#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
ACAP2	23527	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	195066024	195066024	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr3:195066024C>A	ENST00000326793.6	-	5	538	c.308G>T	c.(307-309)aGa>aTa	p.R103I		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	103	BAR.				cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.R103I(1)		cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						CTTAATTGATCTCTGAGTTTG	0.294																																																	1	Substitution - Missense(1)	kidney(1)											67.0	66.0	67.0					3																	195066024		2202	4296	6498	SO:0001583	missense	23527				CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.308G>T	3.37:g.195066024C>A	ENSP00000324287:p.Arg103Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	ENST00000326793.6	37	CCDS33924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.161589|4.161589	0.78226|0.78226	.|.	.|.	ENSG00000114331|ENSG00000114331	ENST00000423531|ENST00000326793	.|T	.|0.00514	.|6.88	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.02156|0.02156	0.0067|0.0067	M|M	0.81497|0.81497	2.545|2.545	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.81914	.|0.995	T|T	0.56498|0.56498	-0.7969|-0.7969	5|10	.|0.66056	.|D	.|0.02	.|.	18.651|18.651	0.91430|0.91430	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|103	.|Q15057	.|ACAP2_HUMAN	D|I	56|103	.|ENSP00000324287:R103I	.|ENSP00000324287:R103I	E|R	-|-	3|2	2|0	ACAP2|ACAP2	196547313|196547313	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.159000|7.159000	0.77483|0.77483	2.661000|2.661000	0.90470|0.90470	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.294	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2		NM_012287	
ANKRD22	118932	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	90591656	90591656	+	Missense_Mutation	SNP	C	C	A	rs143516492		TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr10:90591656C>A	ENST00000371930.4	-	2	359	c.149G>T	c.(148-150)cGa>cTa	p.R50L		NM_144590.2	NP_653191.2	Q5VYY1	ANR22_HUMAN	ankyrin repeat domain 22	50								p.R50L(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		CACATGCCCTCGCCTGCAAGC	0.468																																																	1	Substitution - Missense(1)	kidney(1)											240.0	224.0	229.0					10																	90591656		2203	4300	6503	SO:0001583	missense	118932			BC021671	CCDS7390.1	10q23.31	2013-09-20			ENSG00000152766	ENSG00000152766		"""Ankyrin repeat domain containing"""	28321	protein-coding gene	gene with protein product						12477932	Standard	NM_144590		Approved	MGC22805	uc001kfj.4	Q5VYY1	OTTHUMG00000018699	ENST00000371930.4:c.149G>T	10.37:g.90591656C>A	ENSP00000360998:p.Arg50Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B2R9Y7|Q8WU06	Missense_Mutation	SNP	ENST00000371930.4	37	CCDS7390.1	.	.	.	.	.	.	.	.	.	.	C	1.248	-0.619409	0.03663	.	.	ENSG00000152766	ENST00000371930	T	0.64085	-0.08	5.33	4.43	0.53597	Ankyrin repeat-containing domain (4);	0.184558	0.47852	N	0.000203	T	0.45377	0.1339	L	0.35793	1.09	0.42323	D	0.992263	B	0.06786	0.001	B	0.12837	0.008	T	0.27571	-1.0070	10	0.11182	T	0.66	-5.1368	6.8772	0.24153	0.1763:0.736:0.0:0.0878	.	50	Q5VYY1	ANR22_HUMAN	L	50	ENSP00000360998:R50L	ENSP00000360998:R50L	R	-	2	0	ANKRD22	90581636	0.139000	0.22563	0.380000	0.26093	0.065000	0.16274	1.569000	0.36428	1.257000	0.44085	0.561000	0.74099	CGA		0.468	ANKRD22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049262.1		NM_144590	
APLP1	333	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36362618	36362618	+	Silent	SNP	G	G	A			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr19:36362618G>A	ENST00000221891.4	+	5	834	c.642G>A	c.(640-642)ggG>ggA	p.G214G	NPHS1_ENST00000591817.1_5'Flank|APLP1_ENST00000586861.1_Silent_p.G208G|APLP1_ENST00000537454.2_Silent_p.G175G	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	214					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)	p.G214G(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCCTCCAGGGACCCCCGACC	0.647																																																	1	Substitution - coding silent(1)	kidney(1)											86.0	78.0	81.0					19																	36362618		2203	4300	6503	SO:0001819	synonymous_variant	333			U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.642G>A	19.37:g.36362618G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O00113|Q96A92	Silent	SNP	ENST00000221891.4	37	CCDS32997.1																																																																																				0.647	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1		NM_001024807	
BLM	641	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	91304206	91304206	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr15:91304206A>C	ENST00000355112.3	+	7	1721	c.1603A>C	c.(1603-1605)Aaa>Caa	p.K535Q	BLM_ENST00000560509.1_Missense_Mutation_p.K535Q	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	535	Necessary for interaction with SPIDR.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)	p.K535Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AGATCAGAATAAACATACTGC	0.358			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																														yes	Rec		Bloom Syndrome	15	15q26.1	641	Bloom Syndrome		"""L, E"""	1	Substitution - Missense(1)	kidney(1)											61.0	62.0	62.0					15																	91304206		2198	4298	6496	SO:0001583	missense	641	Familial Cancer Database		U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.1603A>C	15.37:g.91304206A>C	ENSP00000347232:p.Lys535Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	A	18.26	3.583656	0.65992	.	.	ENSG00000197299	ENST00000355112;ENST00000536925	T	0.48522	0.81	5.72	5.72	0.89469	.	0.323146	0.32518	N	0.005999	T	0.44329	0.1288	L	0.34521	1.04	0.34587	D	0.715088	P;P;P	0.52316	0.911;0.952;0.911	B;P;B	0.49140	0.311;0.601;0.311	T	0.55679	-0.8103	10	0.30854	T	0.27	-13.1141	12.377	0.55285	1.0:0.0:0.0:0.0	.	535;160;535	B2RAN0;B7ZKN7;P54132	.;.;BLM_HUMAN	Q	535;188	ENSP00000347232:K535Q	ENSP00000347232:K535Q	K	+	1	0	BLM	89105210	0.389000	0.25205	0.052000	0.19188	0.876000	0.50452	2.901000	0.48695	2.172000	0.68678	0.482000	0.46254	AAA		0.358	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			
MYRF	745	broad.mit.edu;ucsc.edu	37	11	61543864	61543864	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr11:61543864A>G	ENST00000278836.5	+	10	1555	c.1459A>G	c.(1459-1461)Aac>Gac	p.N487D	MYRF_ENST00000265460.5_Missense_Mutation_p.N478D|MYRF_ENST00000389602.4_5'Flank|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000327797.1_Missense_Mutation_p.N112D	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	487					central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N478D(1)									GACCACCGCTAACAACATGCG	0.647											OREG0021012	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											25.0	26.0	26.0					11																	61543864		2202	4299	6501	SO:0001583	missense	0				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.1459A>G	11.37:g.61543864A>G	ENSP00000278836:p.Asn487Asp	Somatic	1054	WXS	Illumina GAIIx	Phase_I	O43582|Q9P1Q6	Missense_Mutation	SNP	ENST00000278836.5	37	CCDS44622.1	.	.	.	.	.	.	.	.	.	.	A	29.4	5.003684	0.93287	.	.	ENSG00000124920	ENST00000278836;ENST00000265460;ENST00000327797	T;T;T	0.80909	-1.43;-1.36;-1.32	4.57	4.57	0.56435	NDT80 DNA-binding domain (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.91825	0.7413	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	D	0.93889	0.7178	10	0.87932	D	0	-21.4328	14.2358	0.65925	1.0:0.0:0.0:0.0	.	478;487	Q9Y2G1-2;Q9Y2G1	.;MRF_HUMAN	D	487;478;112	ENSP00000278836:N487D;ENSP00000265460:N478D;ENSP00000333261:N112D	ENSP00000265460:N478D	N	+	1	0	C11orf9	61300440	1.000000	0.71417	0.986000	0.45419	0.950000	0.60333	8.906000	0.92626	1.838000	0.53458	0.374000	0.22700	AAC		0.647	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2		NM_013279	
LURAP1L	286343	hgsc.bcm.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	-	GGCGGCGGC	rs3833707|rs139315731		TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr9:12775861_12775862insGGCGGCGGC	ENST00000319264.3	+	1	842_843	c.147_148insGGCGGCGGC	c.(148-150)ggc>GGCGGCGGCggc	p.50_50G>GGGG	LURAP1L_ENST00000489107.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	53	Gly-rich.							p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688																																																	3	Insertion - In frame(2)|Deletion - In frame(1)	large_intestine(1)|prostate(1)|central_nervous_system(1)																																								SO:0001652	inframe_insertion	0			AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"""similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"""		"""chromosome 9 open reading frame 150"""	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.157_165dupGGCGGCGGC	9.37:g.12775862_12775870dupGGCGGCGGC	ENSP00000321026:p.GlyGlyGly53dup	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VZX7|Q8N923|Q8NCG2	In_Frame_Ins	INS	ENST00000319264.3	37	CCDS6473.1																																																																																				0.688	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051730.1		NM_203403	
CD96	10225	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	111343188	111343188	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr3:111343188T>A	ENST00000283285.5	+	11	1437	c.1306T>A	c.(1306-1308)Tcc>Acc	p.S436T	CD96_ENST00000352690.4_Missense_Mutation_p.S420T	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	436	Pro/Ser/Thr-rich.				cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.S436T(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AGCCAGCAATTCCAGTATGAC	0.398									Opitz Trigonocephaly syndrome																																								1	Substitution - Missense(1)	kidney(1)											101.0	100.0	101.0					3																	111343188		2203	4299	6502	SO:0001583	missense	10225	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16892	protein-coding gene	gene with protein product		606037	"""CD96 antigen"""			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.1306T>A	3.37:g.111343188T>A	ENSP00000283285:p.Ser436Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JPB3	Missense_Mutation	SNP	ENST00000283285.5	37	CCDS2959.1	.	.	.	.	.	.	.	.	.	.	T	7.638	0.680318	0.14907	.	.	ENSG00000153283	ENST00000352690;ENST00000283285	T;T	0.66638	-0.21;-0.22	4.19	2.99	0.34606	.	0.506646	0.20873	N	0.084131	T	0.50411	0.1614	L	0.29908	0.895	0.19945	N	0.99994	P;P;P	0.40731	0.608;0.728;0.608	B;B;B	0.39339	0.156;0.297;0.156	T	0.35847	-0.9772	10	0.33940	T	0.23	-1.451	7.7096	0.28669	0.0:0.0:0.2145:0.7855	.	420;420;436	E9PEJ1;P40200-2;P40200	.;.;TACT_HUMAN	T	420;436	ENSP00000342040:S420T;ENSP00000283285:S436T	ENSP00000283285:S436T	S	+	1	0	CD96	112825878	0.944000	0.32072	0.158000	0.22627	0.017000	0.09413	1.636000	0.37144	0.916000	0.36871	0.460000	0.39030	TCC		0.398	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2			
CLDN4	1364	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	73245666	73245666	+	Silent	SNP	C	C	T			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr7:73245666C>T	ENST00000435050.1	+	2	2815	c.135C>T	c.(133-135)acC>acT	p.T45T	CLDN4_ENST00000431918.1_Silent_p.T45T|CLDN4_ENST00000340958.2_Silent_p.T45T			O14493	CLD4_HUMAN	claudin 4	45	Interaction with EPHA2.				calcium-independent cell-cell adhesion (GO:0016338)|establishment of skin barrier (GO:0061436)|female pregnancy (GO:0007565)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basal plasma membrane (GO:0009925)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)	p.T45T(1)		kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				CCTCGCAGACCATCTGGGAGG	0.657																																																	1	Substitution - coding silent(1)	kidney(1)											81.0	66.0	71.0					7																	73245666		2203	4300	6503	SO:0001819	synonymous_variant	1364			AB000712	CCDS5560.1	7q11.23	2008-07-18			ENSG00000189143	ENSG00000189143		"""Claudins"""	2046	protein-coding gene	gene with protein product	"""Clostridium perfringens enterotoxin receptor 1"", ""Williams-Beuren syndrome chromosomal region 8 protein"""	602909		CPETR, CPETR1		9334247, 9892664	Standard	NM_001305		Approved	CPE-R, WBSCR8, hCPE-R	uc003tzi.4	O14493	OTTHUMG00000023425	ENST00000435050.1:c.135C>T	7.37:g.73245666C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000435050.1	37	CCDS5560.1																																																																																				0.657	CLDN4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348030.1		NM_001305	
DAGLA	747	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	61511889	61511889	+	Silent	SNP	C	C	T			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr11:61511889C>T	ENST00000257215.5	+	20	3173	c.3057C>T	c.(3055-3057)atC>atT	p.I1019I	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	1019					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.I1019I(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTGACAAGATCCGGACTTCTA	0.662																																																	1	Substitution - coding silent(1)	kidney(1)											33.0	36.0	35.0					11																	61511889		2202	4297	6499	SO:0001819	synonymous_variant	747			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.3057C>T	11.37:g.61511889C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A7E233|Q6WQJ0	Silent	SNP	ENST00000257215.5	37	CCDS31578.1																																																																																				0.662	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1		NM_006133	
DIO1	1733	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	54370442	54370442	+	Silent	SNP	A	A	G			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr1:54370442A>G	ENST00000361921.3	+	2	465	c.441A>G	c.(439-441)gcA>gcG	p.A147A	DIO1_ENST00000532493.1_Intron|DIO1_ENST00000525202.1_Silent_p.A83A|DIO1_ENST00000322679.6_Silent_p.A147A|DIO1_ENST00000524406.1_Silent_p.A18A|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000388876.3_Intron	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	147					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)	p.A147A(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						GTTCCATAGCAGATTTTCTTG	0.398																																																	1	Substitution - coding silent(1)	kidney(1)											199.0	178.0	185.0					1																	54370442		1894	4128	6022	SO:0001819	synonymous_variant	1733				CCDS30722.1, CCDS41339.1, CCDS41340.1, CCDS53320.1	1p33-p32	2012-03-01			ENSG00000211452	ENSG00000211452	1.97.1.10		2883	protein-coding gene	gene with protein product		147892		TXDI1		8964838	Standard	NM_000792		Approved		uc001cwb.3	P49895	OTTHUMG00000008435	ENST00000361921.3:c.441A>G	1.37:g.54370442A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q1RN02|Q3KNP8|Q6Q4C1|Q6Q4C2|Q6Q4C3|Q6Q4C4|Q6Q4C5|Q6Q4C6|Q6Q4C7|Q6Q4C9|Q8WWC6	Silent	SNP	ENST00000361921.3	37	CCDS41339.1																																																																																				0.398	DIO1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000023247.3			
DNAH10	196385	broad.mit.edu;ucsc.edu	37	12	124383326	124383326	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr12:124383326C>A	ENST00000409039.3	+	55	9276	c.9251C>A	c.(9250-9252)gCc>gAc	p.A3084D		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3084	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A3084D(1)|p.A1676D(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCCTGCGAGGCCTTGCTGGAG	0.642																																																	2	Substitution - Missense(2)	kidney(2)											22.0	27.0	25.0					12																	124383326		2016	4175	6191	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.9251C>A	12.37:g.124383326C>A	ENSP00000386770:p.Ala3084Asp	Somatic		WXS	Illumina GAIIx	Phase_I	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689224	0.29962	.	.	ENSG00000197653	ENST00000409039	T	0.74106	-0.81	4.54	4.54	0.55810	Dynein heavy chain, coiled coil stalk (1);	0.428123	0.25316	N	0.031551	T	0.68183	0.2973	L	0.45581	1.43	0.48341	D	0.999638	B	0.21606	0.058	B	0.24269	0.052	T	0.63550	-0.6612	10	0.14252	T	0.57	.	17.4778	0.87664	0.0:1.0:0.0:0.0	.	3084	Q8IVF4	DYH10_HUMAN	D	3084	ENSP00000386770:A3084D	ENSP00000386770:A3084D	A	+	2	0	DNAH10	122949279	0.995000	0.38212	0.998000	0.56505	0.327000	0.28475	3.125000	0.50469	2.350000	0.79820	0.462000	0.41574	GCC		0.642	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			
GRN	2896	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42426617	42426617	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr17:42426617G>T	ENST00000053867.3	+	2	147	c.85G>T	c.(85-87)Gcc>Tcc	p.A29S	GRN_ENST00000589265.1_Missense_Mutation_p.A29S	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	29					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)	p.A29S(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CTGCCCTGTGGCCTGCTGCCT	0.647																																																	1	Substitution - Missense(1)	kidney(1)											69.0	56.0	61.0					17																	42426617		2203	4300	6503	SO:0001583	missense	2896			M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"""progranulin"""	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.85G>T	17.37:g.42426617G>T	ENSP00000053867:p.Ala29Ser	Somatic		WXS	Illumina HiSeq	Phase_I	D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP	ENST00000053867.3	37	CCDS11483.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925240	0.73213	.	.	ENSG00000030582	ENST00000053867;ENST00000357351	T	0.79653	-1.29	4.68	3.69	0.42338	.	0.121727	0.37393	N	0.002108	T	0.75496	0.3857	L	0.48642	1.525	0.27110	N	0.962398	P;D	0.54207	0.869;0.965	P;B	0.48334	0.574;0.437	T	0.66139	-0.5998	10	0.22109	T	0.4	-27.7891	9.2959	0.37815	0.1068:0.0:0.8932:0.0	.	29;29	B4E1G5;P28799	.;GRN_HUMAN	S	29	ENSP00000053867:A29S	ENSP00000053867:A29S	A	+	1	0	GRN	39782143	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.530000	0.45641	2.319000	0.78375	0.457000	0.33378	GCC		0.647	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457766.1		NM_002087	
GTF2F2	2963	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	45841372	45841372	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr13:45841372A>C	ENST00000340473.6	+	7	632	c.491A>C	c.(490-492)gAa>gCa	p.E164A	GTF2F2_ENST00000494087.1_3'UTR	NM_004128.2	NP_004119.1	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2, 30kDa	164					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)	p.E164A(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		ATATAGATCGAATATGAAAGG	0.333																																																	1	Substitution - Missense(1)	kidney(1)											81.0	83.0	83.0					13																	45841372		2203	4300	6503	SO:0001583	missense	2963			X16901	CCDS9395.1	13q14	2012-01-23	2002-08-29		ENSG00000188342	ENSG00000188342		"""General transcription factors"""	4653	protein-coding gene	gene with protein product		189969	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			8162052	Standard	NM_004128		Approved	TFIIF, BTF4, RAP30	uc001uzw.3	P13984	OTTHUMG00000016849	ENST00000340473.6:c.491A>C	13.37:g.45841372A>C	ENSP00000340823:p.Glu164Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A6NNS5|Q5W0H3	Missense_Mutation	SNP	ENST00000340473.6	37	CCDS9395.1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.241840	0.39598	.	.	ENSG00000188342	ENST00000340473	.	.	.	5.14	5.14	0.70334	.	0.112278	0.64402	D	0.000011	T	0.49541	0.1563	L	0.33624	1.015	0.58432	D	0.999993	B	0.02656	0.0	B	0.09377	0.004	T	0.43081	-0.9413	9	0.15952	T	0.53	-19.8531	14.1498	0.65375	1.0:0.0:0.0:0.0	.	164	P13984	T2FB_HUMAN	A	164	.	ENSP00000340823:E164A	E	+	2	0	GTF2F2	44739372	1.000000	0.71417	1.000000	0.80357	0.450000	0.32258	8.909000	0.92647	1.933000	0.56026	0.383000	0.25322	GAA		0.333	GTF2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044767.2		NM_004128	
ITSN2	50618	hgsc.bcm.edu;ucsc.edu	37	2	24435521	24435521	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr2:24435521delT	ENST00000355123.4	-	33	4530	c.4087delA	c.(4087-4089)agtfs	p.S1363fs	ITSN2_ENST00000361999.3_Frame_Shift_Del_p.S1336fs|AC009228.1_ENST00000413989.1_RNA|AC009228.1_ENST00000413254.1_RNA|AC009228.1_ENST00000430105.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1363	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACACTCACACTTCTGATGAGC	0.607																																																	0													120.0	116.0	117.0					2																	24435521		2203	4300	6503	SO:0001589	frameshift_variant	50618			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.4087delA	2.37:g.24435521delT	ENSP00000347244:p.Ser1363fs	Somatic		WXS	Illumina HiSeq	Phase_I	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Frame_Shift_Del	DEL	ENST00000355123.4	37	CCDS1710.2																																																																																				0.607	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2		NM_006277	
KIAA2022	340533	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	73962035	73962035	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chrX:73962035G>T	ENST00000055682.6	-	3	2968	c.2357C>A	c.(2356-2358)aCt>aAt	p.T786N		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	786					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.T786N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGGTAGAAAAGTGGAACTCTT	0.403																																																	1	Substitution - Missense(1)	kidney(1)											99.0	92.0	94.0					X																	73962035		2203	4300	6503	SO:0001583	missense	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.2357C>A	X.37:g.73962035G>T	ENSP00000055682:p.Thr786Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039965	0.35989	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.32515	1.45;1.45	5.73	3.61	0.41365	.	0.455607	0.21923	N	0.067133	T	0.20373	0.0490	N	0.22421	0.69	0.28633	N	0.907559	B	0.06786	0.001	B	0.06405	0.002	T	0.11717	-1.0576	10	0.42905	T	0.14	-1.4487	10.6595	0.45694	0.0812:0.0:0.7779:0.1409	.	786	Q5QGS0	K2022_HUMAN	N	786	ENSP00000362567:T786N;ENSP00000055682:T786N	ENSP00000055682:T786N	T	-	2	0	KIAA2022	73878760	1.000000	0.71417	0.667000	0.29798	0.976000	0.68499	5.283000	0.65621	1.137000	0.42214	0.600000	0.82982	ACT		0.403	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2		NM_001008537	
LATS1	9113	broad.mit.edu;ucsc.edu	37	6	150023180	150023180	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr6:150023180C>T	ENST00000543571.1	-	2	630	c.83G>A	c.(82-84)cGg>cAg	p.R28Q	LATS1_ENST00000392273.3_Missense_Mutation_p.R28Q|LATS1_ENST00000542747.1_5'Flank|LATS1_ENST00000253339.5_Missense_Mutation_p.R28Q	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.R28Q(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TAACATTTGCCGGCTACTGAC	0.393																																																	2	Substitution - Missense(2)	kidney(2)											133.0	132.0	133.0					6																	150023180		2203	4300	6503	SO:0001583	missense	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.83G>A	6.37:g.150023180C>T	ENSP00000437550:p.Arg28Gln	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000543571.1	37	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241688	0.39598	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	T;T;T	0.29655	1.56;1.56;1.56	5.33	5.33	0.75918	.	0.131843	0.33438	N	0.004905	T	0.07548	0.0190	N	0.13098	0.295	0.30261	N	0.793184	B;B	0.23891	0.093;0.002	B;B	0.12837	0.008;0.001	T	0.13415	-1.0510	9	.	.	.	.	12.9149	0.58200	0.0:0.916:0.0:0.084	.	28;28	O95835-2;O95835	.;LATS1_HUMAN	Q	28	ENSP00000437550:R28Q;ENSP00000253339:R28Q;ENSP00000444678:R28Q	.	R	-	2	0	LATS1	150064873	1.000000	0.71417	0.982000	0.44146	0.688000	0.40055	4.518000	0.60510	2.774000	0.95407	0.491000	0.48974	CGG		0.393	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4		NM_004690	
LPIN1	23175	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	11911638	11911638	+	Missense_Mutation	SNP	C	C	A	rs145629147	byFrequency	TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr2:11911638C>A	ENST00000256720.2	+	4	522	c.429C>A	c.(427-429)agC>agA	p.S143R	LPIN1_ENST00000396099.1_Missense_Mutation_p.S149R|LPIN1_ENST00000396098.1_Missense_Mutation_p.S149R|LPIN1_ENST00000425416.2_Missense_Mutation_p.S149R|LPIN1_ENST00000449576.2_Missense_Mutation_p.S192R	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	143					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.S143R(1)|p.S143S(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TCGCTCCCAGCGAGACGCCGT	0.537																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|kidney(1)											54.0	52.0	53.0					2																	11911638		2203	4300	6503	SO:0001583	missense	23175			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.429C>A	2.37:g.11911638C>A	ENSP00000256720:p.Ser143Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	c	6.356	0.433695	0.12045	.	.	ENSG00000134324	ENST00000449576;ENST00000396098;ENST00000396099;ENST00000425416;ENST00000256720	T;D;T;T;T	0.88509	-1.39;-2.39;-1.38;-1.4;-1.4	5.8	-11.6	0.00059	.	0.318920	0.39544	N	0.001335	T	0.75781	0.3896	L	0.36672	1.1	0.21020	N	0.999806	P;B;P	0.35272	0.485;0.282;0.493	B;B;B	0.36766	0.189;0.109;0.232	T	0.65014	-0.6271	10	0.11182	T	0.66	-1.4683	11.6954	0.51540	0.0656:0.1749:0.0655:0.6941	.	192;143;149	F5GY24;Q14693;A8MU38	.;LPIN1_HUMAN;.	R	192;149;149;149;143	ENSP00000397908:S192R;ENSP00000379405:S149R;ENSP00000379406:S149R;ENSP00000401522:S149R;ENSP00000256720:S143R	ENSP00000256720:S143R	S	+	3	2	LPIN1	11829089	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.250000	0.01187	-3.730000	0.00114	-2.899000	0.00093	AGC		0.537	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3		NM_145693	
DHRS11	79154	hgsc.bcm.edu;ucsc.edu	37	17	34958701	34958701	+	IGR	DEL	G	G	-			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr17:34958701delG	ENST00000251312.5	+	0	1598				MRM1_ENST00000585770.1_Intron|MRM1_ENST00000250156.7_Frame_Shift_Del_p.Q154fs	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(4)	5						ATGGGATCCAGGATCCCCGGA	0.652																																																	0													17.0	17.0	17.0					17																	34958701		2104	4083	6187	SO:0001628	intergenic_variant	79922				CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	28639	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 24C, member 1"""					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442		17.37:g.34958701delG		Somatic		WXS	Illumina HiSeq	Phase_I	B2RDZ3|Q9BUC7|Q9H674	Frame_Shift_Del	DEL	ENST00000251312.5	37	CCDS11315.2																																																																																				0.652	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2		NM_024308	
MYO3A	53904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	26313006	26313006	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr10:26313006T>G	ENST00000265944.5	+	9	953	c.787T>G	c.(787-789)Ttc>Gtc	p.F263V	MYO3A_ENST00000543632.1_Missense_Mutation_p.F263V	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.F263V(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATTCAATGACTTCATAAGCAA	0.368																																																	1	Substitution - Missense(1)	kidney(1)											119.0	120.0	120.0					10																	26313006		2203	4300	6503	SO:0001583	missense	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.787T>G	10.37:g.26313006T>G	ENSP00000265944:p.Phe263Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.891031	0.91889	.	.	ENSG00000095777	ENST00000265944;ENST00000543632	T;T	0.16073	2.37;2.37	6.02	6.02	0.97574	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.042837	0.85682	D	0.000000	T	0.38348	0.1037	L	0.52011	1.625	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.996;0.997;0.994	T	0.08106	-1.0738	10	0.87932	D	0	.	16.542	0.84395	0.0:0.0:0.0:1.0	.	263;263;263	F5H0U9;Q0VD65;Q8NEV4	.;.;MYO3A_HUMAN	V	263	ENSP00000265944:F263V;ENSP00000445909:F263V	ENSP00000265944:F263V	F	+	1	0	MYO3A	26353012	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.187000	0.77730	2.304000	0.77564	0.528000	0.53228	TTC		0.368	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1		NM_017433	
KAT6A	7994	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	41804117	41804117	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr8:41804117A>G	ENST00000396930.3	-	13	2531	c.1988T>C	c.(1987-1989)aTc>aCc	p.I663T	KAT6A_ENST00000485568.1_Missense_Mutation_p.I663T|KAT6A_ENST00000406337.1_Missense_Mutation_p.I663T|KAT6A_ENST00000265713.2_Missense_Mutation_p.I663T	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	663	Catalytic.|Interaction with PML.|Interaction with RUNX1-1.|MYST-type HAT.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.I663T(1)									ACTGAAATCGATGAGAAACCT	0.423																																																	1	Substitution - Missense(1)	kidney(1)											139.0	124.0	129.0					8																	41804117		2203	4300	6503	SO:0001583	missense	0			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.1988T>C	8.37:g.41804117A>G	ENSP00000380136:p.Ile663Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.399510	0.42512	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000418721;ENST00000485568	T;T;T;D	0.91351	-0.82;-0.82;-0.82;-2.83	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.96337	0.8805	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	1.0;1.0	D	0.97142	0.9825	10	0.87932	D	0	-20.4327	16.2268	0.82300	1.0:0.0:0.0:0.0	.	663;663	A5PLL3;Q92794	.;KAT6A_HUMAN	T	663;663;663;243;663	ENSP00000265713:I663T;ENSP00000385888:I663T;ENSP00000380136:I663T;ENSP00000430606:I663T	ENSP00000265713:I663T	I	-	2	0	KAT6A	41923274	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.235000	0.73313	0.528000	0.53228	ATC		0.423	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1		NM_006766	
NCAPD2	9918	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6619242	6619242	+	Splice_Site	SNP	C	C	A			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr12:6619242C>A	ENST00000315579.5	+	4	1004	c.205C>A	c.(205-207)Cac>Aac	p.H69N	NCAPD2_ENST00000545962.1_Intron|SCARNA10_ENST00000459255.1_RNA	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	69	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)	p.H69N(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CCCTCATAGTCACTTTCGAAG	0.448																																																	1	Substitution - Missense(1)	kidney(1)											86.0	78.0	80.0					12																	6619242		2203	4300	6503	SO:0001630	splice_region_variant	9918			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.204-1C>A	12.37:g.6619242C>A		Somatic		WXS	Illumina HiSeq	Phase_I	D3DUR4|Q8N6U3	Missense_Mutation	SNP	ENST00000315579.5	37	CCDS8548.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.486829	0.44249	.	.	ENSG00000010292	ENST00000315579;ENST00000539714	T;T	0.45668	2.49;0.89	5.32	5.32	0.75619	.	0.042989	0.85682	D	0.000000	T	0.41396	0.1157	L	0.61036	1.89	0.80722	D	1	B	0.30686	0.29	B	0.32624	0.149	T	0.22800	-1.0206	10	0.25751	T	0.34	-22.4334	13.0674	0.59041	0.1603:0.8397:0.0:0.0	.	69	Q15021	CND1_HUMAN	N	69	ENSP00000325017:H69N;ENSP00000444377:H69N	ENSP00000325017:H69N	H	+	1	0	NCAPD2	6489503	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.397000	0.44477	2.492000	0.84095	0.555000	0.69702	CAC		0.448	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1		NM_014865	Missense_Mutation
NCAPH2	29781	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	50960439	50960439	+	Missense_Mutation	SNP	G	G	A	rs117383090		TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr22:50960439G>A	ENST00000420993.2	+	13	1255	c.1133G>A	c.(1132-1134)cGg>cAg	p.R378Q	NCAPH2_ENST00000395701.3_Missense_Mutation_p.R378Q|NCAPH2_ENST00000520297.1_3'UTR|NCAPH2_ENST00000299821.11_Missense_Mutation_p.R378Q|CTA-384D8.36_ENST00000608319.1_RNA	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	378					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)		p.R378Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		GACAGCAGGCGGCTTCGGCGA	0.587													G|||	1	0.000199681	0.0	0.0	5008	,	,		20224	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											99.0	101.0	100.0					22																	50960439		2203	4300	6503	SO:0001583	missense	29781			BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"""kleisin beta"", ""CAP-H2 subunit of the condensin II complex"""	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.1133G>A	22.37:g.50960439G>A	ENSP00000410088:p.Arg378Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	ENST00000420993.2	37	CCDS14094.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.59	3.657678	0.67586	.	.	ENSG00000025770	ENST00000420993;ENST00000395701;ENST00000299821	.	.	.	4.83	3.74	0.42951	.	0.317790	0.33346	N	0.005008	T	0.54062	0.1835	M	0.72118	2.19	0.09310	N	1	D;D;D;D	0.89917	0.991;0.999;1.0;0.997	P;P;D;P	0.83275	0.62;0.742;0.996;0.832	T	0.45848	-0.9233	9	0.24483	T	0.36	-27.7512	4.3747	0.11265	0.2432:0.0:0.7568:0.0	.	378;378;356;378	G3XAG4;Q6IBW4-4;Q6IBW4-2;Q6IBW4	.;.;.;CNDH2_HUMAN	Q	378	.	ENSP00000299821:R378Q	R	+	2	0	NCAPH2	49307305	0.699000	0.27786	0.123000	0.21794	0.002000	0.02628	1.545000	0.36169	2.240000	0.73641	0.591000	0.81541	CGG		0.587	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1		NM_152299	
NF1	4763	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	29687577	29687577	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr17:29687577G>T	ENST00000358273.4	+	57	8616	c.8233G>T	c.(8233-8235)Gga>Tga	p.G2745*	NF1_ENST00000417592.2_3'UTR|NF1_ENST00000444181.2_Nonsense_Mutation_p.G538*|NF1_ENST00000356175.3_Nonsense_Mutation_p.G2724*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2745			G -> R (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.G2745*(2)|p.G2745R(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTACCTGCCTGGAATTGATGA	0.423			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	14	Whole gene deletion(8)|Unknown(3)|Substitution - Nonsense(2)|Substitution - Missense(1)	soft_tissue(7)|autonomic_ganglia(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)											176.0	167.0	170.0					17																	29687577		2203	4300	6503	SO:0001587	stop_gained	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.8233G>T	17.37:g.29687577G>T	ENSP00000351015:p.Gly2745*	Somatic		WXS	Illumina HiSeq	Phase_I	O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	35	5.444835	0.96187	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	.	.	.	5.27	5.27	0.74061	.	0.125344	0.52532	D	0.000070	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.8837	0.92367	0.0:0.0:1.0:0.0	.	.	.	.	X	2745;2724;2390;538	.	ENSP00000348498:G2724X	G	+	1	0	NF1	26711703	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.326000	0.72905	2.465000	0.83290	0.655000	0.94253	GGA		0.423	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2		NM_000267	
NUP210L	91181	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	154112289	154112289	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr1:154112289G>A	ENST00000368559.3	-	5	777	c.706C>T	c.(706-708)Cca>Tca	p.P236S	NUP210L_ENST00000271854.3_Missense_Mutation_p.P236S	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	236					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.P236S(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTATAGAATGGTTCATGAATT	0.353																																																	1	Substitution - Missense(1)	kidney(1)											228.0	224.0	226.0					1																	154112289		1839	4092	5931	SO:0001583	missense	91181			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.706C>T	1.37:g.154112289G>A	ENSP00000357547:p.Pro236Ser	Somatic		WXS	Illumina HiSeq	Phase_I	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	G	8.244	0.807500	0.16467	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.06449	3.55;3.3	5.11	2.14	0.27477	.	0.574451	0.16915	N	0.194359	T	0.01627	0.0052	L	0.36672	1.1	0.26977	N	0.965452	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.45775	-0.9238	10	0.36615	T	0.2	-12.8997	6.677	0.23100	0.3231:0.0:0.6769:0.0	.	236;236	E7EP56;Q5VU65	.;P210L_HUMAN	S	236	ENSP00000357547:P236S;ENSP00000271854:P236S	ENSP00000271854:P236S	P	-	1	0	NUP210L	152378913	0.456000	0.25744	0.957000	0.39632	0.981000	0.71138	0.323000	0.19593	0.279000	0.22186	0.561000	0.74099	CCA		0.353	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3		NM_207308	
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52643654	52643654	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr3:52643654delC	ENST00000296302.7	-	16	2243	c.2242delG	c.(2242-2244)gatfs	p.D748fs	PBRM1_ENST00000409057.1_Frame_Shift_Del_p.D748fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.D748fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.D716fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.D763fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.D748fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.D748fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.D763fs			Q86U86	PB1_HUMAN	polybromo 1	748					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.K747fs*23(2)|p.K715fs*23(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ACAAGAGCATCTTTGTAGATC	0.433			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	3	Deletion - Frameshift(3)	kidney(3)											111.0	109.0	110.0					3																	52643654		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2242delG	3.37:g.52643654delC	ENSP00000296302:p.Asp748fs	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.433	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PRUNE2	158471	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	79461509	79461509	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr9:79461509A>G	ENST00000376718.3	-	4	553	c.430T>C	c.(430-432)Tcc>Ccc	p.S144P	PRUNE2_ENST00000376713.3_Missense_Mutation_p.S144P|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	144					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.S144P(2)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGAGAAGAGGAAGACTCTCGG	0.478																																																	2	Substitution - Missense(2)	kidney(2)											108.0	105.0	106.0					9																	79461509		2203	4300	6503	SO:0001583	missense	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.430T>C	9.37:g.79461509A>G	ENSP00000365908:p.Ser144Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.041782	0.75732	.	.	ENSG00000106772	ENST00000376718;ENST00000422033;ENST00000376713	T;T	0.15718	2.4;2.4	5.81	5.81	0.92471	.	0.061984	0.64402	D	0.000006	T	0.36026	0.0952	L	0.60455	1.87	0.80722	D	1	D;P	0.89917	1.0;0.93	D;P	0.69307	0.963;0.543	T	0.08452	-1.0721	10	0.87932	D	0	.	11.8635	0.52480	0.8693:0.0:0.0:0.1307	.	144;144	Q8WUY3;D6RTK6	PRUN2_HUMAN;.	P	144;143;144	ENSP00000365908:S144P;ENSP00000365903:S144P	ENSP00000365903:S144P	S	-	1	0	PRUNE2	78651329	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.860000	0.62961	2.217000	0.71921	0.533000	0.62120	TCC		0.478	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2		NM_138818	
RAB24	53917	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	176728945	176728945	+	Silent	SNP	A	A	G			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr5:176728945A>G	ENST00000303251.6	-	7	947	c.528T>C	c.(526-528)gcT>gcC	p.A176A	RAB24_ENST00000393611.2_Silent_p.A176A|PRELID1_ENST00000303204.4_5'Flank|PRELID1_ENST00000503216.1_5'Flank|RAB24_ENST00000303270.6_Silent_p.A147A	NM_001031677.2	NP_001026847.1	Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family	176					autophagy (GO:0006914)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	autophagic vacuole (GO:0005776)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)	p.A176A(1)				all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTGGAAGGCAGCCACACTGA	0.547																																																	1	Substitution - coding silent(1)	kidney(1)											118.0	117.0	117.0					5																	176728945		2203	4300	6503	SO:0001819	synonymous_variant	53917			AF087904	CCDS34300.1	5q35.3	2009-10-06			ENSG00000169228	ENSG00000169228		"""RAB, member RAS oncogene"""	9765	protein-coding gene	gene with protein product		612415					Standard	NM_001031677		Approved		uc003mfw.3	Q969Q5	OTTHUMG00000130849	ENST00000303251.6:c.528T>C	5.37:g.176728945A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z4Z7	Silent	SNP	ENST00000303251.6	37	CCDS34300.1																																																																																				0.547	RAB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253416.1		NM_130781	
RPS6KA1	6195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	26897964	26897964	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr1:26897964A>T	ENST00000374168.2	+	18	1769	c.1615A>T	c.(1615-1617)Agc>Tgc	p.S539C	RPS6KA1_ENST00000374166.4_Missense_Mutation_p.S528C|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.S447C|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.S447C|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.S548C|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.S523C	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	539	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.S548C(1)		lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CCTGAAGCCCAGCAACATCCT	0.597																																																	1	Substitution - Missense(1)	kidney(1)											75.0	68.0	70.0					1																	26897964		2203	4300	6503	SO:0001583	missense	6195			BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1615A>T	1.37:g.26897964A>T	ENSP00000363283:p.Ser539Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	CCDS284.1	.	.	.	.	.	.	.	.	.	.	A	29.9	5.043520	0.93685	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000374164;ENST00000531382;ENST00000403732	T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;1.65	5.55	5.55	0.83447	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.55593	0.1930	L	0.39085	1.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.977;0.981;0.995	T	0.59096	-0.7518	10	0.87932	D	0	.	15.6863	0.77411	1.0:0.0:0.0:0.0	.	523;548;539	B7Z2K7;Q15418-2;Q15418	.;.;KS6A1_HUMAN	C	539;528;447;447;523;217;548;155	ENSP00000363283:S539C;ENSP00000363281:S528C;ENSP00000431651:S447C;ENSP00000363277:S447C;ENSP00000432281:S523C;ENSP00000435412:S548C;ENSP00000383967:S155C	ENSP00000363277:S447C	S	+	1	0	RPS6KA1	26770551	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.094000	0.63399	0.460000	0.39030	AGC		0.597	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1		NM_002953	
RABGGTB	5876	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	76255648	76255648	+	Silent	SNP	G	G	A			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr1:76255648G>A	ENST00000319942.3	+	4	392	c.321G>A	c.(319-321)ctG>ctA	p.L107L	RABGGTB_ENST00000496055.1_3'UTR|RABGGTB_ENST00000370826.3_Silent_p.L107L|SNORD45C_ENST00000383893.1_RNA|SNORD45B_ENST00000364617.1_RNA|SNORD45A_ENST00000384512.1_RNA|RABGGTB_ENST00000535300.1_5'UTR	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	107					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)	p.L107L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						TTCTTACGCTGTATGACAGTA	0.328																																																	1	Substitution - coding silent(1)	kidney(1)											152.0	152.0	152.0					1																	76255648		2203	4299	6502	SO:0001819	synonymous_variant	5876			U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.321G>A	1.37:g.76255648G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q92697	Silent	SNP	ENST00000319942.3	37	CCDS669.1																																																																																				0.328	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026972.1		NM_004582	
RTL1	388015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	101351021	101351021	+	Silent	SNP	C	C	T	rs536996041		TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr14:101351021C>T	ENST00000534062.1	-	1	163	c.105G>A	c.(103-105)gcG>gcA	p.A35A	MIR433_ENST00000384837.1_RNA|MIR136_ENST00000385207.1_RNA|MIR432_ENST00000606207.1_RNA|MIR127_ENST00000384876.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	35					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)		p.A35A(1)		breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TGCCCGACGTCGCCTCGGTGG	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		17591	0.001		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)											31.0	31.0	31.0					14																	101351021		1568	3582	5150	SO:0001819	synonymous_variant	388015				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.105G>A	14.37:g.101351021C>T		Somatic		WXS	Illumina HiSeq	Phase_I	E9PKS8	Silent	SNP	ENST00000534062.1	37	CCDS53910.1																																																																																				0.582	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1		NM_001134888	
SERINC1	57515	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	122768141	122768141	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr6:122768141G>C	ENST00000339697.4	-	9	1088	c.1004C>G	c.(1003-1005)aCt>aGt	p.T335S		NM_020755.2	NP_065806.1	Q9NRX5	SERC1_HUMAN	serine incorporator 1	335					L-serine transport (GO:0015825)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)	p.T335S(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		ATTGTTTGAAGTACGGATGCT	0.338																																																	1	Substitution - Missense(1)	kidney(1)											68.0	66.0	67.0					6																	122768141		2203	4300	6503	SO:0001583	missense	57515			AF087902	CCDS5125.1	6q22.32	2006-02-09	2005-10-14	2005-10-14	ENSG00000111897	ENSG00000111897			13464	protein-coding gene	gene with protein product		614548	"""tumor differentially expressed 2"""	TDE2		10637174	Standard	NM_020755		Approved	TMS-2, TDE1L, KIAA1253	uc003pyy.1	Q9NRX5	OTTHUMG00000015487	ENST00000339697.4:c.1004C>G	6.37:g.122768141G>C	ENSP00000342962:p.Thr335Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B3KY69|E1P565|O75655|Q7Z2F5|Q8TAG1|Q9NTH8|Q9ULG7	Missense_Mutation	SNP	ENST00000339697.4	37	CCDS5125.1	.	.	.	.	.	.	.	.	.	.	G	3.463	-0.109523	0.06924	.	.	ENSG00000111897	ENST00000339697;ENST00000368454	T;T	0.13778	2.56;2.56	5.4	5.4	0.78164	.	0.151032	0.56097	D	0.000023	T	0.03136	0.0092	N	0.10809	0.05	0.37810	D	0.928018	B	0.02656	0.0	B	0.20955	0.032	T	0.23583	-1.0184	10	0.06757	T	0.87	-22.3587	19.1687	0.93569	0.0:0.0:1.0:0.0	.	335	Q9NRX5	SERC1_HUMAN	S	335	ENSP00000342962:T335S;ENSP00000357439:T335S	ENSP00000342962:T335S	T	-	2	0	SERINC1	122809840	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.845000	0.69437	2.532000	0.85374	0.650000	0.86243	ACT		0.338	SERINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042031.2		NM_020755	
SF3B3	23450	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	70594436	70594436	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr16:70594436G>A	ENST00000302516.5	+	16	2286	c.2075G>A	c.(2074-2076)cGg>cAg	p.R692Q		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	692					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)	p.R692Q(1)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				ACTCGCACTCGGTACCTGGGG	0.537																																																	1	Substitution - Missense(1)	kidney(1)											142.0	121.0	128.0					16																	70594436		2198	4300	6498	SO:0001583	missense	23450			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.2075G>A	16.37:g.70594436G>A	ENSP00000305790:p.Arg692Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	G	37	6.202185	0.97371	.	.	ENSG00000189091	ENST00000302516	T	0.35605	1.3	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.66761	0.2822	M	0.89414	3.03	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	T	0.64360	-0.6426	10	0.30078	T	0.28	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	692	Q15393	SF3B3_HUMAN	Q	692	ENSP00000305790:R692Q	ENSP00000305790:R692Q	R	+	2	0	SF3B3	69151937	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.807000	0.99171	2.882000	0.98803	0.655000	0.94253	CGG		0.537	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1		NM_012426	
SLC5A7	60482	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	108627273	108627273	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr2:108627273G>A	ENST00000264047.2	+	9	1975	c.1699G>A	c.(1699-1701)Gat>Aat	p.D567N	SLC5A7_ENST00000540517.1_Missense_Mutation_p.D462N|SLC5A7_ENST00000409059.1_Missense_Mutation_p.D567N	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	567					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)	p.D567N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CCTTGATGTTGATTCCAGTCC	0.393																																																	1	Substitution - Missense(1)	kidney(1)											36.0	37.0	37.0					2																	108627273		2203	4297	6500	SO:0001583	missense	60482			AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1699G>A	2.37:g.108627273G>A	ENSP00000264047:p.Asp567Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.403486	0.42613	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.92545	-2.8;-3.06;-2.8	5.84	2.94	0.34122	.	0.507264	0.23616	N	0.046294	D	0.85902	0.5805	L	0.33485	1.01	0.24587	N	0.993842	B	0.02656	0.0	B	0.01281	0.0	T	0.78221	-0.2288	10	0.52906	T	0.07	-11.7136	9.7756	0.40616	0.133:0.1181:0.7489:0.0	.	567	Q9GZV3	SC5A7_HUMAN	N	567;462;567	ENSP00000387346:D567N;ENSP00000445351:D462N;ENSP00000264047:D567N	ENSP00000264047:D567N	D	+	1	0	SLC5A7	107993705	1.000000	0.71417	0.038000	0.18304	0.794000	0.44872	4.425000	0.59875	1.471000	0.48121	0.650000	0.86243	GAT		0.393	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1			
SLCO1B3	28234	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	21008017	21008017	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr12:21008017delT	ENST00000381545.3	+	4	359	c.140delT	c.(139-141)attfs	p.I47fs	SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.I47fs|SLCO1B7_ENST00000554957.1_Frame_Shift_Del_p.I47fs|LST3_ENST00000540229.1_Frame_Shift_Del_p.I47fs|LST3_ENST00000381541.3_Frame_Shift_Del_p.I47fs|SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.I47fs	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	47					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	GGTGGAATCATTATGAAAATT	0.318																																																	0													87.0	82.0	83.0					12																	21008017		2203	4299	6502	SO:0001589	frameshift_variant	28234				CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.140delT	12.37:g.21008017delT	ENSP00000370956:p.Ile47fs	Somatic		WXS	Illumina HiSeq	Phase_I	E7EMT8|Q5JAR4	Frame_Shift_Del	DEL	ENST00000381545.3	37	CCDS8684.1																																																																																				0.318	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1		NM_019844	
SMEK1	55671	broad.mit.edu;hgsc.bcm.edu	37	14	91975891	91975891	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr14:91975891C>T	ENST00000554943.1	-	1	216	c.101G>A	c.(100-102)cGg>cAg	p.R34Q	SMEK1_ENST00000555462.1_Missense_Mutation_p.R34Q|SMEK1_ENST00000337238.4_Missense_Mutation_p.R34Q|SMEK1_ENST00000428424.2_Missense_Mutation_p.R34Q|SMEK1_ENST00000554684.1_Missense_Mutation_p.R34Q			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	34	WH1.				positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)		p.R34Q(2)		NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GCCCTTCAGCCGCTCCACGTA	0.706																																																	2	Substitution - Missense(2)	kidney(2)											24.0	24.0	24.0					14																	91975891		2203	4300	6503	SO:0001583	missense	55671			AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.101G>A	14.37:g.91975891C>T	ENSP00000450883:p.Arg34Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	ENST00000554943.1	37		.	.	.	.	.	.	.	.	.	.	C	18.28	3.590043	0.66105	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390;ENST00000555029;ENST00000557018;ENST00000554511	T;T;T;T;T;D;D	0.98531	0.99;0.99;0.99;0.99;0.99;-4.98;-4.98	4.94	4.05	0.47172	Pleckstrin homology-type (1);	0.052589	0.64402	N	0.000001	D	0.94019	0.8084	N	0.16903	0.455	0.25330	N	0.989044	P;B;B	0.44044	0.825;0.226;0.334	B;B;B	0.40228	0.323;0.018;0.038	D	0.87919	0.2702	10	0.14656	T	0.56	-2.3366	13.1152	0.59295	0.0:0.9226:0.0:0.0774	.	34;34;34	Q6IN85-4;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	Q	34	ENSP00000450864:R34Q;ENSP00000337125:R34Q;ENSP00000450883:R34Q;ENSP00000452596:R34Q;ENSP00000452257:R34Q;ENSP00000450432:R34Q;ENSP00000451939:R34Q	ENSP00000337125:R34Q	R	-	2	0	SMEK1	91045644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.128000	0.77217	1.205000	0.43262	0.561000	0.74099	CGG		0.706	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1		NM_032560	
SMURF2	64750	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	62576936	62576936	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr17:62576936T>C	ENST00000262435.9	-	8	930	c.743A>G	c.(742-744)cAt>cGt	p.H248R	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	248					BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)	p.H248R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TGGAGGAGTATGTAAATGTGT	0.413																																																	1	Substitution - Missense(1)	kidney(1)											271.0	236.0	248.0					17																	62576936		2203	4300	6503	SO:0001583	missense	64750			AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.743A>G	17.37:g.62576936T>C	ENSP00000262435:p.His248Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q52LL1|Q9H260	Missense_Mutation	SNP	ENST00000262435.9	37	CCDS32707.1	.	.	.	.	.	.	.	.	.	.	T	14.49	2.551047	0.45383	.	.	ENSG00000108854	ENST00000262435	T	0.44881	0.91	5.72	5.72	0.89469	WW/Rsp5/WWP (1);	0.000000	0.85682	D	0.000000	T	0.47801	0.1465	L	0.36672	1.1	0.80722	D	1	P	0.49090	0.919	P	0.55260	0.772	T	0.27502	-1.0072	10	0.22109	T	0.4	.	15.9971	0.80260	0.0:0.0:0.0:1.0	.	248	Q9HAU4	SMUF2_HUMAN	R	248	ENSP00000262435:H248R	ENSP00000262435:H248R	H	-	2	0	SMURF2	60007398	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.649000	0.83500	2.175000	0.68902	0.528000	0.53228	CAT		0.413	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1		NM_022739	
STXBP2	6813	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	7703632	7703632	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr19:7703632C>T	ENST00000221283.5	+	2	89	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	CTD-3214H19.4_ENST00000595866.1_3'UTR|STXBP2_ENST00000414284.2_Missense_Mutation_p.R20W|CTD-3214H19.6_ENST00000601797.1_RNA|STXBP2_ENST00000441779.2_Missense_Mutation_p.R20W	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	20					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)	p.R20W(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CGGAGTTATTCGGAGTGTCAA	0.582																																																	1	Substitution - Missense(1)	kidney(1)											72.0	71.0	71.0					19																	7703632		2203	4300	6503	SO:0001583	missense	6813			U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.58C>T	19.37:g.7703632C>T	ENSP00000221283:p.Arg20Trp	Somatic		WXS	Illumina HiSeq	Phase_I	B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	ENST00000221283.5	37	CCDS12181.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592124	0.46214	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	T;T;T	0.80214	-1.35;-1.35;-1.35	4.61	4.61	0.57282	.	0.145261	0.44285	D	0.000468	D	0.88819	0.6540	M	0.85197	2.74	0.36426	D	0.864599	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.69307	0.918;0.963;0.918	D	0.91808	0.5457	10	0.87932	D	0	-0.2451	10.3725	0.44062	0.1956:0.8044:0.0:0.0	.	20;20;20	E7EQD5;Q15833-2;Q15833	.;.;STXB2_HUMAN	W	20	ENSP00000221283:R20W;ENSP00000409471:R20W;ENSP00000413606:R20W	ENSP00000221283:R20W	R	+	1	2	STXBP2	7609632	1.000000	0.71417	1.000000	0.80357	0.149000	0.21700	4.130000	0.57964	2.532000	0.85374	0.563000	0.77884	CGG		0.582	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1		NM_006949	
TFAP2A	7020	hgsc.bcm.edu	37	6	10410466	10410467	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr6:10410466_10410467insG	ENST00000482890.1	-	3	499_500	c.147_148insC	c.(145-150)cccaatfs	p.N50fs	TFAP2A_ENST00000319516.4_Frame_Shift_Ins_p.N46fs|TFAP2A_ENST00000379604.2_Frame_Shift_Ins_p.N50fs|TFAP2A_ENST00000379613.3_Frame_Shift_Ins_p.N52fs|TFAP2A-AS1_ENST00000420777.1_RNA|TFAP2A_ENST00000379608.3_Frame_Shift_Ins_p.N44fs|TFAP2A_ENST00000497266.1_Intron			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	50	Gln/Pro-rich (transactivation domain).				anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				AAGTCGGCATTGGGGGTGTGGG	0.639																																																	0																																										SO:0001589	frameshift_variant	7020			X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.148dupC	6.37:g.10410471_10410471dupG	ENSP00000418541:p.Asn50fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q13777|Q5TAV5|Q8N1C6	Frame_Shift_Ins	INS	ENST00000482890.1	37	CCDS4510.1																																																																																				0.639	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2		NM_003220	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179605552	179605552	+	Silent	SNP	G	G	A			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr2:179605552G>A	ENST00000591111.1	-	46	11681	c.11457C>T	c.(11455-11457)ggC>ggT	p.G3819G	TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.G3898G|TTN_ENST00000460472.2_Silent_p.G3773G|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Silent_p.G3965G|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Silent_p.G4136G			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G3898G(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTGAATACTGCCATTGATGC	0.463																																																	1	Substitution - coding silent(1)	kidney(1)											165.0	161.0	162.0					2																	179605552		1945	4138	6083	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.11457C>T	2.37:g.179605552G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
UBC	7316	hgsc.bcm.edu	37	12	125398050	125398052	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	TGA	TGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr12:125398050_125398052delTGA	ENST00000538617.1	-	3	582_584	c.266_268delTCA	c.(265-270)atcacc>acc	p.I89del	UBC_ENST00000536661.1_5'Flank|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000536769.1_In_Frame_Del_p.I89del|UBC_ENST00000339647.5_In_Frame_Del_p.I89del|UBC_ENST00000546120.1_In_Frame_Del_p.I89del			P0CG48	UBC_HUMAN	ubiquitin C	469	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		ACCTCAAGGGTGATGGTCTTGCC	0.537																																																	0																																										SO:0001651	inframe_deletion	7316				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.266_268delTCA	12.37:g.125398050_125398052delTGA	ENSP00000443053:p.Ile89del	Somatic		WXS	Illumina HiSeq	Phase_I	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	In_Frame_Del	DEL	ENST00000538617.1	37																																																																																					0.537	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1		NM_021009	
UBQLN3	50613	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5528857	5528857	+	Silent	SNP	G	G	A	rs560557342		TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr11:5528857G>A	ENST00000311659.4	-	2	2079	c.1932C>T	c.(1930-1932)gaC>gaT	p.D644D	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_5'Flank|HBE1_ENST00000380237.1_5'Flank	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	644	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.							p.D644D(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCATCCACGTCGCCCCCCG	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		19131	0.001		0.0	False		,,,				2504	0.0				Ovarian(72;684 1260 12332 41642 52180)												1	Substitution - coding silent(1)	kidney(1)											85.0	87.0	86.0					11																	5528857		2201	4297	6498	SO:0001819	synonymous_variant	50613			AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1932C>T	11.37:g.5528857G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q9NRE0	Silent	SNP	ENST00000311659.4	37	CCDS7758.1																																																																																				0.527	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1		NM_017481	
VHL	7428	hgsc.bcm.edu	37	3	10183767	10183767	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr3:10183767G>C	ENST00000256474.2	+	1	1076	c.236G>C	c.(235-237)cGc>cCc	p.R79P	VHL_ENST00000345392.2_Missense_Mutation_p.R79P|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	79			R -> P (in VHLD).		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.S72_V87>L(1)|p.S80fs*73(1)|p.R60fs*35(1)|p.R79P(1)|p.C77_R79del(1)|p.R79H(1)|p.N78fs*80(1)|p.V74fs*77(1)|p.R79_P81>P(1)|p.F76fs*81(1)|p.R79fs*52(1)|p.N78fs*50(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)		TTCTGCAATCGCAGTCCGCGC	0.711		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"""	12	Deletion - Frameshift(6)|Substitution - Missense(2)|Complex - deletion inframe(2)|Complex - frameshift(1)|Deletion - In frame(1)	kidney(12)	GRCh37	CM941366	VHL	M							12.0	15.0	14.0					3																	10183767		2175	4236	6411	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.236G>C	3.37:g.10183767G>C	ENSP00000256474:p.Arg79Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	32	5.146045	0.94603	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99833	-7.03;-7.03	5.43	4.56	0.56223	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.221156	0.48286	D	0.000186	D	0.99684	0.9881	M	0.65498	2.005	0.26769	N	0.969848	D;D	0.76494	0.997;0.999	P;D	0.72338	0.906;0.977	D	0.99050	1.0827	10	0.59425	D	0.04	-11.3454	12.3184	0.54971	0.0825:0.0:0.9174:0.0	.	79;79	P40337-2;P40337	.;VHL_HUMAN	P	79	ENSP00000256474:R79P;ENSP00000344757:R79P	ENSP00000256474:R79P	R	+	2	0	VHL	10158767	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.892000	0.39748	1.300000	0.44818	0.550000	0.68814	CGC		0.711	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
Unknown	0	broad.mit.edu	37	1	16974758	16974758	+	IGR	SNP	G	G	A	rs28484638	byFrequency	TCGA-B0-5710-01A-11D-1669-08	TCGA-B0-5710-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12f1e370-c269-4b95-a89b-a1f3ae42e876	64dd13a7-1b36-43c0-af6d-dcc1c8205ec5	g.chr1:16974758G>A								CROCCP2 (13704 upstream) : RNU1-3 (18521 downstream)																							GGCCGGGGCGGGGTCTCGGCC	0.716																																																	0																																										SO:0001628	intergenic_variant	11209																															1.37:g.16974758G>A		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.716									
