#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
ADAMTS12	81792	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	33576716	33576716	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:33576716G>A	ENST00000504830.1	-	19	3750	c.3415C>T	c.(3415-3417)Cct>Tct	p.P1139S	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P1054S|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1139	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P1139S(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGAGTCACAGGCCAAGTGATA	0.483										HNSCC(64;0.19)																																							1	Substitution - Missense(1)	kidney(1)											103.0	97.0	99.0					5																	33576716		2203	4300	6503	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3415C>T	5.37:g.33576716G>A	ENSP00000422554:p.Pro1139Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.945198	0.34283	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.57273	0.41;0.41	5.33	5.33	0.75918	.	0.532611	0.20110	N	0.099027	T	0.34106	0.0886	N	0.14661	0.345	0.80722	D	1	B;B	0.23249	0.082;0.049	B;B	0.28011	0.085;0.024	T	0.12811	-1.0533	10	0.09084	T	0.74	.	12.3267	0.55015	0.0:0.1832:0.8168:0.0	.	1054;1139	P58397-3;P58397	.;ATS12_HUMAN	S	1139;1054	ENSP00000422554:P1139S;ENSP00000344847:P1054S	ENSP00000344847:P1054S	P	-	1	0	ADAMTS12	33612473	0.905000	0.30787	0.982000	0.44146	0.742000	0.42306	2.554000	0.45845	2.778000	0.95560	0.655000	0.94253	CCT		0.483	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2		NM_030955	
AKAP8L	26993	broad.mit.edu;hgsc.bcm.edu	37	19	15491165	15491165	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:15491165C>T	ENST00000397410.5	-	14	1839	c.1709G>A	c.(1708-1710)gGg>gAg	p.G570E	AKAP8L_ENST00000595465.2_Missense_Mutation_p.G509E|AKAP8_ENST00000269701.2_5'Flank|AC005785.2_ENST00000597164.2_RNA	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	570						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G570E(2)		central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						GCCCTGCGCCCCCTCGTCCAG	0.751																																																	2	Substitution - Missense(2)	kidney(2)											7.0	8.0	8.0					19																	15491165		1960	4095	6055	SO:0001583	missense	26993			BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.1709G>A	19.37:g.15491165C>T	ENSP00000380557:p.Gly570Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	ENST00000397410.5	37	CCDS46005.1	.	.	.	.	.	.	.	.	.	.	C	2.790	-0.251510	0.05867	.	.	ENSG00000011243	ENST00000397410	T	0.43688	0.94	4.59	3.53	0.40419	.	0.520128	0.18981	N	0.125884	T	0.27169	0.0666	N	0.19112	0.55	0.40738	D	0.982804	P;P	0.41748	0.761;0.761	B;B	0.43445	0.42;0.42	T	0.07673	-1.0760	10	0.02654	T	1	-16.6148	11.7805	0.52010	0.0:0.8218:0.1782:0.0	.	509;570	B4DJ74;Q9ULX6	.;AKP8L_HUMAN	E	570	ENSP00000380557:G570E	ENSP00000380557:G570E	G	-	2	0	AKAP8L	15352165	0.007000	0.16637	0.124000	0.21820	0.244000	0.25665	0.580000	0.23803	1.115000	0.41800	0.561000	0.74099	GGG		0.751	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2		NM_014371	
ANKRD34A	284615	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	145474166	145474166	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:145474166C>G	ENST00000323397.4	+	4	2131	c.838C>G	c.(838-840)Ctg>Gtg	p.L280V	LIX1L_ENST00000369308.3_5'Flank|RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	280	Pro-rich.					cytoplasm (GO:0005737)		p.L280V(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGCCTGACCCTGACCGGTCG	0.662																																																	1	Substitution - Missense(1)	kidney(1)											35.0	39.0	38.0					1																	145474166		2203	4300	6503	SO:0001583	missense	284615			AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.838C>G	1.37:g.145474166C>G	ENSP00000314103:p.Leu280Val	Somatic		WXS	Illumina HiSeq	Phase_I	B3KSU3	Missense_Mutation	SNP	ENST00000323397.4	37	CCDS30829.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.517854	0.27211	.	.	ENSG00000181039	ENST00000323397	T	0.73897	-0.79	5.11	4.17	0.49024	.	0.455920	0.19446	N	0.114055	T	0.44519	0.1297	L	0.31926	0.97	0.29964	N	0.8191	B	0.02656	0.0	B	0.01281	0.0	T	0.40646	-0.9552	10	0.52906	T	0.07	-5.4102	8.4066	0.32619	0.1764:0.6533:0.1703:0.0	.	280	Q69YU3	AN34A_HUMAN	V	280	ENSP00000314103:L280V	ENSP00000314103:L280V	L	+	1	2	ANKRD34A	144185523	0.117000	0.22190	1.000000	0.80357	0.985000	0.73830	0.447000	0.21710	1.345000	0.45676	0.579000	0.79373	CTG		0.662	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1			
ARHGAP11A	9824	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	32928531	32928531	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:32928531delG	ENST00000361627.3	+	12	2279	c.1557delG	c.(1555-1557)atgfs	p.M519fs	ARHGAP11A_ENST00000543522.1_Frame_Shift_Del_p.M330fs|ARHGAP11A_ENST00000565905.1_Frame_Shift_Del_p.M330fs	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	519					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		ATTACCGGATGTCTTGGACAG	0.383																																					Colon(45;757 1134 30003 36652)												0													64.0	68.0	66.0					15																	32928531		2201	4300	6501	SO:0001589	frameshift_variant	9824			D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.1557delG	15.37:g.32928531delG	ENSP00000355090:p.Met519fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4DZN9|Q6PI96|Q9Y3S6	Frame_Shift_Del	DEL	ENST00000361627.3	37	CCDS10028.1																																																																																				0.383	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1		NM_014783	
ANPEP	290	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	90349564	90349564	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr15:90349564G>T	ENST00000300060.6	-	2	564	c.251C>A	c.(250-252)tCc>tAc	p.S84Y		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	84	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.S84Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	CACCCGGTAGGAATCGGGTTT	0.612																																					NSCLC(30;827 977 2459 19669 26125)												1	Substitution - Missense(1)	kidney(1)											125.0	101.0	109.0					15																	90349564		2200	4299	6499	SO:0001583	missense	290			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.251C>A	15.37:g.90349564G>T	ENSP00000300060:p.Ser84Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	G	1.878	-0.458636	0.04508	.	.	ENSG00000166825	ENST00000300060	T	0.04406	3.63	4.74	3.72	0.42706	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.571125	0.18960	N	0.126430	T	0.07999	0.0200	L	0.61218	1.895	0.31612	N	0.65133	B	0.24092	0.097	B	0.30716	0.119	T	0.01084	-1.1457	10	0.44086	T	0.13	.	10.9907	0.47547	0.0:0.0:0.7267:0.2733	.	84	P15144	AMPN_HUMAN	Y	84	ENSP00000300060:S84Y	ENSP00000300060:S84Y	S	-	2	0	ANPEP	88150568	0.085000	0.21516	0.866000	0.34008	0.234000	0.25298	0.529000	0.23019	2.180000	0.69256	0.467000	0.42956	TCC		0.612	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			
ARID1B	57492	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	157511244	157511244	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:157511244G>A	ENST00000350026.5	+	14	3724	c.3723G>A	c.(3721-3723)atG>atA	p.M1241I	ARID1B_ENST00000367148.1_Missense_Mutation_p.M1294I|ARID1B_ENST00000346085.5_Missense_Mutation_p.M1254I|ARID1B_ENST00000275248.4_Missense_Mutation_p.M1236I	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1241					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.M1254I(1)|p.M1236I(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGAACTCCATGACTCCAAACG	0.517																																																	2	Substitution - Missense(2)	kidney(2)											137.0	135.0	135.0					6																	157511244		2203	4296	6499	SO:0001583	missense	57492			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3723G>A	6.37:g.157511244G>A	ENSP00000055163:p.Met1241Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325236	0.60743	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02121	4.73;4.75;4.8;4.8;4.44	5.95	5.95	0.96441	.	0.093261	0.64402	D	0.000001	T	0.01940	0.0061	L	0.50333	1.59	0.80722	D	1	B;B;B	0.29988	0.172;0.264;0.264	B;B;B	0.24269	0.023;0.052;0.052	T	0.53258	-0.8464	10	0.62326	D	0.03	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	1241;1254;1236	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	I	1254;1241;1294;1236;763	ENSP00000344546:M1254I;ENSP00000055163:M1241I;ENSP00000356116:M1294I;ENSP00000275248:M1236I;ENSP00000412835:M763I	ENSP00000275248:M1236I	M	+	3	0	ARID1B	157552936	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.334000	0.96470	2.824000	0.97209	0.655000	0.94253	ATG		0.517	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1		NM_020732	
BTF3L4	91408	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	52525496	52525496	+	Intron	SNP	T	T	C			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:52525496T>C	ENST00000313334.8	+	2	255				BTF3L4_ENST00000533836.1_Intron|BTF3L4_ENST00000489308.2_Intron|BTF3L4_ENST00000472944.2_Intron|BTF3L4_ENST00000484036.1_Intron	NM_152265.4	NP_689478.1	Q96K17	BT3L4_HUMAN	basic transcription factor 3-like 4											endometrium(2)|kidney(1)|large_intestine(2)	5						AATCTATTTTTCCCCCCCTAG	0.408																																																	0													60.0	59.0	60.0					1																	52525496		2203	4300	6503	SO:0001627	intron_variant	91408			BC021004	CCDS30713.1, CCDS44146.1, CCDS58001.1	1p32.3	2011-05-26			ENSG00000134717	ENSG00000134717			30547	protein-coding gene	gene with protein product						12477932	Standard	NM_001136497		Approved	MGC23908	uc001ctk.3	Q96K17	OTTHUMG00000008960	ENST00000313334.8:c.-13-11T>C	1.37:g.52525496T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B3KNJ1|D3DQ32|G3V1C6	RNA	SNP	ENST00000313334.8	37	CCDS30713.1																																																																																				0.408	BTF3L4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024848.1		NM_152265	
CACNA1D	776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	53845394	53845394	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:53845394G>C	ENST00000350061.5	+	48	6958	c.6447G>C	c.(6445-6447)gaG>gaC	p.E2149D	CACNA1D_ENST00000288139.4_Missense_Mutation_p.E2169D|CACNA1D_ENST00000422281.2_Missense_Mutation_p.E2125D	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2149					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.E2169D(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGATGAGGAGGACCTGGCGG	0.622																																																	1	Substitution - Missense(1)	kidney(1)											51.0	47.0	49.0					3																	53845394		2203	4300	6503	SO:0001583	missense	776			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.6447G>C	3.37:g.53845394G>C	ENSP00000288133:p.Glu2149Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942021	0.73557	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.97161	-4.24;-4.27;-4.22;-4.26	5.74	4.87	0.63330	.	0.282238	0.30556	N	0.009379	D	0.97383	0.9144	M	0.61703	1.905	0.80722	D	1	P;P;D;P	0.71674	0.809;0.512;0.998;0.88	B;B;D;P	0.75484	0.279;0.194;0.986;0.47	D	0.96740	0.9546	10	0.49607	T	0.09	.	7.1734	0.25730	0.2816:0.0:0.7184:0.0	.	2125;1842;2149;2169	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	D	2149;2169;2125;1842	ENSP00000288133:E2149D;ENSP00000288139:E2169D;ENSP00000409174:E2125D;ENSP00000418014:E1842D	ENSP00000288139:E2169D	E	+	3	2	CACNA1D	53820434	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.837000	0.48191	1.585000	0.49928	0.655000	0.94253	GAG		0.622	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1		NM_000720	
CDC14A	8556	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	100964760	100964760	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:100964760G>A	ENST00000336454.3	+	15	2052	c.1697G>A	c.(1696-1698)cGa>cAa	p.R566Q	CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000544534.1_Missense_Mutation_p.R566Q|CDC14A_ENST00000361544.6_Missense_Mutation_p.R566Q|CDC14A_ENST00000542213.1_Missense_Mutation_p.R508Q	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	566					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R566Q(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		ACCATCCTCCGACCCTCCTAC	0.572																																																	1	Substitution - Missense(1)	kidney(1)											99.0	108.0	105.0					1																	100964760		2203	4300	6503	SO:0001583	missense	8556			AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.1697G>A	1.37:g.100964760G>A	ENSP00000336739:p.Arg566Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Missense_Mutation	SNP	ENST00000336454.3	37	CCDS769.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312840	0.23908	.	.	ENSG00000079335	ENST00000542213;ENST00000361544;ENST00000336454;ENST00000544534	T;T;T;T	0.11604	2.76;2.83;2.97;2.77	5.66	2.75	0.32379	.	0.144113	0.47455	D	0.000221	T	0.03178	0.0093	L	0.29908	0.895	0.27833	N	0.941398	D;B;B;B	0.62365	0.991;0.052;0.052;0.086	P;B;B;B	0.45099	0.469;0.005;0.005;0.012	T	0.38090	-0.9677	10	0.40728	T	0.16	-3.9626	7.2997	0.26413	0.156:0.1421:0.702:0.0	.	508;566;566;566	F5H7B3;A6MA65;Q9UNH5;Q9UNH5-2	.;.;CC14A_HUMAN;.	Q	508;566;566;566	ENSP00000442640:R508Q;ENSP00000354916:R566Q;ENSP00000336739:R566Q;ENSP00000442543:R566Q	ENSP00000336739:R566Q	R	+	2	0	CDC14A	100737348	0.982000	0.34865	0.226000	0.23910	0.007000	0.05969	2.437000	0.44828	0.855000	0.35359	-0.892000	0.02923	CGA		0.572	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1		NM_033312	
CHD8	57680	broad.mit.edu;hgsc.bcm.edu	37	14	21873953	21873953	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:21873953A>G	ENST00000557364.1	-	15	3241	c.2978T>C	c.(2977-2979)tTc>tCc	p.F993S	CHD8_ENST00000430710.3_Missense_Mutation_p.F714S|CHD8_ENST00000399982.2_Missense_Mutation_p.F993S|CHD8_ENST00000555962.1_Intron			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	993	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.F993S(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CGGTTCCAAGAAATGAAGCAA	0.398																																																	1	Substitution - Missense(1)	kidney(1)											185.0	177.0	179.0					14																	21873953		1852	4103	5955	SO:0001583	missense	57680			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.2978T>C	14.37:g.21873953A>G	ENSP00000451601:p.Phe993Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.853131	0.91355	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.97529	-4.42;-4.42;-4.42	5.43	5.43	0.79202	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99064	0.9679	H	0.98133	4.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99177	1.0866	10	0.87932	D	0	-17.2678	14.6032	0.68456	1.0:0.0:0.0:0.0	.	993;714	Q9HCK8;Q9HCK8-2	CHD8_HUMAN;.	S	714;993;713;993	ENSP00000406288:F714S;ENSP00000382863:F993S;ENSP00000451601:F993S	ENSP00000262707:F713S	F	-	2	0	CHD8	20943793	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.139000	0.94554	2.281000	0.76405	0.528000	0.53228	TTC		0.398	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1		NM_020920	
CNOT1	23019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	58589212	58589212	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:58589212G>C	ENST00000317147.5	-	21	3166	c.2834C>G	c.(2833-2835)cCt>cGt	p.P945R	CNOT1_ENST00000441024.2_Missense_Mutation_p.P945R|CNOT1_ENST00000569240.1_Missense_Mutation_p.P940R|CNOT1_ENST00000569732.1_5'UTR	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	945	Interaction with ZFP36.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.P945R(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GGATCCAAAAGGCTTGCGTAA	0.428																																																	2	Substitution - Missense(2)	kidney(2)											136.0	127.0	130.0					16																	58589212		2198	4300	6498	SO:0001583	missense	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.2834C>G	16.37:g.58589212G>C	ENSP00000320949:p.Pro945Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934484	0.92458	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.52057	0.7;0.68	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.71837	0.3387	M	0.93328	3.405	0.80722	D	1	P;P;P	0.52061	0.95;0.875;0.829	P;P;P	0.51657	0.625;0.456;0.676	T	0.79438	-0.1803	10	0.66056	D	0.02	.	20.1076	0.97898	0.0:0.0:1.0:0.0	.	945;945;940	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	R	945;374;940;945	ENSP00000320949:P945R;ENSP00000413113:P945R	ENSP00000320949:P945R	P	-	2	0	CNOT1	57146713	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.823000	0.97156	0.650000	0.86243	CCT		0.428	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3		NM_016284	
COL1A2	1278	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	94055151	94055151	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:94055151T>A	ENST00000297268.6	+	44	3396	c.2925T>A	c.(2923-2925)caT>caA	p.H975Q		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	975					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.H975Q(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTGGCAAACATGGAAACCGTG	0.567										HNSCC(75;0.22)																																							1	Substitution - Missense(1)	kidney(1)											103.0	99.0	100.0					7																	94055151		2203	4300	6503	SO:0001583	missense	1278			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2925T>A	7.37:g.94055151T>A	ENSP00000297268:p.His975Gln	Somatic		WXS	Illumina HiSeq	Phase_I	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	T	10.69	1.420022	0.25552	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.91740	-2.9	5.32	-3.1	0.05315	.	0.110546	0.64402	D	0.000007	T	0.69548	0.3123	N	0.00801	-1.175	0.30943	N	0.725608	B	0.24132	0.098	B	0.22601	0.04	T	0.66818	-0.5827	10	0.07482	T	0.82	.	11.4362	0.50070	0.0:0.3929:0.0:0.6071	.	975	P08123	CO1A2_HUMAN	Q	975;976	ENSP00000297268:H975Q	ENSP00000297268:H975Q	H	+	3	2	COL1A2	93893087	1.000000	0.71417	0.978000	0.43139	0.964000	0.63967	0.800000	0.27042	-0.586000	0.05898	-0.290000	0.09829	CAT		0.567	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2		NM_000089	
GBA2	57704	broad.mit.edu;ucsc.edu	37	9	35736669	35736669	+	IGR	SNP	A	A	G			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:35736669A>G	ENST00000378103.3	-	0	3611				CREB3_ENST00000353704.2_Silent_p.G354G|GBA2_ENST00000467252.1_5'Flank|CREB3_ENST00000486056.1_3'UTR	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)	p.G354G(1)		NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGAAGGGAGGATGGCTTCCTA	0.592											OREG0019176	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)											126.0	130.0	128.0					9																	35736669		2203	4300	6503	SO:0001628	intergenic_variant	10488			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35736669A>G		Somatic	857	WXS	Illumina GAIIx	Phase_I	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Silent	SNP	ENST00000378103.3	37	CCDS6589.1																																																																																				0.592	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1		NM_020944	
CUBN	8029	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	17110165	17110165	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:17110165A>G	ENST00000377833.4	-	21	2971	c.2906T>C	c.(2905-2907)cTg>cCg	p.L969P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	969	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.		L -> V (in dbSNP:rs11254354).		cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.L969P(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TAAATGAATCAGGTGATTAGG	0.413																																																	1	Substitution - Missense(1)	kidney(1)											156.0	148.0	151.0					10																	17110165		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2906T>C	10.37:g.17110165A>G	ENSP00000367064:p.Leu969Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	13.62	2.293000	0.40594	.	.	ENSG00000107611	ENST00000377833	T	0.17854	2.25	5.55	3.23	0.37069	CUB (5);	0.237883	0.21954	N	0.066688	T	0.35008	0.0917	L	0.53617	1.68	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.05767	-1.0865	10	0.52906	T	0.07	.	13.621	0.62136	0.7141:0.2859:0.0:0.0	.	969	O60494	CUBN_HUMAN	P	969	ENSP00000367064:L969P	ENSP00000367064:L969P	L	-	2	0	CUBN	17150171	1.000000	0.71417	0.104000	0.21259	0.309000	0.27889	2.996000	0.49449	0.905000	0.36596	0.533000	0.62120	CTG		0.413	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1		NM_001081	
DNAH1	25981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52387249	52387249	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr3:52387249T>C	ENST00000420323.2	+	19	3419	c.3158T>C	c.(3157-3159)cTg>cCg	p.L1053P		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1053	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L1053P(2)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCTGAGCAGCTGGAGAAGAAC	0.577																																																	2	Substitution - Missense(2)	kidney(2)											50.0	56.0	54.0					3																	52387249		2147	4245	6392	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.3158T>C	3.37:g.52387249T>C	ENSP00000401514:p.Leu1053Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.969603	0.53614	.	.	ENSG00000114841	ENST00000420323	T	0.64991	-0.13	5.78	5.78	0.91487	.	0.000000	0.41396	D	0.000882	D	0.82949	0.5148	M	0.92026	3.265	0.80722	D	1	D;D	0.69078	0.997;0.993	D;D	0.68943	0.961;0.946	D	0.87037	0.2138	10	0.87932	D	0	.	16.1108	0.81261	0.0:0.0:0.0:1.0	.	1053;1053	C9JXH6;Q9P2D7-3	.;.	P	1053	ENSP00000401514:L1053P	ENSP00000401514:L1053P	L	+	2	0	DNAH1	52362289	1.000000	0.71417	1.000000	0.80357	0.242000	0.25591	7.359000	0.79477	2.213000	0.71641	0.528000	0.53228	CTG		0.577	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1		NM_015512	
DNAH7	56171	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	196729403	196729403	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:196729403T>C	ENST00000312428.6	-	41	7076	c.6976A>G	c.(6976-6978)Att>Gtt	p.I2326V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2326	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.I2326V(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCCTGGAAATTCTGCTGATG	0.463																																																	1	Substitution - Missense(1)	kidney(1)											120.0	119.0	120.0					2																	196729403		1958	4168	6126	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6976A>G	2.37:g.196729403T>C	ENSP00000311273:p.Ile2326Val	Somatic		WXS	Illumina HiSeq	Phase_I	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	T	11.22	1.575799	0.28092	.	.	ENSG00000118997	ENST00000312428	T	0.51817	0.69	4.7	3.54	0.40534	Dynein heavy chain, P-loop containing D4 domain (1);	0.058457	0.64402	D	0.000003	T	0.60314	0.2259	M	0.64567	1.98	0.80722	D	1	D	0.62365	0.991	D	0.66716	0.946	T	0.57717	-0.7763	10	0.40728	T	0.16	.	9.9144	0.41425	0.0:0.0816:0.0:0.9184	.	2326	Q8WXX0	DYH7_HUMAN	V	2326	ENSP00000311273:I2326V	ENSP00000311273:I2326V	I	-	1	0	DNAH7	196437648	1.000000	0.71417	0.853000	0.33588	0.101000	0.19017	7.846000	0.86887	0.842000	0.35045	-0.467000	0.05162	ATT		0.463	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3		NM_018897	
DYRK4	8798	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	4702286	4702286	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:4702286A>T	ENST00000540757.2	+	4	397	c.237A>T	c.(235-237)aaA>aaT	p.K79N	DYRK4_ENST00000010132.5_Missense_Mutation_p.K79N|DYRK4_ENST00000543431.1_Missense_Mutation_p.K79N	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	79						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.K481N(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CTCCTGAGAAATTTAGCAAGA	0.537																																																	1	Substitution - Missense(1)	kidney(1)											55.0	58.0	57.0					12																	4702286		2203	4300	6503	SO:0001583	missense	8798			Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.237A>T	12.37:g.4702286A>T	ENSP00000441755:p.Lys79Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	CCDS8530.1	.	.	.	.	.	.	.	.	.	.	A	1.622	-0.521266	0.04171	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.65364	-0.15;-0.11;-0.11;-0.12	4.93	-0.289	0.12851	.	0.460129	0.25183	N	0.032508	T	0.43523	0.1251	L	0.35341	1.055	0.09310	N	0.999999	B;B;B	0.34015	0.435;0.004;0.002	B;B;B	0.33620	0.167;0.015;0.007	T	0.25950	-1.0117	10	0.40728	T	0.16	.	5.701	0.17883	0.4551:0.1491:0.3958:0.0	.	194;79;79	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	N	194;79;79;79	ENSP00000437534:K194N;ENSP00000441755:K79N;ENSP00000010132:K79N;ENSP00000439697:K79N	ENSP00000010132:K79N	K	+	3	2	DYRK4	4572547	0.008000	0.16893	0.795000	0.32087	0.228000	0.25075	-0.146000	0.10250	-0.191000	0.10448	-0.385000	0.06624	AAA		0.537	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			
FREM1	158326	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	14846003	14846003	+	Silent	SNP	G	G	A			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:14846003G>A	ENST00000380880.3	-	8	2131	c.1348C>T	c.(1348-1350)Cta>Tta	p.L450L	FREM1_ENST00000380881.4_Silent_p.L451L|FREM1_ENST00000422223.2_Silent_p.L450L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	450					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.L451L(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ACGGTGACTAGCCGGACAGCA	0.473																																																	1	Substitution - coding silent(1)	kidney(1)											56.0	61.0	59.0					9																	14846003		2098	4234	6332	SO:0001819	synonymous_variant	158326			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.1348C>T	9.37:g.14846003G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	CCDS47952.1																																																																																				0.473	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2		NM_144966	
GAS2L2	246176	hgsc.bcm.edu	37	17	34077126	34077134	+	In_Frame_Del	DEL	CTGGCGCCT	CTGGCGCCT	-			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	CTGGCGCCT	CTGGCGCCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:34077126_34077134delCTGGCGCCT	ENST00000254466.6	-	2	616_624	c.589_597delAGGCGCCAG	c.(589-597)aggcgccagdel	p.RRQ197del	GAS2L2_ENST00000587565.1_Splice_Site	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	197					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)	p.Q199H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGTGGCAGGGCTGGCGCCTGGGGGGCGCT	0.722																																																	1	Substitution - Missense(1)	ovary(1)																																								SO:0001651	inframe_deletion	246176			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.589_597delAGGCGCCAG	17.37:g.34077126_34077134delCTGGCGCCT	ENSP00000254466:p.Arg197_Gln199del	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NHY4	In_Frame_Del	DEL	ENST00000254466.6	37	CCDS11298.1																																																																																				0.722	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1		NM_139285	
GOLGA3	2802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	133384990	133384990	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:133384990T>G	ENST00000450791.2	-	4	848	c.665A>C	c.(664-666)aAg>aCg	p.K222T	GOLGA3_ENST00000537452.1_Missense_Mutation_p.K222T|GOLGA3_ENST00000204726.3_Missense_Mutation_p.K222T|GOLGA3_ENST00000545875.1_Missense_Mutation_p.K222T|GOLGA3_ENST00000456883.2_Missense_Mutation_p.K222T			Q08378	GOGA3_HUMAN	golgin A3	222	Golgi-targeting domain.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.K222T(2)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCTGCCCACCTTAGGCCCCCG	0.502																																																	2	Substitution - Missense(2)	kidney(2)											143.0	166.0	158.0					12																	133384990		2203	4300	6503	SO:0001583	missense	2802			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.665A>C	12.37:g.133384990T>G	ENSP00000410378:p.Lys222Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.848120	0.91277	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69	5.34	5.34	0.76211	.	0.137181	0.64402	D	0.000003	T	0.46328	0.1387	M	0.66939	2.045	0.80722	D	1	D;P;D	0.67145	0.996;0.933;0.965	P;P;P	0.59948	0.866;0.599;0.744	T	0.47129	-0.9141	10	0.66056	D	0.02	.	15.6173	0.76778	0.0:0.0:0.0:1.0	.	222;222;222	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	T	222	ENSP00000204726:K222T;ENSP00000410378:K222T;ENSP00000409303:K222T;ENSP00000442143:K222T;ENSP00000442603:K222T	ENSP00000204726:K222T	K	-	2	0	GOLGA3	131895063	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	7.913000	0.87471	2.153000	0.67306	0.477000	0.44152	AAG		0.502	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2		NM_005895	
GPR110	266977	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	46977033	46977033	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:46977033A>T	ENST00000371253.2	-	11	2353	c.2138T>A	c.(2137-2139)aTa>aAa	p.I713K	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.I516K	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	713					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I713K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						AATGACAGATATAATGAGAGG	0.478																																																	1	Substitution - Missense(1)	kidney(1)											88.0	81.0	84.0					6																	46977033		2203	4300	6503	SO:0001583	missense	266977			AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.2138T>A	6.37:g.46977033A>T	ENSP00000360299:p.Ile713Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.193210	0.78902	.	.	ENSG00000153292	ENST00000371253;ENST00000283297	T;T	0.48836	0.8;0.8	5.9	5.9	0.94986	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000002	T	0.72137	0.3423	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80320	-0.1432	10	0.87932	D	0	-26.8319	16.3322	0.83039	1.0:0.0:0.0:0.0	.	713	Q5T601	GP110_HUMAN	K	713;516	ENSP00000360299:I713K;ENSP00000283297:I516K	ENSP00000283297:I516K	I	-	2	0	GPR110	47084992	1.000000	0.71417	0.942000	0.38095	0.727000	0.41649	9.332000	0.96446	2.251000	0.74343	0.528000	0.53228	ATA		0.478	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2		NM_153840	
GPR155	151556	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	175301104	175301104	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:175301104C>A	ENST00000392552.2	-	16	2591	c.2353G>T	c.(2353-2355)Gac>Tac	p.D785Y	GPR155_ENST00000392551.2_Missense_Mutation_p.D785Y|GPR155_ENST00000459996.1_5'UTR|GPR155_ENST00000295500.4_Missense_Mutation_p.D785Y	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	785	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.D785Y(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						CTCACCAGGTCACAGCCACAG	0.488																																																	1	Substitution - Missense(1)	kidney(1)											113.0	111.0	112.0					2																	175301104		2203	4300	6503	SO:0001583	missense	151556			AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.2353G>T	2.37:g.175301104C>A	ENSP00000376335:p.Asp785Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	ENST00000392552.2	37	CCDS2259.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773865	0.90108	.	.	ENSG00000163328	ENST00000392552;ENST00000392551;ENST00000295500	T;T;T	0.16897	2.31;2.31;2.31	6.04	6.04	0.98038	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.100296	0.64402	D	0.000002	T	0.53318	0.1789	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.59590	-0.7426	10	0.87932	D	0	-16.9698	20.5792	0.99380	0.0:1.0:0.0:0.0	.	785	Q7Z3F1	GP155_HUMAN	Y	785	ENSP00000376335:D785Y;ENSP00000376334:D785Y;ENSP00000295500:D785Y	ENSP00000295500:D785Y	D	-	1	0	GPR155	175009350	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.058000	0.76676	2.873000	0.98535	0.561000	0.74099	GAC		0.488	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1		NM_152529	
HIST1H4E	8367	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	26205069	26205069	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:26205069T>C	ENST00000360441.4	+	1	212	c.197T>C	c.(196-198)gTg>gCg	p.V66A		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	66					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.V66A(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				CTGGAAAACGTGATTCGTGAT	0.567																																																	1	Substitution - Missense(1)	kidney(1)											138.0	124.0	129.0					6																	26205069		2203	4300	6503	SO:0001583	missense	8367			Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"""Histones / Replication-dependent"""	4790	protein-coding gene	gene with protein product		602830	"""H4 histone family, member J"", ""histone 1, H4e"""	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.197T>C	6.37:g.26205069T>C	ENSP00000353624:p.Val66Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000360441.4	37	CCDS4593.1	.	.	.	.	.	.	.	.	.	.	.	14.76	2.632206	0.46944	.	.	ENSG00000198518	ENST00000360441	T	0.70282	-0.47	2.2	2.2	0.27929	.	0.000000	0.64402	U	0.000002	T	0.67970	0.2950	.	.	.	0.53688	D	0.999974	.	.	.	.	.	.	T	0.72225	-0.4355	7	0.72032	D	0.01	.	9.8663	0.41145	0.0:0.0:0.0:1.0	.	.	.	.	A	66	ENSP00000353624:V66A	ENSP00000353624:V66A	V	+	2	0	HIST1H4E	26313048	1.000000	0.71417	0.692000	0.30179	0.007000	0.05969	7.509000	0.81698	1.246000	0.43901	0.533000	0.62120	GTG		0.567	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040104.1		NM_003545	
IGSF9	57549	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	159897631	159897631	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:159897631G>A	ENST00000368094.1	-	20	3474	c.3277C>T	c.(3277-3279)Cct>Tct	p.P1093S	TAGLN2_ENST00000368097.4_5'Flank|IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.P1077S|TAGLN2_ENST00000478033.1_5'Flank	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1093					dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.P1077S(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGTCCCCAGGGAATTCTGAG	0.517																																																	1	Substitution - Missense(1)	kidney(1)											52.0	52.0	52.0					1																	159897631		2203	4300	6503	SO:0001583	missense	57549			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.3277C>T	1.37:g.159897631G>A	ENSP00000357073:p.Pro1093Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000368094.1	37	CCDS44254.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701985	0.68501	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.65732	-0.17;-0.09	4.81	4.81	0.61882	.	0.194065	0.25447	N	0.030606	T	0.29817	0.0745	N	0.14661	0.345	0.30363	N	0.783657	P;P	0.47034	0.889;0.808	B;B	0.44224	0.444;0.235	T	0.10428	-1.0630	9	.	.	.	-7.5666	10.6156	0.45447	0.0:0.0:0.8078:0.1922	.	1093;631	Q9P2J2;C9JI81	TUTLA_HUMAN;.	S	1077;1093;631	ENSP00000355049:P1077S;ENSP00000357073:P1093S	.	P	-	1	0	IGSF9	158164255	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	1.354000	0.34056	2.204000	0.70986	0.563000	0.77884	CCT		0.517	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1		NM_020789	
KIAA0247	9766	broad.mit.edu;hgsc.bcm.edu	37	14	70170292	70170292	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr14:70170292G>A	ENST00000342745.4	+	3	615	c.302G>A	c.(301-303)aGc>aAc	p.S101N		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	101	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.S101N(1)		endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		ATGGAGATTAGCTGCCGTCTC	0.493																																																	1	Substitution - Missense(1)	kidney(1)											84.0	83.0	83.0					14																	70170292		2203	4300	6503	SO:0001583	missense	9766			D87434	CCDS9796.1	14q24.1	2012-11-29			ENSG00000100647	ENSG00000100647			19956	protein-coding gene	gene with protein product						9039502	Standard	NM_014734		Approved		uc001xlk.3	Q92537	OTTHUMG00000171234	ENST00000342745.4:c.302G>A	14.37:g.70170292G>A	ENSP00000344424:p.Ser101Asn	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000342745.4	37	CCDS9796.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907117	0.72868	.	.	ENSG00000100647	ENST00000342745	T	0.66815	-0.23	5.9	5.9	0.94986	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.78291	0.4260	M	0.63428	1.95	0.58432	D	0.999996	D	0.71674	0.998	D	0.66847	0.947	T	0.74109	-0.3771	10	0.29301	T	0.29	-21.1053	16.5023	0.84260	0.0:0.1307:0.8693:0.0	.	101	Q92537	K0247_HUMAN	N	101	ENSP00000344424:S101N	ENSP00000344424:S101N	S	+	2	0	KIAA0247	69240045	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.207000	0.72159	2.788000	0.95919	0.655000	0.94253	AGC		0.493	KIAA0247-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412453.1		NM_014734	
LMO7	4008	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	76335071	76335071	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr13:76335071A>G	ENST00000341547.4	+	5	1630	c.370A>G	c.(370-372)Aat>Gat	p.N124D	LMO7_ENST00000526202.1_Missense_Mutation_p.N33D|LMO7_ENST00000377534.3_Missense_Mutation_p.N124D|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000357063.3_Missense_Mutation_p.N124D	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	124	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N124D(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTCACAGGATAATATAAACGT	0.368																																																	2	Substitution - Missense(2)	kidney(2)											73.0	71.0	72.0					13																	76335071		2203	4300	6503	SO:0001583	missense	4008			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.370A>G	13.37:g.76335071A>G	ENSP00000342112:p.Asn124Asp	Somatic		WXS	Illumina HiSeq	Phase_I	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000341547.4	37	CCDS9454.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.508281	0.85282	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000526202	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.74	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.88716	0.6512	M	0.90309	3.105	0.53005	D	0.999962	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.997;0.998	D	0.91042	0.4872	10	0.87932	D	0	-24.5939	15.8971	0.79344	1.0:0.0:0.0:0.0	.	33;124;72	E9PMS6;Q8WWI1-3;F8J2B5	.;.;.	D	124;124;124;72;33	ENSP00000342112:N124D;ENSP00000349571:N124D;ENSP00000366757:N124D;ENSP00000366719:N72D;ENSP00000431129:N33D	ENSP00000342112:N124D	N	+	1	0	LMO7	75233072	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.962000	0.93254	2.150000	0.67090	0.477000	0.44152	AAT		0.368	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1		NM_005358	
LOH12CR1	118426	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	12618552	12618552	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:12618552C>T	ENST00000314565.4	+	4	764	c.433C>T	c.(433-435)Cag>Tag	p.Q145*	LOH12CR1_ENST00000298571.6_Nonsense_Mutation_p.Q97*|LOH12CR1_ENST00000542728.1_Nonsense_Mutation_p.Q126*	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN	loss of heterozygosity, 12, chromosomal region 1	145								p.Q145*(1)		kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		GTATGCCGAGCAGATCCAGAA	0.527																																																	1	Substitution - Nonsense(1)	kidney(1)											105.0	79.0	88.0					12																	12618552		2203	4300	6503	SO:0001587	stop_gained	118426			AY037865	CCDS8649.1, CCDS73448.1	12p12	2008-07-03			ENSG00000165714	ENSG00000165714			17950	protein-coding gene	gene with protein product						11896457, 15284860	Standard	XR_242885		Approved	LOH1CR12	uc001ral.2	Q969J3	OTTHUMG00000168542	ENST00000314565.4:c.433C>T	12.37:g.12618552C>T	ENSP00000321546:p.Gln145*	Somatic		WXS	Illumina HiSeq	Phase_I	Q96QS5	Nonsense_Mutation	SNP	ENST00000314565.4	37	CCDS8649.1	.	.	.	.	.	.	.	.	.	.	C	37	6.284721	0.97440	.	.	ENSG00000165714	ENST00000542728;ENST00000314565;ENST00000298571	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-18.6243	19.7589	0.96306	0.0:1.0:0.0:0.0	.	.	.	.	X	126;145;97	.	ENSP00000298571:Q97X	Q	+	1	0	LOH12CR1	12509819	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	7.440000	0.80464	2.662000	0.90505	0.557000	0.71058	CAG		0.527	LOH12CR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400150.1			
LRRCC1	85444	broad.mit.edu;hgsc.bcm.edu	37	8	86019572	86019572	+	Silent	SNP	G	G	T			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr8:86019572G>T	ENST00000360375.3	+	1	191	c.42G>T	c.(40-42)gtG>gtT	p.V14V	LRRCC1_ENST00000414626.2_5'Flank	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	14					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V14V(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						aggcggAAGTGGAAAACGAAG	0.667																																																	1	Substitution - coding silent(1)	kidney(1)											25.0	40.0	35.0					8																	86019572		1916	4126	6042	SO:0001819	synonymous_variant	85444			BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.42G>T	8.37:g.86019572G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Silent	SNP	ENST00000360375.3	37	CCDS43750.1																																																																																				0.667	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1		NM_033402	
MPG	4350	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	133207	133207	+	Missense_Mutation	SNP	G	G	A	rs562548652		TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr16:133207G>A	ENST00000219431.4	+	4	703	c.472G>A	c.(472-474)Gtg>Atg	p.V158M	MPG_ENST00000397817.1_Missense_Mutation_p.V141M|NPRL3_ENST00000405960.3_5'Flank	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	158					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)	alkylbase DNA N-glycosylase activity (GO:0003905)|damaged DNA binding (GO:0003684)|DNA-3-methyladenine glycosylase activity (GO:0008725)|DNA-3-methylguanine glycosylase activity (GO:0052822)|DNA-7-methyladenine glycosylase activity (GO:0052821)|DNA-7-methylguanine glycosylase activity (GO:0043916)	p.V158M(1)		endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				GACCCTGTACGTGTACATCAT	0.642								Base excision repair (BER), DNA glycosylases					G|||	1	0.000199681	0.0	0.0	5008	,	,		17216	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											118.0	123.0	121.0					16																	133207		2203	4300	6503	SO:0001583	missense	4350				CCDS32345.1, CCDS32346.1, CCDS42087.1	16p13.3	2008-07-29			ENSG00000103152	ENSG00000103152	3.2.2.21		7211	protein-coding gene	gene with protein product	"""alkyladenine DNA glycosylase"""	156565				1874728	Standard	NM_002434		Approved	MDG	uc002cfo.4	P29372	OTTHUMG00000047887	ENST00000219431.4:c.472G>A	16.37:g.133207G>A	ENSP00000219431:p.Val158Met	Somatic		WXS	Illumina HiSeq	Phase_I	G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Missense_Mutation	SNP	ENST00000219431.4	37	CCDS32346.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914964	0.92178	.	.	ENSG00000103152	ENST00000436333;ENST00000397817;ENST00000356432;ENST00000219431	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.41	5.41	0.78517	Formyl transferase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.63082	0.2481	M	0.87456	2.885	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.69800	-0.5047	10	0.87932	D	0	-14.2049	18.167	0.89731	0.0:0.0:1.0:0.0	.	141;153;158	A2IDA3;Q5J9I4;P29372	.;.;3MG_HUMAN	M	141;141;153;158	ENSP00000388097:V141M;ENSP00000380918:V141M;ENSP00000348809:V153M;ENSP00000219431:V158M	ENSP00000219431:V158M	V	+	1	0	MPG	73207	1.000000	0.71417	0.964000	0.40570	0.927000	0.56198	7.917000	0.87498	2.529000	0.85273	0.462000	0.41574	GTG		0.642	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109121.4			
NRCAM	4897	hgsc.bcm.edu	37	7	107848033	107848033	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:107848033G>T	ENST00000425651.2	-	10	1145	c.1146C>A	c.(1144-1146)tgC>tgA	p.C382*	NRCAM_ENST00000379022.4_Nonsense_Mutation_p.C382*|NRCAM_ENST00000413765.2_Nonsense_Mutation_p.C363*|NRCAM_ENST00000379028.3_Nonsense_Mutation_p.C382*|NRCAM_ENST00000379024.4_Nonsense_Mutation_p.C363*|NRCAM_ENST00000351718.4_Nonsense_Mutation_p.C376*	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	382	Ig-like 4.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CATTAGCTCTGCAGATCAAGG	0.443																																																	0													98.0	92.0	94.0					7																	107848033		2203	4300	6503	SO:0001587	stop_gained	4897				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.1146C>A	7.37:g.107848033G>T	ENSP00000401244:p.Cys382*	Somatic		WXS	Illumina HiSeq	Phase_I	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Nonsense_Mutation	SNP	ENST00000425651.2	37	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	G	42	9.320899	0.99135	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979;ENST00000417701	.	.	.	5.78	4.9	0.64082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1128	0.72372	0.0679:0.0:0.9321:0.0	.	.	.	.	X	382;382;363;382;376;363;382;382;376;376	.	ENSP00000325269:C376X	C	-	3	2	NRCAM	107635269	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.038000	0.41184	1.594000	0.50039	0.655000	0.94253	TGC		0.443	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2		NM_001037132	
NUCB2	4925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	17351711	17351711	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:17351711T>C	ENST00000529010.1	+	12	1259	c.1040T>C	c.(1039-1041)cTa>cCa	p.L347P	NUCB2_ENST00000458064.2_Missense_Mutation_p.L317P|NUCB2_ENST00000323688.6_Missense_Mutation_p.L347P	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	347	Binds to necdin. {ECO:0000250}.					cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)	p.L347P(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GAGGAAGAACTAAAAGAATAT	0.308																																																	1	Substitution - Missense(1)	kidney(1)											29.0	27.0	28.0					11																	17351711		1812	4069	5881	SO:0001583	missense	4925			AF052642	CCDS41623.1	11p15.1	2013-01-10						"""EF-hand domain containing"""	8044	protein-coding gene	gene with protein product		608020				7811391	Standard	NM_005013		Approved	NEFA	uc001mmw.3	P80303		ENST00000529010.1:c.1040T>C	11.37:g.17351711T>C	ENSP00000436455:p.Leu347Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A8K642|D3DQX5|Q8NFT5	Missense_Mutation	SNP	ENST00000529010.1	37	CCDS41623.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.360492	0.82353	.	.	ENSG00000070081	ENST00000323688;ENST00000529010;ENST00000458064	T;T;T	0.26957	1.79;1.79;1.7	5.7	5.7	0.88788	.	0.052340	0.85682	D	0.000000	T	0.56761	0.2007	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64084	-0.6490	10	0.87932	D	0	-8.698	15.9645	0.79956	0.0:0.0:0.0:1.0	.	317;347	E7EV42;P80303	.;NUCB2_HUMAN	P	347;347;317	ENSP00000320168:L347P;ENSP00000436455:L347P;ENSP00000408702:L317P	ENSP00000320168:L347P	L	+	2	0	NUCB2	17308287	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.150000	0.77403	2.174000	0.68829	0.533000	0.62120	CTA		0.308	NUCB2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387614.2		NM_005013	
OBSCN	84033	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	228400286	228400286	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:228400286G>A	ENST00000422127.1	+	2	846	c.802G>A	c.(802-804)Gag>Aag	p.E268K	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.E268K|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.E268K|C1orf145_ENST00000295012.5_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	268	Ig-like 3.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.E268K(4)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCCAAGCCCGAGACGGTGTG	0.687																																																	4	Substitution - Missense(4)	kidney(4)											48.0	57.0	54.0					1																	228400286		2149	4230	6379	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.802G>A	1.37:g.228400286G>A	ENSP00000409493:p.Glu268Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	g	16.17	3.047392	0.55110	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.67698	-0.28;-0.28	4.26	4.26	0.50523	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.353687	0.26311	N	0.025106	T	0.66157	0.2761	N	0.21448	0.665	0.80722	D	1	D;D	0.67145	0.996;0.991	P;P	0.58331	0.837;0.539	T	0.63400	-0.6646	10	0.21540	T	0.41	.	16.7031	0.85364	0.0:0.0:1.0:0.0	.	268;268	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	K	268	ENSP00000284548:E268K;ENSP00000409493:E268K	ENSP00000284548:E268K	E	+	1	0	OBSCN	226466909	1.000000	0.71417	0.948000	0.38648	0.993000	0.82548	6.732000	0.74790	1.925000	0.55765	0.556000	0.70494	GAG		0.687	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_052843	
PCDHA6	56142	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140209828	140209828	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr5:140209828T>C	ENST00000529310.1	+	1	2266	c.2152T>C	c.(2152-2154)Tac>Cac	p.Y718H	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	718					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.Y718H(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACTGCTGTACACAGCGCT	0.692																																																	2	Substitution - Missense(2)	kidney(2)											53.0	52.0	52.0					5																	140209828		2202	4298	6500	SO:0001583	missense	56142			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2152T>C	5.37:g.140209828T>C	ENSP00000433378:p.Tyr718His	Somatic		WXS	Illumina HiSeq	Phase_I	O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	T	12.38	1.920883	0.33908	.	.	ENSG00000081842	ENST00000529310	T	0.21031	2.03	4.12	4.12	0.48240	.	0.243428	0.20999	U	0.081887	T	0.54806	0.1881	H	0.95365	3.66	0.36730	D	0.881665	P;D	0.71674	0.744;0.998	P;D	0.63033	0.485;0.91	T	0.73652	-0.3915	10	0.59425	D	0.04	.	13.2741	0.60178	0.0:0.0:0.0:1.0	.	718;718	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	H	718	ENSP00000433378:Y718H	ENSP00000433378:Y718H	Y	+	1	0	PCDHA6	140190012	0.025000	0.19082	0.879000	0.34478	0.055000	0.15305	1.877000	0.39598	1.868000	0.54150	0.254000	0.18369	TAC		0.692	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3		NM_018909	
PFAS	5198	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	8168629	8168629	+	Missense_Mutation	SNP	G	G	C	rs201768261		TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:8168629G>C	ENST00000314666.6	+	19	2437	c.2304G>C	c.(2302-2304)tgG>tgC	p.W768C	PFAS_ENST00000545834.1_Missense_Mutation_p.W344C	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	768					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)	p.W768C(1)		central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	GCGGGAACTGGATGTGGGCAG	0.627																																																	1	Substitution - Missense(1)	kidney(1)											73.0	74.0	74.0					17																	8168629		2202	4300	6502	SO:0001583	missense	5198			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.2304G>C	17.37:g.8168629G>C	ENSP00000313490:p.Trp768Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390871	0.82902	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.36340	1.26;1.94	5.89	5.89	0.94794	PurM, N-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.74160	0.3680	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82684	-0.0335	10	0.87932	D	0	-13.7655	17.75	0.88430	0.0:0.0:1.0:0.0	.	768	O15067	PUR4_HUMAN	C	344;768;177	ENSP00000441706:W344C;ENSP00000313490:W768C	ENSP00000313490:W768C	W	+	3	0	PFAS	8109354	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.874000	0.92363	2.797000	0.96272	0.563000	0.77884	TGG		0.627	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			
PLCE1	51196	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	96043555	96043555	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr10:96043555C>T	ENST00000371380.3	+	20	5039	c.4804C>T	c.(4804-4806)Ctg>Ttg	p.L1602L	PLCE1_ENST00000371375.1_Silent_p.L1294L|PLCE1-AS1_ENST00000425267.3_RNA|PLCE1_ENST00000260766.3_Silent_p.L1602L|PLCE1_ENST00000371385.3_Silent_p.L1294L|PLCE1-AS1_ENST00000440198.1_RNA|PLCE1-AS1_ENST00000596633.1_RNA			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1602					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.L1294L(1)|p.L1602L(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGACAACATTCTGGAAGACAG	0.373																																																	2	Substitution - coding silent(2)	kidney(2)											96.0	93.0	94.0					10																	96043555		1860	4089	5949	SO:0001819	synonymous_variant	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.4804C>T	10.37:g.96043555C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	CCDS41552.1																																																																																				0.373	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3		NM_016341	
PLEKHA8P1	51054	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	45568052	45568052	+	RNA	SNP	T	T	C			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr12:45568052T>C	ENST00000256692.5	-	0	633					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)	p.I33V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCACATCAATTCCCTCCTCA	0.428																																																	1	Substitution - Missense(1)	kidney(1)											233.0	225.0	228.0					12																	45568052		2203	4300	6503			0			AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"""putative glycolipid transfer protein"""		"""pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"""	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45568052T>C		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP	ENST00000256692.5	37																																																																																					0.428	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1		NR_037144	
PRODH2	58510	broad.mit.edu;ucsc.edu	37	19	36303703	36303703	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr19:36303703A>G	ENST00000301175.3	-	2	250	c.233T>C	c.(232-234)cTc>cCc	p.L78P		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	78					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)	p.L78P(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACAGGTCCGGAGCATCCTGGG	0.622																																																	1	Substitution - Missense(1)	kidney(1)											38.0	36.0	37.0					19																	36303703		2203	4299	6502	SO:0001583	missense	58510			U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.233T>C	19.37:g.36303703A>G	ENSP00000301175:p.Leu78Pro	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000301175.3	37	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.021182	0.54576	.	.	ENSG00000250799	ENST00000301175	T	0.36878	1.23	5.09	4.03	0.46877	.	.	.	.	.	T	0.21103	0.0508	L	0.27053	0.805	0.34467	D	0.702397	B	0.21381	0.055	B	0.17433	0.018	T	0.20273	-1.0280	9	0.24483	T	0.36	.	4.4087	0.11421	0.7351:0.0:0.0916:0.1733	.	78	Q9UF12	PROD2_HUMAN	P	78	ENSP00000301175:L78P	ENSP00000301175:L78P	L	-	2	0	PRODH2	40995543	0.923000	0.31300	0.531000	0.27976	0.101000	0.19017	2.618000	0.46393	2.135000	0.66039	0.482000	0.46254	CTC		0.622	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2		NM_021232	
SCAF8	22828	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	155123148	155123148	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:155123148C>A	ENST00000367178.3	+	7	1226	c.650C>A	c.(649-651)cCc>cAc	p.P217H	SCAF8_ENST00000417268.1_Missense_Mutation_p.P217H|SCAF8_ENST00000367186.4_Missense_Mutation_p.P283H	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	217	Gln-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)	p.P217H(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CAACAGAAGCCCCAGCCTTCC	0.428																																																	1	Substitution - Missense(1)	kidney(1)											78.0	82.0	81.0					6																	155123148		2203	4300	6503	SO:0001583	missense	0			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.650C>A	6.37:g.155123148C>A	ENSP00000356146:p.Pro217His	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969593	0.74246	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.52983	0.67;0.67;0.64	5.94	5.94	0.96194	.	0.000000	0.85682	U	0.000000	T	0.64034	0.2562	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.64058	-0.6496	10	0.72032	D	0.01	.	20.3736	0.98901	0.0:1.0:0.0:0.0	.	262;283;295;217	B7Z876;B7Z888;B7Z3A4;Q9UPN6	.;.;.;SCAF8_HUMAN	H	217;217;283	ENSP00000356146:P217H;ENSP00000413098:P217H;ENSP00000356154:P283H	ENSP00000356146:P217H	P	+	2	0	SCAF8	155164840	1.000000	0.71417	0.977000	0.42913	0.982000	0.71751	7.487000	0.81328	2.820000	0.97059	0.650000	0.86243	CCC		0.428	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1		NM_014892	
RBM28	55131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	127965927	127965927	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:127965927A>C	ENST00000223073.2	-	11	1261	c.1147T>G	c.(1147-1149)Ttc>Gtc	p.F383V	RBM28_ENST00000415472.2_Missense_Mutation_p.F242V	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	383	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.F383V(1)		breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TGAGTCATGAACTGGGCAAAT	0.443																																																	1	Substitution - Missense(1)	kidney(1)											70.0	64.0	66.0					7																	127965927		2203	4300	6503	SO:0001583	missense	55131			AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1147T>G	7.37:g.127965927A>C	ENSP00000223073:p.Phe383Val	Somatic		WXS	Illumina HiSeq	Phase_I	A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	CCDS5801.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.766369	0.90020	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.41400	1.0;1.0	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.76371	0.3978	H	0.97023	3.925	0.58432	D	0.999997	D;D	0.76494	0.999;0.997	D;D	0.83275	0.996;0.992	D	0.84405	0.0562	10	0.87932	D	0	-12.8565	14.7743	0.69713	1.0:0.0:0.0:0.0	.	242;383	E9PDD9;Q9NW13	.;RBM28_HUMAN	V	383;242	ENSP00000223073:F383V;ENSP00000390517:F242V	ENSP00000223073:F383V	F	-	1	0	RBM28	127753163	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.400000	0.79949	2.371000	0.80710	0.533000	0.62120	TTC		0.443	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2		NM_018077	
RERE	473	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	8419828	8419828	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:8419828G>A	ENST00000337907.3	-	20	4248	c.3614C>T	c.(3613-3615)gCg>gTg	p.A1205V	RERE_ENST00000377464.1_Missense_Mutation_p.A937V|RERE_ENST00000400908.2_Missense_Mutation_p.A1205V|RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Missense_Mutation_p.A651V	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1205					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A1205V(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ACTCACAGCCGCCCGCTCTGC	0.706																																																	1	Substitution - Missense(1)	kidney(1)											25.0	25.0	25.0					1																	8419828		2201	4299	6500	SO:0001583	missense	473			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.3614C>T	1.37:g.8419828G>A	ENSP00000338629:p.Ala1205Val	Somatic		WXS	Illumina HiSeq	Phase_I	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277107	0.40294	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.2	5.2	0.72013	.	.	.	.	.	T	0.41305	0.1153	M	0.68952	2.095	0.58432	D	0.999994	P	0.44429	0.835	B	0.36845	0.234	T	0.43718	-0.9374	9	0.39692	T	0.17	-16.0664	15.88	0.79197	0.0:0.0:1.0:0.0	.	1205	Q9P2R6	RERE_HUMAN	V	1205;937;651;1205	ENSP00000338629:A1205V;ENSP00000366684:A937V;ENSP00000422246:A651V;ENSP00000383700:A1205V	ENSP00000338629:A1205V	A	-	2	0	RERE	8342415	1.000000	0.71417	0.372000	0.25991	0.015000	0.08874	7.477000	0.81069	2.407000	0.81776	0.655000	0.94253	GCG		0.706	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			
RHOB	388	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	20647327	20647327	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:20647327A>G	ENST00000272233.4	+	1	493	c.101A>G	c.(100-102)tAc>tGc	p.Y34C		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	34					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|GTP catabolic process (GO:0006184)|negative regulation of cell cycle (GO:0045786)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|transformed cell apoptotic process (GO:0006927)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.Y34C(1)		breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	Botulinum Toxin Type A(DB00083)	CCCGAGGTGTACGTGCCCACC	0.637																																																	1	Substitution - Missense(1)	kidney(1)											110.0	111.0	110.0					2																	20647327		2203	4300	6503	SO:0001583	missense	388				CCDS1699.1	2p24	2012-02-27	2012-02-27	2004-03-24	ENSG00000143878	ENSG00000143878			668	protein-coding gene	gene with protein product	"""oncogene RHO H6"""	165370	"""ras homolog gene family, member B"""	ARH6, ARHB		3283705, 16278215	Standard	NM_004040		Approved	RhoB, RHOH6, MST081	uc002rdv.3	P62745	OTTHUMG00000090755	ENST00000272233.4:c.101A>G	2.37:g.20647327A>G	ENSP00000272233:p.Tyr34Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B2R692|P01121|Q5U0H6|Q7RTN5|Q7RTR9|Q9CUV7	Missense_Mutation	SNP	ENST00000272233.4	37	CCDS1699.1	.	.	.	.	.	.	.	.	.	.	A	16.15	3.042397	0.55003	.	.	ENSG00000143878	ENST00000272233	T	0.73047	-0.71	5.41	5.41	0.78517	Small GTP-binding protein domain (1);	0.000000	0.64402	U	0.000001	D	0.85869	0.5797	H	0.94698	3.57	0.80722	D	1	P	0.49185	0.92	P	0.54706	0.759	D	0.89823	0.3990	10	0.72032	D	0.01	-15.6521	15.7548	0.78015	1.0:0.0:0.0:0.0	.	34	P62745	RHOB_HUMAN	C	34	ENSP00000272233:Y34C	ENSP00000272233:Y34C	Y	+	2	0	RHOB	20510808	1.000000	0.71417	1.000000	0.80357	0.029000	0.11900	9.126000	0.94411	2.187000	0.69744	0.533000	0.62120	TAC		0.637	RHOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207500.1		NM_004040	
SCARNA2	677766	broad.mit.edu;hgsc.bcm.edu	37	1	109642843	109642843	+	lincRNA	SNP	C	C	A			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:109642843C>A	ENST00000458748.1	+	0	29					NR_003023.1				small Cajal body-specific RNA 2																		GGCCTGGGTCCTGGGTGTTGT	0.647																																																	0													20.0	20.0	20.0					1																	109642843		876	1991	2867			677766			BK005568		1q13.1	2013-09-05			ENSG00000238881	ENSG00000270066		"""ncRNAs / Small nucleolar RNAs : Small cajal body-specific"""	32558	non-coding RNA	RNA, small nucleolar						15556860	Standard	NR_003023		Approved	mgU2-25/61, HBII-382	uc001dwo.1				1.37:g.109642843C>A		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP	ENST00000458748.1	37																																																																																					0.647	SCARNA2-201	KNOWN	basic	snoRNA	lincRNA			NR_003023	
SETDB1	9869	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	150923430	150923430	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:150923430T>C	ENST00000271640.5	+	13	2267	c.2077T>C	c.(2077-2079)Tgt>Cgt	p.C693R	SETDB1_ENST00000368969.4_Missense_Mutation_p.C693R|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	693					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.C693R(1)		NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCCCTATCCTGTGTCAATGA	0.458																																																	1	Substitution - Missense(1)	kidney(1)											96.0	97.0	97.0					1																	150923430		2203	4300	6503	SO:0001583	missense	9869			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.2077T>C	1.37:g.150923430T>C	ENSP00000271640:p.Cys693Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.095896	0.76870	.	.	ENSG00000143379	ENST00000271640;ENST00000368969;ENST00000498193	T;T;T	0.76709	-1.04;-1.04;-1.04	5.66	5.66	0.87406	Pre-SET zinc-binding sub-group (1);Pre-SET domain (1);	0.087163	0.85682	D	0.000000	D	0.88016	0.6324	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.997	D;D;D	0.91635	0.999;0.994;0.996	D	0.90351	0.4366	10	0.72032	D	0.01	.	15.0838	0.72135	0.0:0.0:0.0:1.0	.	693;693;693	E9PRF4;Q15047-3;Q15047	.;.;SETB1_HUMAN	R	693	ENSP00000271640:C693R;ENSP00000357965:C693R;ENSP00000432348:C693R	ENSP00000271640:C693R	C	+	1	0	SETDB1	149190054	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.992000	0.88273	2.146000	0.66826	0.533000	0.62120	TGT		0.458	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			
SLC13A2	9058	hgsc.bcm.edu	37	17	26822695	26822696	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr17:26822695_26822696insG	ENST00000314669.5	+	10	1751_1752	c.1331_1332insG	c.(1330-1335)ctgggafs	p.LG444fs	SLC13A2_ENST00000545060.1_Frame_Shift_Ins_p.LG401fs|SLC13A2_ENST00000444914.3_Frame_Shift_Ins_p.LG493fs|SLC13A2_ENST00000537681.1_Frame_Shift_Ins_p.LG373fs	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	444					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TCAGAGTGGCTGGGAAACAAGC	0.619																																																	0																																										SO:0001589	frameshift_variant	9058			U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.1334dupG	17.37:g.26822698_26822698dupG	ENSP00000316202:p.Leu444fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Frame_Shift_Ins	INS	ENST00000314669.5	37	CCDS11231.1																																																																																				0.619	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1		NM_003984	
SRC	6714	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	36024642	36024642	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr20:36024642G>A	ENST00000373578.2	+	8	980	c.631G>A	c.(631-633)Gac>Aac	p.D211N	SRC_ENST00000373567.2_Missense_Mutation_p.D211N|SRC_ENST00000358208.4_Missense_Mutation_p.D211N|SRC_ENST00000360723.4_Missense_Mutation_p.D217N|SRC_ENST00000445403.1_Missense_Mutation_p.D211N|SRC_ENST00000373558.2_Missense_Mutation_p.D217N	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	211	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)	p.D211N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	CCGCAAGCTGGACAGCGGCGG	0.642																																																	1	Substitution - Missense(1)	kidney(1)											83.0	78.0	80.0					20																	36024642		2203	4300	6503	SO:0001583	missense	6714			AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"""SH2 domain containing"""	11283	protein-coding gene	gene with protein product		190090	"""v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"""	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.631G>A	20.37:g.36024642G>A	ENSP00000362680:p.Asp211Asn	Somatic		WXS	Illumina HiSeq	Phase_I	E1P5V4|Q76P87|Q86VB9|Q9H5A8	Missense_Mutation	SNP	ENST00000373578.2	37	CCDS13294.1	.	.	.	.	.	.	.	.	.	.	g	37	6.218148	0.97385	.	.	ENSG00000197122	ENST00000445403;ENST00000373578;ENST00000360723;ENST00000358208;ENST00000373567;ENST00000373558	D;D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	5.24	5.24	0.73138	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.91696	0.7375	M	0.86420	2.815	0.80722	D	1	P	0.36330	0.548	B	0.40864	0.342	D	0.92717	0.6188	10	0.87932	D	0	.	16.3664	0.83331	0.0:0.0:1.0:0.0	.	211	P12931	SRC_HUMAN	N	211;211;217;211;211;217	ENSP00000408503:D211N;ENSP00000362680:D211N;ENSP00000353950:D217N;ENSP00000350941:D211N;ENSP00000362668:D211N;ENSP00000362659:D217N	ENSP00000350941:D211N	D	+	1	0	SRC	35458056	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.657000	0.98554	2.730000	0.93505	0.556000	0.70494	GAC		0.642	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268142.1		NM_005417	
TP53I3	9540	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	24307066	24307066	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:24307066A>G	ENST00000238721.4	-	1	985	c.131T>C	c.(130-132)tTa>tCa	p.L44S	TP53I3_ENST00000417886.1_5'UTR|TP53I3_ENST00000313482.4_Missense_Mutation_p.L44S|TP53I3_ENST00000407482.1_Missense_Mutation_p.L44S|TP53I3_ENST00000335934.4_Missense_Mutation_p.L44S|FAM228B_ENST00000461972.1_Intron	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	44					NADP metabolic process (GO:0006739)	extracellular vesicular exosome (GO:0070062)	NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)	p.L44S(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACCTGCATTAAGTCCGCCCG	0.667											OREG0014492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											29.0	31.0	30.0					2																	24307066		2203	4300	6503	SO:0001583	missense	9540			AF010309	CCDS1708.1, CCDS56112.1	2p23.3	2009-06-12			ENSG00000115129	ENSG00000115129			19373	protein-coding gene	gene with protein product		605171				11919562, 10840161, 19349281	Standard	NM_004881		Approved	PIG3	uc002rez.2	Q53FA7	OTTHUMG00000090817	ENST00000238721.4:c.131T>C	2.37:g.24307066A>G	ENSP00000238721:p.Leu44Ser	Somatic	770	WXS	Illumina HiSeq	Phase_I	D6W533|O14679|O14685|Q38G78|Q6JLE7|Q9BWB8	Missense_Mutation	SNP	ENST00000238721.4	37	CCDS1708.1	.	.	.	.	.	.	.	.	.	.	A	17.39	3.378774	0.61735	.	.	ENSG00000115129	ENST00000335934;ENST00000238721;ENST00000313482;ENST00000407482;ENST00000413037	T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19	5.3	4.14	0.48551	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.382752	0.23534	N	0.047156	T	0.25901	0.0631	M	0.76727	2.345	0.20196	N	0.99993	D;D	0.71674	0.998;0.997	D;D	0.72982	0.957;0.979	T	0.04203	-1.0969	10	0.87932	D	0	-15.8864	10.1286	0.42665	0.9198:0.0:0.0802:0.0	.	44;44	Q53FA7;Q53FA7-2	QORX_HUMAN;.	S	44;44;44;44;39	ENSP00000337834:L44S;ENSP00000238721:L44S;ENSP00000322298:L44S;ENSP00000384414:L44S;ENSP00000389620:L39S	ENSP00000238721:L44S	L	-	2	0	TP53I3	24160570	0.399000	0.25287	0.002000	0.10522	0.448000	0.32197	4.175000	0.58263	0.964000	0.38108	0.533000	0.62120	TTA		0.667	TP53I3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207618.2		NM_004881	
TMEM214	54867	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	27258869	27258869	+	Silent	SNP	C	C	T			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr2:27258869C>T	ENST00000238788.9	+	5	731	c.669C>T	c.(667-669)atC>atT	p.I223I	TMEM214_ENST00000404032.3_Silent_p.I178I	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	223					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.I223I(1)		kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCATCTGTATCCAGGCCATCC	0.512																																																	1	Substitution - coding silent(1)	kidney(1)											98.0	99.0	99.0					2																	27258869		2114	4241	6355	SO:0001819	synonymous_variant	54867				CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.669C>T	2.37:g.27258869C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Silent	SNP	ENST00000238788.9	37	CCDS42664.1																																																																																				0.512	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1		NM_017727	
TUBB	203068	hgsc.bcm.edu;ucsc.edu	37	6	30691536	30691543	+	Frame_Shift_Del	DEL	ATGAGTGG	ATGAGTGG	-			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	ATGAGTGG	ATGAGTGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:30691536_30691543delATGAGTGG	ENST00000327892.8	+	4	1003_1010	c.697_704delATGAGTGG	c.(697-705)atgagtggtfs	p.MSG233fs	XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000396384.1_Frame_Shift_Del_p.MSG161fs|TUBB_ENST00000396389.1_Frame_Shift_Del_p.MSG215fs|TUBB_ENST00000435534.1_Intron|TUBB_ENST00000330914.3_Frame_Shift_Del_p.MSG161fs	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	233					cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	CTCAGCCACCATGAGTGGTGTCACCACC	0.543																																																	0																																										SO:0001589	frameshift_variant	203068			AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"""Tubulins"""	20778	protein-coding gene	gene with protein product	"""class I beta-tubulin"", ""beta1-tubulin"""	191130	"""tubulin, beta polypeptide"", ""tubulin, beta"""			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059	ENST00000327892.8:c.697_704delATGAGTGG	6.37:g.30691536_30691543delATGAGTGG	ENSP00000339001:p.Met233fs	Somatic		WXS	Illumina HiSeq	Phase_I	P05218|Q8WUC1|Q9CY33	Frame_Shift_Del	DEL	ENST00000327892.8	37	CCDS4687.1																																																																																				0.543	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076074.2		NM_178014	
UNC5CL	222643	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	41002736	41002736	+	Silent	SNP	A	A	G			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr6:41002736A>G	ENST00000373164.1	-	1	138	c.78T>C	c.(76-78)ctT>ctC	p.L26L	UNC5CL_ENST00000244565.3_Silent_p.L26L|UNC5CL_ENST00000470102.1_5'Flank			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	26					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)	p.L26L(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					ATTGGGCCAGAAGGAGGACAC	0.602																																																	1	Substitution - coding silent(1)	kidney(1)											60.0	55.0	57.0					6																	41002736		2203	4300	6503	SO:0001819	synonymous_variant	222643			BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"""ZU5 and death domain containing"""					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.78T>C	6.37:g.41002736A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q5TGU1	Silent	SNP	ENST00000373164.1	37	CCDS4847.1																																																																																				0.602	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1		NM_173561	
VAV2	7410	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	136649535	136649535	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr9:136649535T>C	ENST00000371850.3	-	18	1569	c.1538A>G	c.(1537-1539)aAc>aGc	p.N513S	VAV2_ENST00000406606.3_Missense_Mutation_p.N503S|VAV2_ENST00000371851.1_Missense_Mutation_p.N503S	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	513					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N503S(1)|p.N513S(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TGGCTTGATGTTTGACCTGGC	0.552																																																	2	Substitution - Missense(2)	kidney(2)											392.0	322.0	346.0					9																	136649535		2203	4300	6503	SO:0001583	missense	7410				CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.1538A>G	9.37:g.136649535T>C	ENSP00000360916:p.Asn513Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	CCDS48053.1	.	.	.	.	.	.	.	.	.	.	T	18.86	3.713483	0.68730	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	D;D;D	0.88277	-2.36;-2.36;-2.36	3.9	3.9	0.45041	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	D	0.91955	0.7452	L	0.53561	1.675	0.80722	D	1	D;D;D	0.76494	0.968;0.999;0.968	P;D;P	0.74674	0.824;0.984;0.735	D	0.91752	0.5413	10	0.51188	T	0.08	.	12.7302	0.57193	0.0:0.0:0.0:1.0	.	503;513;503	P52735-2;P52735;P52735-3	.;VAV2_HUMAN;.	S	513;503;503;503	ENSP00000360916:N513S;ENSP00000360917:N503S;ENSP00000385362:N503S	ENSP00000317258:N503S	N	-	2	0	VAV2	135639356	1.000000	0.71417	0.999000	0.59377	0.846000	0.48090	7.866000	0.87056	1.390000	0.46547	0.379000	0.24179	AAC		0.552	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			
WLS	79971	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	68611602	68611602	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:68611602T>C	ENST00000262348.4	-	9	1481	c.1228A>G	c.(1228-1230)Aag>Gag	p.K410E	GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000370976.3_Missense_Mutation_p.K319E|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000354777.2_Missense_Mutation_p.K408E|WLS_ENST00000540432.1_Missense_Mutation_p.K410E|WLS_ENST00000491811.1_5'UTR	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	410					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.K410E(1)|p.K408E(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						CTGGACTGCTTCCCACTGATG	0.517																																																	2	Substitution - Missense(2)	kidney(2)											152.0	142.0	146.0					1																	68611602		2203	4300	6503	SO:0001583	missense	79971			BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.1228A>G	1.37:g.68611602T>C	ENSP00000262348:p.Lys410Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Missense_Mutation	SNP	ENST00000262348.4	37	CCDS642.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.035990	0.93630	.	.	ENSG00000116729	ENST00000540432;ENST00000354777;ENST00000262348;ENST00000370976	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.62392	0.2424	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.997;0.984;0.998;0.997	T	0.68368	-0.5427	10	0.72032	D	0.01	-27.9899	15.3914	0.74747	0.0:0.0:0.0:1.0	.	410;319;410;408	F5H4K0;Q5JRS7;Q5T9L3;Q5T9L3-2	.;.;WLS_HUMAN;.	E	410;408;410;319	ENSP00000446112:K410E;ENSP00000346829:K408E;ENSP00000262348:K410E;ENSP00000360015:K319E	ENSP00000262348:K410E	K	-	1	0	WLS	68384190	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.042000	0.60477	0.533000	0.62120	AAG		0.517	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025368.1		NM_024911	
ZNF732	654254	broad.mit.edu;ucsc.edu	37	4	265156	265156	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr4:265156G>C	ENST00000419098.1	-	4	1500	c.1490C>G	c.(1489-1491)aCt>aGt	p.T497S		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	497					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.T497S(1)		endometrium(1)|lung(2)	3						TTTCTCTCCAGTATGAATTGT	0.378																																																	1	Substitution - Missense(1)	kidney(1)											60.0	55.0	56.0					4																	265156		692	1591	2283	SO:0001583	missense	654254			AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"""Zinc fingers, C2H2-type"", ""-"""	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.1490C>G	4.37:g.265156G>C	ENSP00000415774:p.Thr497Ser	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000419098.1	37	CCDS46990.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728488	0.30593	.	.	ENSG00000186777	ENST00000419098	T	0.24151	1.87	0.977	-0.566	0.11767	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12433	0.0302	N	0.12831	0.26	0.24725	N	0.993126	B	0.21688	0.059	B	0.18263	0.021	T	0.23261	-1.0193	9	0.51188	T	0.08	.	5.3022	0.15783	0.2526:0.0:0.7474:0.0	.	497	B4DXR9	ZN732_HUMAN	S	497	ENSP00000415774:T497S	ENSP00000415774:T497S	T	-	2	0	ZNF732	255156	0.044000	0.20184	0.073000	0.20177	0.068000	0.16541	1.088000	0.30877	-0.502000	0.06596	-0.497000	0.04613	ACT		0.378	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2		NM_001137608	
ATG9B	285973	broad.mit.edu	37	7	150715068	150715068	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:150715068G>A	ENST00000377974.2	-	8	2017	c.1942C>T	c.(1942-1944)Cgt>Tgt	p.R648C	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_Missense_Mutation_p.R134C|ATG9B_ENST00000605938.1_Missense_Mutation_p.R648C			Q674R7	ATG9B_HUMAN	autophagy related 9B	648					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)		p.R648C(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCAGGGCACGAGGGCGGAAC	0.592											OREG0018444	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											48.0	55.0	53.0					7																	150715068		2048	4174	6222	SO:0001583	missense	285973			AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.1942C>T	7.37:g.150715068G>A	ENSP00000475005:p.Arg648Cys	Somatic	1734	WXS	Illumina GAIIx	Phase_I	A1A5D3|Q6JRW5|Q8N8I8	Missense_Mutation	SNP	ENST00000377974.2	37		.	.	.	.	.	.	.	.	.	.	G	17.25	3.343059	0.61073	.	.	ENSG00000248602	ENST00000377974;ENST00000444312;ENST00000397266	.	.	.	5.52	4.64	0.57946	.	0.068176	0.56097	D	0.000024	T	0.25827	0.0629	.	.	.	.	.	.	P	0.47191	0.891	B	0.37508	0.252	T	0.33471	-0.9867	7	0.20046	T	0.44	0.4673	9.4762	0.38873	0.0:0.1557:0.6828:0.1614	.	648	Q674R7	ATG9B_HUMAN	C	648;134;648	.	ENSP00000444232:R648C	R	-	1	0	AC010973.1	150346001	0.999000	0.42202	0.285000	0.24819	0.989000	0.77384	3.358000	0.52284	1.315000	0.45114	0.563000	0.77884	CGT		0.592	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_173681	
FAM41C	284593	broad.mit.edu	37	1	809846	809846	+	lincRNA	SNP	A	A	G			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr1:809846A>G	ENST00000446136.1	-	0	847					NR_027055.1				family with sequence similarity 41, member C																		GCTGCATTTTAAAGCACTTTT	0.453																																																	0																																												284593			BC047940		1p36.33	2013-01-16	2011-08-31	2011-08-31	ENSG00000230368	ENSG00000230368		"""Long non-coding RNAs"""	27635	non-coding RNA	RNA, long non-coding						12477932	Standard	NR_027055		Approved		uc001abt.4		OTTHUMG00000002469		1.37:g.809846A>G		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000446136.1	37																																																																																					0.453	FAM41C-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000007021.1		NR_027055	
MUC2	4583	broad.mit.edu	37	11	1093448	1093448	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr11:1093448C>A	ENST00000441003.2	+	30	5294	c.5267C>A	c.(5266-5268)aCc>aAc	p.T1756N	MUC2_ENST00000333592.6_Missense_Mutation_p.T44N|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.T1723N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.T1756N(3)|p.T1723N(3)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	gtgaccccaaccccgacaccc	0.622																																																	6	Substitution - Missense(6)	kidney(6)											133.0	160.0	151.0					11																	1093448		2049	4049	6098	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5267C>A	11.37:g.1093448C>A	ENSP00000415183:p.Thr1756Asn	Somatic		WXS	Illumina GAIIx	Phase_I	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	7.928	0.739947	0.15642	.	.	ENSG00000198788	ENST00000441003;ENST00000359061;ENST00000333592	T;T;T	0.12465	2.73;2.68;2.81	1.81	0.625	0.17665	.	1.255720	0.06522	U	0.739910	T	0.10852	0.0265	.	.	.	0.09310	N	1	B	0.16802	0.019	B	0.15052	0.012	T	0.35176	-0.9799	9	0.62326	D	0.03	.	6.7886	0.23687	0.2734:0.7266:0.0:0.0	.	1756	E7EUV1	.	N	1756;1723;44	ENSP00000415183:T1756N;ENSP00000351956:T1723N;ENSP00000331373:T44N	ENSP00000331373:T44N	T	+	2	0	MUC2	1083448	0.012000	0.17670	0.001000	0.08648	0.007000	0.05969	0.908000	0.28545	1.004000	0.39156	0.195000	0.17529	ACC		0.622	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2		NM_002457	
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659|rs547816245|rs532078953	byFrequency	TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	GGCGAC	GGCGAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr7:131241030_131241035delGGCGAC	ENST00000378555.3	-	1	331_336	c.84_89delGTCGCC	c.(82-90)ccgtcgccc>ccc	p.28_30PSP>P	PODXL_ENST00000537928.1_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000322985.9_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000541194.1_In_Frame_Del_p.28_30PSP>P			O00592	PODXL_HUMAN	podocalyxin-like	28					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748																																																	2	Deletion - In frame(2)	prostate(2)																																								SO:0001651	inframe_deletion	5420				CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.84_89delGTCGCC	7.37:g.131241036_131241041delGGCGAC	ENSP00000367817:p.Pro30_Ser31del	Somatic		WXS	Illumina GAIIx	Phase_I	A6NHX8|Q52LZ7|Q53ER6	In_Frame_Del	DEL	ENST00000378555.3	37	CCDS34755.1																																																																																				0.748	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2		NM_001018111	
TPTE	7179	broad.mit.edu	37	21	11014987	11014987	+	5'UTR	SNP	A	A	G			TCGA-A3-3363-01A-01D-0966-08	TCGA-A3-3363-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dac639-c2e5-447d-99c5-c6a3e15538fe	fecea611-a48c-4eb9-bd43-c8f829d9ddaf	g.chr21:11014987A>G	ENST00000415664.2	-	0	758							P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTATAGTTTCAATAGCAGACT	0.388																																																	0																																										SO:0001623	5_prime_UTR_variant	7179			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000415664.2:c.-2578T>C	21.37:g.11014987A>G		Somatic		WXS	Illumina GAIIx	Phase_I	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	RNA	SNP	ENST00000415664.2	37																																																																																					0.388	TPTE-006	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000340030.1			
