#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
ACSM5	54988	hgsc.bcm.edu;ucsc.edu	37	16	20435331	20435332	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr16:20435331_20435332insA	ENST00000331849.4	+	6	1008_1009	c.861_862insA	c.(862-864)aatfs	p.N288fs		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	288					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CTGCCTGGCCTAATGGATCTTG	0.505																																																	0																																										SO:0001589	frameshift_variant	54988				CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.863dupA	16.37:g.20435333_20435333dupA	ENSP00000327916:p.Asn288fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q96AV1|Q96CX8|Q9NWV3	Frame_Shift_Ins	INS	ENST00000331849.4	37	CCDS10585.1																																																																																				0.505	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1		NM_017888	
AGGF1	55109	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	76342255	76342255	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr5:76342255G>T	ENST00000312916.7	+	6	1336	c.954G>T	c.(952-954)aaG>aaT	p.K318N		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	318					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)	p.K318N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		ATATGAAAAAGAAGGCCAAAA	0.393																																																	1	Substitution - Missense(1)	kidney(1)											109.0	117.0	114.0					5																	76342255		2203	4300	6503	SO:0001583	missense	55109			AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.954G>T	5.37:g.76342255G>T	ENSP00000316109:p.Lys318Asn	Somatic		WXS	Illumina HiSeq	Phase_I	O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	ENST00000312916.7	37	CCDS4035.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852960	0.32699	.	.	ENSG00000164252	ENST00000312916	T	0.39997	1.05	5.29	5.29	0.74685	.	0.108901	0.64402	D	0.000008	T	0.33352	0.0860	L	0.39898	1.24	0.80722	D	1	P	0.43094	0.799	B	0.37508	0.252	T	0.24083	-1.0170	10	0.72032	D	0.01	-23.083	11.5679	0.50815	0.0826:0.0:0.9174:0.0	.	318	Q8N302	AGGF1_HUMAN	N	318	ENSP00000316109:K318N	ENSP00000316109:K318N	K	+	3	2	AGGF1	76378011	1.000000	0.71417	1.000000	0.80357	0.186000	0.23388	3.210000	0.51129	2.470000	0.83445	0.591000	0.81541	AAG		0.393	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2		NM_018046	
ARHGEF11	9826	hgsc.bcm.edu;ucsc.edu	37	1	156914213	156914214	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	TA	TA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr1:156914213_156914214delTA	ENST00000361409.2	-	30	3625_3626	c.2883_2884delTA	c.(2881-2886)cttacafs	p.T963fs	ARHGEF11_ENST00000315174.8_Frame_Shift_Del_p.T379fs|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000368194.3_Frame_Shift_Del_p.T1003fs	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	963					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTTCTGGTTGTAAGATCCAGGC	0.465																																																	0																																										SO:0001589	frameshift_variant	9826			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.2883_2884delTA	1.37:g.156914213_156914214delTA	ENSP00000354644:p.Thr963fs	Somatic		WXS	Illumina HiSeq	Phase_I	D3DVD0|Q5VY40|Q6PFW2	Frame_Shift_Del	DEL	ENST00000361409.2	37	CCDS1162.1																																																																																				0.465	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1		NM_198236	
AHCTF1	25909	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	247081660	247081660	+	Silent	SNP	T	T	G			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr1:247081660T>G	ENST00000391829.2	-	2	136	c.13A>C	c.(13-15)Aga>Cga	p.R5R	AHCTF1_ENST00000366508.1_Silent_p.R40R|AHCTF1_ENST00000326225.3_Silent_p.R14R			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	5	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R5R(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ACTTGAGCTCTTAAGTCTCGC	0.373																																					Colon(145;197 1800 4745 15099 26333)												1	Substitution - coding silent(1)	kidney(1)											60.0	56.0	58.0					1																	247081660		2203	4300	6503	SO:0001819	synonymous_variant	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.13A>C	1.37:g.247081660T>G		Somatic		WXS	Illumina HiSeq	Phase_I	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Silent	SNP	ENST00000391829.2	37																																																																																					0.373	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_015446	
ARHGEF6	9459	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	135829736	135829736	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chrX:135829736C>T	ENST00000250617.6	-	3	1470	c.265G>A	c.(265-267)Gac>Aac	p.D89N	ARHGEF6_ENST00000370622.1_5'UTR|ARHGEF6_ENST00000370620.1_5'UTR|ARHGEF6_ENST00000535227.1_5'UTR	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	89	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D89N(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GAATAAAGGTCATCAGGATCA	0.393																																																	1	Substitution - Missense(1)	kidney(1)											72.0	65.0	67.0					X																	135829736		2203	4300	6503	SO:0001583	missense	9459			D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.265G>A	X.37:g.135829736C>T	ENSP00000250617:p.Asp89Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710791	0.89112	.	.	ENSG00000129675	ENST00000250617	D	0.97480	-4.4	5.57	5.57	0.84162	Calponin homology domain (5);	0.162241	0.64402	D	0.000012	D	0.98899	0.9627	H	0.94808	3.585	0.80722	D	1	P	0.42973	0.796	D	0.63703	0.917	D	0.99136	1.0854	10	0.52906	T	0.07	.	17.4108	0.87485	0.0:1.0:0.0:0.0	.	89	Q15052	ARHG6_HUMAN	N	89	ENSP00000250617:D89N	ENSP00000250617:D89N	D	-	1	0	ARHGEF6	135657402	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.455000	0.44988	2.325000	0.78763	0.529000	0.55759	GAC		0.393	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2		NM_004840	
ATF7IP2	80063	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	10524570	10524570	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr16:10524570G>C	ENST00000396560.2	+	3	320	c.93G>C	c.(91-93)aaG>aaC	p.K31N	ATF7IP2_ENST00000396559.1_Missense_Mutation_p.K31N|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.K31N|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.K31N|ATF7IP2_ENST00000543967.1_Intron	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	31					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.K31N(1)		large_intestine(3)	3						TGCTGAATAAGTCAAGGAATG	0.403																																																	1	Substitution - Missense(1)	kidney(1)											82.0	77.0	79.0					16																	10524570		2197	4300	6497	SO:0001583	missense	80063			AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.93G>C	16.37:g.10524570G>C	ENSP00000379808:p.Lys31Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053632	0.55218	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T	0.34859	1.34;1.34	4.73	1.49	0.22878	.	0.124740	0.35970	N	0.002869	T	0.45796	0.1360	L	0.47716	1.5	0.24408	N	0.994678	D;D	0.89917	0.998;1.0	D;D	0.87578	0.964;0.998	T	0.15925	-1.0420	10	0.87932	D	0	-9.3919	5.9122	0.19035	0.3421:0.0:0.6579:0.0	.	31;31	Q5U623-2;Q5U623	.;MCAF2_HUMAN	N	31	ENSP00000379808:K31N;ENSP00000348799:K31N	ENSP00000322811:K31N	K	+	3	2	ATF7IP2	10432071	0.993000	0.37304	0.997000	0.53966	0.799000	0.45148	1.519000	0.35888	0.607000	0.29982	0.467000	0.42956	AAG		0.403	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1		NM_024997	
ATP8A1	10396	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	42581897	42581897	+	Silent	SNP	G	G	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr4:42581897G>T	ENST00000381668.5	-	11	1164	c.933C>A	c.(931-933)gtC>gtA	p.V311V	ATP8A1_ENST00000264449.10_Silent_p.V311V	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	311					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.V311V(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CCACAGAACAGACAAGAGACA	0.363																																																	2	Substitution - coding silent(2)	kidney(2)											76.0	76.0	76.0					4																	42581897		2203	4300	6503	SO:0001819	synonymous_variant	10396			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.933C>A	4.37:g.42581897G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q32M35|Q32M36|Q4W5J7|Q4W5P2	Silent	SNP	ENST00000381668.5	37	CCDS3466.1																																																																																				0.363	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2		NM_006095	
BAP1	8314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52439311	52439311	+	Splice_Site	SNP	C	C	A	rs9848343		TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr3:52439311C>A	ENST00000460680.1	-	11	1403		c.e11-1		BAP1_ENST00000296288.5_Splice_Site	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TCTGCACCATCTGAGACAGGG	0.582			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)			Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Unknown(1)	kidney(1)											81.0	84.0	83.0					3																	52439311		2203	4300	6503	SO:0001630	splice_region_variant	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.932-1G>T	3.37:g.52439311C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Splice_Site	SNP	ENST00000460680.1	37	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196907	0.79015	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0263	0.89270	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BAP1	52414351	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.914000	0.69964	2.707000	0.92482	0.655000	0.94253	.		0.582	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			Intron
BDH2	56898	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	104016427	104016427	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr4:104016427T>A	ENST00000296424.4	-	3	204	c.84A>T	c.(82-84)agA>agT	p.R28S		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	28					epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|heme metabolic process (GO:0042168)|iron ion homeostasis (GO:0055072)|siderophore biosynthetic process (GO:0019290)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)	p.R28S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		TGGCACCTTCTCTTGCAAAAG	0.393																																																	1	Substitution - Missense(1)	kidney(1)											113.0	107.0	109.0					4																	104016427		2203	4300	6503	SO:0001583	missense	56898			AF164790	CCDS3663.1	4q24	2011-09-14			ENSG00000164039	ENSG00000164039	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	32389	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 15C, member 1"""		"""dehydrogenase/reductase (SDR family) member 6"""	DHRS6		16380372, 19027726	Standard	XM_005263140		Approved	UCPA-OR, FLJ13261, UNQ6308, PRO20933, SDR15C1	uc003hwz.3	Q9BUT1	OTTHUMG00000074039	ENST00000296424.4:c.84A>T	4.37:g.104016427T>A	ENSP00000296424:p.Arg28Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8	Missense_Mutation	SNP	ENST00000296424.4	37	CCDS3663.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.113167	0.56398	.	.	ENSG00000164039	ENST00000296424;ENST00000504285;ENST00000509245	T;T;D	0.87491	0.99;0.66;-2.26	5.0	3.79	0.43588	NAD(P)-binding domain (1);	0.304588	0.39341	N	0.001394	T	0.76378	0.3979	N	0.21142	0.635	0.46981	D	0.999273	B	0.06786	0.001	B	0.06405	0.002	T	0.66976	-0.5787	10	0.29301	T	0.29	.	8.7239	0.34458	0.3035:0.0:0.0:0.6965	.	28	Q9BUT1	BDH2_HUMAN	S	28	ENSP00000296424:R28S;ENSP00000427442:R28S;ENSP00000422891:R28S	ENSP00000296424:R28S	R	-	3	2	BDH2	104235876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.830000	0.48136	0.830000	0.34757	0.460000	0.39030	AGA		0.393	BDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157159.2		NM_020139	
PAGR1	79447	broad.mit.edu	37	16	29831005	29831005	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr16:29831005A>C	ENST00000320330.6	+	3	1257	c.695A>C	c.(694-696)gAc>gCc	p.D232A	PAGR1_ENST00000609618.1_Missense_Mutation_p.D232A|MVP_ENST00000452209.2_5'Flank|MVP_ENST00000357402.5_5'Flank|AC009133.20_ENST00000569039.1_RNA|AC009133.12_ENST00000564980.1_RNA|MVP_ENST00000395353.1_5'Flank|AC009133.12_ENST00000569809.1_RNA			Q9BTK6	PAGR1_HUMAN	PAXIP1 associated glutamate-rich protein 1	232						histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)		p.D232A(1)									GACTCGGAGGACCCCAGCCCC	0.627																																																	1	Substitution - Missense(1)	kidney(1)											63.0	68.0	66.0					16																	29831005		2197	4300	6497	SO:0001583	missense	0			BC003640	CCDS10655.1	16p11.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000185928	ENSG00000185928			28707	protein-coding gene	gene with protein product	"""glutamate-rich coactivator interacting with SRC1/NCOA1"", ""PTIP-associated 1 protein"", ""glutamate-rich coactivator associated with SRC1"""	612033	"""chromosome 16 open reading frame 53"""	C16orf53		17500065, 19039327	Standard	NM_024516		Approved	MGC4606, GAS, PA1	uc002dug.4	Q9BTK6	OTTHUMG00000132117	ENST00000320330.6:c.695A>C	16.37:g.29831005A>C	ENSP00000326519:p.Asp232Ala	Somatic		WXS	Illumina GAIIx	Phase_I	A2ICR6	Missense_Mutation	SNP	ENST00000320330.6	37	CCDS10655.1	.	.	.	.	.	.	.	.	.	.	A	10.43	1.346782	0.24426	.	.	ENSG00000185928	ENST00000320330	.	.	.	5.82	2.26	0.28386	.	0.569994	0.19944	N	0.102589	T	0.21674	0.0522	N	0.22421	0.69	0.27834	N	0.941339	B	0.12630	0.006	B	0.12837	0.008	T	0.21280	-1.0250	9	0.12766	T	0.61	-5.3423	3.8337	0.08885	0.6689:0.0:0.1747:0.1564	.	232	Q9BTK6	PA1_HUMAN	A	232	.	ENSP00000326519:D232A	D	+	2	0	C16orf53	29738506	0.999000	0.42202	0.997000	0.53966	0.490000	0.33462	1.793000	0.38764	0.111000	0.17947	0.533000	0.62120	GAC		0.627	PAGR1-002	PUTATIVE	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000473165.1		NM_024516	
C19orf57	79173	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	14000172	14000172	+	Silent	SNP	C	C	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr19:14000172C>T	ENST00000586783.1	-	5	1496	c.1497G>A	c.(1495-1497)caG>caA	p.Q499Q	C19orf57_ENST00000454313.1_Silent_p.Q499Q|C19orf57_ENST00000346736.2_Silent_p.Q499Q|C19orf57_ENST00000591586.1_Intron			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	499					multicellular organismal development (GO:0007275)			p.Q499Q(1)		breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GAATGCCCTGCTGAGCCCCGG	0.612																																																	1	Substitution - coding silent(1)	kidney(1)											66.0	73.0	70.0					19																	14000172		2203	4300	6503	SO:0001819	synonymous_variant	79173			BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.1497G>A	19.37:g.14000172C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q13411|Q8N825|Q96D63|Q9BU49	Silent	SNP	ENST00000586783.1	37																																																																																					0.612	C19orf57-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000457947.1		NM_024323	
C1orf111	284680	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	162343974	162343974	+	Missense_Mutation	SNP	C	C	T	rs17853130	byFrequency	TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr1:162343974C>T	ENST00000367935.5	-	3	729	c.650G>A	c.(649-651)cGc>cAc	p.R217H	RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111	217			R -> H (in dbSNP:rs17853130). {ECO:0000269|PubMed:15489334}.					p.R217H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			TTTGAGCTTGCGGTAGTACAC	0.607													C|||	3	0.000599042	0.0	0.0	5008	,	,		18370	0.0		0.003	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)						C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	97.0	97.0	97.0		650	3.3	0.1	1	dbSNP_123	97	12,8588	9.1+/-34.3	0,12,4288	yes	missense	C1orf111	NM_182581.3	29	0,14,6489	TT,TC,CC		0.1395,0.0454,0.1076	benign	217/262	162343974	14,12992	2203	4300	6503	SO:0001583	missense	284680			BC032957	CCDS1238.1	1q23.3	2008-02-05			ENSG00000171722	ENSG00000171722			27648	protein-coding gene	gene with protein product						12477932	Standard	NM_182581		Approved		uc001gbx.2	Q5T0L3	OTTHUMG00000031375	ENST00000367935.5:c.650G>A	1.37:g.162343974C>T	ENSP00000356912:p.Arg217His	Somatic		WXS	Illumina HiSeq	Phase_I	Q6X961|Q8NEC3	Missense_Mutation	SNP	ENST00000367935.5	37	CCDS1238.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	3.231	-0.157424	0.06544	4.54E-4	0.001395	ENSG00000171722	ENST00000367935	T	0.29917	1.55	5.14	3.28	0.37604	.	0.494352	0.20455	N	0.092009	T	0.06462	0.0166	N	0.14661	0.345	0.28576	N	0.910365	B	0.24533	0.105	B	0.19946	0.027	T	0.19128	-1.0315	9	0.41790	T	0.15	-34.6338	7.3947	0.26929	0.0:0.7289:0.0:0.2711	rs17853130	217	Q5T0L3	CA111_HUMAN	H	217	ENSP00000356912:R217H	ENSP00000356912:R217H	R	-	2	0	C1orf111	160610598	0.204000	0.23447	0.052000	0.19188	0.184000	0.23303	1.085000	0.30840	0.569000	0.29329	0.655000	0.94253	CGC		0.607	C1orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076791.2		NM_182581	
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs200886831|rs551189349|rs199544375		TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	GCCGGG	GCCGGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)gccgggdel	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777																																																	2	Deletion - In frame(2)	prostate(1)|central_nervous_system(1)																																								SO:0001651	inframe_deletion	0			BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"""chromosome 6 open reading frame 153"""	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.22_27delGCCGGG	6.37:g.42989420_42989425delGCCGGG	ENSP00000244496:p.Ala14_Gly15del	Somatic		WXS	Illumina GAIIx	Phase_I	Q9BRF6|Q9P0C8	In_Frame_Del	DEL	ENST00000244496.5	37	CCDS34453.1																																																																																				0.777	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1		NM_033112	
FAM219A	203259	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	34402709	34402709	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr9:34402709C>T	ENST00000445726.1	-	3	563	c.257G>A	c.(256-258)cGa>cAa	p.R86Q	FAM219A_ENST00000379087.1_Missense_Mutation_p.R68Q|FAM219A_ENST00000379081.1_Missense_Mutation_p.R57Q|FAM219A_ENST00000379078.1_Missense_Mutation_p.R85Q|FAM219A_ENST00000379080.1_Missense_Mutation_p.R74Q|FAM219A_ENST00000297620.4_Missense_Mutation_p.R69Q|FAM219A_ENST00000379084.1_Missense_Mutation_p.R68Q|FAM219A_ENST00000379089.1_Missense_Mutation_p.R85Q	NM_001184940.1|NM_001184941.1	NP_001171869.1|NP_001171870.1	Q8IW50	F219A_HUMAN	family with sequence similarity 219, member A	86								p.R69Q(1)									CTACCTTGTTCGGGCCATGAC	0.622																																																	1	Substitution - Missense(1)	kidney(1)											180.0	126.0	144.0					9																	34402709		2203	4300	6503	SO:0001583	missense	0			AK096350	CCDS6556.1, CCDS55304.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164970	ENSG00000164970			19920	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 25"""	C9orf25		9110174, 8619474	Standard	NM_147202		Approved	bA573M23.5, FLJ39031	uc011lok.2	Q8IW50	OTTHUMG00000019822	ENST00000445726.1:c.257G>A	9.37:g.34402709C>T	ENSP00000392452:p.Arg86Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A2A364|B4DFE1|B4DSR8|Q5T590|Q5T591|Q5T592|Q5T594|Q5T595|Q8TAZ8	Missense_Mutation	SNP	ENST00000445726.1	37	CCDS55304.1	.	.	.	.	.	.	.	.	.	.	C	34	5.397987	0.96030	.	.	ENSG00000164970	ENST00000379089;ENST00000379087;ENST00000379084;ENST00000379081;ENST00000379080;ENST00000445726;ENST00000297620;ENST00000422409;ENST00000379078	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.79488	0.4454	M	0.75447	2.3	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.998	D;D;D;D;D	0.83275	0.995;0.99;0.996;0.99;0.979	T	0.81302	-0.0994	9	0.59425	D	0.04	-6.0991	17.6693	0.88212	0.0:1.0:0.0:0.0	.	75;86;58;58;69	Q8IW50-4;Q8IW50;Q8IW50-3;Q8IW50-2;Q8IW50-6	.;CI025_HUMAN;.;.;.	Q	85;68;68;57;74;86;69;85;85	.	ENSP00000297620:R69Q	R	-	2	0	C9orf25	34392709	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.226000	0.78060	2.415000	0.81967	0.561000	0.74099	CGA		0.622	FAM219A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_001184940	
CD83	9308	broad.mit.edu	37	6	14118278	14118278	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr6:14118278C>A	ENST00000379153.3	+	2	306	c.135C>A	c.(133-135)taC>taA	p.Y45*		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	45	Ig-like V-type.				defense response (GO:0006952)|humoral immune response (GO:0006959)|negative regulation of interleukin-4 production (GO:0032713)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|response to organic cyclic compound (GO:0014070)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.Y45*(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				AGGTTCCCTACACGGTCTCCT	0.637																																																	1	Substitution - Nonsense(1)	kidney(1)											26.0	26.0	26.0					6																	14118278		2203	4300	6503	SO:0001587	stop_gained	9308			Z11697	CCDS4532.1, CCDS75403.1	6p23	2013-01-11	2006-03-31		ENSG00000112149	ENSG00000112149		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1703	protein-coding gene	gene with protein product		604534	"""CD83 antigen (activated B lymphocytes, immunoglobulin superfamily)"", ""CD83 molecule """			1378080, 8422464	Standard	NM_001251901		Approved	HB15, BL11	uc003nbi.3	Q01151	OTTHUMG00000014283	ENST00000379153.3:c.135C>A	6.37:g.14118278C>A	ENSP00000368450:p.Tyr45*	Somatic		WXS	Illumina GAIIx	Phase_I	Q5THX9	Nonsense_Mutation	SNP	ENST00000379153.3	37	CCDS4532.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169138	0.78339	.	.	ENSG00000112149	ENST00000379153	.	.	.	4.56	1.72	0.24424	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.6159	7.1489	0.25599	0.0:0.7079:0.0:0.2921	.	.	.	.	X	45	.	ENSP00000368450:Y45X	Y	+	3	2	CD83	14226257	0.223000	0.23663	0.009000	0.14445	0.054000	0.15201	0.568000	0.23623	0.028000	0.15324	0.491000	0.48974	TAC		0.637	CD83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039916.1			
CDH23	64072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	73537549	73537549	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr10:73537549G>T	ENST00000224721.6	+	38	4978	c.4973G>T	c.(4972-4974)aGc>aTc	p.S1658I		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1653	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.S1658I(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTCAACACCAGCCTCATCACC	0.577																																																	1	Substitution - Missense(1)	kidney(1)											65.0	64.0	64.0					10																	73537549		2166	4262	6428	SO:0001583	missense	64072			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.4973G>T	10.37:g.73537549G>T	ENSP00000224721:p.Ser1658Ile	Somatic		WXS	Illumina HiSeq	Phase_I	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37		.	.	.	.	.	.	.	.	.	.	G	11.79	1.744364	0.30865	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	5.76	5.76	0.90799	Cadherin (3);Cadherin-like (1);	0.108808	0.64402	D	0.000008	T	0.42291	0.1196	L	0.31664	0.95	0.80722	D	1	B	0.12013	0.005	B	0.18871	0.023	T	0.28332	-1.0047	9	0.12766	T	0.61	.	10.8029	0.46500	0.0:0.121:0.6401:0.2388	.	1653	Q9H251	CAD23_HUMAN	I	1658;1653;1656	.	ENSP00000224721:S1658I	S	+	2	0	CDH23	73207555	1.000000	0.71417	0.992000	0.48379	0.461000	0.32589	1.401000	0.34589	2.726000	0.93360	0.655000	0.94253	AGC		0.577	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4		NM_052836	
PSAP	5660	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	73574721	73574721	+	IGR	SNP	G	G	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr10:73574721G>A	ENST00000394936.3	-	0	2866				CDH23_ENST00000398788.3_Missense_Mutation_p.E1011K|CDH23_ENST00000224721.6_Missense_Mutation_p.E3256K|CDH23_ENST00000475158.1_3'UTR			P07602	SAP_HUMAN	prosaposin						blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)	p.E3256K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						GATACAGACTGAGCTGGACGA	0.652																																																	1	Substitution - Missense(1)	kidney(1)											15.0	18.0	17.0					10																	73574721		2018	4161	6179	SO:0001628	intergenic_variant	64072			BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"""Endogenous ligands"""	9498	protein-coding gene	gene with protein product	"""variant Gaucher disease and variant metachromatic leukodystrophy"""	176801	"""sphingolipid activator protein-1"""	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429		10.37:g.73574721G>A		Somatic		WXS	Illumina HiSeq	Phase_I	P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	37	CCDS7311.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.462109	0.84425	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.79653	-1.29	5.42	5.42	0.78866	.	0.195954	0.42964	D	0.000636	T	0.72195	0.3430	N	0.22421	0.69	0.54753	D	0.999982	P;P;B;B	0.40660	0.592;0.726;0.321;0.115	B;B;B;B	0.37601	0.254;0.142;0.03;0.03	T	0.76263	-0.3023	10	0.59425	D	0.04	.	19.2155	0.93776	0.0:0.0:1.0:0.0	.	113;148;3216;3251	Q5QGS5;Q5QGS6;E9PEX1;Q9H251	.;.;.;CAD23_HUMAN	K	3256;3216;3254;1011	ENSP00000381768:E1011K	ENSP00000224721:E3256K	E	+	1	0	CDH23	73244727	1.000000	0.71417	0.888000	0.34837	0.995000	0.86356	8.999000	0.93557	2.553000	0.86117	0.655000	0.94253	GAG		0.652	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1		NM_002778	
DEPDC5	9681	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	32198825	32198825	+	Splice_Site	SNP	G	G	C			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr22:32198825G>C	ENST00000382112.3	+	14	1151		c.e14+1		DEPDC5_ENST00000400242.3_Splice_Site|DEPDC5_ENST00000536766.1_Splice_Site|DEPDC5_ENST00000382105.2_Splice_Site|DEPDC5_ENST00000400248.2_Splice_Site|DEPDC5_ENST00000266091.3_Splice_Site|DEPDC5_ENST00000400246.1_Splice_Site|DEPDC5_ENST00000400249.2_Splice_Site|DEPDC5_ENST00000382111.2_Splice_Site|DEPDC5_ENST00000535622.1_Splice_Site	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5						intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.?(2)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATAGATAATGGTAATGCTCTC	0.517																																																	2	Unknown(2)	kidney(2)											152.0	151.0	151.0					22																	32198825		2051	4208	6259	SO:0001630	splice_region_variant	9681			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1081+1G>C	22.37:g.32198825G>C		Somatic		WXS	Illumina HiSeq	Phase_I	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Splice_Site	SNP	ENST00000382112.3	37	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.851308	0.71719	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3458	0.90321	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DEPDC5	30528825	1.000000	0.71417	0.995000	0.50966	0.614000	0.37383	9.554000	0.98121	2.573000	0.86826	0.650000	0.86243	.		0.517	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1		NM_014662	Intron
DNTT	1791	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	98064450	98064450	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr10:98064450G>T	ENST00000371174.2	+	1	298	c.196G>T	c.(196-198)Gag>Tag	p.E66*	DNTT_ENST00000419175.1_Nonsense_Mutation_p.E66*|RP11-35J23.1_ENST00000454484.2_RNA			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	66	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.E66*(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GGTTGAAAATGAGCTCAGGTA	0.483																																																	1	Substitution - Nonsense(1)	kidney(1)											34.0	40.0	38.0					10																	98064450		2203	4300	6503	SO:0001587	stop_gained	1791			AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.196G>T	10.37:g.98064450G>T	ENSP00000360216:p.Glu66*	Somatic		WXS	Illumina HiSeq	Phase_I	Q53FH1|Q5W103|Q96E50	Nonsense_Mutation	SNP	ENST00000371174.2	37	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	G	38	6.699057	0.97772	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	.	.	.	5.9	5.9	0.94986	.	0.110890	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	17.7564	0.88450	0.0:0.0:1.0:0.0	.	.	.	.	X	66	.	ENSP00000360216:E66X	E	+	1	0	DNTT	98054440	1.000000	0.71417	0.995000	0.50966	0.796000	0.44982	6.309000	0.72825	2.802000	0.96397	0.650000	0.86243	GAG		0.483	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1		NM_004088	
DSCAML1	57453	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	117309653	117309653	+	Silent	SNP	C	C	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr11:117309653C>A	ENST00000321322.6	-	24	4372	c.4371G>T	c.(4369-4371)tcG>tcT	p.S1457S	DSCAML1_ENST00000527706.1_Silent_p.S1187S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1397	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.S1457S(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGGTGATGGACGAAGCTGAGG	0.617																																																	1	Substitution - coding silent(1)	kidney(1)											69.0	69.0	69.0					11																	117309653		2201	4296	6497	SO:0001819	synonymous_variant	57453				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4371G>T	11.37:g.117309653C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	CCDS8384.1																																																																																				0.617	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2		NM_020693	
EMCN	51705	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	101331487	101331487	+	Silent	SNP	G	G	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr4:101331487G>T	ENST00000296420.4	-	11	955	c.777C>A	c.(775-777)acC>acA	p.T259T	EMCN_ENST00000511970.1_Silent_p.T246T|EMCN_ENST00000305864.3_Silent_p.T176T	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	259						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T259T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		GTCAGTTCTTGGTTTTTCCTT	0.373																																																	1	Substitution - coding silent(1)	kidney(1)											212.0	201.0	205.0					4																	101331487		2203	4300	6503	SO:0001819	synonymous_variant	51705			AF205940	CCDS3655.1, CCDS54782.1	4q22.1	2008-02-05			ENSG00000164035	ENSG00000164035		"""Mucins"""	16041	protein-coding gene	gene with protein product		608350				11418125, 11594763	Standard	NM_016242		Approved	MUC14	uc003hvr.3	Q9ULC0	OTTHUMG00000131051	ENST00000296420.4:c.777C>A	4.37:g.101331487G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K716|B4E347|Q8NEY5|Q8WWE7|Q9NRM8	Silent	SNP	ENST00000296420.4	37	CCDS3655.1																																																																																				0.373	EMCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253699.2		NM_016242	
EPHA8	2046	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	22895795	22895796	+	Missense_Mutation	DNP	CA	CA	AC			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	C|A	C|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr1:22895795_22895796CA>AC	ENST00000166244.3	+	2	180_181	c.108_109CA>AC	c.(106-111)gaCAcg>gaACcg	p.36_37DT>EP	EPHA8_ENST00000538803.1_Missense_Mutation_p.36_37DT>EP|EPHA8_ENST00000374644.4_Missense_Mutation_p.36_37DT>EP	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	36	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.T37P(2)|p.D36>?(2)|p.D36E(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ATTTGCTGGACACGTCGACCAT	0.589																																																	6	Substitution - Missense(4)|Complex(2)	kidney(6)																																								SO:0001583	missense	2046			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	Exception_encountered	1.37:g.22895795_22895796delinsAC	ENSP00000166244:p.D36_T37delinsEP	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	CCDS225.1																																																																																				0.589	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1		NM_020526	
FAM92A1P2	403315	broad.mit.edu	37	4	183959968	183959968	+	RNA	SNP	T	T	G			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr4:183959968T>G	ENST00000502308.1	+	0	1151					NR_003612.1				family with sequence similarity 92, member A1 pseudogene 2																		AAGACTATATTTTCCAAATTT	0.348																																																	0																																												0			BC022019		4q35.1	2012-04-19	2012-04-19	2012-04-19	ENSG00000230219	ENSG00000230219			32287	pseudogene	pseudogene			"""family with sequence similarity 92, member A3"""	FAM92A3		12477932	Standard	NR_003612		Approved	MGC71735, MGC102964	uc003ivi.4		OTTHUMG00000160675		4.37:g.183959968T>G		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000502308.1	37																																																																																					0.348	FAM92A1P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361814.1			
GAPVD1	26130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	128099711	128099711	+	Silent	SNP	A	A	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr9:128099711A>T	ENST00000495955.1	+	17	3008	c.2718A>T	c.(2716-2718)gtA>gtT	p.V906V	GAPVD1_ENST00000394083.2_Silent_p.V885V|GAPVD1_ENST00000312123.9_Silent_p.V885V|GAPVD1_ENST00000265956.4_Silent_p.V880V|GAPVD1_ENST00000470056.1_Silent_p.V906V|GAPVD1_ENST00000394105.2_Silent_p.V933V|GAPVD1_ENST00000394104.2_Silent_p.V906V|GAPVD1_ENST00000297933.6_Silent_p.V906V			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	906					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.V933V(1)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CTGATATAGTATCTTCTGTCC	0.502																																																	1	Substitution - coding silent(1)	kidney(1)											79.0	78.0	78.0					9																	128099711		2203	4300	6503	SO:0001819	synonymous_variant	26130				CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2718A>T	9.37:g.128099711A>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Silent	SNP	ENST00000495955.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.637|9.637	1.137966|1.137966	0.21123|0.21123	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000436712|ENST00000431329	.|.	.|.	.|.	6.17|6.17	-10.0|-10.0	0.00425|0.00425	.|.	.|.	.|.	.|.	.|.	T|T	0.42607|0.42607	0.1210|0.1210	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.49835|0.49835	-0.8897|-0.8897	4|4	.|.	.|.	.|.	.|.	5.7828|5.7828	0.18316|0.18316	0.6182:0.0727:0.1635:0.1456|0.6182:0.0727:0.1635:0.1456	.|.	.|.	.|.	.|.	F|F	743|743	.|.	.|.	I|Y	+|+	1|2	0|0	GAPVD1|GAPVD1	127139532|127139532	0.000000|0.000000	0.05858|0.05858	0.027000|0.027000	0.17364|0.17364	0.984000|0.984000	0.73092|0.73092	-1.484000|-1.484000	0.02316|0.02316	-2.106000|-2.106000	0.00841|0.00841	0.533000|0.533000	0.62120|0.62120	ATC|TAT		0.502	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			
GPR61	83873	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	110086219	110086219	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr1:110086219C>T	ENST00000527748.1	+	2	1258	c.575C>T	c.(574-576)cCc>cTc	p.P192L	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.P192L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCCAGTGTCCCCCCAGGCTGT	0.582																																																	1	Substitution - Missense(1)	kidney(1)											166.0	155.0	159.0					1																	110086219		2203	4300	6503	SO:0001583	missense	83873			AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.575C>T	1.37:g.110086219C>T	ENSP00000432456:p.Pro192Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Missense_Mutation	SNP	ENST00000527748.1	37	CCDS801.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538659	0.27475	.	.	ENSG00000156097	ENST00000527748;ENST00000286603	T	0.37752	1.18	5.15	3.18	0.36537	GPCR, rhodopsin-like superfamily (1);	0.462713	0.23007	N	0.053002	T	0.10294	0.0252	N	0.21373	0.66	0.36893	D	0.889985	B	0.28470	0.213	B	0.24848	0.056	T	0.05354	-1.0890	10	0.56958	D	0.05	-17.5306	6.3	0.21107	0.1386:0.6591:0.1269:0.0755	.	192	Q9BZJ8	GPR61_HUMAN	L	192;320	ENSP00000432456:P192L	ENSP00000286603:P320L	P	+	2	0	GPR61	109887742	0.006000	0.16342	0.995000	0.50966	0.982000	0.71751	1.741000	0.38238	1.327000	0.45338	0.655000	0.94253	CCC		0.582	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1			
ARHGAP35	2909	hgsc.bcm.edu;ucsc.edu	37	19	47424672	47424672	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr19:47424672delG	ENST00000404338.3	+	1	2740	c.2740delG	c.(2740-2742)gaafs	p.E914fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	914					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GATTGCTCAAGAAATTGACGG	0.443																																																	0													113.0	112.0	113.0					19																	47424672		1951	4149	6100	SO:0001589	frameshift_variant	0			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2740delG	19.37:g.47424672delG	ENSP00000385720:p.Glu914fs	Somatic		WXS	Illumina HiSeq	Phase_I	A7E2A4|Q14452|Q9C0E1	Frame_Shift_Del	DEL	ENST00000404338.3	37	CCDS46127.1																																																																																				0.443	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1		NM_004491	
ARHGAP35	2909	hgsc.bcm.edu	37	19	47424676	47424676	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr19:47424676T>A	ENST00000404338.3	+	1	2744	c.2744T>A	c.(2743-2745)aTt>aAt	p.I915N		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	915					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GCTCAAGAAATTGACGGAAGG	0.443																																																	0													114.0	114.0	114.0					19																	47424676		1950	4147	6097	SO:0001583	missense	0			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2744T>A	19.37:g.47424676T>A	ENSP00000385720:p.Ile915Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	T	18.20	3.572239	0.65765	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.10960	2.82	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.27798	0.0684	L	0.55990	1.75	0.80722	D	1	D	0.67145	0.996	D	0.66602	0.945	T	0.00591	-1.1655	10	0.87932	D	0	-23.8008	15.1077	0.72334	0.0:0.0:0.0:1.0	.	915	Q9NRY4-2	.	N	915	ENSP00000385720:I915N	ENSP00000324820:I915N	I	+	2	0	ARHGAP35	52116516	1.000000	0.71417	0.480000	0.27341	0.961000	0.63080	8.037000	0.88933	2.214000	0.71695	0.533000	0.62120	ATT		0.443	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1		NM_004491	
GTF3C1	2975	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	27504025	27504025	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr16:27504025A>C	ENST00000356183.4	-	18	2901	c.2886T>G	c.(2884-2886)atT>atG	p.I962M	GTF3C1_ENST00000561623.1_Missense_Mutation_p.I962M	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	962					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.I962M(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCACCGAAAAAATGTAACGCC	0.552																																																	1	Substitution - Missense(1)	kidney(1)											95.0	98.0	97.0					16																	27504025		2197	4300	6497	SO:0001583	missense	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.2886T>G	16.37:g.27504025A>C	ENSP00000348510:p.Ile962Met	Somatic		WXS	Illumina HiSeq	Phase_I	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.932911	0.52866	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.28895	1.59	5.43	-10.9	0.00192	.	0.113826	0.64402	D	0.000013	T	0.38799	0.1054	M	0.77103	2.36	0.24652	N	0.993518	D;D	0.69078	0.997;0.991	D;P	0.63877	0.919;0.885	T	0.60485	-0.7254	10	0.87932	D	0	-13.1948	6.0399	0.19728	0.1351:0.148:0.4975:0.2194	.	962;962	Q12789;Q12789-3	TF3C1_HUMAN;.	M	962;960	ENSP00000348510:I962M	ENSP00000348510:I962M	I	-	3	3	GTF3C1	27411526	0.204000	0.23447	0.005000	0.12908	0.646000	0.38490	-0.370000	0.07523	-3.370000	0.00177	-1.157000	0.01802	ATT		0.552	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1		NM_001520	
HMCN1	83872	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	186099138	186099138	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr1:186099138T>G	ENST00000271588.4	+	84	13174	c.12945T>G	c.(12943-12945)atT>atG	p.I4315M	HMCN1_ENST00000367492.2_Missense_Mutation_p.I4315M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4315	Ig-like C2-type 42.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.I4315M(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AACTTGTTATTGAAAGAGTGT	0.428																																																	1	Substitution - Missense(1)	kidney(1)											158.0	140.0	146.0					1																	186099138		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12945T>G	1.37:g.186099138T>G	ENSP00000271588:p.Ile4315Met	Somatic		WXS	Illumina HiSeq	Phase_I	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	17.76	3.469738	0.63625	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.79033	-1.23;-1.23	5.82	4.7	0.59300	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.098992	0.64402	D	0.000002	D	0.85986	0.5825	M	0.89904	3.07	0.53005	D	0.999966	D	0.55800	0.973	P	0.56163	0.793	D	0.87530	0.2452	10	0.59425	D	0.04	.	8.937	0.35706	0.0:0.1405:0.0:0.8595	.	4315	Q96RW7	HMCN1_HUMAN	M	4315	ENSP00000271588:I4315M;ENSP00000356462:I4315M	ENSP00000271588:I4315M	I	+	3	3	HMCN1	184365761	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.857000	0.27831	2.221000	0.72209	0.528000	0.53228	ATT		0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935	
HRC	3270	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49658118	49658118	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr19:49658118T>C	ENST00000252825.4	-	1	563	c.377A>G	c.(376-378)gAg>gGg	p.E126G	TRPM4_ENST00000427978.2_5'Flank|TRPM4_ENST00000355712.5_5'Flank|HRC_ENST00000595625.1_Missense_Mutation_p.E126G|TRPM4_ENST00000252826.5_5'Flank	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	126	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)	p.E126G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CCCACCATGCTCTGCAAAGAC	0.607																																					Melanoma(37;75 1097 24567 25669 30645)												1	Substitution - Missense(1)	kidney(1)											135.0	110.0	118.0					19																	49658118		2203	4300	6503	SO:0001583	missense	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.377A>G	19.37:g.49658118T>C	ENSP00000252825:p.Glu126Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q504Y6	Missense_Mutation	SNP	ENST00000252825.4	37	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	T	9.943	1.218122	0.22373	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	T	0.07444	3.19	2.51	1.47	0.22746	.	.	.	.	.	T	0.07954	0.0199	L	0.56199	1.76	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38178	-0.9673	9	0.24483	T	0.36	-1.2838	5.3728	0.16148	0.0:0.16:0.0:0.84	.	126	P23327	SRCH_HUMAN	G	126;96	ENSP00000252825:E126G	ENSP00000252825:E126G	E	-	2	0	HRC	54349930	0.001000	0.12720	0.025000	0.17156	0.038000	0.13279	0.194000	0.17135	0.393000	0.25203	0.379000	0.24179	GAG		0.607	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1		NM_002152	
HSPA9	3313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137903401	137903401	+	Silent	SNP	C	C	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr5:137903401C>T	ENST00000297185.3	-	6	671	c.546G>A	c.(544-546)ttG>ttA	p.L182L	HSPA9_ENST00000501917.2_5'Flank	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	182					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.L182L(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTGTGTGCCCCAAGTAATTTT	0.383																																																	1	Substitution - coding silent(1)	kidney(1)											56.0	52.0	53.0					5																	137903401		2203	4300	6503	SO:0001819	synonymous_variant	3313			L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"""Heat shock proteins / HSP70"""	5244	protein-coding gene	gene with protein product		600548	"""heat shock 70kDa protein 9B (mortalin-2)"""	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.546G>A	5.37:g.137903401C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Silent	SNP	ENST00000297185.3	37	CCDS4208.1																																																																																				0.383	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251285.1		NM_004134	
HUWE1	10075	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	53615356	53615356	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chrX:53615356T>A	ENST00000342160.3	-	36	5057	c.4600A>T	c.(4600-4602)Acg>Tcg	p.T1534S	HUWE1_ENST00000218328.8_Missense_Mutation_p.T1534S|HUWE1_ENST00000262854.6_Missense_Mutation_p.T1534S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1534					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.T1534S(1)|p.T1397S(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AAAAGTAGCGTTAAAAGCAAG	0.403																																																	2	Substitution - Missense(2)	kidney(2)											96.0	73.0	80.0					X																	53615356		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.4600A>T	X.37:g.53615356T>A	ENSP00000340648:p.Thr1534Ser	Somatic		WXS	Illumina HiSeq	Phase_I	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.82|15.82	2.947335|2.947335	0.53186|0.53186	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854;ENST00000218328	.|T;T;T	.|0.47869	.|1.13;1.13;0.83	5.83|5.83	5.83|5.83	0.93111|0.93111	.|Armadillo-like helical (1);	.|0.119337	.|0.56097	.|D	.|0.000037	T|T	0.42200|0.42200	0.1192|0.1192	N|N	0.19112|0.19112	0.55|0.55	0.54753|0.54753	D|D	0.999989|0.999989	.|B;P	.|0.52692	.|0.136;0.955	.|B;P	.|0.50270	.|0.045;0.636	T|T	0.24154|0.24154	-1.0168|-1.0168	5|10	.|0.24483	.|T	.|0.36	.|.	14.0422|14.0422	0.64684|0.64684	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1534;1534	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	I|S	567|1534	.|ENSP00000340648:T1534S;ENSP00000262854:T1534S;ENSP00000218328:T1534S	.|ENSP00000218328:T1534S	N|T	-|-	2|1	0|0	HUWE1|HUWE1	53632081|53632081	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.940000|0.940000	0.58332|0.58332	7.708000|7.708000	0.84633|0.84633	1.962000|1.962000	0.57031|0.57031	0.486000|0.486000	0.48141|0.48141	AAC|ACG		0.403	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1		XM_497119	
KCNC4	3749	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	110768698	110768698	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr1:110768698G>A	ENST00000369787.3	+	3	1744	c.1717G>A	c.(1717-1719)Gcc>Acc	p.A573T	KCNC4_ENST00000438661.2_Missense_Mutation_p.A573T|KCNC4_ENST00000413138.3_Missense_Mutation_p.A573T|KCNC4_ENST00000412512.2_Intron	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	573					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.A573T(2)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGAGCGCCGGGCCCTGCGACG	0.642																																																	2	Substitution - Missense(2)	kidney(2)											54.0	60.0	58.0					1																	110768698		2203	4300	6503	SO:0001583	missense	3749			BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1717G>A	1.37:g.110768698G>A	ENSP00000358802:p.Ala573Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q3MIM4|Q5TBI6	Missense_Mutation	SNP	ENST00000369787.3	37	CCDS821.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571077	0.45798	.	.	ENSG00000116396	ENST00000369787;ENST00000413138;ENST00000438661	D;D;D	0.97232	-4.3;-4.3;-4.29	5.19	3.16	0.36331	.	0.395946	0.29152	N	0.012999	D	0.83454	0.5258	N	0.14661	0.345	0.30378	N	0.782267	B;B	0.11235	0.004;0.002	B;B	0.12156	0.003;0.007	T	0.74281	-0.3716	10	0.33940	T	0.23	.	2.3029	0.04167	0.174:0.1951:0.4976:0.1334	.	573;573	Q03721;Q03721-3	KCNC4_HUMAN;.	T	573	ENSP00000358802:A573T;ENSP00000388029:A573T;ENSP00000393655:A573T	ENSP00000358802:A573T	A	+	1	0	KCNC4	110570221	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.254000	0.32897	1.168000	0.42723	0.462000	0.41574	GCC		0.642	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2		NM_001039574	
KIF26B	55083	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	245583033	245583033	+	Silent	SNP	C	C	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr1:245583033C>T	ENST00000407071.2	+	4	1592	c.1152C>T	c.(1150-1152)gcC>gcT	p.A384A		NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	384					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.A384A(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CGGTGGCCGCCTCCTTCTTTG	0.587																																																	2	Substitution - coding silent(2)	kidney(2)											96.0	98.0	97.0					1																	245583033		1995	4162	6157	SO:0001819	synonymous_variant	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1152C>T	1.37:g.245583033C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	CCDS44342.1																																																																																				0.587	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1		XM_371354	
KRTAP4-11	653240	broad.mit.edu	37	17	39274206	39274206	+	Missense_Mutation	SNP	C	C	T	rs79388709		TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr17:39274206C>T	ENST00000391413.2	-	1	400	c.362G>A	c.(361-363)aGa>aAa	p.R121K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	121	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.R121K(5)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcactggggtctgcagcagct	0.652																																																	5	Substitution - Missense(5)	lung(2)|prostate(1)|kidney(1)|skin(1)											5.0	9.0	8.0					17																	39274206		644	1533	2177	SO:0001583	missense	653240			AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.362G>A	17.37:g.39274206C>T	ENSP00000375232:p.Arg121Lys	Somatic		WXS	Illumina GAIIx	Phase_I	A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	4.782	0.145483	0.09134	.	.	ENSG00000212721	ENST00000391413	T	0.01455	4.87	3.34	-4.84	0.03151	.	.	.	.	.	T	0.01905	0.0060	M	0.73962	2.25	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.50276	-0.8847	9	0.11794	T	0.64	.	2.2508	0.04042	0.1417:0.1925:0.1396:0.5262	.	121	Q9BYQ6	KR411_HUMAN	K	121	ENSP00000375232:R121K	ENSP00000375232:R121K	R	-	2	0	KRTAP4-11	36527732	0.000000	0.05858	0.009000	0.14445	0.065000	0.16274	-1.602000	0.02079	-0.525000	0.06391	-1.218000	0.01608	AGA		0.652	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			
LRRC19	64922	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	26999658	26999658	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr9:26999658G>A	ENST00000380055.5	-	2	145	c.35C>T	c.(34-36)cCc>cTc	p.P12L	LRRC19_ENST00000482770.1_5'Flank|IFT74_ENST00000429045.2_Intron|IFT74_ENST00000443698.1_Intron|IFT74_ENST00000433700.1_Intron|IFT74_ENST00000380062.5_Intron	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	12						integral component of membrane (GO:0016021)		p.P12L(1)		breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		CATGGAGAGGGGCCAAAAGAG	0.308																																																	1	Substitution - Missense(1)	kidney(1)											66.0	73.0	71.0					9																	26999658		2203	4300	6503	SO:0001583	missense	64922			AK024955	CCDS6518.1	9p21.1	2008-02-05			ENSG00000184434	ENSG00000184434			23379	protein-coding gene	gene with protein product							Standard	NM_022901		Approved	FLJ21302	uc003zqh.3	Q9H756	OTTHUMG00000019710	ENST00000380055.5:c.35C>T	9.37:g.26999658G>A	ENSP00000369395:p.Pro12Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A0AV00|B9EG91	Missense_Mutation	SNP	ENST00000380055.5	37	CCDS6518.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.536399	0.00942	.	.	ENSG00000184434	ENST00000380055	T	0.49139	0.79	4.78	-2.98	0.05513	.	0.993680	0.08170	N	0.987087	T	0.18425	0.0442	N	0.02736	-0.51	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18840	-1.0324	10	0.23302	T	0.38	0.6122	4.999	0.14255	0.5626:0.0:0.282:0.1555	.	12	Q9H756	LRC19_HUMAN	L	12	ENSP00000369395:P12L	ENSP00000369395:P12L	P	-	2	0	LRRC19	26989658	0.005000	0.15991	0.019000	0.16419	0.001000	0.01503	-0.215000	0.09279	-0.317000	0.08677	-0.229000	0.12294	CCC		0.308	LRRC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051961.2		NM_022901	
MAU2	23383	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	19453474	19453474	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr19:19453474G>T	ENST00000392313.6	+	8	1045	c.866G>T	c.(865-867)tGt>tTt	p.C289F	MAU2_ENST00000262815.8_Missense_Mutation_p.C289F	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	289					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)	p.C289F(1)		NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						GAGCACATGTGTGTGCTTGTC	0.657											OREG0025380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											110.0	117.0	114.0					19																	19453474		2160	4265	6425	SO:0001583	missense	23383			AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"""sister chromatid cohesion 4"""	614560	"""KIAA0892"", ""MAU2 chromatid cohesion factor homolog (C. elegans)"""	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.866G>T	19.37:g.19453474G>T	ENSP00000376127:p.Cys289Phe	Somatic	733	WXS	Illumina HiSeq	Phase_I	Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Missense_Mutation	SNP	ENST00000392313.6	37	CCDS32969.2	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242619	0.58995	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	.	.	.	5.45	5.45	0.79879	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.57519	0.2059	L	0.50333	1.59	0.80722	D	1	B	0.24043	0.096	B	0.25759	0.063	T	0.53063	-0.8491	9	0.15952	T	0.53	.	17.8538	0.88756	0.0:0.0:1.0:0.0	.	289	Q9Y6X3	SCC4_HUMAN	F	289	.	ENSP00000262815:C289F	C	+	2	0	MAU2	19314474	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.481000	0.97933	2.569000	0.86673	0.563000	0.77884	TGT		0.657	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6		NM_015329	
MEMO1	51072	broad.mit.edu	37	2	32093458	32093458	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr2:32093458T>A	ENST00000295065.5	-	9	1175	c.866A>T	c.(865-867)tAt>tTt	p.Y289F	MEMO1_ENST00000490459.1_5'UTR|MEMO1_ENST00000379383.3_Missense_Mutation_p.Y292F|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000404530.1_Missense_Mutation_p.Y289F|MEMO1_ENST00000426310.2_Missense_Mutation_p.Y266F	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	289					regulation of microtubule-based process (GO:0032886)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.Y289F(1)		NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					TCCAGCTGCATAACTCACTGA	0.488																																																	1	Substitution - Missense(1)	kidney(1)											24.0	21.0	22.0					2																	32093458		2202	4280	6482	SO:0001583	missense	51072			AF132961	CCDS1776.1, CCDS46255.1	2p22-p21	2010-05-24	2007-02-12	2007-02-12	ENSG00000162959	ENSG00000162959			14014	protein-coding gene	gene with protein product		611786	"""chromosome 2 open reading frame 4"""	C2orf4		15156151	Standard	NM_015955		Approved	CGI-27, MEMO	uc002rnx.3	Q9Y316	OTTHUMG00000128453	ENST00000295065.5:c.866A>T	2.37:g.32093458T>A	ENSP00000295065:p.Tyr289Phe	Somatic		WXS	Illumina GAIIx	Phase_I	B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Missense_Mutation	SNP	ENST00000295065.5	37	CCDS1776.1	.	.	.	.	.	.	.	.	.	.	T	19.72	3.879975	0.72294	.	.	ENSG00000162959	ENST00000295065;ENST00000379383;ENST00000404530;ENST00000426310	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.86900	0.6044	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90877	0.4750	9	0.87932	D	0	-9.5931	15.0912	0.72195	0.0:0.0:0.0:1.0	.	266;289	Q9Y316-2;Q9Y316	.;MEMO1_HUMAN	F	289;292;289;266	.	ENSP00000295065:Y289F	Y	-	2	0	MEMO1	31946962	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.794000	0.85869	2.109000	0.64355	0.528000	0.53228	TAT		0.488	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250251.2		NM_015955	
KMT2E	55904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	104752397	104752397	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr7:104752397G>T	ENST00000311117.3	+	27	4739	c.4194G>T	c.(4192-4194)gaG>gaT	p.E1398D	KMT2E_ENST00000334877.4_Missense_Mutation_p.E1356D|KMT2E_ENST00000257745.4_Missense_Mutation_p.E1398D|KMT2E_ENST00000334914.7_Missense_Mutation_p.E453D|SRPK2_ENST00000493638.1_Intron	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1398					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.E1398D(1)|p.E1398fs*9(1)									TAAAAACAGAGCTCCAACAAA	0.423																																																	2	Substitution - Missense(1)|Deletion - Frameshift(1)	prostate(1)|kidney(1)											120.0	107.0	112.0					7																	104752397		2203	4300	6503	SO:0001583	missense	55904			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.4194G>T	7.37:g.104752397G>T	ENSP00000312379:p.Glu1398Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.382344	0.42207	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914	D;D;D;T	0.91686	-2.89;-2.61;-2.89;0.86	5.22	1.58	0.23477	.	0.000000	0.64402	D	0.000020	T	0.80265	0.4591	N	0.17082	0.46	0.58432	D	0.999991	B;B	0.12630	0.006;0.002	B;B	0.16722	0.016;0.003	T	0.64499	-0.6393	10	0.18710	T	0.47	.	3.4119	0.07361	0.2218:0.1295:0.5179:0.1307	.	1318;1398	F8W6H1;Q8IZD2	.;MLL5_HUMAN	D	1398;1398;1356;1318;1398;453	ENSP00000312379:E1398D;ENSP00000335599:E1356D;ENSP00000257745:E1398D;ENSP00000333986:E453D	ENSP00000257745:E1398D	E	+	3	2	MLL5	104539633	0.988000	0.35896	0.962000	0.40283	0.996000	0.88848	0.105000	0.15333	0.429000	0.26202	0.650000	0.86243	GAG		0.423	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			
Unknown	0	broad.mit.edu	37	1	16976825	16976825	+	IGR	SNP	C	C	A	rs2761525	byFrequency	TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr1:16976825C>A								CROCCP2 (15771 upstream) : RNU1-3 (16454 downstream)																							taataaaattcatatttttac	0.373																																																	0																																										SO:0001628	intergenic_variant	11209																															1.37:g.16976825C>A		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.373									
MTMR11	10903	broad.mit.edu;hgsc.bcm.edu	37	1	149901022	149901022	+	Nonstop_Mutation	SNP	T	T	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr1:149901022T>A	ENST00000439741.2	-	17	2379	c.2129A>T	c.(2128-2130)tAg>tTg	p.*710L	SF3B4_ENST00000271628.8_5'Flank|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Intron|MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000361405.6_3'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	0							phosphatase activity (GO:0016791)	p.*710L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AACCCTCCTCTACCCCAGATC	0.448																																																	1	Nonstop extension(1)	kidney(1)											93.0	93.0	93.0					1																	149901022		2203	4300	6503	SO:0001578	stop_lost	10903			AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.2129A>T	1.37:g.149901022T>A		Somatic		WXS	Illumina HiSeq	Phase_I	B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	ENST00000439741.2	37	CCDS53360.1	.	.	.	.	.	.	.	.	.	.	T	3.250	-0.153379	0.06585	.	.	ENSG00000014914	ENST00000439741	.	.	.	3.82	-0.655	0.11439	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.4676	0.07555	0.0:0.4293:0.1993:0.3715	.	.	.	.	L	710	.	.	X	-	2	0	MTMR11	148167646	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.040000	0.13905	0.060000	0.16281	-0.468000	0.05107	TAG		0.448	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_181873	
MYLK	4638	hgsc.bcm.edu	37	3	123411691	123411691	+	Silent	SNP	G	G	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr3:123411691G>A	ENST00000475616.1	-	16	3455	c.3456C>T	c.(3454-3456)ctC>ctT	p.L1152L	MYLK_ENST00000360772.3_Silent_p.L1152L|MYLK_ENST00000359169.1_Silent_p.L1152L|MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000360304.3_Silent_p.L1152L|MYLK_ENST00000346322.5_Silent_p.L1083L|MYLK_ENST00000354792.5_5'Flank|MYLK-AS2_ENST00000510827.1_RNA|MYLK-AS2_ENST00000515464.1_RNA			Q15746	MYLK_HUMAN	myosin light chain kinase	1152	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 7.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGACGGAGCAGAGTGAGCCTG	0.582																																																	0													77.0	66.0	70.0					3																	123411691		2203	4300	6503	SO:0001819	synonymous_variant	4638			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3456C>T	3.37:g.123411691G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	CCDS46896.1																																																																																				0.582	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1		NM_053025	
MYLK	4638	hgsc.bcm.edu;ucsc.edu	37	3	123411694	123411694	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr3:123411694delT	ENST00000475616.1	-	16	3452	c.3453delA	c.(3451-3453)tcafs	p.S1151fs	MYLK_ENST00000360772.3_Frame_Shift_Del_p.S1151fs|MYLK_ENST00000359169.1_Frame_Shift_Del_p.S1151fs|MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000360304.3_Frame_Shift_Del_p.S1151fs|MYLK_ENST00000346322.5_Frame_Shift_Del_p.S1082fs|MYLK_ENST00000354792.5_5'Flank|MYLK-AS2_ENST00000510827.1_RNA|MYLK-AS2_ENST00000515464.1_RNA			Q15746	MYLK_HUMAN	myosin light chain kinase	1151	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 7.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CGGAGCAGAGTGAGCCTGGGG	0.592																																																	0													76.0	65.0	69.0					3																	123411694		2203	4300	6503	SO:0001589	frameshift_variant	4638			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3453delA	3.37:g.123411694delT	ENSP00000418335:p.Ser1151fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Frame_Shift_Del	DEL	ENST00000475616.1	37	CCDS46896.1																																																																																				0.592	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1		NM_053025	
MUC4	4585	broad.mit.edu	37	3	195511144	195511144	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr3:195511144G>T	ENST00000463781.3	-	2	7766	c.7307C>A	c.(7306-7308)aCc>aAc	p.T2436N	MUC4_ENST00000475231.1_Missense_Mutation_p.T2436N|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T2436N(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGAAACGTTGGTGACAGGAAG	0.597																																																	1	Substitution - Missense(1)	kidney(1)											60.0	58.0	58.0					3																	195511144		645	1581	2226	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.7307C>A	3.37:g.195511144G>T	ENSP00000417498:p.Thr2436Asn	Somatic		WXS	Illumina GAIIx	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	G	5.707	0.314991	0.10789	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.35236	1.32;1.45	.	.	.	.	.	.	.	.	T	0.30541	0.0768	N	0.19112	0.55	0.19300	N	0.99998	P	0.51653	0.947	P	0.55965	0.788	T	0.18555	-1.0333	7	.	.	.	.	5.0679	0.14591	0.2645:0.0:0.7355:0.0	.	2436	E7ESK3	.	N	2436	ENSP00000417498:T2436N;ENSP00000420243:T2436N	.	T	-	2	0	MUC4	196995539	.	.	0.026000	0.17262	0.000000	0.00434	.	.	-0.437000	0.07243	0.000000	0.15137	ACC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
NDN	4692	broad.mit.edu;hgsc.bcm.edu	37	15	23931882	23931882	+	Silent	SNP	G	G	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr15:23931882G>A	ENST00000331837.4	-	1	568	c.483C>T	c.(481-483)caC>caT	p.H161H		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	161	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.H161H(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		ACTCCATGGTGTGCAGGCTGG	0.637									Prader-Willi syndrome																																								1	Substitution - coding silent(1)	kidney(1)											32.0	32.0	32.0					15																	23931882		2203	4300	6503	SO:0001819	synonymous_variant	4692	Familial Cancer Database	Prader-Labhart-Willi syndrome	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.483C>T	15.37:g.23931882G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2R6Z5	Silent	SNP	ENST00000331837.4	37	CCDS10014.1																																																																																				0.637	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2		NM_002487	
NIPBL	25836	broad.mit.edu;hgsc.bcm.edu	37	5	37044460	37044460	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr5:37044460T>A	ENST00000282516.8	+	35	6619	c.6120T>A	c.(6118-6120)gaT>gaA	p.D2040E	NIPBL_ENST00000448238.2_Missense_Mutation_p.D2040E	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2040					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.D2040E(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CGCAAAATGATTTCATGGTTA	0.353																																																	2	Substitution - Missense(2)	kidney(2)											58.0	57.0	57.0					5																	37044460		2203	4300	6503	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6120T>A	5.37:g.37044460T>A	ENSP00000282516:p.Asp2040Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	T	15.37	2.812305	0.50527	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	T;T	0.66638	-0.22;-0.22	5.25	1.43	0.22495	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64627	0.2615	M	0.74258	2.255	0.43819	D	0.996388	B;P	0.36010	0.397;0.532	B;B	0.41135	0.189;0.348	T	0.55438	-0.8141	10	0.21014	T	0.42	-12.9684	9.1093	0.36718	0.0:0.2864:0.0:0.7136	.	2040;2040	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	E	2040	ENSP00000282516:D2040E;ENSP00000406266:D2040E	ENSP00000282516:D2040E	D	+	3	2	NIPBL	37080217	1.000000	0.71417	0.999000	0.59377	0.896000	0.52359	1.636000	0.37144	0.009000	0.14813	-0.353000	0.07706	GAT		0.353	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1		NM_015384	
PADI6	353238	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	17727910	17727910	+	RNA	SNP	C	C	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr1:17727910C>T	ENST00000434762.2	+	0	2112							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.F686F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CCTTTGCCTTCAAATGGTGGA	0.557																																																	1	Substitution - coding silent(1)	kidney(1)											39.0	41.0	40.0					1																	17727910		2060	4187	6247			353238			AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17727910C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q330K5|Q70SX3	Nonsense_Mutation	SNP	ENST00000434762.2	37																																																																																					0.557	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4		NM_207421	
PCLO	27445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	82785211	82785211	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr7:82785211G>T	ENST00000333891.9	-	2	1083	c.746C>A	c.(745-747)tCa>tAa	p.S249*	PCLO_ENST00000423517.2_Nonsense_Mutation_p.S249*	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.S249*(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGAGGTTGTGATTTAATTTT	0.493																																																	3	Substitution - Nonsense(3)	kidney(3)											96.0	87.0	90.0					7																	82785211		1970	4165	6135	SO:0001587	stop_gained	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.746C>A	7.37:g.82785211G>T	ENSP00000334319:p.Ser249*	Somatic		WXS	Illumina HiSeq	Phase_I		Nonsense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	41	8.808845	0.98962	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	.	.	.	5.57	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.8284	0.52280	0.0826:0.0:0.9174:0.0	.	.	.	.	X	249	.	ENSP00000334319:S249X	S	-	2	0	PCLO	82623147	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	2.015000	0.40961	1.361000	0.45981	0.655000	0.94253	TCA		0.493	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5		NM_014510	
PDXDC2P	283970	broad.mit.edu	37	16	70012167	70012167	+	RNA	SNP	C	C	G	rs562054520	byFrequency	TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr16:70012167C>G	ENST00000531894.1	-	0	2519				RP11-419C5.2_ENST00000525562.1_RNA	NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)	p.A188A(2)|p.A156A(1)									GCAACTCTTGCGCACGTTGAA	0.453													c|||	2	0.000399361	0.0	0.0	5008	,	,		18373	0.001		0.001	False		,,,				2504	0.0																3	Substitution - coding silent(3)	kidney(3)																																										0					16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70012167C>G		Somatic		WXS	Illumina GAIIx	Phase_I	A8K9Z5	Silent	SNP	ENST00000531894.1	37																																																																																					0.453	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000395258.1			
PODN	127435	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	53535790	53535790	+	Missense_Mutation	SNP	G	G	T	rs201199782		TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr1:53535790G>T	ENST00000312553.5	+	2	414	c.407G>T	c.(406-408)cGt>cTt	p.R136L	PODN_ENST00000395871.2_Missense_Mutation_p.R136L|PODN_ENST00000371500.3_Missense_Mutation_p.R117L|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	88					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)	p.R136L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATTGACCTGCGTGAGTTCCCG	0.677																																																	1	Substitution - Missense(1)	kidney(1)											80.0	64.0	69.0					1																	53535790		2203	4300	6503	SO:0001583	missense	127435			AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.407G>T	1.37:g.53535790G>T	ENSP00000308315:p.Arg136Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	CCDS573.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082602	0.55861	.	.	ENSG00000174348	ENST00000371500;ENST00000395871;ENST00000312553	T;T;T	0.24151	3.65;1.87;2.25	4.82	4.82	0.62117	.	1.277270	0.05151	N	0.496066	T	0.31575	0.0801	L	0.38838	1.175	0.37345	D	0.910573	P;P;P	0.42871	0.622;0.792;0.668	P;B;B	0.44673	0.457;0.361;0.343	T	0.07731	-1.0757	10	0.51188	T	0.08	.	13.2558	0.60079	0.0:0.0:1.0:0.0	.	136;117;136	Q7Z5L7-4;Q7Z5L7-2;Q7Z5L7-3	.;.;.	L	117;136;136	ENSP00000360555:R117L;ENSP00000379212:R136L;ENSP00000308315:R136L	ENSP00000308315:R136L	R	+	2	0	PODN	53308378	0.986000	0.35501	0.969000	0.41365	0.992000	0.81027	2.728000	0.47319	2.509000	0.84616	0.561000	0.74099	CGT		0.677	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1		NM_153703	
POLR1B	84172	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	113308515	113308515	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr2:113308515C>A	ENST00000263331.5	+	5	1278	c.698C>A	c.(697-699)aCt>aAt	p.T233N	POLR1B_ENST00000417433.2_Missense_Mutation_p.T177N|POLR1B_ENST00000541869.1_Missense_Mutation_p.T271N|POLR1B_ENST00000537335.1_Missense_Mutation_p.T22N|POLR1B_ENST00000409894.3_Missense_Mutation_p.T233N	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	233					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.T233N(1)		breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GAAAATGGCACTGTTATGTTG	0.358																																					Ovarian(16;256 576 9537 23969 41147)												1	Substitution - Missense(1)	kidney(1)											229.0	215.0	219.0					2																	113308515		2203	4300	6503	SO:0001583	missense	84172			AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.698C>A	2.37:g.113308515C>A	ENSP00000263331:p.Thr233Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.391314	0.25118	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000537335;ENST00000417433	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	5.02	5.02	0.67125	RNA polymerase, beta subunit, protrusion (1);RNA polymerase Rpb2, domain 2 (1);	0.210083	0.49916	D	0.000133	T	0.58764	0.2145	N	0.16233	0.39	0.80722	D	1	B;D;B;B	0.62365	0.02;0.991;0.0;0.025	B;P;B;B	0.56434	0.023;0.798;0.002;0.024	T	0.53315	-0.8456	10	0.13108	T	0.6	-18.4644	17.4839	0.87682	0.0:1.0:0.0:0.0	.	271;233;177;233	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	N	233;271;233;22;177	ENSP00000263331:T233N;ENSP00000444136:T271N;ENSP00000387143:T233N;ENSP00000437914:T22N;ENSP00000405358:T177N	ENSP00000263331:T233N	T	+	2	0	POLR1B	113024986	1.000000	0.71417	0.959000	0.39883	0.933000	0.57130	4.980000	0.63812	2.493000	0.84123	0.650000	0.86243	ACT		0.358	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1		NM_019014	
PREX1	57580	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	47266686	47266686	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr20:47266686G>A	ENST00000371941.3	-	24	2898	c.2876C>T	c.(2875-2877)cCc>cTc	p.P959L	PREX1_ENST00000396220.1_Missense_Mutation_p.P959L	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	959					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P959L(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CAGCGGGTGGGGCTCCAGGGG	0.602																																																	2	Substitution - Missense(2)	kidney(2)											74.0	84.0	81.0					20																	47266686		2203	4300	6503	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2876C>T	20.37:g.47266686G>A	ENSP00000361009:p.Pro959Leu	Somatic		WXS	Illumina HiSeq	Phase_I	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	9.884	1.202466	0.22121	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.45276	0.9;0.9	5.71	3.76	0.43208	.	0.389610	0.21433	U	0.074610	T	0.31482	0.0798	L	0.51422	1.61	0.54753	D	0.999985	B;B	0.19935	0.0;0.04	B;B	0.24269	0.002;0.052	T	0.05767	-1.0865	10	0.10636	T	0.68	.	6.1104	0.20097	0.1379:0.0:0.5948:0.2672	.	959;256	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	L	959	ENSP00000361009:P959L;ENSP00000379522:P959L	ENSP00000361009:P959L	P	-	2	0	PREX1	46700093	1.000000	0.71417	0.943000	0.38184	0.706000	0.40770	3.073000	0.50057	0.765000	0.33221	0.655000	0.94253	CCC		0.602	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1		NM_020820	
RBM17	84991	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	6147033	6147033	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr10:6147033G>A	ENST00000446108.1	+	4	1024	c.380G>A	c.(379-381)aGa>aAa	p.R127K	RBM17_ENST00000379888.4_Missense_Mutation_p.R127K	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	127					alternative mRNA splicing, via spliceosome (GO:0000380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R127K(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						GAGCTGGAAAGACAAAAGGAA	0.403																																																	1	Substitution - Missense(1)	kidney(1)											112.0	123.0	119.0					10																	6147033		2203	4300	6503	SO:0001583	missense	84991			AF083384	CCDS7077.1	10p15.1	2013-01-28			ENSG00000134453	ENSG00000134453		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	16944	protein-coding gene	gene with protein product	"""splicing factor 45kDa"""	606935				9731529	Standard	NM_032905		Approved	SPF45, MGC14439	uc001ijb.3	Q96I25	OTTHUMG00000017618	ENST00000446108.1:c.380G>A	10.37:g.6147033G>A	ENSP00000388638:p.Arg127Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q96GY6	Missense_Mutation	SNP	ENST00000446108.1	37	CCDS7077.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.093697|4.093697	0.76870|0.76870	.|.	.|.	ENSG00000134453|ENSG00000134453	ENST00000447032|ENST00000372795;ENST00000379888;ENST00000437845;ENST00000432931;ENST00000446108;ENST00000418631	.|T;T;T;T	.|0.44881	.|0.91;0.91;0.91;0.91	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.38558|0.38558	0.1045|0.1045	L|L	0.49640|0.49640	1.575|1.575	0.80722|0.80722	D|D	1|1	.|P	.|0.39216	.|0.664	.|B	.|0.36092	.|0.217	T|T	0.16867|0.16867	-1.0388|-1.0388	5|10	.|0.11485	.|T	.|0.65	-23.0839|-23.0839	19.8589|19.8589	0.96776|0.96776	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|127	.|Q96I25	.|SPF45_HUMAN	N|K	34|95;127;95;127;127;127	.|ENSP00000369218:R127K;ENSP00000408214:R127K;ENSP00000388638:R127K;ENSP00000402303:R127K	.|ENSP00000361881:R95K	D|R	+|+	1|2	0|0	RBM17|RBM17	6187039|6187039	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.150000|0.150000	0.21749|0.21749	9.546000|9.546000	0.98097|0.98097	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	GAC|AGA		0.403	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046635.1		NM_032905	
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																																	0																																												727956			AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000445430.1	37																																																																																					0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			
SDK1	221935	broad.mit.edu;ucsc.edu	37	7	4169711	4169711	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr7:4169711G>C	ENST00000404826.2	+	27	4250	c.4111G>C	c.(4111-4113)Gag>Cag	p.E1371Q	SDK1_ENST00000389531.3_Missense_Mutation_p.E1371Q	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1371	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.E1371Q(2)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCTCATCCTGGAGCGCACCAA	0.627																																																	2	Substitution - Missense(2)	lung(1)|kidney(1)											39.0	42.0	41.0					7																	4169711		2203	4300	6503	SO:0001583	missense	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4111G>C	7.37:g.4169711G>C	ENSP00000385899:p.Glu1371Gln	Somatic		WXS	Illumina GAIIx	Phase_I	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590506	0.86851	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.53206	0.63;0.63	5.67	5.67	0.87782	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.70228	0.3200	M	0.74881	2.28	0.46011	D	0.998814	D;D	0.71674	0.998;0.995	D;P	0.70716	0.97;0.867	T	0.71649	-0.4529	10	0.62326	D	0.03	.	19.7534	0.96277	0.0:0.0:1.0:0.0	.	1371;1371	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	Q	1371	ENSP00000385899:E1371Q;ENSP00000374182:E1371Q	ENSP00000374182:E1371Q	E	+	1	0	SDK1	4136237	1.000000	0.71417	0.988000	0.46212	0.957000	0.61999	9.041000	0.93788	2.686000	0.91538	0.655000	0.94253	GAG		0.627	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1		NM_152744	
SLC2A14	144195	broad.mit.edu;hgsc.bcm.edu	37	12	7967055	7967055	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr12:7967055C>T	ENST00000543909.1	-	16	2179	c.1420G>A	c.(1420-1422)Gtc>Atc	p.V474I	SLC2A14_ENST00000340749.5_Missense_Mutation_p.V451I|SLC2A14_ENST00000542546.1_Missense_Mutation_p.V365I|SLC2A14_ENST00000539924.1_Missense_Mutation_p.V489I|SLC2A14_ENST00000396589.2_Missense_Mutation_p.V474I|SLC2A14_ENST00000431042.2_Missense_Mutation_p.V451I|SLC2A14_ENST00000542505.1_Missense_Mutation_p.V115I|SLC2A14_ENST00000535295.1_Missense_Mutation_p.V365I			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	474					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)	p.V474I(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GTCTCAGGGACTTTGAAGAAG	0.483																																																	1	Substitution - Missense(1)	kidney(1)											73.0	70.0	71.0					12																	7967055		2203	4300	6503	SO:0001583	missense	144195			AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1420G>A	12.37:g.7967055C>T	ENSP00000440480:p.Val474Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.363439	0.61513	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000542505;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	T;T;T;T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23;-1.23	3.81	1.94	0.25998	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.120780	0.56097	D	0.000039	T	0.81451	0.4825	M	0.69823	2.125	0.49582	D	0.999802	D;D;P;B	0.59357	0.985;0.959;0.791;0.332	P;P;P;P	0.59012	0.85;0.764;0.523;0.597	T	0.77107	-0.2710	10	0.41790	T	0.15	.	6.9467	0.24522	0.0:0.7188:0.1771:0.104	.	489;365;451;474	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	I	451;474;451;115;474;365;365;489	ENSP00000340450:V451I;ENSP00000440480:V474I;ENSP00000407287:V451I;ENSP00000438484:V115I;ENSP00000379834:V474I;ENSP00000440492:V365I;ENSP00000443903:V365I;ENSP00000445929:V489I	ENSP00000340450:V451I	V	-	1	0	SLC2A14	7858322	1.000000	0.71417	0.997000	0.53966	0.820000	0.46376	6.956000	0.76013	0.218000	0.20820	-0.481000	0.04817	GTC		0.483	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2		NM_153449	
SLC8A2	6543	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	47969450	47969450	+	Silent	SNP	G	G	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr19:47969450G>T	ENST00000236877.6	-	2	606	c.211C>A	c.(211-213)Cgg>Agg	p.R71R	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	71					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)	p.R71R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		ACCACTGCCCGTGCCGCCTTG	0.642																																																	1	Substitution - coding silent(1)	kidney(1)											70.0	52.0	58.0					19																	47969450		2203	4300	6503	SO:0001819	synonymous_variant	6543			AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.211C>A	19.37:g.47969450G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DYQ9	Silent	SNP	ENST00000236877.6	37	CCDS33065.1																																																																																				0.642	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			
SLITRK6	84189	broad.mit.edu;ucsc.edu	37	13	86368849	86368849	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr13:86368849G>A	ENST00000400286.2	-	2	2393	c.1795C>T	c.(1795-1797)Cga>Tga	p.R599*		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	599					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.R599*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GTAAGAGATCGTAAAATAGTA	0.423																																																	1	Substitution - Nonsense(1)	kidney(1)											151.0	147.0	149.0					13																	86368849		1997	4177	6174	SO:0001587	stop_gained	84189			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1795C>T	13.37:g.86368849G>A	ENSP00000383143:p.Arg599*	Somatic		WXS	Illumina GAIIx	Phase_I	A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Nonsense_Mutation	SNP	ENST00000400286.2	37	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	G	38	6.761020	0.97817	.	.	ENSG00000184564	ENST00000400286	.	.	.	5.65	3.2	0.36748	.	0.543993	0.17620	U	0.167754	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-3.8753	12.3141	0.54946	0.0:0.0:0.4276:0.5724	.	.	.	.	X	599	.	ENSP00000383143:R599X	R	-	1	2	SLITRK6	85266850	0.238000	0.23825	0.077000	0.20336	0.051000	0.14879	1.702000	0.37836	0.408000	0.25621	-0.262000	0.10625	CGA		0.423	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2		NM_032229	
SPG7	6687	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	89595969	89595969	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr16:89595969A>T	ENST00000268704.2	+	6	858	c.843A>T	c.(841-843)gaA>gaT	p.E281D	SPG7_ENST00000341316.2_Missense_Mutation_p.E281D	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	281					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.E281D(2)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CTGGAAGGGAAGGTGGATTCA	0.488																																																	2	Substitution - Missense(2)	kidney(2)											115.0	96.0	102.0					16																	89595969		2198	4300	6498	SO:0001583	missense	6687			Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.843A>T	16.37:g.89595969A>T	ENSP00000268704:p.Glu281Asp	Somatic		WXS	Illumina HiSeq	Phase_I	O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	A	9.844	1.191793	0.21954	.	.	ENSG00000197912	ENST00000268704;ENST00000341316	D;D	0.93712	-3.09;-3.27	5.7	5.7	0.88788	Peptidase M41, FtsH (2);	0.139680	0.64402	D	0.000004	D	0.84456	0.5476	N	0.05078	-0.115	0.35867	D	0.827947	B;B	0.12630	0.001;0.006	B;B	0.15052	0.003;0.012	T	0.82198	-0.0576	10	0.12766	T	0.61	.	15.6313	0.76912	1.0:0.0:0.0:0.0	.	281;281	Q9UQ90;Q9UQ90-2	SPG7_HUMAN;.	D	281	ENSP00000268704:E281D;ENSP00000341157:E281D	ENSP00000268704:E281D	E	+	3	2	SPG7	88123470	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	1.832000	0.39151	2.186000	0.69663	0.456000	0.33151	GAA		0.488	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2		NM_003119	
TRIM51	84767	broad.mit.edu	37	11	55653110	55653110	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr11:55653110G>A	ENST00000449290.2	+	2	298	c.206G>A	c.(205-207)tGt>tAt	p.C69Y	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	69						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.C69Y(1)									ACTGACATTTGTTTGAAGAAC	0.488																																																	1	Substitution - Missense(1)	kidney(1)											31.0	27.0	28.0					11																	55653110		692	1591	2283	SO:0001583	missense	0			BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.206G>A	11.37:g.55653110G>A	ENSP00000395086:p.Cys69Tyr	Somatic		WXS	Illumina GAIIx	Phase_I	A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37		.	.	.	.	.	.	.	.	.	.	.	0.001	-2.983699	0.00046	.	.	ENSG00000124900	ENST00000449290	D	0.83837	-1.77	0.803	-1.61	0.08399	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.56016	0.1957	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.08055	0.003	T	0.43686	-0.9376	9	0.07030	T	0.85	.	2.167	0.03840	0.2456:0.0:0.2532:0.5011	.	69	Q9BSJ1	SPRY5_HUMAN	Y	69	ENSP00000395086:C69Y	ENSP00000395086:C69Y	C	+	2	0	SPRYD5	55409686	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.018000	0.12568	-0.972000	0.03559	0.152000	0.16155	TGT		0.488	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1		NM_032681	
ST3GAL3	6487	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	44365370	44365370	+	Silent	SNP	T	T	C			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr1:44365370T>C	ENST00000361392.4	+	9	892	c.715T>C	c.(715-717)Ttg>Ctg	p.L239L	ST3GAL3_ENST00000347631.2_Silent_p.L254L|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000533933.1_Silent_p.L239L|ST3GAL3_ENST00000361746.4_Silent_p.L308L|ST3GAL3_ENST00000361400.4_Silent_p.L223L|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000372369.1_Silent_p.L239L|ST3GAL3_ENST00000353126.3_Silent_p.L239L|ST3GAL3_ENST00000372374.2_Silent_p.L208L|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000262915.3_Silent_p.L308L|ST3GAL3_ENST00000332628.6_Silent_p.L208L|ST3GAL3_ENST00000531993.1_Silent_p.L223L|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000335430.6_Intron|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000372372.2_Silent_p.L277L|ST3GAL3_ENST00000351035.3_Silent_p.L277L|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000372375.2_Silent_p.L293L|ST3GAL3_ENST00000372368.2_Silent_p.L293L|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000372366.1_Intron	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	239					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)	p.L308L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CTTTAAGTGGTTGAAATACAT	0.587																																																	1	Substitution - coding silent(1)	kidney(1)											69.0	69.0	69.0					1																	44365370		2203	4300	6503	SO:0001819	synonymous_variant	6487			L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"""Sialyltransferases"""	10866	protein-coding gene	gene with protein product	"""ST3Gal III"""	606494	"""sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)"", ""mental retardation, non-syndromic, autosomal recessive, 12"""	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.715T>C	1.37:g.44365370T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Silent	SNP	ENST00000361392.4	37	CCDS492.1																																																																																				0.587	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1		NM_174963	
SVIL	6840	hgsc.bcm.edu	37	10	29779789	29779789	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr10:29779789C>T	ENST00000355867.4	-	22	4931	c.4179G>A	c.(4177-4179)atG>atA	p.M1393I	SVIL_ENST00000375400.3_Missense_Mutation_p.M967I|SVIL_ENST00000535393.1_Missense_Mutation_p.M307I|SVIL_ENST00000538146.1_Missense_Mutation_p.M185I|SVIL_ENST00000375398.2_Missense_Mutation_p.M1393I	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1393					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TTTCTACTTTCATCCGCTTTG	0.468																																																	0													84.0	87.0	86.0					10																	29779789		2203	4300	6503	SO:0001583	missense	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4179G>A	10.37:g.29779789C>T	ENSP00000348128:p.Met1393Ile	Somatic		WXS	Illumina HiSeq	Phase_I	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	7.970	0.748827	0.15710	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;D	0.85861	2.83;2.86;2.86;2.72;-2.04	3.88	2.98	0.34508	.	0.080390	0.85682	D	0.000000	T	0.79246	0.4413	L	0.47016	1.485	0.48395	D	0.999644	B;B;B;B	0.19935	0.0;0.001;0.001;0.04	B;B;B;B	0.15870	0.003;0.002;0.002;0.014	T	0.73924	-0.3829	10	0.41790	T	0.15	-29.8653	11.3688	0.49687	0.0:0.9105:0.0:0.0895	.	307;185;967;1393	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	I	967;1393;1393;307;347;185	ENSP00000364549:M967I;ENSP00000364547:M1393I;ENSP00000348128:M1393I;ENSP00000445472:M307I;ENSP00000440343:M185I	ENSP00000348128:M1393I	M	-	3	0	SVIL	29819795	1.000000	0.71417	0.978000	0.43139	0.001000	0.01503	5.444000	0.66587	0.848000	0.35191	-0.350000	0.07774	ATG		0.468	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			
TLL1	7092	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	166929189	166929189	+	Silent	SNP	C	C	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr4:166929189C>T	ENST00000061240.2	+	7	1553	c.906C>T	c.(904-906)aaC>aaT	p.N302N	TLL1_ENST00000513213.1_Silent_p.N302N|TLL1_ENST00000507499.1_Silent_p.N302N	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	302	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.N302N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATGCCAGGAACACCTTCTCAA	0.408																																																	1	Substitution - coding silent(1)	kidney(1)											118.0	108.0	111.0					4																	166929189		2203	4300	6503	SO:0001819	synonymous_variant	7092			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.906C>T	4.37:g.166929189C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	ENST00000061240.2	37	CCDS3811.1																																																																																				0.408	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			
TMF1	7110	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	69073260	69073260	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr3:69073260A>C	ENST00000398559.2	-	16	3300	c.3084T>G	c.(3082-3084)aaT>aaG	p.N1028K	CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|TMF1_ENST00000489370.1_5'Flank|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.N1031K			P82094	TMF1_HUMAN	TATA element modulatory factor 1	1028					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)	p.N1028K(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		CAAGTTCATCATTTTGATTTG	0.323																																																	1	Substitution - Missense(1)	kidney(1)											173.0	159.0	163.0					3																	69073260		1831	4081	5912	SO:0001583	missense	7110				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.3084T>G	3.37:g.69073260A>C	ENSP00000381567:p.Asn1028Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	A	17.43	3.388276	0.61956	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	D;D	0.83837	-1.77;-1.77	5.59	3.24	0.37175	.	0.050123	0.85682	D	0.000000	D	0.87124	0.6099	L	0.61036	1.89	0.58432	D	0.999995	D;D	0.89917	1.0;0.999	D;D	0.74674	0.983;0.984	T	0.82912	-0.0222	10	0.26408	T	0.33	-19.3115	9.787	0.40681	0.8607:0.0:0.1393:0.0	.	1031;1028	P82094-2;P82094	.;TMF1_HUMAN	K	1028;1031;944	ENSP00000381567:N1028K;ENSP00000438706:N1031K	ENSP00000348582:N944K	N	-	3	2	TMF1	69155950	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.261000	0.32980	0.415000	0.25817	0.455000	0.32223	AAT		0.323	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1		NM_007114	
TMPRSS15	5651	broad.mit.edu;hgsc.bcm.edu	37	21	19716370	19716370	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr21:19716370G>T	ENST00000284885.3	-	11	1212	c.1179C>A	c.(1177-1179)taC>taA	p.Y393*		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	393	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.Y393*(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GGGTAGAAATGTAAAATCCTG	0.383																																																	1	Substitution - Nonsense(1)	kidney(1)											59.0	63.0	62.0					21																	19716370		2203	4300	6503	SO:0001587	stop_gained	5651				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1179C>A	21.37:g.19716370G>T	ENSP00000284885:p.Tyr393*	Somatic		WXS	Illumina HiSeq	Phase_I	Q2NKL7	Nonsense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	G	35	5.414797	0.96092	.	.	ENSG00000154646	ENST00000284885	.	.	.	5.15	0.677	0.17964	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.2367	0.20766	0.5551:0.0:0.4449:0.0	.	.	.	.	X	393	.	.	Y	-	3	2	TMPRSS15	18638241	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	1.372000	0.34261	0.286000	0.22352	0.460000	0.39030	TAC		0.383	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2		NM_002772	
TNFSF14	8740	broad.mit.edu	37	19	6669873	6669873	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr19:6669873T>G	ENST00000599359.1	-	2	589	c.208A>C	c.(208-210)Acc>Ccc	p.T70P	TNFSF14_ENST00000245912.3_Intron|TNFSF14_ENST00000326176.9_Intron			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	70					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)	p.T70P(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						GGCAGGCGGGTGACCATCTCT	0.652																																																	1	Substitution - Missense(1)	kidney(1)											50.0	49.0	49.0					19																	6669873		2202	4300	6502	SO:0001583	missense	8740			AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.208A>C	19.37:g.6669873T>G	ENSP00000469049:p.Thr70Pro	Somatic		WXS	Illumina GAIIx	Phase_I	A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Missense_Mutation	SNP	ENST00000599359.1	37	CCDS12171.1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.999471	0.35320	.	.	ENSG00000125735	ENST00000245912	T	0.30714	1.52	4.89	-9.78	0.00496	.	1.411940	0.04554	U	0.390410	T	0.20536	0.0494	L	0.44542	1.39	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.26538	-1.0100	10	0.41790	T	0.15	-5.1032	6.9626	0.24605	0.0:0.2632:0.2157:0.5211	.	70	O43557	TNF14_HUMAN	P	70	ENSP00000245912:T70P	ENSP00000245912:T70P	T	-	1	0	TNFSF14	6620873	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-3.729000	0.00381	-1.317000	0.02292	-0.313000	0.08912	ACC		0.652	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1			
SMG1P7	100506060	broad.mit.edu	37	16	70268080	70268080	+	RNA	SNP	T	T	C			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr16:70268080T>C	ENST00000459379.1	-	0	0																											GTCTTACTGTTGGCTAAAAGG	0.373																																																	0																																												0																															16.37:g.70268080T>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000459379.1	37																																																																																					0.373	snoU13.216-201	NOVEL	basic	snoRNA	snoRNA				
Unknown	0	broad.mit.edu	37	9	68728904	68728904	+	IGR	SNP	T	T	C			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr9:68728904T>C								CR786580.1 (215717 upstream) : AL353763.2 (268504 downstream)																							GCTTGATATGTTGGTGAGTCA	0.284																																																	0																																										SO:0001628	intergenic_variant	0																															9.37:g.68728904T>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.284									
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10183858	10183859	+	Frame_Shift_Ins	INS	-	-	CA	rs17855706		TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr3:10183858_10183859insCA	ENST00000256474.2	+	1	1167_1168	c.327_328insCA	c.(328-330)cacfs	p.H110fs	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Frame_Shift_Ins_p.H110fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	110	Involved in binding to CCT complex.		H -> Y (in dbSNP:rs17855706). {ECO:0000269|PubMed:15489334}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(2)|p.H110fs*49(2)|p.H110>RIN(1)|p.I109_R113del(1)|p.G106fs*49(1)|p.H110_S111del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GCCGCCGCATCCACAGCTACCG	0.688		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	8	Deletion - Frameshift(3)|Deletion - In frame(2)|Unknown(2)|Complex - insertion inframe(1)	kidney(8)																																								SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.330_331dupCA	3.37:g.10183861_10183862dupCA	ENSP00000256474:p.His110fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Frame_Shift_Ins	INS	ENST00000256474.2	37	CCDS2597.1																																																																																				0.688	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
ZNF398	57541	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	148875840	148875840	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr7:148875840delT	ENST00000475153.1	+	6	1143	c.876delT	c.(874-876)gctfs	p.A292fs	ZNF398_ENST00000335901.4_Frame_Shift_Del_p.A121fs|ZNF398_ENST00000420008.2_Frame_Shift_Del_p.A121fs|ZNF398_ENST00000491174.1_Frame_Shift_Del_p.A121fs|ZNF398_ENST00000483892.1_Frame_Shift_Del_p.A121fs|ZNF398_ENST00000426851.2_Frame_Shift_Del_p.A121fs|ZNF398_ENST00000540950.1_Frame_Shift_Del_p.A297fs			Q8TD17	ZN398_HUMAN	zinc finger protein 398	292					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CAAAGGATGCTTTTTCAGATG	0.507																																																	0													217.0	207.0	210.0					7																	148875840		2203	4300	6503	SO:0001589	frameshift_variant	57541			AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.876delT	7.37:g.148875840delT	ENSP00000420418:p.Ala292fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Frame_Shift_Del	DEL	ENST00000475153.1	37	CCDS5894.1																																																																																				0.507	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			
ZNF615	284370	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	52497620	52497620	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5985-01A-11D-1669-08	TCGA-CZ-5985-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad5eae3d-2f73-49d2-be47-5891e7772bc6	9cb6f5df-835c-4a8b-8524-2a889e3049af	g.chr19:52497620A>G	ENST00000602063.1	-	6	1058	c.709T>C	c.(709-711)Tgt>Cgt	p.C237R	ZNF615_ENST00000598071.1_Missense_Mutation_p.C248R|ZNF615_ENST00000391795.3_Missense_Mutation_p.C242R|ZNF615_ENST00000594083.1_Missense_Mutation_p.C248R|ZNF615_ENST00000376716.5_Missense_Mutation_p.C237R			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C237R(1)|p.C248R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCTTTCCCACACATACTGCAT	0.408																																																	2	Substitution - Missense(2)	kidney(2)											159.0	152.0	155.0					19																	52497620		2203	4300	6503	SO:0001583	missense	284370			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.709T>C	19.37:g.52497620A>G	ENSP00000473089:p.Cys237Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.400244	0.42613	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	D;D	0.85955	-2.05;-2.05	3.23	3.23	0.37069	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93986	0.8074	H	0.96111	3.77	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	D	0.94557	0.7759	9	0.72032	D	0.01	.	10.9689	0.47428	1.0:0.0:0.0:0.0	.	242;244;248;237	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	R	237;247;242;247	ENSP00000365906:C237R;ENSP00000375672:C242R	ENSP00000347019:C247R	C	-	1	0	ZNF615	57189432	0.961000	0.32948	0.134000	0.22075	0.571000	0.35966	3.755000	0.55197	1.470000	0.48102	0.454000	0.30748	TGT		0.408	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1		NM_198480	
