	108.0	115.0					2																	26717855		2203	4300	6503	SO:0001819	synonymous_variant	9381			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.852G>A	2.37:g.26717855C>T			B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	CCDS1725.1																																																																																				0.587	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			
PBRM1	55193	broad.mit.edu;ucsc.edu	37	3	52712615	52712615	+	Splice_Site	SNP	T	T	C			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr3:52712615T>C	ENST00000296302.7	-	2	140		c.e2-2		PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.?(3)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CACGGCAATCTACACATTAGC	0.393			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	3	Unknown(3)	kidney(3)											95.0	88.0	90.0					3																	52712615		2203	4300	6503	SO:0001630	splice_region_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.139-2A>G	3.37:g.52712615T>C			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Splice_Site	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	T	16.72	3.201234	0.58234	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000431678;ENST00000420148;ENST00000449505;ENST00000450271	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0658	0.71992	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52687655	1.000000	0.71417	0.977000	0.42913	0.679000	0.39708	7.403000	0.79983	1.968000	0.57251	0.377000	0.23210	.		0.393	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	Intron
PGPEP1L	145814	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	99512702	99512702	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr15:99512702C>T	ENST00000378919.6	-	4	528	c.323G>A	c.(322-324)cGc>cAc	p.R108H	PGPEP1L_ENST00000535714.1_Missense_Mutation_p.R54H|RP11-654A16.3_ENST00000559468.1_RNA	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	108							cysteine-type peptidase activity (GO:0008234)	p.R108H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						CACAGCTACGCGCTTGCAGAC	0.622																																																	1	Substitution - Missense(1)	kidney(1)											132.0	137.0	135.0					15																	99512702		2194	4296	6490	SO:0001583	missense	145814				CCDS53977.1, CCDS58400.1	15q26.3	2010-02-16			ENSG00000183571	ENSG00000183571			27080	protein-coding gene	gene with protein product							Standard	NM_001102612		Approved		uc002bum.3	A6NFU8		ENST00000378919.6:c.323G>A	15.37:g.99512702C>T	ENSP00000368199:p.Arg108His		H0YF86	Missense_Mutation	SNP	ENST00000378919.6	37	CCDS53977.1	.	.	.	.	.	.	.	.	.	.	C	9.925	1.213200	0.22289	.	.	ENSG00000183571	ENST00000378919;ENST00000535714	T	0.43294	0.95	4.48	-1.14	0.09741	.	1.245880	0.05663	N	0.587343	T	0.33498	0.0865	L	0.47016	1.485	0.09310	N	1	B	0.23316	0.083	B	0.21151	0.033	T	0.27262	-1.0079	10	0.41790	T	0.15	-19.663	4.9214	0.13871	0.1435:0.3433:0.0:0.5132	.	108	A6NFU8	PGPIL_HUMAN	H	108;101	ENSP00000368199:R108H	ENSP00000368199:R108H	R	-	2	0	PGPEP1L	97330225	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.129000	0.03244	-0.310000	0.08766	-0.797000	0.03246	CGC		0.622	PGPEP1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415703.1		NM_001102612.2	
PHF6	84295	broad.mit.edu;ucsc.edu	37	X	133551239	133551239	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chrX:133551239G>C	ENST00000332070.3	+	9	1077	c.875G>C	c.(874-876)tGt>tCt	p.C292S	PHF6_ENST00000370803.3_Missense_Mutation_p.C292S|PHF6_ENST00000370799.1_Missense_Mutation_p.C293S|PHF6_ENST00000394292.1_Missense_Mutation_p.C293S|PHF6_ENST00000416404.2_Missense_Mutation_p.C258S	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	292	Extended PHD2 domain (ePHD2).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.C292S(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					ACTATTGGATGTGAAATAAAA	0.353			"""F, N, Splice, Mis"""		ETP ALL																																Colon(100;666 1493 6344 21231 35807)			Rec	yes		X	Xq26.3	84295	PHD finger protein 6		L	2	Substitution - Missense(2)	kidney(2)											129.0	114.0	119.0					X																	133551239		2203	4299	6502	SO:0001583	missense	84295			AB058726	CCDS14639.1, CCDS14640.1	Xq26	2014-09-17			ENSG00000156531	ENSG00000156531		"""Zinc fingers, PHD-type"""	18145	protein-coding gene	gene with protein product	"""centromere protein 31"""	300414	"""Borjeson-Forssman-Lehmann syndrome"""	BFLS, BORJ		12415272, 15466013	Standard	NM_032335		Approved	KIAA1823, MGC14797, CENP-31	uc004exk.3	Q8IWS0	OTTHUMG00000022453	ENST00000332070.3:c.875G>C	X.37:g.133551239G>C	ENSP00000329097:p.Cys292Ser		A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Missense_Mutation	SNP	ENST00000332070.3	37	CCDS14639.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769052	0.90020	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000416404	D;D;D;D;D	0.98249	-4.82;-4.82;-4.82;-4.82;-4.82	5.92	5.92	0.95590	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);	0.040904	0.85682	N	0.000000	D	0.99223	0.9730	M	0.92970	3.365	0.80722	D	1	D;D;D	0.62365	0.991;0.991;0.991	D;D;D	0.76071	0.987;0.987;0.987	D	0.99250	1.0887	10	0.87932	D	0	-9.8618	18.0724	0.89413	0.0:0.0:1.0:0.0	.	258;292;293	B4E0G4;Q8IWS0;E9PC97	.;PHF6_HUMAN;.	S	292;292;293;293;258	ENSP00000359839:C292S;ENSP00000329097:C292S;ENSP00000377831:C293S;ENSP00000359835:C293S;ENSP00000394480:C258S	ENSP00000329097:C292S	C	+	2	0	PHF6	133378905	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.357000	0.97099	2.490000	0.84030	0.594000	0.82650	TGT		0.353	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058367.1		NM_032458	
PHLDB1	23187	broad.mit.edu;hgsc.bcm.edu	37	11	118484605	118484605	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr11:118484605G>T	ENST00000361417.2	+	3	465	c.54G>T	c.(52-54)atG>atT	p.M18I	PHLDB1_ENST00000356063.5_Missense_Mutation_p.M18I	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	18								p.M18I(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCCAGACCATGGTGCAGGTGA	0.547																																																	1	Substitution - Missense(1)	kidney(1)											54.0	45.0	48.0					11																	118484605		2200	4295	6495	SO:0001583	missense	23187				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.54G>T	11.37:g.118484605G>T	ENSP00000354498:p.Met18Ile		B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.501236	0.26861	.	.	ENSG00000019144	ENST00000361417;ENST00000543207;ENST00000545313;ENST00000356063	T;T	0.26518	1.73;1.73	5.8	2.51	0.30379	.	0.587434	0.18626	N	0.135730	T	0.04724	0.0128	N	0.00385	-1.57	0.31005	N	0.71989	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.36986	-0.9725	10	0.02654	T	1	-3.8511	5.1285	0.14897	0.1915:0.2528:0.5557:0.0	.	18;18;18	B4DIX4;Q86UU1-2;Q86UU1	.;.;PHLB1_HUMAN	I	18	ENSP00000354498:M18I;ENSP00000348359:M18I	ENSP00000348359:M18I	M	+	3	0	PHLDB1	117989815	0.988000	0.35896	0.986000	0.45419	0.470000	0.32858	0.510000	0.22723	1.420000	0.47138	0.655000	0.94253	ATG		0.547	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1		NM_015157	
PIWIL1	9271	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	130847573	130847573	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr12:130847573G>A	ENST00000245255.3	+	18	2351	c.2079G>A	c.(2077-2079)atG>atA	p.M693I		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	693	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.M693I(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ATGAGTACATGCCCAGCCGGA	0.498																																																	1	Substitution - Missense(1)	kidney(1)											112.0	110.0	111.0					12																	130847573		2203	4300	6503	SO:0001583	missense	9271			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.2079G>A	12.37:g.130847573G>A	ENSP00000245255:p.Met693Ile		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127571	0.56721	.	.	ENSG00000125207	ENST00000245255	T	0.29397	1.57	5.49	5.49	0.81192	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.050697	0.85682	D	0.000000	T	0.24586	0.0596	L	0.31065	0.9	0.41839	D	0.990113	B;B	0.22746	0.074;0.027	B;B	0.23852	0.049;0.026	T	0.05305	-1.0893	10	0.66056	D	0.02	0.4585	11.7856	0.52041	0.0801:0.0:0.9199:0.0	.	693;693	Q96J94;Q96J94-2	PIWL1_HUMAN;.	I	693	ENSP00000245255:M693I	ENSP00000245255:M693I	M	+	3	0	PIWIL1	129413526	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	4.537000	0.60643	2.578000	0.87016	0.467000	0.42956	ATG		0.498	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			
PLEC	5339	broad.mit.edu;ucsc.edu	37	8	144991673	144991673	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr8:144991673C>A	ENST00000322810.4	-	32	12896	c.12727G>T	c.(12727-12729)Gag>Tag	p.E4243*	PLEC_ENST00000398774.2_Nonsense_Mutation_p.E4074*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.E4129*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.E4133*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.E4110*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.E4106*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.E4084*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.E4092*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.E4106*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4243	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.E4243*(1)|p.E4133*(1)|p.E4106*(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ATACAACGCTCCATCAGCTGC	0.597																																																	3	Substitution - Nonsense(3)	kidney(3)											55.0	60.0	58.0					8																	144991673		2085	4216	6301	SO:0001587	stop_gained	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12727G>T	8.37:g.144991673C>A	ENSP00000323856:p.Glu4243*		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	54	22.160543	0.99946	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	5.14	4.26	0.50523	.	0.081026	0.46758	U	0.000274	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	15.4199	0.75003	0.0:0.8602:0.1398:0.0	.	.	.	.	X	4106;4110;4106;4074;4243;4084;4092;4133;4129	.	ENSP00000323856:E4243X	E	-	1	0	PLEC	145063661	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.796000	0.69080	1.373000	0.46208	0.549000	0.68633	GAG		0.597	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1		NM_000445	
PMFBP1	83449	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	72158692	72158692	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr16:72158692C>A	ENST00000537792.1	-	1	60	c.61G>T	c.(61-63)Gag>Tag	p.E21*	PMFBP1_ENST00000355636.6_Nonsense_Mutation_p.E710*|PMFBP1_ENST00000237353.10_Nonsense_Mutation_p.E855*|PMFBP1_ENST00000537465.1_Nonsense_Mutation_p.E860*			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	860						cytoplasm (GO:0005737)		p.E855*(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AGGAGGTTCTCTTTTAAGGCG	0.567											OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Nonsense(1)	kidney(1)											155.0	140.0	145.0					16																	72158692		2198	4300	6498	SO:0001587	stop_gained	83449			AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000537792.1:c.61G>T	16.37:g.72158692C>A	ENSP00000443366:p.Glu21*	1135	B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Nonsense_Mutation	SNP	ENST00000537792.1	37		.	.	.	.	.	.	.	.	.	.	C	40	7.912823	0.98557	.	.	ENSG00000118557	ENST00000537792;ENST00000537465;ENST00000237353;ENST00000355636	.	.	.	5.09	3.13	0.36017	.	0.563207	0.16261	N	0.222234	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-9.8509	6.7255	0.23355	0.0:0.7259:0.1795:0.0945	.	.	.	.	X	21;860;855;710	.	ENSP00000237353:E855X	E	-	1	0	PMFBP1	70716193	0.981000	0.34729	0.696000	0.30242	0.028000	0.11728	0.866000	0.27954	0.719000	0.32188	-0.176000	0.13171	GAG		0.567	PMFBP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000396523.1		NM_031293	
POMZP3	22932	broad.mit.edu	37	7	76247559	76247559	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr7:76247559G>T	ENST00000310842.4	-	4	970	c.286C>A	c.(286-288)Cca>Aca	p.P96T	UPK3B_ENST00000443097.2_Intron|AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000419923.2_Intron|POMZP3_ENST00000275569.4_Missense_Mutation_p.P96T	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	96								p.P96T(2)		kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				AGTGTATCTGGCCCGGGTCGA	0.488																																																	2	Substitution - Missense(2)	kidney(2)											10.0	13.0	12.0					7																	76247559		2144	4167	6311	SO:0001583	missense	22932			U10099	CCDS5590.1, CCDS43606.1	7q11.2	2010-06-24	2010-06-24		ENSG00000146707	ENSG00000146707			9203	protein-coding gene	gene with protein product	"""POM-ZP3 fusion protein"", ""POM121/ZP3 fusion protein"""	600587	"""POM (POM121 rat homolog) and ZP3 fusion"", ""POM (POM121 homolog, rat) and ZP3 fusion"""			7789967	Standard	NM_012230		Approved	POM-ZP3, POM121	uc003uft.3	Q6PJE2	OTTHUMG00000023514	ENST00000310842.4:c.286C>A	7.37:g.76247559G>T	ENSP00000309233:p.Pro96Thr		F6STJ3|Q12903|Q9BWB4	Missense_Mutation	SNP	ENST00000310842.4	37	CCDS43606.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	7.656|7.656	0.683865|0.683865	0.14907|0.14907	.|.	.|.	ENSG00000146707|ENSG00000146707	ENST00000441393|ENST00000275569;ENST00000310842;ENST00000454397	.|T;T	.|0.81330	.|-1.48;-1.48	.|.	.|.	.|.	.|Zona pellucida sperm-binding protein (1);	.|0.308349	.|0.32314	.|U	.|0.006275	D|D	0.85191|0.85191	0.5640|0.5640	M|M	0.66506|0.66506	2.035|2.035	0.22961|0.22961	N|N	0.9985|0.9985	.|D	.|0.76494	.|0.999	.|D	.|0.72982	.|0.979	T|T	0.75054|0.75054	-0.3453|-0.3453	3|8	.|0.87932	.|D	.|0	.|.	.|.	.|.	.|.	.|.	.|96	.|Q6PJE2	.|POZP3_HUMAN	D|T	20|96;96;201	.|ENSP00000309233:P96T;ENSP00000405319:P201T	.|ENSP00000275569:P96T	A|P	-|-	2|1	0|0	POMZP3|POMZP3	76085495|76085495	0.983000|0.983000	0.35010|0.35010	0.499000|0.499000	0.27577|0.27577	0.461000|0.461000	0.32589|0.32589	0.677000|0.677000	0.25262|0.25262	0.392000|0.392000	0.25172|0.25172	0.391000|0.391000	0.25812|0.25812	GCC|CCA		0.488	POMZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341775.1		NM_012230	
RAB18	22931	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	27822869	27822869	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr10:27822869G>C	ENST00000356940.6	+	6	493	c.391G>C	c.(391-393)Gtc>Ctc	p.V131L	RAB18_ENST00000375802.3_Missense_Mutation_p.V86L|RAB18_ENST00000465772.1_Intron|RAB18_ENST00000535776.1_Missense_Mutation_p.V67L	NM_001256410.1|NM_001256415.1|NM_021252.4	NP_001243339.1|NP_001243344.1|NP_067075.1	Q9NP72	RAB18_HUMAN	RAB18, member RAS oncogene family	131					brain development (GO:0007420)|endoplasmic reticulum tubular network organization (GO:0071786)|eye development (GO:0001654)|GTP catabolic process (GO:0006184)|lipid particle organization (GO:0034389)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.V131L(1)		kidney(1)|large_intestine(1)|lung(1)	3						AAATCGTGAAGTCGATAGAAA	0.328																																																	1	Substitution - Missense(1)	kidney(1)											169.0	170.0	170.0					10																	27822869		2203	4300	6503	SO:0001583	missense	22931			AJ277145	CCDS7155.1, CCDS58073.1, CCDS73080.1, CCDS73081.1	10p12	2011-03-07			ENSG00000099246	ENSG00000099246		"""RAB, member RAS oncogene"""	14244	protein-coding gene	gene with protein product		602207				10648831	Standard	NM_021252		Approved		uc001itw.4	Q9NP72	OTTHUMG00000017861	ENST00000356940.6:c.391G>C	10.37:g.27822869G>C	ENSP00000349415:p.Val131Leu		B3KMC7|B7Z333|D3DRW1|Q53FX8|Q56UN9|Q6FIH1	Missense_Mutation	SNP	ENST00000356940.6	37	CCDS7155.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.6|21.6	4.169207|4.169207	0.78339|0.78339	.|.	.|.	ENSG00000099246|ENSG00000099246	ENST00000423465|ENST00000356940;ENST00000535776;ENST00000540268;ENST00000375802	.|D;D;D	.|0.82893	.|-1.66;-1.66;-1.66	5.69|5.69	5.69|5.69	0.88448|0.88448	.|Small GTP-binding protein domain (1);	.|.	.|.	.|.	.|.	D|D	0.86623|0.86623	0.5977|0.5977	M|M	0.89414|0.89414	3.03|3.03	0.80722|0.80722	D|D	1|1	.|D;B;B	.|0.54397	.|0.966;0.208;0.382	.|B;B;B	.|0.41271	.|0.352;0.246;0.311	D|D	0.89775|0.89775	0.3957|0.3957	5|9	.|0.72032	.|D	.|0.01	.|.	18.7949|18.7949	0.91990|0.91990	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|67;160;131	.|B7Z333;Q56UN9;Q9NP72	.|.;.;RAB18_HUMAN	T|L	243|131;67;109;86	.|ENSP00000349415:V131L;ENSP00000439321:V67L;ENSP00000364960:V86L	.|ENSP00000349415:V131L	S|V	+|+	2|1	0|0	RAB18|RAB18	27862875|27862875	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.967000|0.967000	0.64934|0.64934	5.040000|5.040000	0.64191|0.64191	2.672000|2.672000	0.90937|0.90937	0.650000|0.650000	0.86243|0.86243	AGT|GTC		0.328	RAB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047326.2		NM_021252	
REG1P	5969	broad.mit.edu	37	2	79363961	79363961	+	RNA	SNP	G	G	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr2:79363961G>A	ENST00000444841.1	-	0	377									regenerating islet-derived 1 pseudogene																		TATCCTTGGTGCCACTCTCTT	0.522																																																	0																																												5969					2p12	2008-06-04	2008-06-04	2008-06-04	ENSG00000204787	ENSG00000204787			9953	pseudogene	pseudogene			"""rat regenerating islet-derived-like, human homolog (pancreatic stone protein-like, pancreatic thread protein-like)"", ""regenerating islet-derived-like, pancreatic stone protein-like, pancreatic thread protein-like (rat)"""	REGL		8333731	Standard	NR_002714		Approved	RS	uc002soc.1		OTTHUMG00000152978		2.37:g.79363961G>A				RNA	SNP	ENST00000444841.1	37																																																																																					0.522	REG1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328851.1		NR_002714	
RGS9	8787	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	63154436	63154436	+	Missense_Mutation	SNP	G	G	T	rs115440141	byFrequency	TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr17:63154436G>T	ENST00000262406.9	+	3	245	c.178G>T	c.(178-180)Gtc>Ttc	p.V60F	RGS9_ENST00000443584.3_Missense_Mutation_p.V60F|RGS9_ENST00000577186.1_3'UTR|RGS9_ENST00000449996.3_Missense_Mutation_p.V60F	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	60	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.V60F(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GCAATGGATCGTCCAGCGGCT	0.502																																																	1	Substitution - Missense(1)	kidney(1)											239.0	255.0	249.0					17																	63154436		2074	4199	6273	SO:0001583	missense	8787			AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.178G>T	17.37:g.63154436G>T	ENSP00000262406:p.Val60Phe		A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	G	5.749	0.322690	0.10900	.	.	ENSG00000108370	ENST00000262406;ENST00000449996;ENST00000443584	T;T;T	0.23950	1.88;1.88;1.88	5.37	-8.01	0.01122	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	2.014360	0.02009	N	0.046841	T	0.17746	0.0426	N	0.17082	0.46	0.09310	N	1	B;B;B	0.31611	0.24;0.331;0.284	B;B;B	0.37601	0.102;0.254;0.105	T	0.37641	-0.9697	10	0.72032	D	0.01	.	9.1003	0.36664	0.4667:0.0:0.4365:0.0968	.	60;60;60	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	F	60	ENSP00000262406:V60F;ENSP00000396329:V60F;ENSP00000405814:V60F	ENSP00000262406:V60F	V	+	1	0	RGS9	60584898	0.000000	0.05858	0.009000	0.14445	0.389000	0.30415	-1.241000	0.02911	-1.591000	0.01621	-1.887000	0.00540	GTC		0.502	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1		NM_003835	
RPS4Y1	6192	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	Y	2709666	2709666	+	Start_Codon_SNP	SNP	A	A	G			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chrY:2709666A>G	ENST00000250784.8	+	1	140	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_001008.3	NP_000999.1	P22090	RS4Y1_HUMAN	ribosomal protein S4, Y-linked 1	1					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.M1V(1)		kidney(1)|lung(2)	3						GAGTTTCGCCATGGTAAGACC	0.473																																					Melanoma(193;1927 2965 17170 18413)												1	Substitution - Missense(1)	kidney(1)											74.0	79.0	78.0					Y																	2709666		602	1934	2536	SO:0001582	initiator_codon_variant	6192				CCDS14773.1	Yp11.3	2011-04-05	2004-05-21	2004-05-26	ENSG00000129824	ENSG00000129824		"""S ribosomal proteins"""	10425	protein-coding gene	gene with protein product	"""ribosomal protein S4Y"", ""40S ribosomal protein S4, Y"""	470000	"""ribosomal protein S4, Y-linked"""	RPS4Y			Standard	NM_001008		Approved	MGC5070, MGC119100, S4	uc004fqi.3	P22090	OTTHUMG00000036152	ENST00000250784.8:c.1A>G	Y.37:g.2709666A>G	ENSP00000250784:p.Met1Val		A8K9V4	Missense_Mutation	SNP	ENST00000250784.8	37	CCDS14773.1																																																																																				0.473	RPS4Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088052.2		NM_001008	Missense_Mutation
RQCD1	9125	hgsc.bcm.edu;ucsc.edu	37	2	219447710	219447710	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr2:219447710delA	ENST00000273064.6	+	3	596	c.221delA	c.(220-222)tatfs	p.Y74fs	RQCD1_ENST00000542068.1_Frame_Shift_Del_p.Y74fs|RQCD1_ENST00000295701.5_Frame_Shift_Del_p.Y74fs|RQCD1_ENST00000509807.2_Frame_Shift_Del_p.Y74fs	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	74					cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTAAATATTTATCCATCTATC	0.358																																																	0													109.0	100.0	103.0					2																	219447710		2203	4300	6503	SO:0001589	frameshift_variant	9125			D87957	CCDS33379.1, CCDS63123.1	2q35	2010-04-23	2001-11-28		ENSG00000144580	ENSG00000144580			10445	protein-coding gene	gene with protein product	"""cancer/testis antigen 129"""	612054	"""rcd1 (required for cell differentiation, S.pombe) homolog 1"""			9447985	Standard	NM_001271634		Approved	RCD1, RCD1+, CNOT9, CT129	uc010zki.3	Q92600	OTTHUMG00000154750	ENST00000273064.6:c.221delA	2.37:g.219447710delA	ENSP00000273064:p.Tyr74fs		B2RPI0|B5MDQ4|B7Z1E5|Q96IX4	Frame_Shift_Del	DEL	ENST00000273064.6	37	CCDS33379.1																																																																																				0.358	RQCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336920.1		NM_005444	
RQCD1	9125	hgsc.bcm.edu	37	2	219447712	219447712	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr2:219447712C>T	ENST00000273064.6	+	3	598	c.223C>T	c.(223-225)Cca>Tca	p.P75S	RQCD1_ENST00000542068.1_Missense_Mutation_p.P75S|RQCD1_ENST00000295701.5_Missense_Mutation_p.P75S|RQCD1_ENST00000509807.2_Missense_Mutation_p.P75S	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	75					cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAATATTTATCCATCTATCAA	0.348																																																	0													113.0	103.0	106.0					2																	219447712		2203	4300	6503	SO:0001583	missense	9125			D87957	CCDS33379.1, CCDS63123.1	2q35	2010-04-23	2001-11-28		ENSG00000144580	ENSG00000144580			10445	protein-coding gene	gene with protein product	"""cancer/testis antigen 129"""	612054	"""rcd1 (required for cell differentiation, S.pombe) homolog 1"""			9447985	Standard	NM_001271634		Approved	RCD1, RCD1+, CNOT9, CT129	uc010zki.3	Q92600	OTTHUMG00000154750	ENST00000273064.6:c.223C>T	2.37:g.219447712C>T	ENSP00000273064:p.Pro75Ser		B2RPI0|B5MDQ4|B7Z1E5|Q96IX4	Missense_Mutation	SNP	ENST00000273064.6	37	CCDS33379.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.007691	0.75046	.	.	ENSG00000144580	ENST00000273064;ENST00000509807;ENST00000542068;ENST00000295701	T;T;T;T	0.49432	0.89;0.78;0.89;0.89	6.08	6.08	0.98989	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.66076	0.2753	M	0.83483	2.645	0.80722	D	1	B;B;P	0.49696	0.097;0.016;0.927	B;B;P	0.51016	0.219;0.07;0.656	T	0.67248	-0.5718	10	0.51188	T	0.08	-5.9433	20.6634	0.99662	0.0:1.0:0.0:0.0	.	75;75;75	B7Z1E5;Q92600;B5MDQ4	.;RCD1_HUMAN;.	S	75	ENSP00000273064:P75S;ENSP00000441357:P75S;ENSP00000443687:P75S;ENSP00000295701:P75S	ENSP00000273064:P75S	P	+	1	0	RQCD1	219155956	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	CCA		0.348	RQCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336920.1		NM_005444	
RTL1	388015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	101350371	101350371	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr14:101350371C>T	ENST00000534062.1	-	1	813	c.755G>A	c.(754-756)tGg>tAg	p.W252*	MIR136_ENST00000385207.1_RNA|MIR433_ENST00000384837.1_RNA|MIR432_ENST00000606207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	252					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)		p.W252*(1)		breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						AGCTTTGGCCCATTCTAATGC	0.532																																																	1	Substitution - Nonsense(1)	kidney(1)											109.0	94.0	98.0					14																	101350371		692	1591	2283	SO:0001587	stop_gained	388015				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.755G>A	14.37:g.101350371C>T	ENSP00000435342:p.Trp252*		E9PKS8	Nonsense_Mutation	SNP	ENST00000534062.1	37	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	C	36	5.652866	0.96724	.	.	ENSG00000254656	ENST00000534062	.	.	.	3.41	3.41	0.39046	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1232	0.59338	0.0:1.0:0.0:0.0	.	.	.	.	X	252	.	ENSP00000435342:W252X	W	-	2	0	RTL1	100420124	1.000000	0.71417	0.990000	0.47175	0.855000	0.48748	4.412000	0.59787	2.210000	0.71456	0.555000	0.69702	TGG		0.532	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1		NM_001134888	
RUFY4	285180	hgsc.bcm.edu	37	2	218935328	218935328	+	De_novo_Start_InFrame	SNP	C	C	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr2:218935328C>A	ENST00000344321.7	+	0	518				RUFY4_ENST00000441828.2_De_novo_Start_InFrame|RUFY4_ENST00000374155.3_De_novo_Start_InFrame	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4								metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCCAAGTACCCATGGCAGAAG	0.532																																																	0													81.0	80.0	81.0					2																	218935328		692	1591	2283			285180			AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"""Zinc fingers, FYVE domain containing"""	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235		2.37:g.218935328C>A			Q6ZR96	RNA	SNP	ENST00000344321.7	37																																																																																					0.532	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_198483	
RYR1	6261	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39028524	39028524	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr19:39028524G>C	ENST00000359596.3	+	84	11613	c.11613G>C	c.(11611-11613)gaG>gaC	p.E3871D	AC067969.2_ENST00000595853.1_RNA|RYR1_ENST00000355481.4_Missense_Mutation_p.E3866D|RYR1_ENST00000360985.3_Missense_Mutation_p.E3866D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3871					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|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)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.E3871D(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ACCTAGGAGAGAAGGTCATGG	0.577																																																	1	Substitution - Missense(1)	kidney(1)											171.0	132.0	145.0					19																	39028524		2203	4300	6503	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.11613G>C	19.37:g.39028524G>C	ENSP00000352608:p.Glu3871Asp		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	10.45	1.353993	0.24512	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.95342	-3.68;-3.68;-3.68	4.85	2.75	0.32379	.	0.000000	0.64402	U	0.000003	D	0.92306	0.7559	M	0.73962	2.25	0.40361	D	0.979242	B;B;B	0.17268	0.021;0.004;0.005	B;B;B	0.16722	0.013;0.009;0.016	D	0.90334	0.4354	10	0.54805	T	0.06	.	8.0837	0.30760	0.2551:0.0:0.7449:0.0	.	3866;3866;3871	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	D	3871;3866;3866	ENSP00000352608:E3871D;ENSP00000347667:E3866D;ENSP00000354254:E3866D	ENSP00000347667:E3866D	E	+	3	2	RYR1	43720364	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.252000	0.32874	1.426000	0.47256	0.546000	0.68486	GAG		0.577	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			
SDR16C5	195814	broad.mit.edu;ucsc.edu	37	8	57228627	57228627	+	Missense_Mutation	SNP	C	C	G	rs371326324		TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr8:57228627C>G	ENST00000303749.3	-	2	917	c.280G>C	c.(280-282)Gcc>Ccc	p.A94P	SDR16C5_ENST00000396721.2_Missense_Mutation_p.A94P|SDR16C5_ENST00000522671.1_Missense_Mutation_p.A94P	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	94					detection of light stimulus involved in visual perception (GO:0050908)|keratinocyte proliferation (GO:0043616)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	retinol dehydrogenase activity (GO:0004745)	p.A94P(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						CAGGTATAGGCGTGCACTCTT	0.468																																																	1	Substitution - Missense(1)	kidney(1)											119.0	122.0	121.0					8																	57228627		2203	4300	6503	SO:0001583	missense	195814				CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	30311	protein-coding gene	gene with protein product		608989				12372410	Standard	NM_138969		Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000303749.3:c.280G>C	8.37:g.57228627C>G	ENSP00000307607:p.Ala94Pro		B4DGK2|Q330K3|Q8TDV9|Q96LX1	Missense_Mutation	SNP	ENST00000303749.3	37	CCDS6167.1	.	.	.	.	.	.	.	.	.	.	C	9.469	1.095172	0.20471	.	.	ENSG00000170786	ENST00000396721;ENST00000303749;ENST00000522671;ENST00000538514	D;D;D	0.88124	-2.34;-2.34;-2.34	5.14	1.86	0.25419	NAD(P)-binding domain (1);	0.462530	0.24833	N	0.035226	T	0.80210	0.4581	L	0.45352	1.415	0.33105	D	0.539745	B;B;B	0.28470	0.213;0.179;0.033	B;B;B	0.30646	0.111;0.118;0.088	T	0.77354	-0.2619	10	0.38643	T	0.18	.	7.5057	0.27542	0.1297:0.634:0.0:0.2364	.	94;94;94	Q8N3Y7-2;G3V145;Q8N3Y7	.;.;RDHE2_HUMAN	P	94	ENSP00000379947:A94P;ENSP00000307607:A94P;ENSP00000431010:A94P	ENSP00000307607:A94P	A	-	1	0	SDR16C5	57391181	0.012000	0.17670	0.527000	0.27925	0.352000	0.29268	-0.202000	0.09451	0.574000	0.29417	0.563000	0.77884	GCC		0.468	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378235.1		NM_138969	
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47144880	47144880	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr3:47144880G>A	ENST00000409792.3	-	7	4915	c.4873C>T	c.(4873-4875)Cgt>Tgt	p.R1625C		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1625	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.R1122C(1)|p.R1625C(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTCATGAAACGAGAGCAATTT	0.348			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Missense(2)	kidney(2)											165.0	153.0	157.0					3																	47144880		2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4873C>T	3.37:g.47144880G>A	ENSP00000386759:p.Arg1625Cys		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006118	0.93287	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.86097	-2.07	5.83	5.83	0.93111	SET domain (3);	0.000000	0.53938	D	0.000046	D	0.96430	0.8835	H	0.99719	4.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98095	1.0411	10	0.87932	D	0	.	18.2989	0.90157	0.0:0.0:1.0:0.0	.	1625;1625	F2Z317;Q9BYW2	.;SETD2_HUMAN	C	1625	ENSP00000386759:R1625C	ENSP00000386759:R1625C	R	-	1	0	SETD2	47119884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.400000	0.97290	2.775000	0.95449	0.650000	0.86243	CGT		0.348	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159	
SGPL1	8879	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	72631655	72631655	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr10:72631655T>C	ENST00000373202.3	+	11	1171	c.971T>C	c.(970-972)gTc>gCc	p.V324A		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	324					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)	p.V324A(1)		large_intestine(4)	4						TTCCTCATCGTCTTTATGGAG	0.448																																					Colon(151;1054 2458 6676 40971)												1	Substitution - Missense(1)	kidney(1)											131.0	123.0	126.0					10																	72631655		2203	4300	6503	SO:0001583	missense	8879			AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.971T>C	10.37:g.72631655T>C	ENSP00000362298:p.Val324Ala		B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Missense_Mutation	SNP	ENST00000373202.3	37	CCDS31216.1	.	.	.	.	.	.	.	.	.	.	T	12.79	2.044360	0.36085	.	.	ENSG00000166224	ENST00000373202	T	0.38887	1.11	6.17	3.9	0.45041	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.157431	0.56097	D	0.000027	T	0.20901	0.0503	N	0.05230	-0.09	0.53688	D	0.999974	B	0.06786	0.001	B	0.14023	0.01	T	0.06752	-1.0809	10	0.23302	T	0.38	-22.2249	11.0497	0.47880	0.0:0.147:0.0:0.853	.	324	O95470	SGPL1_HUMAN	A	324	ENSP00000362298:V324A	ENSP00000362298:V324A	V	+	2	0	SGPL1	72301661	1.000000	0.71417	0.994000	0.49952	0.947000	0.59692	1.653000	0.37323	2.371000	0.80710	0.533000	0.62120	GTC		0.448	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048533.1		NM_003901	
SLFN14	342618	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	33884519	33884519	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr17:33884519G>A	ENST00000415846.3	-	1	598	c.563C>T	c.(562-564)tCa>tTa	p.S188L	RP11-1094M14.12_ENST00000588445.1_RNA	NM_001129820.1	NP_001123292.1	P0C7P3	SLN14_HUMAN	schlafen family member 14	188							ATP binding (GO:0005524)	p.S188L(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(3)	9						AAAAAATTCTGAGGCCAATAT	0.378																																																	1	Substitution - Missense(1)	kidney(1)											79.0	60.0	66.0					17																	33884519		692	1591	2283	SO:0001583	missense	342618				CCDS45650.1	17q12	2009-09-22				ENSG00000236320			32689	protein-coding gene	gene with protein product		614958				9846487	Standard	NM_001129820		Approved		uc010ctu.1	P0C7P3		ENST00000415846.3:c.563C>T	17.37:g.33884519G>A	ENSP00000391101:p.Ser188Leu		B2RTW9	Missense_Mutation	SNP	ENST00000415846.3	37	CCDS45650.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.762528	0.00651	.	.	ENSG00000236320	ENST00000415846	T	0.01787	4.64	4.24	0.502	0.16932	.	.	.	.	.	T	0.01353	0.0044	N	0.25647	0.755	0.09310	N	0.999999	B	0.10296	0.003	B	0.10450	0.005	T	0.49418	-0.8942	9	0.11182	T	0.66	-0.1385	6.5234	0.22287	0.3581:0.0:0.6419:0.0	.	188	P0C7P3	SLN14_HUMAN	L	188	ENSP00000391101:S188L	ENSP00000391101:S188L	S	-	2	0	SLFN14	30908632	0.001000	0.12720	0.137000	0.22149	0.015000	0.08874	0.408000	0.21065	0.019000	0.15079	0.655000	0.94253	TCA		0.378	SLFN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448928.1		NM_001129820	
STXBP2	6813	broad.mit.edu;ucsc.edu	37	19	7712373	7712373	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr19:7712373G>A	ENST00000221283.5	+	18	1703	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	STXBP2_ENST00000441779.2_Missense_Mutation_p.E569K|STXBP2_ENST00000602355.1_Missense_Mutation_p.E93K|STXBP2_ENST00000414284.2_Missense_Mutation_p.E555K	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	558					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)	p.E558K(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CAGGGCCACCGAGGGCAAGTG	0.647																																																	1	Substitution - Missense(1)	kidney(1)											21.0	22.0	22.0					19																	7712373		2196	4295	6491	SO:0001583	missense	6813			U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.1672G>A	19.37:g.7712373G>A	ENSP00000221283:p.Glu558Lys		B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	ENST00000221283.5	37	CCDS12181.1	.	.	.	.	.	.	.	.	.	.	G	7.473	0.647165	0.14516	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	T;T;T	0.78003	-1.14;-1.14;-1.14	5.26	3.08	0.35506	.	0.497156	0.21440	N	0.074507	T	0.47930	0.1472	N	0.02751	-0.505	0.34273	D	0.681274	B;B;B;B	0.09022	0.002;0.001;0.0;0.0	B;B;B;B	0.10450	0.005;0.001;0.0;0.001	T	0.51568	-0.8689	10	0.02654	T	1	-7.9362	9.3607	0.38195	0.082:0.1445:0.7735:0.0	.	569;524;555;558	E7EQD5;B4DY46;Q15833-2;Q15833	.;.;.;STXB2_HUMAN	K	558;555;569;558	ENSP00000221283:E558K;ENSP00000409471:E555K;ENSP00000413606:E569K	ENSP00000221283:E558K	E	+	1	0	STXBP2	7618373	1.000000	0.71417	0.154000	0.22540	0.990000	0.78478	4.719000	0.61937	1.220000	0.43490	0.555000	0.69702	GAG		0.647	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1		NM_006949	
SUV39H2	79723	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	14941677	14941677	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr10:14941677A>G	ENST00000354919.6	+	4	989	c.989A>G	c.(988-990)aAt>aGt	p.N330S	SUV39H2_ENST00000313519.5_Missense_Mutation_p.N270S|SUV39H2_ENST00000378325.3_Missense_Mutation_p.N150S|DCLRE1C_ENST00000378289.4_Intron	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	330	S-adenosyl-L-methionine binding.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.N270S(1)|p.N330S(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						CATTTTGTGAATCACAGCGTA	0.373																																																	2	Substitution - Missense(2)	kidney(2)											152.0	136.0	142.0					10																	14941677		2203	4300	6503	SO:0001583	missense	79723			AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"""Chromatin-modifying enzymes / K-methyltransferases"""	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.989A>G	10.37:g.14941677A>G	ENSP00000346997:p.Asn330Ser		D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Missense_Mutation	SNP	ENST00000354919.6	37	CCDS53494.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.7|27.7	4.857393|4.857393	0.91433|0.91433	.|.	.|.	ENSG00000152455|ENSG00000152455	ENST00000358298|ENST00000433779;ENST00000378325;ENST00000354919;ENST00000313519	.|D;D;D;D	.|0.95137	.|-3.62;-3.62;-3.62;-3.62	5.73|5.73	5.73|5.73	0.89815|0.89815	.|SET domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98324|0.98324	0.9444|0.9444	H|H	0.97587|0.97587	4.035|4.035	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.999	D|D	0.99675|0.99675	1.0997|1.0997	5|10	.|0.87932	.|D	.|0	.|.	15.507|15.507	0.75748|0.75748	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|330;150	.|Q9H5I1;Q9H5I1-3	.|SUV92_HUMAN;.	V|S	96|90;150;330;270	.|ENSP00000388968:N90S;ENSP00000367576:N150S;ENSP00000346997:N330S;ENSP00000319208:N270S	.|ENSP00000319208:N270S	I|N	+|+	1|2	0|0	SUV39H2|SUV39H2	14981683|14981683	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.287000|9.287000	0.95975|0.95975	2.313000|2.313000	0.78055|0.78055	0.455000|0.455000	0.32223|0.32223	ATC|AAT		0.373	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2		NM_024670	
SYNE1	23345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	152565703	152565703	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr6:152565703T>C	ENST00000367255.5	-	106	20262	c.19661A>G	c.(19660-19662)cAg>cGg	p.Q6554R	SYNE1_ENST00000423061.1_Missense_Mutation_p.Q6483R|SYNE1_ENST00000356820.4_Missense_Mutation_p.Q1078R|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q6166R|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q6554R|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q6483R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6554					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.Q6554R(2)|p.Q6483R(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CATGGACGGCTGCTCGACCTG	0.453										HNSCC(10;0.0054)																																							3	Substitution - Missense(3)	kidney(3)											169.0	152.0	158.0					6																	152565703		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.19661A>G	6.37:g.152565703T>C	ENSP00000356224:p.Gln6554Arg		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	14.80	2.644136	0.47258	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.56611	0.54;0.53;0.45;0.53;0.66;2.56	5.76	4.58	0.56647	.	0.107046	0.41396	D	0.000889	T	0.56202	0.1969	M	0.71581	2.175	0.53688	D	0.999978	D;D;D	0.71674	0.998;0.998;0.992	D;D;D	0.65987	0.94;0.94;0.936	T	0.56547	-0.7961	10	0.22706	T	0.39	.	12.9355	0.58311	0.0:0.0:0.1355:0.8645	.	6554;6554;6483	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	R	6554;6483;6554;6483;6166;1078	ENSP00000356224:Q6554R;ENSP00000396024:Q6483R;ENSP00000265368:Q6554R;ENSP00000390975:Q6483R;ENSP00000341887:Q6166R;ENSP00000349276:Q1078R	ENSP00000265368:Q6554R	Q	-	2	0	SYNE1	152607396	0.995000	0.38212	0.856000	0.33681	0.902000	0.53008	2.139000	0.42149	0.980000	0.38523	0.482000	0.46254	CAG		0.453	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961	
TAS2R8	50836	broad.mit.edu	37	12	10959049	10959049	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr12:10959049T>C	ENST00000240615.2	-	1	843	c.531A>G	c.(529-531)atA>atG	p.I177M		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	177					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.I177M(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CAAAGTATGGTATTTTACTCA	0.338																																																	1	Substitution - Missense(1)	kidney(1)											154.0	137.0	143.0					12																	10959049		2203	4300	6503	SO:0001583	missense	50836			AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.531A>G	12.37:g.10959049T>C	ENSP00000240615:p.Ile177Met		Q4KN29|Q645Y2	Missense_Mutation	SNP	ENST00000240615.2	37	CCDS8632.1	.	.	.	.	.	.	.	.	.	.	t	7.491	0.650638	0.14516	.	.	ENSG00000121314	ENST00000240615	T	0.38560	1.13	4.92	-7.12	0.01537	GPCR, rhodopsin-like superfamily (1);	2.633900	0.02156	N	0.058372	T	0.22205	0.0535	N	0.12637	0.245	0.09310	N	1	B	0.09022	0.002	B	0.19148	0.024	T	0.19192	-1.0313	10	0.36615	T	0.2	.	6.3823	0.21542	0.2812:0.3206:0.0:0.3981	.	177	Q9NYW2	TA2R8_HUMAN	M	177	ENSP00000240615:I177M	ENSP00000240615:I177M	I	-	3	3	TAS2R8	10850316	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.278000	0.08490	-0.686000	0.05170	-1.723000	0.00705	ATA		0.338	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399932.1			
TG	7038	broad.mit.edu;ucsc.edu	37	8	134107431	134107431	+	Silent	SNP	C	C	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr8:134107431C>A	ENST00000220616.4	+	42	7423	c.7383C>A	c.(7381-7383)gtC>gtA	p.V2461V	TG_ENST00000542445.1_Silent_p.V831V|TG_ENST00000377869.1_Silent_p.V2404V|TG_ENST00000519543.1_Silent_p.V594V|SLA_ENST00000518565.1_Intron|SLA_ENST00000395352.3_Intron|SLA_ENST00000517648.1_Intron|SLA_ENST00000524345.1_Intron|SLA_ENST00000338087.5_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2461					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.V2461V(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTGCCAATGTCCTCAATGATG	0.517																																																	1	Substitution - coding silent(1)	kidney(1)											158.0	134.0	142.0					8																	134107431		2203	4300	6503	SO:0001819	synonymous_variant	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7383C>A	8.37:g.134107431C>A			O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	1.885	-0.456827	0.04540	.	.	ENSG00000042832	ENST00000519178	.	.	.	6.07	4.22	0.49857	.	.	.	.	.	T	0.57814	0.2079	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53344	-0.8452	4	.	.	.	.	7.664	0.28419	0.0:0.7462:0.1655:0.0883	.	.	.	.	T	917	.	.	P	+	1	0	TG	134176613	0.001000	0.12720	0.781000	0.31783	0.231000	0.25187	-0.408000	0.07169	0.828000	0.34709	0.655000	0.94253	CCT		0.517	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1		NM_003235	
TMOD2	29767	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	52098676	52098676	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr15:52098676C>T	ENST00000249700.4	+	9	1200	c.979C>T	c.(979-981)Cga>Tga	p.R327*	TMOD2_ENST00000539962.2_Nonsense_Mutation_p.R283*|TMOD2_ENST00000435126.2_Nonsense_Mutation_p.R291*	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	327					learning or memory (GO:0007611)|nervous system development (GO:0007399)|neuron-neuron synaptic transmission (GO:0007270)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)	tropomyosin binding (GO:0005523)	p.R327*(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		GCAAGGGCCACGAACAAGGGT	0.453																																																	2	Substitution - Nonsense(2)	large_intestine(1)|kidney(1)											99.0	90.0	93.0					15																	52098676		2195	4293	6488	SO:0001587	stop_gained	29767			AF177169	CCDS10144.1, CCDS45260.1	15q21.2	2008-05-14			ENSG00000128872	ENSG00000128872			11872	protein-coding gene	gene with protein product		602928				10662549	Standard	NM_014548		Approved	NTMOD	uc002abk.3	Q9NZR1	OTTHUMG00000131805	ENST00000249700.4:c.979C>T	15.37:g.52098676C>T	ENSP00000249700:p.Arg327*		B4DEW6	Nonsense_Mutation	SNP	ENST00000249700.4	37	CCDS10144.1	.	.	.	.	.	.	.	.	.	.	C	37	6.075348	0.97262	.	.	ENSG00000128872	ENST00000435126;ENST00000249700;ENST00000539962	.	.	.	5.34	2.1	0.27182	.	0.133842	0.49916	D	0.000129	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9906	10.0469	0.42192	0.4153:0.4883:0.0963:0.0	.	.	.	.	X	291;327;283	.	ENSP00000249700:R327X	R	+	1	2	TMOD2	49885968	0.997000	0.39634	0.997000	0.53966	0.999000	0.98932	1.240000	0.32731	0.758000	0.33059	0.655000	0.94253	CGA		0.453	TMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254742.2			
TP53INP1	94241	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	95952145	95952145	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr8:95952145G>T	ENST00000342697.4	-	3	823	c.416C>A	c.(415-417)cCt>cAt	p.P139H	NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_Missense_Mutation_p.P139H|TP53INP1_ENST00000378776.4_Missense_Mutation_p.P139H	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	139					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)	p.P139H(1)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					ACTGAGACCAGGGCAGGAGTT	0.483																																																	1	Substitution - Missense(1)	kidney(1)											139.0	118.0	125.0					8																	95952145		2203	4300	6503	SO:0001583	missense	94241			AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.416C>A	8.37:g.95952145G>T	ENSP00000344215:p.Pro139His		B2RCE5|Q969R9	Missense_Mutation	SNP	ENST00000342697.4	37	CCDS6265.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.590515	0.28357	.	.	ENSG00000164938	ENST00000448464;ENST00000342697;ENST00000378776	T;T;T	0.40476	1.03;1.03;1.03	6.17	4.24	0.50183	.	0.162115	0.56097	D	0.000024	T	0.21631	0.0521	N	0.12182	0.205	0.26245	N	0.978814	B;B	0.11235	0.004;0.001	B;B	0.11329	0.006;0.006	T	0.10451	-1.0629	10	0.15066	T	0.55	-16.3286	9.3555	0.38164	0.0:0.1756:0.5856:0.2389	.	139;139	Q96A56-2;Q96A56	.;T53I1_HUMAN	H	139	ENSP00000390063:P139H;ENSP00000344215:P139H;ENSP00000368052:P139H	ENSP00000344215:P139H	P	-	2	0	TP53INP1	96021321	0.613000	0.27009	0.973000	0.42090	0.881000	0.50899	0.910000	0.28571	2.941000	0.99782	0.655000	0.94253	CCT		0.483	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1			
TRIM50	135892	broad.mit.edu	37	7	72732707	72732707	+	Splice_Site	SNP	T	T	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr7:72732707T>A	ENST00000333149.2	-	5	928	c.728A>T	c.(727-729)aAg>aTg	p.K243M	TRIM50_ENST00000453152.1_Splice_Site_p.K243M	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	243						cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.K243M(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						GGAGTGGAACTTCTGGAAGGC	0.602																																																	2	Substitution - Missense(2)	kidney(2)											135.0	121.0	126.0					7																	72732707		2203	4298	6501	SO:0001630	splice_region_variant	135892			AY081948	CCDS34654.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000146755	ENSG00000146755		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19017	protein-coding gene	gene with protein product		612548	"""tripartite motif-containing 50A"", ""tripartite motif-containing 50"""	TRIM50A			Standard	NM_001281450		Approved	FLJ32804	uc003txy.1	Q86XT4	OTTHUMG00000156805	ENST00000333149.2:c.727-1A>T	7.37:g.72732707T>A			Q86XT3	Missense_Mutation	SNP	ENST00000333149.2	37	CCDS34654.1	.	.	.	.	.	.	.	.	.	.	T	16.15	3.041110	0.55003	.	.	ENSG00000146755	ENST00000333149;ENST00000453152	T;T	0.65916	-0.18;-0.18	3.2	3.2	0.36748	.	0.473238	0.18903	N	0.127966	T	0.48466	0.1501	N	0.19112	0.55	0.80722	D	1	P	0.50710	0.938	P	0.45946	0.498	T	0.52764	-0.8532	10	0.87932	D	0	.	8.1992	0.31415	0.0:0.0:0.0:1.0	.	243	Q86XT4	TRI50_HUMAN	M	243	ENSP00000327994:K243M;ENSP00000413875:K243M	ENSP00000327994:K243M	K	-	2	0	TRIM50	72370643	1.000000	0.71417	0.993000	0.49108	0.936000	0.57629	1.397000	0.34543	1.705000	0.51264	0.254000	0.18369	AAG		0.602	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345925.1		NM_178125	Missense_Mutation
TTK	7272	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	80744856	80744856	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr6:80744856A>C	ENST00000369798.2	+	15	1880	c.1769A>C	c.(1768-1770)gAt>gCt	p.D590A	TTK_ENST00000230510.3_Missense_Mutation_p.D589A|TTK_ENST00000509894.1_Missense_Mutation_p.D589A	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	590	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.D574A(1)|p.D590A(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CGACTTTATGATTAGTAAGAA	0.269																																																	2	Substitution - Missense(2)	kidney(2)											56.0	59.0	58.0					6																	80744856		2180	4275	6455	SO:0001583	missense	7272				CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.1769A>C	6.37:g.80744856A>C	ENSP00000358813:p.Asp590Ala		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.878832	0.51801	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.75704	-0.96;-0.96;-0.96	5.63	4.48	0.54585	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.089402	0.85682	D	0.000000	T	0.73156	0.3551	L	0.53671	1.685	0.53688	D	0.999975	D;D	0.69078	0.997;0.997	D;D	0.65233	0.933;0.913	T	0.76683	-0.2869	10	0.72032	D	0.01	.	8.2594	0.31775	0.8307:0.0:0.1693:0.0	.	590;589	P33981;A8K8U5	TTK_HUMAN;.	A	589;589;590	ENSP00000422936:D589A;ENSP00000230510:D589A;ENSP00000358813:D590A	ENSP00000230510:D589A	D	+	2	0	TTK	80801575	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.967000	0.63722	0.983000	0.38602	0.451000	0.29950	GAT		0.269	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			
TTN	7273	hgsc.bcm.edu	37	2	179506014	179506016	+	In_Frame_Del	DEL	TTC	TTC	-	rs370597107	byFrequency	TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	TTC	TTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr2:179506014_179506016delTTC	ENST00000591111.1	-	170	35886_35888	c.35662_35664delGAA	c.(35662-35664)gaadel	p.E11888del	TTN_ENST00000342175.6_In_Frame_Del_p.E4656del|TTN_ENST00000359218.5_In_Frame_Del_p.E4589del|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_In_Frame_Del_p.E4464del|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_In_Frame_Del_p.E13529del|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_In_Frame_Del_p.E10961del			Q8WZ42	TITIN_HUMAN	titin	11888	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTACTTTAGGTTCTTCTTCTTCA	0.291																																																	0																																										SO:0001651	inframe_deletion	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.35662_35664delGAA	2.37:g.179506023_179506025delTTC	ENSP00000465570:p.Glu11888del		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	In_Frame_Del	DEL	ENST00000591111.1	37																																																																																					0.291	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
LINC01059	102031123	broad.mit.edu	37	11	123330778	123330779	+	lincRNA	DEL	GT	GT	-	rs10579380|rs184521424	byFrequency	TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr11:123330778_123330779delGT	ENST00000525757.1	+	0	2131_2132									long intergenic non-protein coding RNA 1059																		TTGGACATACGTGTGTGTGTGT	0.401														263	0.052516	0.1188	0.0778	5008	,	,		22595	0.002		0.0179	False		,,,				2504	0.0327																0																																												0			CR617890, CV373778		11q24.1	2013-08-22			ENSG00000255414	ENSG00000255414		"""Long non-coding RNAs"""	49074	non-coding RNA	RNA, long non-coding							Standard			Approved				OTTHUMG00000166003		11.37:g.123330788_123330789delGT				RNA	DEL	ENST00000525757.1	37																																																																																					0.401	LINC01059-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000387402.1			
USP29	57663	broad.mit.edu;ucsc.edu	37	19	57642541	57642541	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr19:57642541G>A	ENST00000254181.4	+	4	2952	c.2498G>A	c.(2497-2499)gGg>gAg	p.G833E	USP29_ENST00000598197.1_Missense_Mutation_p.G833E|U3_ENST00000516874.1_RNA	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	833	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.G833E(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGCCATATCGGGAGCTCCCCA	0.478																																																	1	Substitution - Missense(1)	kidney(1)											82.0	71.0	75.0					19																	57642541		2203	4300	6503	SO:0001583	missense	57663				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.2498G>A	19.37:g.57642541G>A	ENSP00000254181:p.Gly833Glu			Missense_Mutation	SNP	ENST00000254181.4	37	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258444	0.59321	.	.	ENSG00000131864	ENST00000254181	D	0.97831	-4.56	2.57	2.57	0.30868	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.32401	U	0.006146	D	0.97942	0.9323	M	0.64170	1.965	0.38539	D	0.949167	D	0.89917	1.0	D	0.97110	1.0	D	0.98433	1.0583	10	0.87932	D	0	-13.6273	11.2917	0.49254	0.0:0.0:1.0:0.0	.	833	Q9HBJ7	UBP29_HUMAN	E	833	ENSP00000254181:G833E	ENSP00000254181:G833E	G	+	2	0	USP29	62334353	1.000000	0.71417	0.024000	0.17045	0.755000	0.42902	5.654000	0.67974	1.714000	0.51371	0.467000	0.42956	GGG		0.478	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			
VWCE	220001	broad.mit.edu;hgsc.bcm.edu	37	11	61048292	61048292	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr11:61048292C>G	ENST00000335613.5	-	8	1589	c.1203G>C	c.(1201-1203)gaG>gaC	p.E401D		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	401	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.E401D(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AACACCCAGGCTCTGTCCAGC	0.642																																																	1	Substitution - Missense(1)	kidney(1)											20.0	21.0	20.0					11																	61048292		2203	4299	6502	SO:0001583	missense	220001			AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1203G>C	11.37:g.61048292C>G	ENSP00000334186:p.Glu401Asp		A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635541	0.29068	.	.	ENSG00000167992	ENST00000335613	T	0.72394	-0.65	5.65	3.77	0.43336	von Willebrand factor, type C (3);	0.229144	0.30556	N	0.009375	T	0.44808	0.1311	N	0.12182	0.205	0.58432	D	0.999999	B	0.11235	0.004	B	0.14578	0.011	T	0.15665	-1.0429	10	0.10902	T	0.67	.	5.049	0.14499	0.0:0.6089:0.1573:0.2338	.	401	Q96DN2	VWCE_HUMAN	D	401	ENSP00000334186:E401D	ENSP00000334186:E401D	E	-	3	2	VWCE	60804868	0.494000	0.26043	0.648000	0.29521	0.908000	0.53690	0.464000	0.21988	0.743000	0.32719	0.655000	0.94253	GAG		0.642	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1		NM_152718	
WFDC1	58189	broad.mit.edu	37	16	84328656	84328656	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr16:84328656C>A	ENST00000219454.5	+	1	405	c.79C>A	c.(79-81)Cac>Aac	p.H27N	RP11-558A11.2_ENST00000569200.1_RNA|WFDC1_ENST00000568638.1_Missense_Mutation_p.H27N	NM_001282466.1|NM_001282467.1	NP_001269395.1|NP_001269396.1	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	27					negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|response to drug (GO:0042493)|response to estradiol (GO:0032355)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.H27N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						ACTTCTCCTCCACGCCGGCTC	0.632																																																	1	Substitution - Missense(1)	kidney(1)											77.0	86.0	83.0					16																	84328656		2200	4300	6500	SO:0001583	missense	58189			AF302109	CCDS10946.1	16q24.1	2013-01-21			ENSG00000103175	ENSG00000103175		"""WAP four-disulfide core domain containing"""	15466	protein-coding gene	gene with protein product		605322				10967136	Standard	NM_021197		Approved	PS20	uc002fhw.3	Q9HC57	OTTHUMG00000137641	ENST00000219454.5:c.79C>A	16.37:g.84328656C>A	ENSP00000219454:p.His27Asn		D3DUL7|Q8NC27|Q9HAU1	Missense_Mutation	SNP	ENST00000219454.5	37	CCDS10946.1	.	.	.	.	.	.	.	.	.	.	C	1.655	-0.513097	0.04200	.	.	ENSG00000103175	ENST00000219454	T	0.28454	1.61	4.12	-0.75	0.11080	.	1.287880	0.05193	N	0.503460	T	0.19366	0.0465	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.27640	-1.0068	10	0.11182	T	0.66	0.3571	14.0664	0.64831	0.0:0.6483:0.3517:0.0	.	27	Q9HC57	WFDC1_HUMAN	N	27	ENSP00000219454:H27N	ENSP00000219454:H27N	H	+	1	0	WFDC1	82886157	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.286000	0.18902	-0.180000	0.10637	-0.502000	0.04539	CAC		0.632	WFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269083.2			
ZFP14	57677	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36832152	36832152	+	Silent	SNP	T	T	C			TCGA-CZ-5461-01A-01D-1501-10	TCGA-CZ-5461-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	79feee74-7b14-48d9-9be7-8d7671c79c83	278cfc27-dcdc-4b5e-a12b-56730002f95d	g.chr19:36832152T>C	ENST00000270001.7	-	5	691	c.576A>G	c.(574-576)agA>agG	p.R192R		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	192					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R192R(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CAGTATGAATTCTCAGGTGTT	0.423																																																	1	Substitution - coding silent(1)	kidney(1)											136.0	129.0	132.0					19																	36832152		2203	4300	6503	SO:0001819	synonymous_variant	57677			AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.576A>G	19.37:g.36832152T>C			A7MD23	Silent	SNP	ENST00000270001.7	37	CCDS33002.1																																																																																				0.423	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1		NM_020917	
