#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
AIM1L	55057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	26664087	26664087	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr1:26664087C>A	ENST00000308182.5	-	8	880	c.451G>T	c.(451-453)Gag>Tag	p.E151*	AIM1L_ENST00000522993.1_5'UTR|AIM1L_ENST00000527815.1_Nonsense_Mutation_p.E322*			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	151	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.						carbohydrate binding (GO:0030246)	p.E151*(1)|p.E322*(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TGGCTGTCCTCTGGCTGCTGA	0.612																																																	2	Substitution - Nonsense(2)	kidney(2)											43.0	45.0	44.0					1																	26664087		2203	4300	6503	SO:0001587	stop_gained	55057					1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"""beta-gamma crystallin domain containing 2"""						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.451G>T	1.37:g.26664087C>A	ENSP00000310435:p.Glu151*	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNG3|Q5T137|Q5T150	Nonsense_Mutation	SNP	ENST00000308182.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	7.975570|7.975570	0.98591|0.98591	.|.	.|.	ENSG00000176092|ENSG00000176092	ENST00000527815;ENST00000308182|ENST00000429942	.|.	.|.	.|.	4.75|4.75	4.75|4.75	0.60458|0.60458	.|.	0.608859|.	0.17208|.	N|.	0.182848|.	.|T	.|0.71039	.|0.3293	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70081	.|-0.4970	.|4	0.13470|.	T|.	0.59|.	.|.	15.2913|15.2913	0.73868|0.73868	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	322;151|88	.|.	ENSP00000310435:E151X|.	E|R	-|-	1|2	0|0	AIM1L|AIM1L	26536674|26536674	0.992000|0.992000	0.36948|0.36948	1.000000|1.000000	0.80357|0.80357	0.934000|0.934000	0.57294|0.57294	0.807000|0.807000	0.27140|0.27140	2.472000|2.472000	0.83506|0.83506	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.612	AIM1L-201	KNOWN	basic	protein_coding	protein_coding			NM_001039775.2	
ATCAY	85300	broad.mit.edu;hgsc.bcm.edu	37	19	3907733	3907733	+	Splice_Site	SNP	C	C	T			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr19:3907733C>T	ENST00000450849.2	+	5	827	c.360C>T	c.(358-360)gaC>gaT	p.D120D	ATCAY_ENST00000600960.1_Splice_Site_p.D120D|ATCAY_ENST00000398448.3_Splice_Site_p.D126D|ATCAY_ENST00000301260.6_Splice_Site_p.D120D	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	120	Required for interaction with KLC1. {ECO:0000250}.				apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)	p.D120D(2)		breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		TGCTTCTAGACGACACCCCCG	0.677																																																	2	Substitution - coding silent(2)	kidney(2)																																								SO:0001630	splice_region_variant	85300				CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"""Cayman ataxia"", ""caytaxin"""	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.359-1C>T	19.37:g.3907733C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Silent	SNP	ENST00000450849.2	37	CCDS45923.1																																																																																				0.677	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2			Silent
PLEKHS1	79949	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	115534737	115534737	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr10:115534737C>A	ENST00000369310.3	+	9	1476	c.914C>A	c.(913-915)aCa>aAa	p.T305K	PLEKHS1_ENST00000369309.1_Missense_Mutation_p.T125K|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.T223K|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.T311K|PLEKHS1_ENST00000354462.3_Missense_Mutation_p.T55K	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	305								p.T311K(1)|p.T223K(1)									GCACAGACCACAAATGACCAA	0.478																																																	2	Substitution - Missense(2)	kidney(2)											82.0	71.0	74.0					10																	115534737		2203	4300	6503	SO:0001583	missense	0			AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"""Pleckstrin homology (PH) domain containing"""	26285	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 81"""	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.914C>A	10.37:g.115534737C>A	ENSP00000358316:p.Thr305Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Missense_Mutation	SNP	ENST00000369310.3	37	CCDS53580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.436|3.436	-0.115052|-0.115052	0.06881|0.06881	.|.	.|.	ENSG00000148735|ENSG00000148735	ENST00000448805|ENST00000361048;ENST00000369312;ENST00000369310;ENST00000369309;ENST00000354462	.|T;T;T;T;T	.|0.30714	.|1.52;1.52;1.52;1.52;1.52	5.64|5.64	-3.89|-3.89	0.04193|0.04193	.|.	.|0.918218	.|0.09393	.|N	.|0.808360	T|T	0.17959|0.17959	0.0431|0.0431	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.29988	.|0.066;0.264;0.066;0.138	.|B;B;B;B	.|0.21151	.|0.029;0.033;0.027;0.027	T|T	0.25363|0.25363	-1.0134|-1.0134	5|10	.|0.30078	.|T	.|0.28	-0.2453|-0.2453	1.2572|1.2572	0.01994|0.01994	0.1262:0.2621:0.2484:0.3633|0.1262:0.2621:0.2484:0.3633	.|.	.|305;305;305;311	.|Q5SXH7;Q5SXH7-5;Q5SXH7-2;Q5SXH7-4	.|CJ081_HUMAN;.;.;.	Q|K	21|311;223;305;125;55	.|ENSP00000354332:T311K;ENSP00000358318:T223K;ENSP00000358316:T305K;ENSP00000358315:T125K;ENSP00000346451:T55K	.|ENSP00000346451:T55K	H|T	+|+	3|2	2|0	C10orf81|C10orf81	115524727|115524727	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.092000|0.092000	0.18411|0.18411	-1.919000|-1.919000	0.01572|0.01572	-0.264000|-0.264000	0.09365|0.09365	0.591000|0.591000	0.81541|0.81541	CAC|ACA		0.478	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1		NM_024889	
C12orf40	283461	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	40114940	40114940	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr12:40114940C>A	ENST00000324616.5	+	13	2000	c.1846C>A	c.(1846-1848)Cta>Ata	p.L616I		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	616								p.L616I(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ACAGTGTGATCTAATTTCAAA	0.413																																																	1	Substitution - Missense(1)	kidney(1)											147.0	140.0	142.0					12																	40114940		1938	4134	6072	SO:0001583	missense	283461			AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1846C>A	12.37:g.40114940C>A	ENSP00000317671:p.Leu616Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B7WNU1|Q8IXY6|Q8N818|V9HW02	Missense_Mutation	SNP	ENST00000324616.5	37	CCDS41770.1	.	.	.	.	.	.	.	.	.	.	C	3.763	-0.049147	0.07407	.	.	ENSG00000180116	ENST00000324616	T	0.39787	1.06	4.79	1.02	0.19986	.	0.722644	0.12363	N	0.475476	T	0.13970	0.0338	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.31194	-0.9952	10	0.07990	T	0.79	.	5.4746	0.16688	0.5394:0.3643:0.0963:0.0	.	616	Q86WS4	CL040_HUMAN	I	616	ENSP00000317671:L616I	ENSP00000317671:L616I	L	+	1	2	C12orf40	38401207	0.247000	0.23920	0.001000	0.08648	0.871000	0.50021	0.744000	0.26245	0.076000	0.16826	-0.535000	0.04281	CTA		0.413	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2		NM_173599	
EFCAB13	124989	hgsc.bcm.edu	37	17	45438887	45438890	+	Splice_Site	DEL	AGTG	AGTG	-	rs10538163|rs201433080|rs55920564	byFrequency	TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	AGTG	AGTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr17:45438887_45438890delAGTG	ENST00000331493.2	+	10	1216	c.805delAGTG	c.(805-807)agt>gt	p.S269fs	EFCAB13_ENST00000517484.1_Intron	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	269						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										CTATATTGACAGTGAGTTATTTGC	0.328														2236	0.446486	0.5772	0.4135	5008	,	,		17784	0.254		0.5249	False		,,,				2504	0.411																0									,	2341,1923		660,1021,451					,	1.8	1.0		dbSNP_119	128	4468,3784		1232,2004,890	no	frameshift-near-splice,intron	C17orf57	NM_152347.4,NM_001195192.1	,	1892,3025,1341	A1A1,A1R,RR		45.8556,45.0985,45.5976	,	,		6809,5707				SO:0001630	splice_region_variant	0			BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.805+1AGTG>-	17.37:g.45438887_45438890delAGTG		Somatic		WXS	Illumina HiSeq	Phase_I	G3V128|Q49AG9	Frame_Shift_Del	DEL	ENST00000331493.2	37	CCDS11512.1																																																																																				0.328	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4		NM_152347	Frame_Shift_Del
C19orf26	255057	hgsc.bcm.edu	37	19	1236046	1236051	+	In_Frame_Del	DEL	AGTGGT	AGTGGT	-	rs199935954	byFrequency	TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	AGTGGT	AGTGGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr19:1236046_1236051delAGTGGT	ENST00000382477.2	-	2	305_310	c.31_36delACCACT	c.(31-36)accactdel	p.TT11del	C19orf26_ENST00000215376.6_In_Frame_Del_p.TT11del|AC004221.2_ENST00000592843.1_lincRNA|C19orf26_ENST00000590083.1_In_Frame_Del_p.TT17del			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	11	Thr-rich.					integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTACTgtggcagtggtggtggtggtg	0.675										HNSCC(14;0.022)				25	0.00499201	0.0	0.0029	5008	,	,		17712	0.0		0.0189	False		,,,				2504	0.0041																0										14,17,4221		0,0,14,0,17,2095						-0.9	0.6			28	116,17,8107		0,1,115,0,16,3988	no	codingComplex	C19orf26	NM_152769.2		0,1,129,0,33,6083	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6141,0.7291,1.3128				130,34,12328				SO:0001651	inframe_deletion	255057			BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"""downstream of STK11"""					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.31_36delACCACT	19.37:g.1236046_1236051delAGTGGT	ENSP00000371917:p.Thr11_Thr12del	Somatic		WXS	Illumina HiSeq	Phase_I	O43385	In_Frame_Del	DEL	ENST00000382477.2	37																																																																																					0.675	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_152769	
CAMSAP2	23271	hgsc.bcm.edu;ucsc.edu	37	1	200801906	200801912	+	Frame_Shift_Del	DEL	AAGAATA	AAGAATA	-			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	AAGAATA	AAGAATA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr1:200801906_200801912delAAGAATA	ENST00000236925.4	+	7	942_948	c.893_899delAAGAATA	c.(892-900)caagaatacfs	p.QEY298fs	CAMSAP2_ENST00000358823.2_Frame_Shift_Del_p.QEY287fs|CAMSAP2_ENST00000413307.2_Frame_Shift_Del_p.QEY287fs			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	298	CH.				microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										GAATTTTGCCAAGAATACTTGAACCAG	0.343																																																	0																																										SO:0001589	frameshift_variant	0			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.893_899delAAGAATA	1.37:g.200801906_200801912delAAGAATA	ENSP00000236925:p.Gln298fs	Somatic		WXS	Illumina HiSeq	Phase_I	B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Frame_Shift_Del	DEL	ENST00000236925.4	37																																																																																					0.343	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2		NM_203459	
CATSPERB	79820	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	92054360	92054360	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr14:92054360C>A	ENST00000256343.3	-	25	3175	c.3019G>T	c.(3019-3021)Gca>Tca	p.A1007S		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	1007					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)		p.A1007S(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TTATACACTGCAGCACCAAGA	0.299																																																	1	Substitution - Missense(1)	kidney(1)											136.0	136.0	136.0					14																	92054360		2203	4296	6499	SO:0001583	missense	79820			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.3019G>T	14.37:g.92054360C>A	ENSP00000256343:p.Ala1007Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	C	9.421	1.082920	0.20309	.	.	ENSG00000133962	ENST00000256343	T	0.41065	1.01	5.1	-2.87	0.05700	.	0.626496	0.14067	N	0.343689	T	0.18130	0.0435	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28870	-1.0030	10	0.05721	T	0.95	-1.045	1.6645	0.02799	0.406:0.2502:0.2243:0.1195	.	1007	Q9H7T0	CTSRB_HUMAN	S	1007	ENSP00000256343:A1007S	ENSP00000256343:A1007S	A	-	1	0	CATSPERB	91124113	0.000000	0.05858	0.014000	0.15608	0.024000	0.10985	-0.664000	0.05292	-0.201000	0.10284	-1.053000	0.02334	GCA		0.299	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1		NM_024764	
CCDC150	284992	hgsc.bcm.edu;ucsc.edu	37	2	197594682	197594683	+	Splice_Site	INS	-	-	T			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr2:197594682_197594683insT	ENST00000389175.4	+	25	2957_2958	c.2822_2823insT	c.(2821-2826)tctttg>tcTtttg	p.L942fs	CCDC150_ENST00000409270.1_Splice_Site_p.L429fs|CCDC150_ENST00000272831.7_Splice_Site_p.L589fs	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	942										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TCCTTCCAGTCTTTGAGTATCC	0.411																																																	0																																										SO:0001630	splice_region_variant	284992				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.2821-1->T	2.37:g.197594685_197594685dupT		Somatic		WXS	Illumina HiSeq	Phase_I	Q6P5U6|Q6P663|Q8N8V5	Frame_Shift_Ins	INS	ENST00000389175.4	37	CCDS46478.1																																																																																				0.411	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2		NM_001080539	Frame_Shift_Ins
CGN	57530	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151496775	151496775	+	Silent	SNP	C	C	T			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr1:151496775C>T	ENST00000271636.7	+	7	1475	c.1342C>T	c.(1342-1344)Ctg>Ttg	p.L448L		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	442	Glu-rich.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)	p.L448L(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGTGATGGAGCTGCAGAACAA	0.507																																																	1	Substitution - coding silent(1)	kidney(1)											108.0	96.0	100.0					1																	151496775		2203	4300	6503	SO:0001819	synonymous_variant	57530			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.1342C>T	1.37:g.151496775C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6H8L3|A7MD22|Q5T386|Q9NR25	Silent	SNP	ENST00000271636.7	37	CCDS999.1																																																																																				0.507	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3		NM_020770	
CLK1	1195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	201721535	201721535	+	Splice_Site	SNP	C	C	A			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr2:201721535C>A	ENST00000321356.4	-	9	1063		c.e9-1		CLK1_ENST00000434813.2_Splice_Site|CLK1_ENST00000409769.2_Splice_Site	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1						cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.?(2)		NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CATCACGTTTCTGAAAATCAT	0.328																																																	2	Unknown(2)	kidney(2)											151.0	147.0	149.0					2																	201721535		2202	4300	6502	SO:0001630	splice_region_variant	1195			L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.928-1G>T	2.37:g.201721535C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DFW7|Q0P694|Q8N5V8	Splice_Site	SNP	ENST00000321356.4	37	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984504	0.74474	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0867	0.89460	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLK1	201429780	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.776000	0.85560	2.449000	0.82847	0.491000	0.48974	.		0.328	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			Intron
DNAH9	1770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	11738174	11738174	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr17:11738174G>C	ENST00000262442.4	+	49	9534	c.9466G>C	c.(9466-9468)Gca>Cca	p.A3156P	DNAH9_ENST00000454412.2_Missense_Mutation_p.A3156P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3156	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.A3156P(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCTGAGCCAGCACTCACAGC	0.572																																																	1	Substitution - Missense(1)	kidney(1)											132.0	93.0	106.0					17																	11738174		2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9466G>C	17.37:g.11738174G>C	ENSP00000262442:p.Ala3156Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154642	0.38021	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.80738	-1.41;-1.41	5.17	3.1	0.35709	Dynein heavy chain, coiled coil stalk (1);	0.260842	0.36665	N	0.002462	D	0.92890	0.7738	H	0.98833	4.345	0.80722	D	1	D	0.67145	0.996	D	0.76071	0.987	D	0.93614	0.6941	10	0.87932	D	0	.	10.1826	0.42977	0.0709:0.0:0.7934:0.1357	.	3156	Q9NYC9	DYH9_HUMAN	P	3156;3156;1738	ENSP00000262442:A3156P;ENSP00000414874:A3156P	ENSP00000262442:A3156P	A	+	1	0	DNAH9	11678899	1.000000	0.71417	0.057000	0.19452	0.030000	0.12068	5.185000	0.65076	1.412000	0.46977	-0.140000	0.14226	GCA		0.572	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2		NM_001372	
DOK4	55715	broad.mit.edu;hgsc.bcm.edu	37	16	57509863	57509863	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr16:57509863G>C	ENST00000340099.4	-	3	444	c.73C>G	c.(73-75)Cgg>Ggg	p.R25G	DOK4_ENST00000569548.1_Missense_Mutation_p.R25G|DOK4_ENST00000566936.1_Missense_Mutation_p.R25G|DOK4_ENST00000561918.1_5'UTR	NM_018110.3	NP_060580.2	Q8TEW6	DOK4_HUMAN	docking protein 4	25	PH.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)	p.R25G(1)		kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						CAGCACCTCCGGTAGATCTGT	0.667																																																	1	Substitution - Missense(1)	kidney(1)											30.0	33.0	32.0					16																	57509863		2198	4300	6498	SO:0001583	missense	55715			BC003541	CCDS10783.1	16q13	2013-01-10			ENSG00000125170	ENSG00000125170		"""Pleckstrin homology (PH) domain containing"""	19868	protein-coding gene	gene with protein product		608333				10493829	Standard	NM_018110		Approved	FLJ10488	uc002elv.4	Q8TEW6	OTTHUMG00000133460	ENST00000340099.4:c.73C>G	16.37:g.57509863G>C	ENSP00000344277:p.Arg25Gly	Somatic		WXS	Illumina HiSeq	Phase_I	O75209|Q9BTP2|Q9NVV3	Missense_Mutation	SNP	ENST00000340099.4	37	CCDS10783.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.530000	0.45073	.	.	ENSG00000125170	ENST00000340099	T	0.76316	-1.01	5.29	4.32	0.51571	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.075607	0.51477	D	0.000088	T	0.73410	0.3583	L	0.53249	1.67	0.50467	D	0.99987	B;B	0.18166	0.008;0.026	B;B	0.21917	0.037;0.015	T	0.71846	-0.4469	10	0.59425	D	0.04	-36.3389	12.4143	0.55483	0.0:0.0:0.8117:0.1883	.	25;25	Q8TEW6;B2RD67	DOK4_HUMAN;.	G	25	ENSP00000344277:R25G	ENSP00000344277:R25G	R	-	1	2	DOK4	56067364	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.366000	0.59492	1.398000	0.46701	0.650000	0.86243	CGG		0.667	DOK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257335.3			
AMER2	219287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	25744209	25744209	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr13:25744209C>T	ENST00000515384.1	-	1	2216	c.1549G>A	c.(1549-1551)Gtc>Atc	p.V517I	AMER2-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000381853.3_Missense_Mutation_p.V398I|AMER2_ENST00000357816.2_Missense_Mutation_p.V398I			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	517					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.V398I(1)|p.V517I(1)									CTGTTGGGGACGCCTTCCTGC	0.657																																																	2	Substitution - Missense(2)	kidney(2)											69.0	63.0	65.0					13																	25744209		2203	4300	6503	SO:0001583	missense	0			AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1549G>A	13.37:g.25744209C>T	ENSP00000426528:p.Val517Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	ENST00000515384.1	37	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	C	9.652	1.141766	0.21205	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.19250	2.16;2.16;2.16	4.98	3.04	0.35103	.	0.306760	0.31041	N	0.008370	T	0.14056	0.0340	L	0.39898	1.24	0.28255	N	0.925099	B;B	0.24576	0.106;0.022	B;B	0.18561	0.022;0.013	T	0.09862	-1.0655	10	0.40728	T	0.16	-12.2641	4.8775	0.13664	0.1539:0.6073:0.1497:0.0891	.	517;398	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	I	398;398;517	ENSP00000350469:V398I;ENSP00000371277:V398I;ENSP00000426528:V517I	ENSP00000350469:V398I	V	-	1	0	FAM123A	24642209	0.812000	0.29077	0.949000	0.38748	0.984000	0.73092	1.402000	0.34600	1.290000	0.44636	0.561000	0.74099	GTC		0.657	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1		NM_152704	
FBN2	2201	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	127609608	127609608	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr5:127609608A>T	ENST00000508053.1	-	67	8738	c.7764T>A	c.(7762-7764)tgT>tgA	p.C2588*	FBN2_ENST00000262464.4_Nonsense_Mutation_p.C2588*			P35556	FBN2_HUMAN	fibrillin 2	2588	EGF-like 44; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.C2588*(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GAGTGTTTTGACAGATTCCCT	0.448																																																	2	Substitution - Nonsense(2)	kidney(2)											119.0	106.0	111.0					5																	127609608		2203	4300	6503	SO:0001587	stop_gained	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7764T>A	5.37:g.127609608A>T	ENSP00000424571:p.Cys2588*	Somatic		WXS	Illumina HiSeq	Phase_I	B4DU01|Q59ES6	Nonsense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	A	50	16.873317	0.99874	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	.	.	.	4.91	-0.14	0.13456	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8582	0.46810	0.5841:0.0:0.4159:0.0	.	.	.	.	X	2588	.	ENSP00000262464:C2588X	C	-	3	2	FBN2	127637507	1.000000	0.71417	0.997000	0.53966	0.834000	0.47266	1.339000	0.33885	-0.090000	0.12462	-0.290000	0.09829	TGT		0.448	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2		NM_001999	
FBXO28	23219	hgsc.bcm.edu;ucsc.edu	37	1	224345385	224345385	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr1:224345385delA	ENST00000366862.5	+	5	1087	c.1044delA	c.(1042-1044)cgafs	p.R348fs	FBXO28_ENST00000424254.2_3'UTR	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	348										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		CTCGGAAACGAAAAAAGGCCA	0.468																																																	0													69.0	74.0	72.0					1																	224345385		2203	4300	6503	SO:0001589	frameshift_variant	23219			AK001628	CCDS1539.1, CCDS44320.1	1q42.12	2011-08-12			ENSG00000143756	ENSG00000143756		"""F-boxes /  ""other"""""	29046	protein-coding gene	gene with protein product	"""centromere protein 30"""	609100				9455484	Standard	NM_015176		Approved	FLJ10766, KIAA0483, Fbx28, CENP-30	uc001hoh.3	Q9NVF7	OTTHUMG00000037495	ENST00000366862.5:c.1044delA	1.37:g.224345385delA	ENSP00000355827:p.Arg348fs	Somatic		WXS	Illumina HiSeq	Phase_I	E9PEM8|O75070	Frame_Shift_Del	DEL	ENST00000366862.5	37	CCDS1539.1																																																																																				0.468	FBXO28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091283.2		NM_015176	
GOT1	2805	hgsc.bcm.edu	37	10	101190282	101190283	+	Frame_Shift_Ins	INS	-	-	G	rs11557841		TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr10:101190282_101190283insG	ENST00000370508.5	-	1	67_68	c.40_41insC	c.(40-42)cagfs	p.Q14fs	GOT1_ENST00000543866.1_5'Flank|GOT1_ENST00000471741.1_5'UTR|RP11-441O15.3_ENST00000416191.2_lincRNA	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	14					2-oxoglutarate metabolic process (GO:0006103)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to insulin stimulus (GO:0032869)|fatty acid homeostasis (GO:0055089)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|glycerol biosynthetic process (GO:0006114)|L-methionine biosynthetic process from methylthioadenosine (GO:0019509)|oxaloacetate metabolic process (GO:0006107)|polyamine metabolic process (GO:0006595)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	carboxylic acid binding (GO:0031406)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-cysteine:2-oxoglutarate aminotransferase activity (GO:0047801)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|phosphatidylserine decarboxylase activity (GO:0004609)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)	CAGGACAGGCTGGGCCTGCGGA	0.599																																					Melanoma(173;770 3544 21601)												0										7,4257		0,7,2125						2.0	1.0		dbSNP_98	109	17,8237		0,17,4110	no	frameshift	GOT1	NM_002079.2		0,24,6235	A1A1,A1R,RR		0.206,0.1642,0.1917				24,12494				SO:0001589	frameshift_variant	2805			M37400	CCDS7479.1	10q24.1-q25.1	2013-05-29	2013-05-29		ENSG00000120053	ENSG00000120053	2.6.1.1		4432	protein-coding gene	gene with protein product	"""aspartate aminotransferase 1"", ""aspartate transaminase 1"""	138180	"""glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)"""			1974457	Standard	NM_002079		Approved		uc001kpr.3	P17174	OTTHUMG00000018882	ENST00000370508.5:c.41dupC	10.37:g.101190285_101190285dupG	ENSP00000359539:p.Gln14fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2R6R7|B7Z7E9|Q5VW80	Frame_Shift_Ins	INS	ENST00000370508.5	37	CCDS7479.1																																																																																				0.599	GOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049794.1		NM_002079	
GRID2	2895	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	94316836	94316836	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr4:94316836G>C	ENST00000282020.4	+	9	1582	c.1324G>C	c.(1324-1326)Gtt>Ctt	p.V442L	GRID2_ENST00000510992.1_Missense_Mutation_p.V347L	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	442					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.V442L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		GCGTGGAGTGGTTCTACGTGT	0.398																																																	1	Substitution - Missense(1)	kidney(1)											220.0	209.0	213.0					4																	94316836		2203	4300	6503	SO:0001583	missense	2895			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1324G>C	4.37:g.94316836G>C	ENSP00000282020:p.Val442Leu	Somatic		WXS	Illumina HiSeq	Phase_I	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706167	0.48412	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.12465	2.68;2.68	6.02	6.02	0.97574	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.14313	0.0346	N	0.14661	0.345	0.80722	D	1	B;B	0.30146	0.27;0.27	B;B	0.37091	0.241;0.241	T	0.14504	-1.0470	10	0.87932	D	0	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	347;442	E9PH24;O43424	.;GRID2_HUMAN	L	442;347	ENSP00000282020:V442L;ENSP00000421257:V347L	ENSP00000282020:V442L	V	+	1	0	GRID2	94535859	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.223000	0.89779	2.857000	0.98124	0.650000	0.86243	GTT		0.398	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			
HEY1	23462	broad.mit.edu;hgsc.bcm.edu	37	8	80678002	80678002	+	Silent	SNP	G	G	A			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr8:80678002G>A	ENST00000354724.3	-	5	535	c.336C>T	c.(334-336)taC>taT	p.Y112Y	RP11-27N21.3_ENST00000607172.1_lincRNA|HEY1_ENST00000337919.5_Silent_p.Y116Y|HEY1_ENST00000435063.2_5'UTR|HEY1_ENST00000523976.1_Silent_p.Y22Y	NM_012258.3	NP_036390.3	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1	112	Transcriptional repression and interaction with NCOR1 and SIN3A. {ECO:0000250}.				angiogenesis (GO:0001525)|anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular valve formation (GO:0003190)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac septum morphogenesis (GO:0060411)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to glucocorticoid stimulus (GO:0071385)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion morphogenesis (GO:0003203)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve morphogenesis (GO:0003184)|regulation of vasculogenesis (GO:2001212)|transcription from RNA polymerase II promoter (GO:0006366)|umbilical cord morphogenesis (GO:0036304)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Y116Y(1)|p.Y112Y(1)	HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			GCGCGTCAAAGTAACCTAAGC	0.488			T	NCOA2	mesenchymal chondrosarcoma						OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		8	8q21	23462	hairy/enhancer-of-split related with YRPW motif 1		M	2	Substitution - coding silent(2)	kidney(2)											36.0	39.0	38.0					8																	80678002		2203	4300	6503	SO:0001819	synonymous_variant	23462			AF151522	CCDS6225.1, CCDS43749.1, CCDS64915.1	8q21	2013-10-17	2013-10-17					"""Basic helix-loop-helix proteins"""	4880	protein-coding gene	gene with protein product		602953	"""hairy/enhancer-of-split related with YRPW motif 1"""			10415358, 10403790	Standard	NM_001040708		Approved	HESR-1, CHF2, HESR1, HRT-1, CHF-2, HERP2, BHLHb31	uc003ybl.3	Q9Y5J3		ENST00000354724.3:c.336C>T	8.37:g.80678002G>A		Somatic	1200	WXS	Illumina HiSeq	Phase_I	B2R883|Q5TZS3|Q8NAM2|Q9NYP4	Silent	SNP	ENST00000354724.3	37	CCDS6225.1																																																																																				0.488	HEY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379516.1		NM_012258	
IFT81	28981	hgsc.bcm.edu;ucsc.edu	37	12	110628765	110628766	+	Frame_Shift_Del	DEL	AC	AC	-	rs547209165		TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	AC	AC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr12:110628765_110628766delAC	ENST00000242591.5	+	13	1885_1886	c.1379_1380delAC	c.(1378-1380)tacfs	p.Y460fs	IFT81_ENST00000552912.1_Frame_Shift_Del_p.Y460fs	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	460					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						GGATATAGTTACACCCAAGAAG	0.361																																																	0																																										SO:0001589	frameshift_variant	28981			AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.1379_1380delAC	12.37:g.110628767_110628768delAC	ENSP00000242591:p.Tyr460fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Frame_Shift_Del	DEL	ENST00000242591.5	37	CCDS41831.1																																																																																				0.361	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1		NM_014055	
IRF7	3665	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	614301	614301	+	Silent	SNP	G	G	A			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr11:614301G>A	ENST00000397574.2	-	6	921	c.552C>T	c.(550-552)ctC>ctT	p.L184L	IRF7_ENST00000397562.3_Intron|IRF7_ENST00000330243.5_Silent_p.L197L|IRF7_ENST00000525445.1_Silent_p.L78L|IRF7_ENST00000348655.6_Silent_p.L184L|IRF7_ENST00000397566.1_Silent_p.L197L|IRF7_ENST00000397570.1_Silent_p.L184L	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	184					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.L197L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCACTGCCTGGAGCAGGAGGT	0.657																																																	1	Substitution - coding silent(1)	kidney(1)											35.0	35.0	35.0					11																	614301		2200	4298	6498	SO:0001819	synonymous_variant	3665			U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.552C>T	11.37:g.614301G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Silent	SNP	ENST00000397574.2	37	CCDS7703.1																																																																																				0.657	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255026.1		NM_001572	
KBTBD6	89890	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	41706394	41706394	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr13:41706394T>C	ENST00000379485.1	-	1	488	c.254A>G	c.(253-255)aAc>aGc	p.N85S	KBTBD6_ENST00000499385.2_Intron	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	85	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.							p.N85S(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CACATTGCGGTTGCAGGGGAA	0.622																																																	1	Substitution - Missense(1)	kidney(1)											74.0	67.0	69.0					13																	41706394		2203	4300	6503	SO:0001583	missense	89890			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.254A>G	13.37:g.41706394T>C	ENSP00000368799:p.Asn85Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	t	9.433	1.086047	0.20390	.	.	ENSG00000165572	ENST00000379485	T	0.70399	-0.48	3.59	3.59	0.41128	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.055231	0.64402	D	0.000001	T	0.47432	0.1445	N	0.05177	-0.1	0.80722	D	1	P	0.40282	0.711	B	0.37346	0.247	T	0.55774	-0.8088	10	0.56958	D	0.05	.	10.421	0.44350	0.0:0.0:0.0:1.0	.	85	Q86V97	KBTB6_HUMAN	S	85	ENSP00000368799:N85S	ENSP00000368799:N85S	N	-	2	0	KBTBD6	40604394	1.000000	0.71417	1.000000	0.80357	0.463000	0.32649	4.472000	0.60189	1.646000	0.50622	0.260000	0.18958	AAC		0.622	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1		NM_152903	
LRRIQ1	84125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	85438507	85438507	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr12:85438507G>A	ENST00000393217.2	+	4	317	c.256G>A	c.(256-258)Gga>Aga	p.G86R		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	86								p.G86R(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CTGTAGTTATGGAGCAGTTTC	0.279																																																	2	Substitution - Missense(2)	kidney(2)											57.0	61.0	60.0					12																	85438507		2190	4241	6431	SO:0001583	missense	84125			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.256G>A	12.37:g.85438507G>A	ENSP00000376910:p.Gly86Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	3.012	-0.203783	0.06180	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393212;ENST00000393217	T;T	0.54675	1.23;0.56	4.79	1.94	0.25998	.	0.154165	0.30142	N	0.010308	T	0.43144	0.1234	L	0.58101	1.795	0.20926	N	0.999829	B;B	0.21225	0.053;0.035	B;B	0.15484	0.012;0.013	T	0.42310	-0.9459	10	0.72032	D	0.01	.	5.1951	0.15232	0.1866:0.1688:0.6446:0.0	.	86;86	Q96JM4;C9JI57	LRIQ1_HUMAN;.	R	86	ENSP00000376906:G86R;ENSP00000376910:G86R	ENSP00000256007:G86R	G	+	1	0	LRRIQ1	83962638	1.000000	0.71417	0.056000	0.19401	0.253000	0.25986	1.524000	0.35942	0.314000	0.23086	0.460000	0.39030	GGA		0.279	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2		NM_032165	
SLC25A53	401612	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	103349894	103349894	+	Missense_Mutation	SNP	G	G	A	rs370922777		TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chrX:103349894G>A	ENST00000357421.4	-	2	227	c.47C>T	c.(46-48)aCg>aTg	p.T16M		NM_001012755.3	NP_001012773.2	Q5H9E4	S2553_HUMAN	solute carrier family 25, member 53	16					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.T16M(1)									CTCTGCTCGCGTCCTGTGCTG	0.522																																																	1	Substitution - Missense(1)	kidney(1)							MET/THR	1,3832		0,1,1631,569	52.0	49.0	50.0		47	1.7	0.0	X		50	0,6728		0,0,2428,1872	no	missense	MCART6	NM_001012755.3	81	0,1,4059,2441	AA,AG,GG,G		0.0,0.0261,0.0095	benign	16/308	103349894	1,10560	2201	4300	6501	SO:0001583	missense	0				CCDS35363.1	Xq22.2	2013-05-22	2012-03-29	2012-03-29	ENSG00000176274	ENSG00000269743		"""Solute carriers"""	31894	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 6"""	MCART6			Standard	NM_001012755		Approved		uc004elu.3	Q5H9E4	OTTHUMG00000022124	ENST00000357421.4:c.47C>T	X.37:g.103349894G>A	ENSP00000361681:p.Thr16Met	Somatic		WXS	Illumina HiSeq	Phase_I	B2RTT9	Missense_Mutation	SNP	ENST00000357421.4	37	CCDS35363.1	.	.	.	.	.	.	.	.	.	.	g	0.445	-0.896553	0.02472	2.61E-4	0.0	ENSG00000176274	ENST00000357421	T	0.74842	-0.88	3.49	1.71	0.24356	.	0.910551	0.09193	N	0.835686	T	0.53449	0.1797	N	0.19112	0.55	0.09310	N	1	B	0.33904	0.431	B	0.24006	0.05	T	0.41378	-0.9512	10	0.45353	T	0.12	-11.9024	5.2124	0.15325	0.2821:0.0:0.7179:0.0	.	16	Q5H9E4	MCAR6_HUMAN	M	16	ENSP00000361681:T16M	ENSP00000361681:T16M	T	-	2	0	MCART6	103236550	0.001000	0.12720	0.010000	0.14722	0.045000	0.14185	-0.095000	0.11077	0.330000	0.23485	-0.312000	0.09012	ACG		0.522	SLC25A53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057761.1		NM_001012755	
MMS19	64210	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	99223688	99223688	+	Silent	SNP	A	A	G			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr10:99223688A>G	ENST00000438925.2	-	19	2174	c.1839T>C	c.(1837-1839)ccT>ccC	p.P613P	MMS19_ENST00000327238.10_Silent_p.P515P|MMS19_ENST00000327277.7_Silent_p.P249P|MMS19_ENST00000355839.6_Silent_p.P570P|MMS19_ENST00000370782.2_Silent_p.P613P	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	613					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)	p.P613P(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		AGCAACTCTCAGGGTCCTGCT	0.507								Direct reversal of damage			OREG0020414	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	kidney(1)											94.0	76.0	82.0					10																	99223688		2203	4300	6503	SO:0001819	synonymous_variant	64210			AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"""MET18 homolog (S. cerevisiae)"""	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.1839T>C	10.37:g.99223688A>G		Somatic	1342	WXS	Illumina HiSeq	Phase_I	B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Silent	SNP	ENST00000438925.2	37	CCDS7464.1	.	.	.	.	.	.	.	.	.	.	A	2.593	-0.294698	0.05568	.	.	ENSG00000155229	ENST00000434538	.	.	.	5.3	-7.99	0.01131	.	.	.	.	.	T	0.47838	0.1467	.	.	.	0.45634	D	0.99856	.	.	.	.	.	.	T	0.53975	-0.8362	4	.	.	.	.	8.7147	0.34403	0.4724:0.1746:0.353:0.0	.	.	.	.	P	188	.	.	L	-	2	0	MMS19	99213678	0.000000	0.05858	0.383000	0.26132	0.237000	0.25408	-2.745000	0.00796	-1.766000	0.01302	-1.272000	0.01410	CTG		0.507	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049706.2			
MKI67	4288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	129913557	129913557	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr10:129913557C>G	ENST00000368654.3	-	7	1490	c.1115G>C	c.(1114-1116)aGa>aCa	p.R372T	MKI67_ENST00000368653.3_Intron|MKI67_ENST00000484853.1_5'Flank	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	372					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.R372T(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CACAGATTCTCTTCTACCAGT	0.398																																																	1	Substitution - Missense(1)	kidney(1)											120.0	125.0	123.0					10																	129913557		2203	4300	6503	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.1115G>C	10.37:g.129913557C>G	ENSP00000357643:p.Arg372Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916918	0.33815	.	.	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.01359	4.98	3.66	2.75	0.32379	.	1.182360	0.06473	N	0.731502	T	0.01254	0.0041	L	0.27053	0.805	0.09310	N	0.999996	P	0.43477	0.808	B	0.30646	0.118	T	0.50849	-0.8779	10	0.87932	D	0	.	6.9261	0.24416	0.0:0.8719:0.0:0.1281	.	372	P46013	KI67_HUMAN	T	372	ENSP00000357643:R372T	ENSP00000357643:R372T	R	-	2	0	MKI67	129803547	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	0.702000	0.25631	0.880000	0.35969	0.655000	0.94253	AGA		0.398	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1		NM_002417	
MYO1B	4430	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	192214900	192214900	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr2:192214900G>T	ENST00000392318.3	+	7	758	c.511G>T	c.(511-513)Gat>Tat	p.D171Y	MYO1B_ENST00000339514.4_Missense_Mutation_p.D171Y|MYO1B_ENST00000392316.1_Missense_Mutation_p.D171Y|MYO1B_ENST00000304164.4_Missense_Mutation_p.D171Y	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	171	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.D171Y(2)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CAAATATATGGATATTGAATT	0.343																																																	2	Substitution - Missense(2)	kidney(2)											83.0	86.0	85.0					2																	192214900		2203	4298	6501	SO:0001583	missense	4430			L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.511G>T	2.37:g.192214900G>T	ENSP00000376132:p.Asp171Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550291	0.86127	.	.	ENSG00000128641	ENST00000339514;ENST00000439452;ENST00000392318;ENST00000304164;ENST00000451437;ENST00000392316	T;T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68;-0.68	5.05	5.05	0.67936	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.88526	0.6460	M	0.94021	3.485	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.985	D	0.91514	0.5229	10	0.87932	D	0	.	18.3714	0.90408	0.0:0.0:1.0:0.0	.	171;171	O43795;O43795-2	MYO1B_HUMAN;.	Y	171	ENSP00000341903:D171Y;ENSP00000376132:D171Y;ENSP00000306382:D171Y;ENSP00000388140:D171Y;ENSP00000376130:D171Y	ENSP00000306382:D171Y	D	+	1	0	MYO1B	191923145	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.329000	0.96413	2.509000	0.84616	0.561000	0.74099	GAT		0.343	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1		NM_012223	
OLFM4	10562	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	53624774	53624774	+	Silent	SNP	A	A	G			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr13:53624774A>G	ENST00000219022.2	+	5	1479	c.1401A>G	c.(1399-1401)ctA>ctG	p.L467L		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	467	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)	p.L467L(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		AGGGCAAACTAGACATTGTAA	0.383																																																	1	Substitution - coding silent(1)	kidney(1)											112.0	110.0	111.0					13																	53624774		2203	4300	6503	SO:0001819	synonymous_variant	10562			AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1401A>G	13.37:g.53624774A>G		Somatic		WXS	Illumina HiSeq	Phase_I	O95362|Q5VWG0|Q86T22	Silent	SNP	ENST00000219022.2	37	CCDS9440.1																																																																																				0.383	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2		NM_006418	
OR4C16	219428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	55339950	55339950	+	Missense_Mutation	SNP	C	C	T	rs199938003		TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr11:55339950C>T	ENST00000314634.3	+	1	347	c.347C>T	c.(346-348)aCg>aTg	p.T116M		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T116M(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CTCATCCTCACGGCTGTTGAC	0.512													c|||	1	0.000199681	0.0	0.0	5008	,	,		20312	0.0		0.001	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											202.0	195.0	198.0					11																	55339950		2201	4296	6497	SO:0001583	missense	219428			AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.347C>T	11.37:g.55339950C>T	ENSP00000324913:p.Thr116Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	CCDS31502.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	2.032	-0.422190	0.04734	.	.	ENSG00000181935	ENST00000314634	T	0.00672	5.89	4.98	3.86	0.44501	GPCR, rhodopsin-like superfamily (1);	0.068011	0.64402	N	0.000007	T	0.00144	0.0004	N	0.00001	-3.81	0.29297	N	0.868941	B	0.06786	0.001	B	0.01281	0.0	T	0.36065	-0.9763	10	0.02654	T	1	.	8.8368	0.35117	0.0:0.0895:0.0:0.9105	.	116	Q8NGL9	OR4CG_HUMAN	M	116	ENSP00000324913:T116M	ENSP00000324913:T116M	T	+	2	0	OR4C16	55096526	1.000000	0.71417	0.991000	0.47740	0.864000	0.49448	3.057000	0.49931	0.935000	0.37341	-0.362000	0.07510	ACG		0.512	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1		NM_001004701	
PDZD2	23037	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	32052785	32052785	+	Silent	SNP	C	C	T			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr5:32052785C>T	ENST00000438447.1	+	9	2122	c.1734C>T	c.(1732-1734)ctC>ctT	p.L578L	PDZD2_ENST00000282493.3_Silent_p.L578L			O15018	PDZD2_HUMAN	PDZ domain containing 2	578					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.L578L(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTTGGAGGCTCATTCGGCCAT	0.483																																																	1	Substitution - coding silent(1)	kidney(1)											171.0	160.0	164.0					5																	32052785		2203	4300	6503	SO:0001819	synonymous_variant	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.1734C>T	5.37:g.32052785C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q9BXD4	Silent	SNP	ENST00000438447.1	37	CCDS34137.1																																																																																				0.483	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			
PGAM5	192111	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	133295376	133295376	+	Intron	SNP	T	T	G			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr12:133295376T>G	ENST00000498926.2	+	5	777				PGAM5_ENST00000317555.2_Missense_Mutation_p.F250V|PGAM5_ENST00000543955.1_Intron|PGAM5_ENST00000454808.2_Intron|PXMP2_ENST00000545677.1_Intron|PGAM5_ENST00000541034.1_Intron	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5						dephosphorylation (GO:0016311)|necroptotic process (GO:0070266)|positive regulation of GTPase activity (GO:0043547)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein complex binding (GO:0032403)	p.F250V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		CGCTGGGGATTTTGTGCTTCT	0.617																																																	1	Substitution - Missense(1)	kidney(1)											158.0	135.0	143.0					12																	133295376		2203	4300	6503	SO:0001627	intron_variant	192111			BC008196	CCDS9280.1, CCDS53845.1	12q24.33	2011-07-28			ENSG00000247077	ENSG00000247077			28763	protein-coding gene	gene with protein product		614939				11283018	Standard	NM_001170543		Approved	MGC5352, BXLBv68	uc009zyv.3	Q96HS1	OTTHUMG00000168021	ENST00000498926.2:c.719+670T>G	12.37:g.133295376T>G		Somatic		WXS	Illumina HiSeq	Phase_I	A9LN06|C9IZY7|Q96JB0	Missense_Mutation	SNP	ENST00000498926.2	37	CCDS53845.1	.	.	.	.	.	.	.	.	.	.	T	5.295	0.239824	0.10023	.	.	ENSG00000247077	ENST00000317555	.	.	.	0.5	-1.0	0.10196	.	0.169276	0.39687	N	0.001295	T	0.14614	0.0353	.	.	.	0.09310	N	1	P	0.41041	0.736	B	0.28784	0.094	T	0.16100	-1.0414	7	0.87932	D	0	.	.	.	.	.	250	Q96HS1-2	.	V	250	.	ENSP00000321503:F250V	F	+	1	0	PGAM5	131805449	0.011000	0.17503	0.001000	0.08648	0.001000	0.01503	0.470000	0.22084	-0.501000	0.06605	-0.569000	0.04157	TTT		0.617	PGAM5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397562.1		NM_138575	
PHIP	55023	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	79708068	79708068	+	Silent	SNP	G	G	A			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr6:79708068G>A	ENST00000275034.4	-	18	2087	c.1920C>T	c.(1918-1920)atC>atT	p.I640I		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	640					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.I640I(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CCAGTGGGCTGATCTCCTGGT	0.393																																																	1	Substitution - coding silent(1)	kidney(1)											133.0	114.0	120.0					6																	79708068		2203	4300	6503	SO:0001819	synonymous_variant	55023			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.1920C>T	6.37:g.79708068G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000275034.4	37	CCDS4987.1																																																																																				0.393	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			
PI4K2A	55361	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	99400914	99400914	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr10:99400914T>G	ENST00000370631.3	+	1	472	c.415T>G	c.(415-417)Ttc>Gtc	p.F139V	PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron	NM_018425.2	NP_060895.1	Q9BTU6	P4K2A_HUMAN	phosphatidylinositol 4-kinase type 2 alpha	139	PI3K/PI4K.				basophil degranulation (GO:0002561)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endosome (GO:0005768)|exocytic vesicle (GO:0070382)|Golgi apparatus (GO:0005794)|growing cell tip (GO:0035838)|host cell presynaptic membrane (GO:0044231)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|AP-3 adaptor complex binding (GO:0035651)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)	p.F139V(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		CGGAAGCTACTTCGTCAAGGA	0.706																																																	1	Substitution - Missense(1)	kidney(1)											13.0	15.0	14.0					10																	99400914		1931	3895	5826	SO:0001583	missense	55361			AF070611	CCDS7469.1	10q24	2011-02-09			ENSG00000155252	ENSG00000155252			30031	protein-coding gene	gene with protein product		609763				11244087, 11279162	Standard	NM_018425		Approved	PI4KII, DKFZP761G1923, PIK42A	uc001kog.1	Q9BTU6	OTTHUMG00000018863	ENST00000370631.3:c.415T>G	10.37:g.99400914T>G	ENSP00000359665:p.Phe139Val	Somatic		WXS	Illumina HiSeq	Phase_I	D3DR59|Q9NSG8	Missense_Mutation	SNP	ENST00000370631.3	37	CCDS7469.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.031521	0.93575	.	.	ENSG00000155252	ENST00000370631	T	0.78003	-1.14	3.75	3.75	0.43078	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.052006	0.85682	N	0.000000	D	0.87585	0.6214	M	0.92880	3.355	0.80722	D	1	P	0.44241	0.829	P	0.53689	0.732	D	0.90257	0.4298	10	0.87932	D	0	-7.7591	12.6312	0.56659	0.0:0.0:0.0:1.0	.	139	Q9BTU6	P4K2A_HUMAN	V	139	ENSP00000359665:F139V	ENSP00000359665:F139V	F	+	1	0	PI4K2A	99390904	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.640000	0.83355	1.570000	0.49709	0.260000	0.18958	TTC		0.706	PI4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049735.1		NM_018425	
POC1B	282809	hgsc.bcm.edu;ucsc.edu	37	12	89865497	89865498	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr12:89865497_89865498insT	ENST00000313546.3	-	6	697_698	c.569_570insA	c.(568-570)aatfs	p.N190fs	POC1B_ENST00000378528.2_Intron|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000541909.1_Frame_Shift_Ins_p.N60fs|POC1B_ENST00000393179.4_Frame_Shift_Ins_p.N60fs|POC1B_ENST00000549035.1_Frame_Shift_Ins_p.N148fs	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	190					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						AGTCCACAAAATTTGCAAATCT	0.371																																																	0																																										SO:0001589	frameshift_variant	282809			AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.570dupA	12.37:g.89865500_89865500dupT	ENSP00000323302:p.Asn190fs	Somatic		WXS	Illumina HiSeq	Phase_I	G3V1X0	Frame_Shift_Ins	INS	ENST00000313546.3	37	CCDS31869.1																																																																																				0.371	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1		NM_172240	
PRAMEF2	65122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	12919829	12919829	+	Missense_Mutation	SNP	C	C	T	rs374389020	byFrequency	TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr1:12919829C>T	ENST00000240189.2	+	3	656	c.569C>T	c.(568-570)aCg>aTg	p.T190M		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	190					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.T190M(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AATTATCTAACGCCAATTAAA	0.398													.|||	3	0.000599042	0.0	0.0	5008	,	,		25327	0.0		0.0	False		,,,				2504	0.0031																1	Substitution - Missense(1)	kidney(1)						C	MET/THR	0,4404		0,0,2202	162.0	177.0	172.0		569	-0.9	0.0	1		172	1,8587	1.2+/-3.3	0,1,4293	no	missense	PRAMEF2	NM_023014.1	81	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	190/475	12919829	1,12991	2202	4294	6496	SO:0001583	missense	65122				CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.569C>T	1.37:g.12919829C>T	ENSP00000240189:p.Thr190Met	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000240189.2	37	CCDS149.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.909161	0.00056	0.0	1.16E-4	ENSG00000120952	ENST00000240189	T	0.13901	2.55	0.842	-0.902	0.10537	.	1.724660	0.02998	N	0.147771	T	0.01940	0.0061	N	0.00289	-1.7	0.09310	N	1	P	0.36837	0.571	B	0.21360	0.034	T	0.33137	-0.9880	10	0.02654	T	1	.	3.084	0.06272	0.0:0.3627:0.0:0.6373	.	190	O60811	PRAM2_HUMAN	M	190	ENSP00000240189:T190M	ENSP00000240189:T190M	T	+	2	0	PRAMEF2	12842416	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.073000	0.14640	-0.260000	0.09418	0.194000	0.17425	ACG		0.398	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1		NM_023014	
ZNF512B	57473	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	62642793	62642793	+	Intron	SNP	C	C	T			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr20:62642793C>T	ENST00000450537.1	-	1	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Silent_p.I487I			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I487I(1)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AGAAGATCATCGACCGAGCCA	0.587																																																	1	Substitution - coding silent(1)	kidney(1)											86.0	69.0	75.0					20																	62642793		2203	4300	6503	SO:0001627	intron_variant	24148			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+37264G>A	20.37:g.62642793C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q08AK9|Q9ULM4	Silent	SNP	ENST00000450537.1	37	CCDS13548.1																																																																																				0.587	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1		NM_020713	
PTCD3	55037	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	86361451	86361451	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr2:86361451T>A	ENST00000254630.7	+	20	1646	c.1580T>A	c.(1579-1581)cTg>cAg	p.L527Q	SNORD94_ENST00000386037.1_RNA	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	527					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)	p.L527Q(1)		NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						CGCAGTGACCTGAGAGAAGAG	0.438																																																	1	Substitution - Missense(1)	kidney(1)											106.0	88.0	94.0					2																	86361451		2203	4300	6503	SO:0001583	missense	55037				CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.1580T>A	2.37:g.86361451T>A	ENSP00000254630:p.Leu527Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Missense_Mutation	SNP	ENST00000254630.7	37	CCDS33235.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.237796	0.58886	.	.	ENSG00000132300	ENST00000254630	T	0.54479	0.57	5.9	5.9	0.94986	.	0.213448	0.41294	D	0.000917	T	0.75474	0.3854	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.982	T	0.77742	-0.2474	10	0.46703	T	0.11	-4.8741	16.3291	0.83001	0.0:0.0:0.0:1.0	.	118;527	Q96EY7-2;Q96EY7	.;PTCD3_HUMAN	Q	527	ENSP00000254630:L527Q	ENSP00000254630:L527Q	L	+	2	0	PTCD3	86214962	1.000000	0.71417	0.757000	0.31301	0.059000	0.15707	5.404000	0.66344	2.257000	0.74773	0.528000	0.53228	CTG		0.438	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1		NM_017952	
RAPGEF6	51735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	130897689	130897689	+	Silent	SNP	C	C	T			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr5:130897689C>T	ENST00000509018.1	-	5	538	c.333G>A	c.(331-333)gaG>gaA	p.E111E	RAPGEF6_ENST00000308008.6_Silent_p.E111E|RAPGEF6_ENST00000503398.2_Intron|RAPGEF6_ENST00000296859.6_Silent_p.E111E|RAPGEF6_ENST00000510071.1_Silent_p.E111E|CTC-432M15.3_ENST00000514667.1_Silent_p.E161E|RAPGEF6_ENST00000307984.5_Silent_p.E111E|RAPGEF6_ENST00000507093.1_Silent_p.E111E	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	111					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)	p.E111E(3)|p.E161E(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TTTCTGAAGGCTCTAATACAA	0.289																																					Melanoma(168;435 1955 13113 13877 23213)												4	Substitution - coding silent(4)	kidney(4)											135.0	141.0	139.0					5																	130897689		2203	4296	6499	SO:0001819	synonymous_variant	51735			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.333G>A	5.37:g.130897689C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Silent	SNP	ENST00000509018.1	37	CCDS34225.1																																																																																				0.289	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1		NM_016340	
RIOK3	8780	broad.mit.edu;hgsc.bcm.edu	37	18	21056977	21056977	+	Missense_Mutation	SNP	G	G	A	rs111330062	byFrequency	TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr18:21056977G>A	ENST00000339486.3	+	10	1798	c.1181G>A	c.(1180-1182)cGg>cAg	p.R394Q	RIOK3_ENST00000581585.1_Missense_Mutation_p.R378Q|RIOK3_ENST00000577501.1_Missense_Mutation_p.R394Q	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	394	Protein kinase.				chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R394Q(1)		central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CAGTTGATGCGGCAGTTATAT	0.373																																																	1	Substitution - Missense(1)	kidney(1)						G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	108.0	91.0	96.0		1181	4.8	1.0	18	dbSNP_132	96	1,8599	1.2+/-3.3	0,1,4299	no	missense	RIOK3	NM_003831.3	43	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	394/520	21056977	2,13004	2203	4300	6503	SO:0001583	missense	8780			AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"""sudD (suppressor of bimD6, Aspergillus nidulans) homolog"", ""RIO kinase 3 (yeast)"""	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.1181G>A	18.37:g.21056977G>A	ENSP00000341874:p.Arg394Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IXN9	Missense_Mutation	SNP	ENST00000339486.3	37	CCDS11877.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.954217	0.34471	2.27E-4	1.16E-4	ENSG00000101782	ENST00000339486	T	0.07444	3.19	5.98	4.83	0.62350	RIO kinase (1);Protein kinase-like domain (1);RIO-like kinase (1);	0.109289	0.64402	N	0.000005	T	0.05090	0.0136	N	0.13235	0.315	0.28043	N	0.933659	B;B;B;B	0.11235	0.004;0.0;0.0;0.0	B;B;B;B	0.17722	0.019;0.001;0.0;0.001	T	0.37174	-0.9717	10	0.10111	T	0.7	-25.8201	11.4887	0.50369	0.9291:0.0:0.0709:0.0	.	138;378;394;394	E7ESK5;B4E1Q4;O14730-2;O14730	.;.;.;RIOK3_HUMAN	Q	394	ENSP00000341874:R394Q	ENSP00000341874:R394Q	R	+	2	0	RIOK3	19310975	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	6.134000	0.71689	1.104000	0.41587	-0.322000	0.08575	CGG		0.373	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254756.1		NM_003831	
RP1L1	94137	hgsc.bcm.edu	37	8	10467579	10467581	+	In_Frame_Del	DEL	TTC	TTC	-	rs143686100		TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	TTC	TTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr8:10467579_10467581delTTC	ENST00000382483.3	-	4	4250_4252	c.4027_4029delGAA	c.(4027-4029)gaadel	p.E1343del		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1359	8 X 16 AA approximate tandem repeats of T-E-E-G-L-Q-E-E-G-V-Q-L-E-E-T-K.		Missing (in allele RP1L1-1).|Missing (in allele RP1L1-2).		cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ctccttctgtttctttagtttcc	0.488																																																	0																																										SO:0001651	inframe_deletion	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4027_4029delGAA	8.37:g.10467579_10467581delTTC	ENSP00000371923:p.Glu1343del	Somatic		WXS	Illumina HiSeq	Phase_I	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	In_Frame_Del	DEL	ENST00000382483.3	37	CCDS43708.1																																																																																				0.488	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			
RRS1	23212	hgsc.bcm.edu;ucsc.edu	37	8	67342008	67342009	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr8:67342008_67342009insA	ENST00000320270.2	+	1	746_747	c.642_643insA	c.(643-645)aagfs	p.K215fs	RP11-346I3.4_ENST00000499642.1_lincRNA|ADHFE1_ENST00000415254.1_5'Flank|ADHFE1_ENST00000396623.3_5'Flank|ADHFE1_ENST00000379385.4_5'Flank	NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)	215					hematopoietic progenitor cell differentiation (GO:0002244)|mitotic metaphase plate congression (GO:0007080)|ribosome biogenesis (GO:0042254)	condensed nuclear chromosome (GO:0000794)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GACACCAGAGTAAGGAGGAGCT	0.688																																																	0																																										SO:0001589	frameshift_variant	23212			BC001811	CCDS6189.1	8q13.1	2013-10-22			ENSG00000179041	ENSG00000179041			17083	protein-coding gene	gene with protein product						7788527, 10688653	Standard	NM_015169		Approved	KIAA0112	uc003xwa.3	Q15050	OTTHUMG00000164765	ENST00000320270.2:c.644dupA	8.37:g.67342010_67342010dupA	ENSP00000322396:p.Lys215fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q9BUX8	Frame_Shift_Ins	INS	ENST00000320270.2	37	CCDS6189.1																																																																																				0.688	RRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380126.1		NM_015169	
RUSC1	23623	hgsc.bcm.edu;ucsc.edu	37	1	155292322	155292330	+	In_Frame_Del	DEL	ACACTGGTT	ACACTGGTT	-			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	ACACTGGTT	ACACTGGTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr1:155292322_155292330delACACTGGTT	ENST00000368352.5	+	2	909_917	c.758_766delACACTGGTT	c.(757-768)aacactggttgg>agg	p.253_256NTGW>R	RUSC1_ENST00000368354.3_In_Frame_Del_p.253_256NTGW>R|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1_ENST00000292254.4_5'Flank|RUSC1_ENST00000368349.4_5'Flank|RUSC1_ENST00000368347.4_5'Flank|RUSC1-AS1_ENST00000543656.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	253					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GAAAACAATAACACTGGTTGGAAAAACAA	0.402																																																	0																																										SO:0001651	inframe_deletion	23623			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.758_766delACACTGGTT	1.37:g.155292322_155292330delACACTGGTT	ENSP00000357336:p.Asn253_Trp256delinsArg	Somatic		WXS	Illumina HiSeq	Phase_I	B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	In_Frame_Del	DEL	ENST00000368352.5	37	CCDS41410.1																																																																																				0.402	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			
SCAPER	49855	broad.mit.edu;hgsc.bcm.edu	37	15	76994175	76994175	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr15:76994175A>G	ENST00000563290.1	-	20	2527	c.2432T>C	c.(2431-2433)gTt>gCt	p.V811A	SCAPER_ENST00000538941.2_Missense_Mutation_p.V565A|SCAPER_ENST00000324767.7_Missense_Mutation_p.V811A			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	811						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.V811A(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TCTCCCTTTAACATGGCTAAA	0.353																																																	1	Substitution - Missense(1)	kidney(1)											81.0	79.0	79.0					15																	76994175		1852	4119	5971	SO:0001583	missense	49855			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2432T>C	15.37:g.76994175A>G	ENSP00000454973:p.Val811Ala	Somatic		WXS	Illumina HiSeq	Phase_I	F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.350152	0.41599	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.22134	1.97;1.97	5.49	5.49	0.81192	Zinc finger, C2H2-like (1);	0.095716	0.64402	D	0.000001	T	0.12689	0.0308	N	0.08118	0	0.33113	D	0.540843	B;B	0.12630	0.001;0.006	B;B	0.18263	0.021;0.012	T	0.11179	-1.0598	10	0.27785	T	0.31	.	15.5999	0.76616	1.0:0.0:0.0:0.0	.	810;565	Q9BY12;F5H7X8	SCAPE_HUMAN;.	A	811;565;833	ENSP00000326924:V811A;ENSP00000442190:V565A	ENSP00000303560:V833A	V	-	2	0	SCAPER	74781230	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	5.669000	0.68081	2.099000	0.63709	0.455000	0.32223	GTT		0.353	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1		NM_020843	
SGPL1	8879	broad.mit.edu;hgsc.bcm.edu	37	10	72617449	72617449	+	Splice_Site	SNP	T	T	C			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr10:72617449T>C	ENST00000373202.3	+	6	686		c.e6+2			NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1						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.?(1)		large_intestine(4)	4						CTTGTGAAGGTGAGTGTCCAG	0.473																																					Colon(151;1054 2458 6676 40971)												1	Unknown(1)	kidney(1)											127.0	120.0	123.0					10																	72617449		2203	4300	6503	SO:0001630	splice_region_variant	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.486+2T>C	10.37:g.72617449T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Splice_Site	SNP	ENST00000373202.3	37	CCDS31216.1	.	.	.	.	.	.	.	.	.	.	T	15.42	2.827060	0.50739	.	.	ENSG00000166224	ENST00000373202;ENST00000299297;ENST00000409118	.	.	.	5.77	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3479	0.43916	0.0:0.0779:0.0:0.9221	.	.	.	.	.	-1	.	.	.	+	.	.	SGPL1	72287455	1.000000	0.71417	0.980000	0.43619	0.543000	0.35085	5.083000	0.64456	2.206000	0.71126	0.477000	0.44152	.		0.473	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048533.1		NM_003901	Intron
SH3BP4	23677	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	235951396	235951396	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr2:235951396G>T	ENST00000409212.1	+	4	2490	c.1983G>T	c.(1981-1983)ttG>ttT	p.L661F	SH3BP4_ENST00000344528.4_Missense_Mutation_p.L661F|SH3BP4_ENST00000392011.2_Missense_Mutation_p.L661F			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	661					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)	p.L661F(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TTGGTAAGTTGCTCAAGACTG	0.582																																																	1	Substitution - Missense(1)	kidney(1)											69.0	73.0	72.0					2																	235951396		2203	4300	6503	SO:0001583	missense	23677			AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1983G>T	2.37:g.235951396G>T	ENSP00000386862:p.Leu661Phe	Somatic		WXS	Illumina HiSeq	Phase_I	O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409032	0.25378	.	.	ENSG00000130147	ENST00000392011;ENST00000409212;ENST00000344528	T;T;T	0.09255	3.0;3.0;3.0	5.26	2.14	0.27477	Variant SH3 (1);	0.073951	0.56097	D	0.000040	T	0.22205	0.0535	L	0.57536	1.79	0.47123	D	0.999328	D;D	0.69078	0.997;0.997	D;D	0.68192	0.956;0.956	T	0.00704	-1.1602	10	0.56958	D	0.05	-21.6834	6.5337	0.22341	0.0884:0.0:0.4552:0.4564	.	661;661	A8K594;Q9P0V3	.;SH3B4_HUMAN	F	661	ENSP00000375867:L661F;ENSP00000386862:L661F;ENSP00000340237:L661F	ENSP00000340237:L661F	L	+	3	2	SH3BP4	235616135	0.949000	0.32298	0.976000	0.42696	0.197000	0.23852	0.063000	0.14410	0.528000	0.28580	0.655000	0.94253	TTG		0.582	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1			
SLC34A1	6569	hgsc.bcm.edu;ucsc.edu	37	5	176813524	176813526	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	CAG	CAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr5:176813524_176813526delCAG	ENST00000324417.5	+	5	580_582	c.489_491delCAG	c.(487-492)tccagc>tcc	p.163_164SS>S	SLC34A1_ENST00000512593.1_In_Frame_Del_p.163_164SS>S	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	163					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCAGAGCTCCAGCACCTCCACA	0.631																																																	0																																										SO:0001651	inframe_deletion	6569			L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.489_491delCAG	5.37:g.176813524_176813526delCAG	ENSP00000321424:p.Ser164del	Somatic		WXS	Illumina HiSeq	Phase_I	B4DPE3	In_Frame_Del	DEL	ENST00000324417.5	37	CCDS4418.1																																																																																				0.631	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1		NM_003052	
SYT2	127833	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	202566077	202566077	+	Silent	SNP	C	C	T			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr1:202566077C>T	ENST00000367267.1	-	9	1260	c.1068G>A	c.(1066-1068)gtG>gtA	p.V356V	SYT2_ENST00000367268.4_Silent_p.V356V	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	356	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000250}.				neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)	p.V356V(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GCACGGTGACCACTACCTGGA	0.552																																																	1	Substitution - coding silent(1)	kidney(1)											86.0	68.0	74.0					1																	202566077		2203	4300	6503	SO:0001819	synonymous_variant	127833			AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"""Synaptotagmins"""	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.1068G>A	1.37:g.202566077C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q496K5|Q8NBE5	Silent	SNP	ENST00000367267.1	37	CCDS1427.1																																																																																				0.552	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1		NM_177402	
SYTL2	54843	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	85409119	85409119	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr11:85409119T>A	ENST00000528231.1	-	16	2633	c.2356A>T	c.(2356-2358)Aaa>Taa	p.K786*	SYTL2_ENST00000389958.3_Nonsense_Mutation_p.K217*|SYTL2_ENST00000354566.3_Nonsense_Mutation_p.K1124*|SYTL2_ENST00000527523.1_Nonsense_Mutation_p.K754*|SYTL2_ENST00000529581.1_Nonsense_Mutation_p.K228*|SYTL2_ENST00000525423.1_Nonsense_Mutation_p.K1108*|SYTL2_ENST00000359152.5_Nonsense_Mutation_p.K1632*|SYTL2_ENST00000525702.1_Nonsense_Mutation_p.K228*|SYTL2_ENST00000389960.4_Nonsense_Mutation_p.K762*|SYTL2_ENST00000316356.4_Nonsense_Mutation_p.K787*|SYTL2_ENST00000533892.1_Nonsense_Mutation_p.K188*|SYTL2_ENST00000524452.1_Nonsense_Mutation_p.K762*	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	786	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.K1124*(1)|p.K787*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GGAAGCTTTTTACCTACAATA	0.403																																																	2	Substitution - Nonsense(2)	kidney(2)											69.0	66.0	67.0					11																	85409119		2203	4299	6502	SO:0001587	stop_gained	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.2356A>T	11.37:g.85409119T>A	ENSP00000431701:p.Lys786*	Somatic		WXS	Illumina HiSeq	Phase_I	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Nonsense_Mutation	SNP	ENST00000528231.1	37	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	T	32	5.184032	0.94885	.	.	ENSG00000137501	ENST00000389960;ENST00000359152;ENST00000354566;ENST00000316356;ENST00000525702;ENST00000525423;ENST00000529581;ENST00000389958;ENST00000530351;ENST00000528231;ENST00000533892;ENST00000527523;ENST00000524452	.	.	.	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-26.6469	10.5563	0.45118	0.0:0.0722:0.0:0.9278	.	.	.	.	X	762;1632;1124;787;228;1108;228;217;503;786;188;754;762	.	.	K	-	1	0	SYTL2	85086767	1.000000	0.71417	1.000000	0.80357	0.302000	0.27658	2.911000	0.48774	2.289000	0.77006	0.533000	0.62120	AAA		0.403	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1		NM_206927	
TMEM184A	202915	hgsc.bcm.edu	37	7	1586653	1586654	+	In_Frame_Ins	INS	-	-	GCC	rs112463195|rs374586451|rs200315697		TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr7:1586653_1586654insGCC	ENST00000297477.5	-	9	1492_1493	c.1176_1177insGGC	c.(1174-1179)ggctcc>ggcGGCtcc	p.392_393insG	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	392					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CTCCCGCCGGAGCCGCCGCTGG	0.708																																																	0																																										SO:0001652	inframe_insertion	202915				CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1174_1176dupGGC	7.37:g.1586657_1586659dupGCC	ENSP00000297477:p.Gly394_Gly395dup	Somatic		WXS	Illumina HiSeq	Phase_I	Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	CCDS43537.1																																																																																				0.708	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4		NM_152689	
TMEM30A	55754	broad.mit.edu;hgsc.bcm.edu	37	6	75968691	75968691	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr6:75968691G>C	ENST00000230461.6	-	6	1026	c.697C>G	c.(697-699)Cct>Gct	p.P233A	TMEM30A_ENST00000475111.2_Missense_Mutation_p.P197A|TMEM30A_ENST00000370050.5_Missense_Mutation_p.P114A	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	233					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.P233A(1)		NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAGTTCACAGGCTTTGTTGTA	0.363																																																	1	Substitution - Missense(1)	kidney(1)											52.0	50.0	51.0					6																	75968691		2203	4300	6503	SO:0001583	missense	55754			AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"""chromosome 6 open reading frame 67"""	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.697C>G	6.37:g.75968691G>C	ENSP00000230461:p.Pro233Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Missense_Mutation	SNP	ENST00000230461.6	37	CCDS4983.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749942	0.89753	.	.	ENSG00000112697	ENST00000230461;ENST00000545449;ENST00000370050;ENST00000475111	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.89511	0.6736	H	0.97758	4.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92286	0.5837	9	0.59425	D	0.04	.	19.4728	0.94969	0.0:0.0:1.0:0.0	.	197;233	Q9NV96-2;Q9NV96	.;CC50A_HUMAN	A	233;217;114;197	.	ENSP00000230461:P233A	P	-	1	0	TMEM30A	76025411	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.476000	0.97823	2.605000	0.88082	0.591000	0.81541	CCT		0.363	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041248.2		NM_018247	
TRAT1	50852	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	108572578	108572578	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr3:108572578C>A	ENST00000295756.6	+	6	645	c.415C>A	c.(415-417)Caa>Aaa	p.Q139K	TRAT1_ENST00000426646.1_Missense_Mutation_p.Q102K	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	139					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.Q139K(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TGGAGATGAGCAACTACATGC	0.458																																																	2	Substitution - Missense(2)	lung(1)|kidney(1)											108.0	96.0	100.0					3																	108572578		2203	4300	6503	SO:0001583	missense	50852			AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.415C>A	3.37:g.108572578C>A	ENSP00000295756:p.Gln139Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q9NZX5	Missense_Mutation	SNP	ENST00000295756.6	37	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	C	5.593	0.294241	0.10567	.	.	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.35048	1.33;1.59	5.6	3.57	0.40892	.	0.797910	0.11539	N	0.553911	T	0.31918	0.0812	L	0.53249	1.67	0.09310	N	1	B;B	0.22909	0.077;0.017	B;B	0.23275	0.045;0.018	T	0.22906	-1.0203	10	0.18276	T	0.48	-6.3522	9.4608	0.38783	0.1684:0.6862:0.1453:0.0	.	102;139	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	K	139;102	ENSP00000295756:Q139K;ENSP00000410097:Q102K	ENSP00000295756:Q139K	Q	+	1	0	TRAT1	110055268	0.002000	0.14202	0.006000	0.13384	0.002000	0.02628	1.299000	0.33424	1.326000	0.45319	0.643000	0.83706	CAA		0.458	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1		NM_016388	
TWISTNB	221830	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	19737956	19737956	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr7:19737956T>G	ENST00000222567.5	-	4	1070	c.1000A>C	c.(1000-1002)Aaa>Caa	p.K334Q		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	334	Lys-rich.				transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)	p.K334Q(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						AAATTACTTTTCCCTTTTCTT	0.303																																																	1	Substitution - Missense(1)	kidney(1)											62.0	68.0	66.0					7																	19737956		2203	4297	6500	SO:0001583	missense	221830			AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.1000A>C	7.37:g.19737956T>G	ENSP00000222567:p.Lys334Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A0PJ45|B7Z724	Missense_Mutation	SNP	ENST00000222567.5	37	CCDS34606.1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.563585	0.65651	.	.	ENSG00000105849	ENST00000222567	.	.	.	5.04	3.87	0.44632	.	0.322125	0.35555	N	0.003123	T	0.28863	0.0716	L	0.34521	1.04	0.24157	N	0.99567	P	0.42785	0.79	B	0.41571	0.36	T	0.10567	-1.0624	9	0.59425	D	0.04	-3.5481	10.0802	0.42384	0.0:0.0822:0.0:0.9178	.	334	Q3B726	RPA43_HUMAN	Q	334	.	ENSP00000222567:K334Q	K	-	1	0	TWISTNB	19704481	0.993000	0.37304	0.015000	0.15790	0.807000	0.45602	2.659000	0.46741	0.929000	0.37192	0.397000	0.26171	AAA		0.303	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			
VHL	7428	broad.mit.edu;ucsc.edu	37	3	10188309	10188309	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr3:10188309T>C	ENST00000256474.2	+	2	1292	c.452T>C	c.(451-453)aTc>aCc	p.I151T	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	151	Involved in binding to CCT complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.I151T(7)|p.I151S(6)|p.I151N(3)|p.I151>?(1)|p.?(1)|p.N150fs*7(1)|p.I151_T152del(1)|p.I151fs*8(1)|p.G144fs*19(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TTTGCCAATATCACACTGCCA	0.398		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	22	Substitution - Missense(16)|Deletion - Frameshift(3)|Complex(1)|Deletion - In frame(1)|Unknown(1)	kidney(22)	GRCh37	CM994244	VHL	M							195.0	182.0	187.0					3																	10188309		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.452T>C	3.37:g.10188309T>C	ENSP00000256474:p.Ile151Thr	Somatic		WXS	Illumina GAIIx	Phase_I	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	19.92	3.915471	0.73098	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99876	-7.41	4.89	4.89	0.63831	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.000000	0.85682	D	0.000000	D	0.99796	0.9913	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96623	0.9461	10	0.87932	D	0	0.0775	12.7607	0.57363	0.0:0.0:0.0:1.0	.	151	P40337	VHL_HUMAN	T	151;69	ENSP00000256474:I151T	ENSP00000256474:I151T	I	+	2	0	VHL	10163309	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.968000	0.70413	1.966000	0.57179	0.460000	0.39030	ATC		0.398	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
WRNIP1	56897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	2784577	2784577	+	Silent	SNP	G	G	A	rs150885902		TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr6:2784577G>A	ENST00000380773.4	+	6	1871	c.1662G>A	c.(1660-1662)gcG>gcA	p.A554A	WRNIP1_ENST00000380769.4_Silent_p.A334A|WRNIP1_ENST00000380771.4_Silent_p.A529A|WRNIP1_ENST00000380764.1_Silent_p.A170A	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1									p.A554A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				ACCCGTCTGCGTTAACACAAG	0.493													g|||	1	0.000199681	0.0	0.0	5008	,	,		20449	0.001		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)						A	,	1,4405	2.1+/-5.4	0,1,2202	116.0	91.0	100.0		1662,1587	-2.5	0.1	6	dbSNP_134	100	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	WRNIP1	NM_020135.2,NM_130395.1	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	554/666,529/641	2784577	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56897			AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"""ATPases / AAA-type"""	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1662G>A	6.37:g.2784577G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000380773.4	37	CCDS4475.1																																																																																				0.493	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039641.1		NM_130395	
ZEB2	9839	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	145157442	145157442	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr2:145157442G>A	ENST00000558170.2	-	8	2496	c.1312C>T	c.(1312-1314)Cac>Tac	p.H438Y	ZEB2_ENST00000303660.4_Missense_Mutation_p.H438Y|ZEB2_ENST00000539609.3_Missense_Mutation_p.H414Y|ZEB2_ENST00000409487.3_Missense_Mutation_p.H438Y	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	438	SMAD-MH2 binding domain. {ECO:0000250}.				cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.H438Y(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ACACCTAAGTGCTGCATTGGA	0.473																																					Melanoma(33;1235 1264 5755 16332)												1	Substitution - Missense(1)	kidney(1)											65.0	70.0	68.0					2																	145157442		2203	4300	6503	SO:0001583	missense	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1312C>T	2.37:g.145157442G>A	ENSP00000454157:p.His438Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294084	0.60086	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861	T;T;T;T;T	0.15017	2.58;2.57;2.57;2.73;2.46	5.53	5.53	0.82687	.	0.042185	0.85682	D	0.000000	T	0.27594	0.0678	L	0.39898	1.24	0.80722	D	1	P;P;P;D	0.53745	0.871;0.928;0.818;0.962	P;P;B;P	0.51945	0.685;0.558;0.14;0.507	T	0.00423	-1.1748	10	0.52906	T	0.07	-11.4638	19.4645	0.94932	0.0:0.0:1.0:0.0	.	414;303;437;438	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	Y	414;438;438;438;438	ENSP00000443792:H414Y;ENSP00000302501:H438Y;ENSP00000386854:H438Y;ENSP00000395496:H438Y;ENSP00000376601:H438Y	ENSP00000302501:H438Y	H	-	1	0	ZEB2	144873912	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.832000	0.99423	2.587000	0.87381	0.655000	0.94253	CAC		0.473	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5		NM_014795	
ZNF155	7711	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44501334	44501334	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr19:44501334A>G	ENST00000270014.2	+	5	1453	c.1325A>G	c.(1324-1326)aAt>aGt	p.N442S	RP11-15A1.7_ENST00000589021.1_RNA|RP11-15A1.7_ENST00000586860.1_RNA|ZNF155_ENST00000407951.2_Missense_Mutation_p.N453S|ZNF155_ENST00000590615.1_Missense_Mutation_p.N442S	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	442					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.N442S(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				ACTAAGTTTAATCTTGACTTG	0.418																																					NSCLC(61;554 1277 20909 42067 42312)												1	Substitution - Missense(1)	kidney(1)											80.0	84.0	83.0					19																	44501334		2200	4300	6500	SO:0001583	missense	7711			U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"""Zinc fingers, C2H2-type"", ""-"""	12940	protein-coding gene	gene with protein product		604086	"""zinc finger protein 155 (pHZ-96)"""			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.1325A>G	19.37:g.44501334A>G	ENSP00000270014:p.Asn442Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Missense_Mutation	SNP	ENST00000270014.2	37	CCDS12634.1	.	.	.	.	.	.	.	.	.	.	A	0.410	-0.913864	0.02415	.	.	ENSG00000204920	ENST00000407951;ENST00000270014	T;T	0.07216	3.21;3.21	2.59	1.49	0.22878	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04003	0.0112	N	0.12663	0.25	0.09310	N	1	B;B	0.29590	0.25;0.25	B;B	0.30316	0.114;0.079	T	0.46162	-0.9211	9	0.08837	T	0.75	.	6.9731	0.24660	0.8738:0.0:0.1262:0.0	.	453;442	B4DM95;Q12901	.;ZN155_HUMAN	S	453;442	ENSP00000385163:N453S;ENSP00000270014:N442S	ENSP00000270014:N442S	N	+	2	0	ZNF155	49193174	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.572000	0.05881	0.180000	0.19960	0.379000	0.24179	AAT		0.418	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1		NM_003445	
ZNF395	55893	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	28206650	28206650	+	Silent	SNP	A	A	G			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr8:28206650A>G	ENST00000344423.5	-	9	1553	c.1422T>C	c.(1420-1422)agT>agC	p.S474S	ZNF395_ENST00000523095.1_Silent_p.S474S|ZNF395_ENST00000523202.1_Silent_p.S474S	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	474					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S474S(1)		cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		ACCTGGCACCACTCTGGGCCC	0.632																																																	1	Substitution - coding silent(1)	kidney(1)											113.0	118.0	116.0					8																	28206650		2203	4300	6503	SO:0001819	synonymous_variant	55893			AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.1422T>C	8.37:g.28206650A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Silent	SNP	ENST00000344423.5	37	CCDS6067.1																																																																																				0.632	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr2:97869931A>T	ENST00000461153.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000420699.2_Missense_Mutation_p.T998S			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289																																																	13	Substitution - Missense(13)	kidney(6)|endometrium(4)|prostate(3)											37.0	44.0	42.0					2																	97869931		692	1587	2279	SO:0001583	missense	375248			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2992A>T	2.37:g.97869931A>T	ENSP00000419530:p.Thr998Ser	Somatic		WXS	Illumina GAIIx	Phase_I	B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	3.819	-0.038219	0.07497	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.32753	1.44;1.44	0.63	-0.824	0.10812	.	.	.	.	.	T	0.14056	0.0340	L	0.27053	0.805	0.09310	N	1	P	0.40476	0.718	B	0.28849	0.095	T	0.12837	-1.0532	8	0.38643	T	0.18	.	.	.	.	.	998	A6QL64	AN36A_HUMAN	S	998;998;360	ENSP00000419530:T998S;ENSP00000391950:T998S	ENSP00000391950:T998S	T	+	1	0	ANKRD36	97233658	0.019000	0.18553	0.011000	0.14972	0.022000	0.10575	-0.850000	0.04317	-0.324000	0.08589	0.147000	0.16070	ACA		0.289	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			
B3GAT1	27087	broad.mit.edu	37	11	134253723	134253723	+	Missense_Mutation	SNP	C	C	T	rs374620417		TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr11:134253723C>T	ENST00000524765.1	-	3	5016	c.472G>A	c.(472-474)Gcc>Acc	p.A158T	B3GAT1_ENST00000531510.1_5'Flank|B3GAT1_ENST00000312527.4_Missense_Mutation_p.A158T|B3GAT1_ENST00000392580.1_Missense_Mutation_p.A158T|B3GAT1_ENST00000537389.1_Missense_Mutation_p.A171T			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	158					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.A158T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GGGTCGCGGGCGTCTCCGCGC	0.731																																																	1	Substitution - Missense(1)	kidney(1)						C	THR/ALA,THR/ALA	0,4352		0,0,2176	30.0	27.0	28.0		472,472	2.3	0.8	11		28	1,8461		0,1,4230	no	missense,missense	B3GAT1	NM_018644.3,NM_054025.2	58,58	0,1,6406	TT,TC,CC		0.0118,0.0,0.0078	benign,benign	158/335,158/335	134253723	1,12813	2176	4231	6407	SO:0001583	missense	27087			AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"""CD molecules"", ""Beta-1,3-glucuronyltransferases"""	921	protein-coding gene	gene with protein product	"""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1"", ""glucuronosyltransferase P"""	151290	"""CD57 antigen"""	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.472G>A	11.37:g.134253723C>T	ENSP00000433847:p.Ala158Thr	Somatic		WXS	Illumina GAIIx	Phase_I	Q96FS7	Missense_Mutation	SNP	ENST00000524765.1	37	CCDS8500.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481952	0.44147	0.0	1.18E-4	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.27	2.34	0.29019	.	0.407858	0.28327	N	0.015748	T	0.30665	0.0772	N	0.03608	-0.345	0.33903	D	0.638788	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.19745	-1.0296	10	0.14252	T	0.57	-16.2624	6.1032	0.20059	0.0:0.5117:0.0:0.4883	.	171;158	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	T	158;158;158;171	ENSP00000376359:A158T;ENSP00000307875:A158T;ENSP00000433847:A158T;ENSP00000445983:A171T	ENSP00000307875:A158T	A	-	1	0	B3GAT1	133758933	1.000000	0.71417	0.750000	0.31169	0.970000	0.65996	2.541000	0.45735	0.598000	0.29829	0.561000	0.74099	GCC		0.731	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1		NM_018644	
ESPNP	284729	broad.mit.edu	37	1	17034423	17034423	+	RNA	SNP	C	C	T			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr1:17034423C>T	ENST00000492551.1	-	0	344					NR_026567.1				espin pseudogene																		CCATCTGCGCCGCGGCGTGCA	0.751																																																	0																																												284729			AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034423C>T		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000492551.1	37																																																																																					0.751	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			
PCDHGA8	9708	broad.mit.edu	37	5	140774176	140774176	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr5:140774176G>T	ENST00000398604.2	+	1	1796	c.1796G>T	c.(1795-1797)gGc>gTc	p.G599V	PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	599	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G599V(3)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGACTCGGGCCAGAACGCC	0.706																																																	3	Substitution - Missense(3)	kidney(3)																																								SO:0001583	missense	9708			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1796G>T	5.37:g.140774176G>T	ENSP00000381605:p.Gly599Val	Somatic		WXS	Illumina GAIIx	Phase_I	A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	18.62	3.662262	0.67700	.	.	ENSG00000253767	ENST00000398604	T	0.21361	2.01	4.96	4.96	0.65561	Cadherin (4);Cadherin-like (1);	0.000000	0.31624	U	0.007336	T	0.68751	0.3035	H	0.99697	4.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85054	0.0930	10	0.87932	D	0	.	17.843	0.88720	0.0:0.0:1.0:0.0	.	599;599	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	V	599	ENSP00000381605:G599V	ENSP00000381605:G599V	G	+	2	0	PCDHGA8	140754360	1.000000	0.71417	0.974000	0.42286	0.997000	0.91878	7.609000	0.82925	2.308000	0.77769	0.655000	0.94253	GGC		0.706	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1		NM_032088	
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																																	10	Substitution - Missense(10)	kidney(7)|prostate(2)|endometrium(1)																																										374666					15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000557932.1	37		.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1		NM_199163	
ZFHX4	79776	broad.mit.edu	37	8	77776069	77776069	+	Silent	SNP	T	T	C			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr8:77776069T>C	ENST00000521891.2	+	11	10567	c.10119T>C	c.(10117-10119)gcT>gcC	p.A3373A	ZFHX4_ENST00000455469.2_Silent_p.A3328A|ZFHX4_ENST00000050961.6_Silent_p.A3324A|ZFHX4_ENST00000518282.1_Silent_p.A3347A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.A3357A(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAAGTACTGCTACAGAAAGCA	0.413										HNSCC(33;0.089)																																							1	Substitution - coding silent(1)	kidney(1)											29.0	27.0	27.0					8																	77776069		1855	4075	5930	SO:0001819	synonymous_variant	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.10119T>C	8.37:g.77776069T>C		Somatic		WXS	Illumina GAIIx	Phase_I	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																				0.413	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2		NM_024721	
ZNF814	730051	broad.mit.edu	37	19	58385927	58385927	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-5196-01A-01D-1429-08	TCGA-BP-5196-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201bf07d-0be9-442f-ad66-15ea8c7e812d	73a10535-7e80-40b3-933a-7b8e95794681	g.chr19:58385927delG	ENST00000435989.2	-	3	1065	c.831delC	c.(829-831)tccfs	p.S277fs	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	277					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAAGGATTTCCCAC	0.363																																																	0													10.0	11.0	11.0					19																	58385927		679	1526	2205	SO:0001589	frameshift_variant	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.831delC	19.37:g.58385927delG	ENSP00000410545:p.Ser277fs	Somatic		WXS	Illumina GAIIx	Phase_I	A6NF35	Frame_Shift_Del	DEL	ENST00000435989.2	37	CCDS46212.1																																																																																				0.363	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1		XM_001725708	
