#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_AAChange	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_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_NTotCov	i_NVarCov	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_TTotCov	i_TVarCov	i_Transcript_Id	i_Trna_alt1	i_Trna_alt2	i_Trna_ref	i_Trna_tot	i_Trna_var	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_dbSNPPopFreq	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_refseq_mrna_id	i_secondary_variant_classification
UBR4	23352	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	19420561	19420561	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr1:19420561G>T	ENST00000375254.3	-	95	13846	c.13819C>A	c.(13819-13821)Cgc>Agc	p.R4607S	UBR4_ENST00000467272.2_5'UTR|UBR4_ENST00000543981.1_Missense_Mutation_p.R271S|UBR4_ENST00000375267.2_Missense_Mutation_p.R4607S|UBR4_ENST00000375217.2_Missense_Mutation_p.R4600S|UBR4_ENST00000375226.2_Missense_Mutation_p.R4583S|UBR4_ENST00000429347.2_Missense_Mutation_p.R130S|UBR4_ENST00000375224.1_Missense_Mutation_p.R314S	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4607					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGGTTGGAGCGAACAAAGGTG	0.532																																					p.R4607S		.											.	UBR4-612	0			c.C13819A						.						111.0	90.0	97.0					1																	19420561		2203	4300	6503	SO:0001583	missense	23352	exon95			TGGAGCGAACAAA	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.13819C>A	1.37:g.19420561G>T	ENSP00000364403:p.Arg4607Ser	Somatic	62	1		WXS	Illumina HiSeq	Phase_I	41	11	NM_020765	0	0	19	36	17	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	34	5.331029	0.95733	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375224;ENST00000429347;ENST00000543981	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.62159	0.2405	M	0.84683	2.71	0.80722	D	1	D;D;D;D	0.64830	0.994;0.994;0.994;0.992	D;D;D;D	0.76575	0.982;0.982;0.988;0.969	T	0.63791	-0.6557	10	0.52906	T	0.07	.	18.7785	0.91922	0.0:0.0:1.0:0.0	.	271;130;4607;4583	B4DYV5;B4DPF6;Q5T4S7;Q5T4S7-3	.;.;UBR4_HUMAN;.	S	4607;4607;4600;4583;314;130;271	ENSP00000364403:R4607S;ENSP00000364416:R4607S;ENSP00000364365:R4600S;ENSP00000364374:R4583S;ENSP00000364372:R314S;ENSP00000394173:R130S;ENSP00000444070:R271S	ENSP00000364365:R4600S	R	-	1	0	UBR4	19293148	1.000000	0.71417	0.966000	0.40874	0.992000	0.81027	9.162000	0.94745	2.785000	0.95823	0.591000	0.81541	CGC	.		0.532	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
ZYG11B	79699	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	53236935	53236935	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr1:53236935C>A	ENST00000294353.6	+	3	585	c.440C>A	c.(439-441)aCt>aAt	p.T147N	ZYG11B_ENST00000443756.2_Missense_Mutation_p.T147N|ZYG11B_ENST00000545132.1_Missense_Mutation_p.T147N	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	147										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						AATTCATTAACTCTCTCCCTC	0.478																																					p.T147N		.											.	ZYG11B-94	0			c.C440A						.						97.0	94.0	95.0					1																	53236935		2203	4300	6503	SO:0001583	missense	79699	exon3			CATTAACTCTCTC	AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"""ZYG11 cell cycle regulator family"""	25820	protein-coding gene	gene with protein product			"""zyg-11 homolog (C. elegans)"", ""zyg-11 homolog B (C. elegans)"""	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.440C>A	1.37:g.53236935C>A	ENSP00000294353:p.Thr147Asn	Somatic	169	0		WXS	Illumina HiSeq	Phase_I	73	24	NM_024646	0	0	0	0	0	Q8N2X3|Q9H8L8	Missense_Mutation	SNP	ENST00000294353.6	37	CCDS30717.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745282	0.49151	.	.	ENSG00000162378	ENST00000443756;ENST00000545132;ENST00000294353	T;T;T	0.07021	3.23;3.23;3.23	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.09686	0.0238	L	0.38175	1.15	0.58432	D	0.999994	B;B	0.24258	0.1;0.027	B;B	0.22753	0.041;0.013	T	0.24977	-1.0145	10	0.23891	T	0.37	.	19.6182	0.95643	0.0:1.0:0.0:0.0	.	147;147	B4DK95;Q9C0D3	.;ZY11B_HUMAN	N	147	ENSP00000400522:T147N;ENSP00000441315:T147N;ENSP00000294353:T147N	ENSP00000294353:T147N	T	+	2	0	ZYG11B	53009523	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.662000	0.68032	2.653000	0.90120	0.650000	0.86243	ACT	.		0.478	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646	
SGIP1	84251	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	67138996	67138996	+	Missense_Mutation	SNP	C	C	A	rs142151342		TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr1:67138996C>A	ENST00000371037.4	+	12	670	c.593C>A	c.(592-594)gCt>gAt	p.A198D	AL139147.1_ENST00000502413.2_Intron|SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000237247.6_Missense_Mutation_p.A202D|SGIP1_ENST00000371039.1_Missense_Mutation_p.A166D|SGIP1_ENST00000371035.3_Missense_Mutation_p.A155D|SGIP1_ENST00000371036.3_Missense_Mutation_p.A165D	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	198	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ACGGCCCTTGCTCCTCTCTTT	0.363																																					p.A198D		.											.	SGIP1-93	0			c.C593A						.						177.0	185.0	183.0					1																	67138996		2203	4300	6503	SO:0001583	missense	84251	exon12			CCCTTGCTCCTCT	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.593C>A	1.37:g.67138996C>A	ENSP00000360076:p.Ala198Asp	Somatic	620	0		WXS	Illumina HiSeq	Phase_I	301	95	NM_032291	0	0	1	1	0	A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332511	0.41297	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000424320;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T;T	0.03330	3.97;3.97;3.97;3.97;3.97;3.97	5.73	5.73	0.89815	.	0.171335	0.52532	D	0.000074	T	0.04003	0.0112	N	0.17474	0.49	0.35690	D	0.814803	D	0.71674	0.998	D	0.76071	0.987	T	0.59736	-0.7398	10	0.11485	T	0.65	-18.8968	18.4621	0.90743	0.0:1.0:0.0:0.0	.	198	Q9BQI5	SGIP1_HUMAN	D	202;166;190;155;201;201;165;198	ENSP00000237247:A202D;ENSP00000360078:A166D;ENSP00000410439:A190D;ENSP00000360074:A155D;ENSP00000360075:A165D;ENSP00000360076:A198D	ENSP00000237247:A202D	A	+	2	0	SGIP1	66911584	0.996000	0.38824	1.000000	0.80357	0.595000	0.36748	4.773000	0.62331	2.718000	0.92993	0.650000	0.86243	GCT	C|1.000;G|0.000		0.363	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291	
CDC7	8317	hgsc.bcm.edu	37	1	91973853	91973853	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr1:91973853G>C	ENST00000428239.1	+	4	493	c.234G>C	c.(232-234)caG>caC	p.Q78H	CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000430031.2_Missense_Mutation_p.Q50H|CDC7_ENST00000234626.6_Missense_Mutation_p.Q78H	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	78	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		CCACAGCACAGTTACAAGTAG	0.343																																					p.Q78H		.											.	CDC7-1125	0			c.G234C						.						58.0	56.0	57.0					1																	91973853		2203	4300	6503	SO:0001583	missense	8317	exon4			AGCACAGTTACAA	AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"""CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1"", ""CDC7 cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 homolog (S. cerevisiae)"""	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.234G>C	1.37:g.91973853G>C	ENSP00000393139:p.Gln78His	Somatic	116	0		WXS	Illumina HiSeq	Phase_I	21	2	NM_003503	0	0	0	0	0	D3DT31|O00558|Q5T5U5	Missense_Mutation	SNP	ENST00000428239.1	37	CCDS734.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055516	0.36277	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239;ENST00000426137	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	6.07	1.06	0.20224	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.160176	0.56097	N	0.000021	T	0.27967	0.0689	N	0.21142	0.635	0.46131	D	0.998887	B;B	0.20459	0.045;0.012	B;B	0.27887	0.084;0.034	T	0.13176	-1.0519	10	0.66056	D	0.02	-3.4716	7.4595	0.27287	0.3535:0.1046:0.5418:0.0	.	50;78	B7Z5H7;O00311	.;CDC7_HUMAN	H	50;78;78;78	ENSP00000407477:Q50H;ENSP00000234626:Q78H;ENSP00000393139:Q78H;ENSP00000398077:Q78H	ENSP00000234626:Q78H	Q	+	3	2	CDC7	91746441	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	2.019000	0.41001	-0.040000	0.13580	0.655000	0.94253	CAG	.		0.343	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503	
BCAR3	8412	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	94054731	94054731	+	Silent	SNP	C	C	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr1:94054731C>T	ENST00000370244.1	-	7	1020	c.732G>A	c.(730-732)caG>caA	p.Q244Q	BCAR3_ENST00000370243.1_Silent_p.Q244Q|BCAR3_ENST00000260502.6_Silent_p.Q244Q|BCAR3_ENST00000370247.3_Silent_p.Q153Q	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	244	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TGGCGCCACTCTGCTGGGAGA	0.667																																					p.Q244Q		.											.	BCAR3-228	0			c.G732A						.						30.0	30.0	30.0					1																	94054731		2203	4300	6503	SO:0001819	synonymous_variant	8412	exon5			GCCACTCTGCTGG	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.732G>A	1.37:g.94054731C>T		Somatic	61	0		WXS	Illumina HiSeq	Phase_I	94	35	NM_001261409	0	0	0	1	1	D3DT43|Q5TEW3|Q6UW40|Q9BR50	Silent	SNP	ENST00000370244.1	37	CCDS745.1																																																																																			.		0.667	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1		
ATP1A1	476	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	116931576	116931576	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr1:116931576A>C	ENST00000295598.5	+	7	941	c.689A>C	c.(688-690)gAt>gCt	p.D230A	ATP1A1_ENST00000491156.1_3'UTR|ATP1A1_ENST00000369496.4_Missense_Mutation_p.D199A|ATP1A1_ENST00000537345.1_Missense_Mutation_p.D230A	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	230					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	AGGTCTCCAGATTTCACAAAT	0.453																																					p.D230A		.											.	ATP1A1-91	0			c.A689C						.						86.0	90.0	89.0					1																	116931576		2203	4300	6503	SO:0001583	missense	476	exon7			CTCCAGATTTCAC	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.689A>C	1.37:g.116931576A>C	ENSP00000295598:p.Asp230Ala	Somatic	193	0		WXS	Illumina HiSeq	Phase_I	89	38	NM_000701	0	0	17	45	28	B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	CCDS887.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.674536	0.67928	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000339159;ENST00000369496	D;D;D	0.90197	-2.63;-2.63;-2.63	5.14	5.14	0.70334	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	T	0.82098	0.4963	L	0.41027	1.25	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.81493	-0.0908	10	0.87932	D	0	.	15.1179	0.72419	1.0:0.0:0.0:0.0	.	230;230	F5H3A1;P05023	.;AT1A1_HUMAN	A	230;230;229;199	ENSP00000295598:D230A;ENSP00000445306:D230A;ENSP00000358508:D199A	ENSP00000295598:D230A	D	+	2	0	ATP1A1	116733099	1.000000	0.71417	0.971000	0.41717	0.988000	0.76386	9.139000	0.94554	2.165000	0.68154	0.533000	0.62120	GAT	.		0.453	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233	
FAM72B	653820	hgsc.bcm.edu	37	1	120839913	120839913	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr1:120839913C>A	ENST00000369390.3	+	1	909	c.80C>A	c.(79-81)tCt>tAt	p.S27Y	FAM72B_ENST00000355228.4_Intron|FAM72B_ENST00000471903.2_Intron|RP11-439A17.7_ENST00000412759.1_RNA	NM_001100910.1	NP_001094380.1	Q86X60	FA72B_HUMAN	family with sequence similarity 72, member B	27										large_intestine(1)|lung(2)	3	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		GTGCTCAGCTCTAGGGGAATG	0.483																																					p.S27Y		.											.	FAM72B-68	0			c.C80A						.						4.0	4.0	4.0					1																	120839913		1473	3170	4643	SO:0001583	missense	653820	exon1			TCAGCTCTAGGGG	AL357493	CCDS72848.1	1p12	2014-05-06			ENSG00000188610	ENSG00000188610			24805	protein-coding gene	gene with protein product		614711					Standard	NM_001100910		Approved	RP11-439A17.6	uc009whp.3	Q86X60	OTTHUMG00000185025	ENST00000369390.3:c.80C>A	1.37:g.120839913C>A	ENSP00000358397:p.Ser27Tyr	Somatic	758	0		WXS	Illumina HiSeq	Phase_I	657	89	NM_001100910	0	0	0	0	0	B2RPQ5|Q5QP15	Missense_Mutation	SNP	ENST00000369390.3	37	CCDS41374.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.605499	0.28623	.	.	ENSG00000188610	ENST00000369390	T	0.32272	1.46	2.52	2.52	0.30459	.	0.148029	0.43416	U	0.000568	T	0.07728	0.0194	L	0.51422	1.61	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22977	-1.0201	10	0.05525	T	0.97	.	5.3489	0.16024	0.0:0.8329:0.0:0.1671	.	27	Q86X60	FA72B_HUMAN	Y	27	ENSP00000358397:S27Y	ENSP00000358397:S27Y	S	+	2	0	FAM72B	120641436	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.637000	0.46553	1.426000	0.47256	0.398000	0.26397	TCT	.		0.483	FAM72B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098437.1		
CELF3	11189	hgsc.bcm.edu	37	1	151678722	151678722	+	Silent	SNP	T	T	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr1:151678722T>C	ENST00000290583.4	-	10	1897	c.1104A>G	c.(1102-1104)caA>caG	p.Q368Q	CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000290585.4_Silent_p.Q318Q|CELF3_ENST00000392706.3_Silent_p.Q163Q|RP11-98D18.1_ENST00000457548.1_RNA	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	368	Gln-rich.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						gctgctgctgttgctgctgct	0.657																																					p.Q368Q		.											.	CELF3-91	0			c.A1104G						.						19.0	20.0	20.0					1																	151678722		2200	4297	6497	SO:0001819	synonymous_variant	11189	exon10			CTGCTGTTGCTGC	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.1104A>G	1.37:g.151678722T>C		Somatic	13	0		WXS	Illumina HiSeq	Phase_I	35	3	NM_007185	0	0	0	62	62	B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Silent	SNP	ENST00000290583.4	37	CCDS1002.1	.	.	.	.	.	.	.	.	.	.	.	4.938	0.174339	0.09391	.	.	ENSG00000159409	ENST00000420342	.	.	.	3.25	1.39	0.22231	.	.	.	.	.	T	0.36496	0.0969	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.19943	-1.0290	4	.	.	.	-0.0118	5.4728	0.16680	0.0:0.7409:0.0:0.2591	.	.	.	.	S	369	.	.	N	-	2	0	CELF3	149945346	0.076000	0.21285	1.000000	0.80357	0.644000	0.38419	-0.812000	0.04496	0.416000	0.25844	-0.389000	0.06534	AAC	.		0.657	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185	
PGLYRP3	114771	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	153279661	153279661	+	Nonsense_Mutation	SNP	G	G	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr1:153279661G>C	ENST00000290722.1	-	2	190	c.138C>G	c.(136-138)taC>taG	p.Y46*		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	46					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGTGATGATGTAGGCCACAG	0.622																																					p.Y46X		.											.	PGLYRP3-94	0			c.C138G						.						53.0	47.0	49.0					1																	153279661		2203	4300	6503	SO:0001587	stop_gained	114771	exon2			GATGATGTAGGCC	AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I alpha precursor"""	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.138C>G	1.37:g.153279661G>C	ENSP00000290722:p.Tyr46*	Somatic	42	0		WXS	Illumina HiSeq	Phase_I	74	23	NM_052891	0	0	0	0	0	A1A4U8|Q5SY65	Nonsense_Mutation	SNP	ENST00000290722.1	37	CCDS1035.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.582950	0.46006	.	.	ENSG00000159527	ENST00000290722	.	.	.	4.06	-2.35	0.06684	.	0.381500	0.19389	N	0.115444	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.6165	8.7113	0.34385	0.4751:0.0:0.5249:0.0	.	.	.	.	X	46	.	ENSP00000290722:Y46X	Y	-	3	2	PGLYRP3	151546285	0.000000	0.05858	0.045000	0.18777	0.020000	0.10135	-0.301000	0.08232	-0.603000	0.05767	-0.137000	0.14449	TAC	.		0.622	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1	NM_052891	
BMS1	9790	ucsc.edu	37	10	43315737	43315737	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr10:43315737G>T	ENST00000374518.5	+	16	2697	c.2634G>T	c.(2632-2634)gaG>gaT	p.E878D		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	878					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTCAGTATGAGGGTTTTCGAC	0.433																																					p.E878D													.	BMS1-93	0			c.G2634T						.						120.0	118.0	118.0					10																	43315737		2203	4300	6503	SO:0001583	missense	9790	exon16			GTATGAGGGTTTT	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.2634G>T	10.37:g.43315737G>T	ENSP00000363642:p.Glu878Asp	Somatic	254	2		WXS	Illumina HiSeq		197	2	NM_014753	0	0	33	52	19	Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115516	0.77323	.	.	ENSG00000165733	ENST00000374518	T	0.17854	2.25	5.05	-4.55	0.03441	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.38506	0.1043	M	0.92122	3.275	0.47778	D	0.999516	D	0.53462	0.96	P	0.58077	0.832	T	0.53995	-0.8359	10	0.39692	T	0.17	.	13.1374	0.59417	0.6341:0.0:0.3659:0.0	.	878	Q14692	BMS1_HUMAN	D	878	ENSP00000363642:E878D	ENSP00000363642:E878D	E	+	3	2	BMS1	42635743	0.998000	0.40836	0.969000	0.41365	0.964000	0.63967	0.474000	0.22148	-0.725000	0.04901	-0.396000	0.06452	GAG	.		0.433	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753	
NODAL	4838	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	72195424	72195424	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr10:72195424T>A	ENST00000287139.3	-	2	508	c.509A>T	c.(508-510)gAg>gTg	p.E170V	AC022532.1_ENST00000420338.2_Missense_Mutation_p.L124H	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	170					axial mesodermal cell fate specification (GO:0048327)|brain development (GO:0007420)|cell migration involved in gastrulation (GO:0042074)|digestive tract morphogenesis (GO:0048546)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic pattern specification (GO:0009880)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endodermal cell differentiation (GO:0035987)|epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification (GO:0060802)|floor plate morphogenesis (GO:0033505)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|heart looping (GO:0001947)|inhibition of neuroepithelial cell differentiation (GO:0002085)|left lung morphogenesis (GO:0060460)|liver development (GO:0001889)|maternal placenta development (GO:0001893)|maternal process involved in parturition (GO:0060137)|mesendoderm development (GO:0048382)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of chorionic trophoblast cell proliferation (GO:1901383)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of trophoblast cell migration (GO:1901164)|neural fold formation (GO:0001842)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|placenta development (GO:0001890)|polarity specification of proximal/distal axis (GO:0010085)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gastrulation (GO:0010470)|regulation of stem cell maintenance (GO:2000036)|SMAD protein signal transduction (GO:0060395)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway involved in primitive streak formation (GO:0090010)|trophectodermal cellular morphogenesis (GO:0001831)|vasculature development (GO:0001944)	extracellular space (GO:0005615)	morphogen activity (GO:0016015)|type I activin receptor binding (GO:0070698)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						CATCTGCTTCTCCAGGGCCCC	0.602																																					p.E170V		.											.	NODAL-289	0			c.A509T						.						37.0	37.0	37.0					10																	72195424		2203	4300	6503	SO:0001583	missense	4838	exon2			TGCTTCTCCAGGG	BC033585	CCDS7304.1	10q22.1	2012-12-07	2012-12-07		ENSG00000156574	ENSG00000156574			7865	protein-coding gene	gene with protein product		601265	"""nodal, mouse, homolog"", ""nodal homolog (mouse)"""			9354794	Standard	NM_018055		Approved		uc001jrc.2	Q96S42	OTTHUMG00000018408	ENST00000287139.3:c.509A>T	10.37:g.72195424T>A	ENSP00000287139:p.Glu170Val	Somatic	74	0		WXS	Illumina HiSeq	Phase_I	122	38	NM_018055	0	0	0	0	0	Q2M3A5|Q8N4V3	Missense_Mutation	SNP	ENST00000287139.3	37	CCDS7304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.27|14.27	2.486027|2.486027	0.44147|0.44147	.|.	.|.	ENSG00000156574|ENSG00000197604	ENST00000287139;ENST00000414871|ENST00000420338	D;D|.	0.85339|.	-1.97;-1.94|.	5.99|5.99	1.14|1.14	0.20703|0.20703	.|.	0.737242|.	0.13941|.	N|.	0.352164|.	T|T	0.39306|0.39306	0.1073|0.1073	L|L	0.56769|0.56769	1.78|1.78	0.28250|0.28250	N|N	0.925313|0.925313	B|.	0.17268|.	0.021|.	B|.	0.22880|.	0.042|.	T|T	0.46233|0.46233	-0.9206|-0.9206	10|6	0.31617|0.87932	T|D	0.26|0	.|.	1.0685|1.0685	0.01616|0.01616	0.1347:0.2379:0.2788:0.3486|0.1347:0.2379:0.2788:0.3486	.|.	170|.	Q96S42|.	NODAL_HUMAN|.	V|H	170;115|124	ENSP00000287139:E170V;ENSP00000394468:E115V|.	ENSP00000287139:E170V|ENSP00000411125:L124H	E|L	-|+	2|2	0|0	NODAL|AC022532.1	71865430|71865430	0.001000|0.001000	0.12720|0.12720	0.956000|0.956000	0.39512|0.39512	0.792000|0.792000	0.44763|0.44763	0.801000|0.801000	0.27055|0.27055	0.162000|0.162000	0.19483|0.19483	0.533000|0.533000	0.62120|0.62120	GAG|CTC	.		0.602	NODAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048511.1	NM_018055	
NOLC1	9221	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	103917239	103917239	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr10:103917239C>T	ENST00000605788.1	+	4	603	c.368C>T	c.(367-369)gCa>gTa	p.A123V	NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000405356.1_Missense_Mutation_p.A123V|NOLC1_ENST00000488254.2_Missense_Mutation_p.A124V	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	123	11 X 12 AA approximate repeats of an acidic serine cluster.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		GCAGCCAAAGCATCAGAGAGT	0.512																																					p.A123V		.											.	NOLC1-91	0			c.C368T						.						68.0	65.0	66.0					10																	103917239		2203	4300	6503	SO:0001583	missense	9221	exon4			CCAAAGCATCAGA	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.368C>T	10.37:g.103917239C>T	ENSP00000474710:p.Ala123Val	Somatic	95	0		WXS	Illumina HiSeq	Phase_I	75	21	NM_004741	0	0	2	2	0	Q15030|Q5VV70|Q9BUV3	Missense_Mutation	SNP	ENST00000605788.1	37	CCDS7530.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978454	0.34942	.	.	ENSG00000166197	ENST00000405356;ENST00000370007	T	0.43294	0.95	5.52	5.52	0.82312	.	0.307617	0.28589	N	0.014814	T	0.47967	0.1474	M	0.78801	2.425	0.28217	N	0.926698	P;P;P	0.42296	0.775;0.775;0.666	B;B;B	0.42282	0.382;0.382;0.212	T	0.57207	-0.7851	10	0.66056	D	0.02	-13.6615	11.8733	0.52534	0.272:0.728:0.0:0.0	.	124;123;123	Q14978-3;Q14978-2;Q14978	.;.;NOLC1_HUMAN	V	123	ENSP00000385410:A123V	ENSP00000359024:A123V	A	+	2	0	NOLC1	103907229	0.977000	0.34250	0.998000	0.56505	0.422000	0.31414	2.072000	0.41510	2.620000	0.88729	0.655000	0.94253	GCA	.		0.512	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741	
BRSK2	9024	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	1466623	1466623	+	Silent	SNP	C	C	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr11:1466623C>T	ENST00000528841.1	+	10	1296	c.912C>T	c.(910-912)gaC>gaT	p.D304D	BRSK2_ENST00000544817.1_5'UTR|BRSK2_ENST00000308230.5_Silent_p.D304D|BRSK2_ENST00000526678.1_Silent_p.D304D|BRSK2_ENST00000528710.1_Silent_p.D244D|BRSK2_ENST00000382179.1_Silent_p.D350D|BRSK2_ENST00000531197.1_Silent_p.D304D|BRSK2_ENST00000308219.9_Silent_p.D304D			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	304	UBA.				actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		ACGTGCTGGACAGCATGCACT	0.667																																					p.D350D		.											.	BRSK2-333	0			c.C1050T						.						34.0	42.0	39.0					11																	1466623		2132	4245	6377	SO:0001819	synonymous_variant	9024	exon10			GCTGGACAGCATG	AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.912C>T	11.37:g.1466623C>T		Somatic	43	0		WXS	Illumina HiSeq	Phase_I	58	24	NM_001256630	0	0	0	0	0	B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Silent	SNP	ENST00000528841.1	37	CCDS58107.1																																																																																			.		0.667	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393033.1	NM_003957	
CCDC73	493860	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	32623898	32623898	+	3'UTR	SNP	A	A	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr11:32623898A>T	ENST00000335185.5	-	0	3742				EIF3M_ENST00000524896.1_Missense_Mutation_p.N228Y|EIF3M_ENST00000531120.1_Missense_Mutation_p.N360Y	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					CTGGAAACAAAATCTGAACAA	0.328																																					p.N360Y		.											.	EIF3M-155	0			c.A1078T						.						93.0	93.0	93.0					11																	32623898		2202	4298	6500	SO:0001624	3_prime_UTR_variant	10480	exon11			AAACAAAATCTGA	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.*459T>A	11.37:g.32623898A>T		Somatic	173	0		WXS	Illumina HiSeq	Phase_I	22	10	NM_006360	0	0	223	416	193	Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	CCDS41630.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.454889	0.63290	.	.	ENSG00000149100	ENST00000531120;ENST00000524896;ENST00000526267	T;T;T	0.51325	1.26;0.72;0.71	5.7	5.7	0.88788	.	0.042254	0.85682	D	0.000000	T	0.62889	0.2465	M	0.82056	2.57	0.80722	D	1	D;D	0.61697	0.97;0.99	P;P	0.51615	0.675;0.675	T	0.69986	-0.4996	10	0.87932	D	0	-19.1647	15.9644	0.79956	1.0:0.0:0.0:0.0	.	228;360	B4E2Q4;Q7L2H7	.;EIF3M_HUMAN	Y	360;228;213	ENSP00000436049:N360Y;ENSP00000436787:N228Y;ENSP00000432139:N213Y	ENSP00000436787:N228Y	N	+	1	0	EIF3M	32580474	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	8.302000	0.89953	2.172000	0.68678	0.460000	0.39030	AAT	.		0.328	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391	
DGKZ	8525	hgsc.bcm.edu	37	11	46388524	46388524	+	Missense_Mutation	SNP	G	G	A	rs367886121	byFrequency	TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr11:46388524G>A	ENST00000454345.1	+	2	843	c.718G>A	c.(718-720)Gcc>Acc	p.A240T	DGKZ_ENST00000456247.2_Intron|DGKZ_ENST00000527911.1_Intron|DGKZ_ENST00000318201.8_Intron|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000532868.2_Intron|DGKZ_ENST00000395574.3_Intron|DGKZ_ENST00000421244.2_Intron|DGKZ_ENST00000343674.6_Intron|DGKZ_ENST00000525434.1_Intron|DGKZ_ENST00000543978.1_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	240					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GGCCTGGAGCGCCCTGCTCGC	0.711													G|||	20	0.00399361	0.0136	0.0029	5008	,	,		15194	0.0		0.0	False		,,,				2504	0.0				p.A240T		.											.	DGKZ-676	0			c.G718A						.	G	THR/ALA,,,,,,	24,3528		0,24,1752	3.0	3.0	3.0		718,,,,,,	-1.2	1.0	11		3	0,7448		0,0,3724	no	missense,intron,intron,intron,intron,intron,intron	DGKZ	NM_001105540.1,NM_001199266.1,NM_001199267.1,NM_001199268.1,NM_003646.3,NM_201532.2,NM_201533.3	58,,,,,,	0,24,5476	AA,AG,GG		0.0,0.6757,0.2182	benign,,,,,,	240/1118,,,,,,	46388524	24,10976	1776	3724	5500	SO:0001583	missense	8525	exon2			TGGAGCGCCCTGC	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.718G>A	11.37:g.46388524G>A	ENSP00000412178:p.Ala240Thr	Somatic	3	1		WXS	Illumina HiSeq	Phase_I	15	10	NM_001105540	0	0	0	0	0	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533442	0.45073	0.006757	0.0	ENSG00000149091	ENST00000454345	T	0.70631	-0.5	4.59	-1.22	0.09494	.	2.470100	0.01661	N	0.025119	T	0.35770	0.0943	N	0.04959	-0.14	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.51100	-0.8748	9	.	.	.	.	0.8788	0.01230	0.3054:0.2439:0.3075:0.1432	.	240	Q13574	DGKZ_HUMAN	T	240	ENSP00000412178:A240T	.	A	+	1	0	DGKZ	46345100	0.000000	0.05858	0.996000	0.52242	0.973000	0.67179	-1.483000	0.02318	0.096000	0.17463	0.462000	0.41574	GCC	.		0.711	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540	
OR5M3	219482	hgsc.bcm.edu	37	11	56237625	56237625	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr11:56237625C>G	ENST00000312240.2	-	1	389	c.349G>C	c.(349-351)Gcc>Ccc	p.A117P		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					CTATCAAAGGCCATCGCAGCA	0.363																																					p.A117P		.											.	OR5M3-70	0			c.G349C						.						90.0	85.0	87.0					11																	56237625		2200	4295	6495	SO:0001583	missense	219482	exon1			CAAAGGCCATCGC	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.349G>C	11.37:g.56237625C>G	ENSP00000312208:p.Ala117Pro	Somatic	303	0		WXS	Illumina HiSeq	Phase_I	23	2	NM_001004742	0	0	0	0	0	B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828904	0.71258	.	.	ENSG00000174937	ENST00000312240	T	0.56103	0.48	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000255	T	0.79082	0.4386	H	0.97315	3.98	0.38870	D	0.956688	D	0.60575	0.988	P	0.62491	0.903	D	0.86256	0.1652	10	0.87932	D	0	-8.5722	11.2086	0.48784	0.2878:0.7122:0.0:0.0	.	117	Q8NGP4	OR5M3_HUMAN	P	117	ENSP00000312208:A117P	ENSP00000312208:A117P	A	-	1	0	OR5M3	55994201	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	2.409000	0.44583	2.381000	0.81170	0.478000	0.44815	GCC	.		0.363	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742	
TMX2	51075	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	57480106	57480106	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr11:57480106C>A	ENST00000278422.4	+	1	28	c.16C>A	c.(16-18)Cct>Act	p.P6T	MED19_ENST00000431606.2_5'Flank|TMX2_ENST00000378312.4_Missense_Mutation_p.P6T|MED19_ENST00000337672.2_5'Flank|TMX2-CTNND1_ENST00000528395.1_Missense_Mutation_p.P6T	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	6					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						GGTCTTGGCACCTCTAATTGC	0.592																																					p.P6T		.											.	TMX2-90	0			c.C16A						.						70.0	57.0	61.0					11																	57480106		2201	4296	6497	SO:0001583	missense	51075	exon1			TTGGCACCTCTAA	AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.16C>A	11.37:g.57480106C>A	ENSP00000278422:p.Pro6Thr	Somatic	59	0		WXS	Illumina HiSeq	Phase_I	76	27	NM_015959	0	0	17	35	18	B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Missense_Mutation	SNP	ENST00000278422.4	37	CCDS7967.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.651806	0.67472	.	.	ENSG00000213593	ENST00000378312;ENST00000278422	T	0.53857	0.6	5.98	5.98	0.97165	.	0.128810	0.53938	U	0.000057	T	0.64349	0.2590	L	0.43152	1.355	0.58432	D	0.999993	D;D	0.67145	0.996;0.985	P;P	0.58266	0.836;0.756	T	0.63919	-0.6528	10	0.66056	D	0.02	-4.5842	20.0512	0.97629	0.0:1.0:0.0:0.0	.	6;6	Q9Y320-2;Q9Y320	.;TMX2_HUMAN	T	6	ENSP00000367562:P6T	ENSP00000436274:P6T	P	+	1	0	TMX2	57236682	0.999000	0.42202	0.427000	0.26684	0.277000	0.26821	4.548000	0.60718	2.847000	0.97988	0.591000	0.81541	CCT	.		0.592	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1	NM_015959	
TAF1D	79101	ucsc.edu	37	11	93466710	93466710	+	IGR	SNP	C	C	T	rs572857017		TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr11:93466710C>T	ENST00000448108.2	-	0	2082				SNORD5_ENST00000459342.1_RNA|SNORA8_ENST00000384574.1_RNA|SNORA32_ENST00000384072.1_RNA|MIR1304_ENST00000408243.1_RNA|TAF1D_ENST00000546088.1_Intron|SNORA25_ENST00000384384.1_RNA|SNORA40_ENST00000388090.1_RNA|SNORD6_ENST00000365444.1_RNA|SNORA18_ENST00000384416.1_RNA|SNORA1_ENST00000384107.1_RNA	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa						gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						CTCTATGAGGCGTTTCCAACG	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		19659	0.0		0.0	False		,,,				2504	0.001				.													.	.	0			.						.						89.0	84.0	86.0					11																	93466710		874	1989	2863	SO:0001628	intergenic_variant	677805	.			ATGAGGCGTTTCC		CCDS8293.1	11q21	2012-05-30	2008-09-30	2008-09-30	ENSG00000166012	ENSG00000166012			28759	protein-coding gene	gene with protein product		612823	"""Josephin domain containing 3"""	JOSD3		15520167, 17318177	Standard	NM_024116		Approved	MGC5306, TAF(I)41	uc001pec.3	Q9H5J8	OTTHUMG00000167451		11.37:g.93466710C>T		Somatic	194	0		WXS	Illumina HiSeq		16	4	.	0	0	5	17	12	Q6I9Y6	RNA	SNP	ENST00000448108.2	37	CCDS8293.1																																																																																			.		0.408	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394662.2	NM_024116	
SIK2	23235	hgsc.bcm.edu;broad.mit.edu	37	11	111590501	111590501	+	Silent	SNP	C	C	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr11:111590501C>T	ENST00000304987.3	+	10	1442	c.1269C>T	c.(1267-1269)gtC>gtT	p.V423V	SIK2_ENST00000533868.1_3'UTR	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	423					insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GCGTTTAGGTCAATGGCTGTC	0.517																																					p.V423V		.											.	SIK2-783	0			c.C1269T						.						45.0	30.0	35.0					11																	111590501		2201	4297	6498	SO:0001819	synonymous_variant	23235	exon10			TTAGGTCAATGGC	AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.1269C>T	11.37:g.111590501C>T		Somatic	45	0		WXS	Illumina HiSeq	Phase_I	59	21	NM_015191	0	0	1	1	0	A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Silent	SNP	ENST00000304987.3	37	CCDS8347.1																																																																																			.		0.517	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319352.3	NM_015191	
NXPE1	120400	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	11	114401163	114401163	+	Silent	SNP	C	C	T	rs151227911	byFrequency	TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr11:114401163C>T	ENST00000424269.1	-	2	566	c.567G>A	c.(565-567)gcG>gcA	p.A189A	NXPE1_ENST00000536271.1_5'Flank|NXPE1_ENST00000251921.2_Silent_p.A47A|NXPE1_ENST00000536312.1_Silent_p.A189A			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	189						extracellular region (GO:0005576)											AGAGAGCCGACGCCCCTTCAC	0.507													C|||	2	0.000399361	0.0	0.0	5008	,	,		20678	0.002		0.0	False		,,,				2504	0.0				p.A47A		.											.	.	0			c.G141A						.	C		0,4402		0,0,2201	75.0	78.0	77.0		141	-8.0	0.0	11	dbSNP_134	77	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	FAM55A	NM_152315.2		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		47/406	114401163	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	120400	exon3			AGCCGACGCCCCT	BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.567G>A	11.37:g.114401163C>T		Somatic	170	0		WXS	Illumina HiSeq	Phase_I	103	19	NM_152315	0	0	0	0	0	B0YJ13	Silent	SNP	ENST00000424269.1	37																																																																																				C|0.999;T|0.001		0.507	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315	
SMARCC2	6601	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	56558312	56558312	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr12:56558312T>G	ENST00000267064.4	-	27	3429	c.3343A>C	c.(3343-3345)Aac>Cac	p.N1115H	SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000550164.1_Missense_Mutation_p.N1146H|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1115	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCATGCAGGTTAGGAGGAGCG	0.592																																					p.N1115H		.											.	SMARCC2-229	0			c.A3343C						.						114.0	95.0	101.0					12																	56558312		2203	4300	6503	SO:0001583	missense	6601	exon27			GCAGGTTAGGAGG	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3343A>C	12.37:g.56558312T>G	ENSP00000267064:p.Asn1115His	Somatic	123	0		WXS	Illumina HiSeq	Phase_I	259	113	NM_003075	0	0	25	52	27	F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.622273	0.46840	.	.	ENSG00000139613	ENST00000550164;ENST00000267064	T;T	0.47528	0.85;0.84	5.28	4.1	0.47936	.	1.132090	0.06439	N	0.725536	T	0.33498	0.0865	N	0.14661	0.345	0.27631	N	0.948035	B	0.09022	0.002	B	0.04013	0.001	T	0.23833	-1.0177	9	.	.	.	-9.2359	11.5054	0.50463	0.0:0.0:0.1507:0.8493	.	1115	Q8TAQ2	SMRC2_HUMAN	H	1146;1115	ENSP00000449396:N1146H;ENSP00000267064:N1115H	.	N	-	1	0	SMARCC2	54844579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.575000	0.36493	0.921000	0.36994	0.460000	0.39030	AAC	.		0.592	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1		
GLI1	2735	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	57861143	57861143	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr12:57861143C>A	ENST00000228682.2	+	9	1031	c.940C>A	c.(940-942)Cgc>Agc	p.R314S	GLI1_ENST00000543426.1_Missense_Mutation_p.R186S|GLI1_ENST00000546141.1_Missense_Mutation_p.R273S	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	314					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GTCATACTCACGCCTCGAAAA	0.542																																					p.R314S	Pancreas(157;841 1936 10503 41495 50368)	.											.	GLI1-722	0			c.C940A						.						109.0	96.0	101.0					12																	57861143		2203	4300	6503	SO:0001583	missense	2735	exon9			TACTCACGCCTCG		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.940C>A	12.37:g.57861143C>A	ENSP00000228682:p.Arg314Ser	Somatic	123	0		WXS	Illumina HiSeq	Phase_I	190	38	NM_005269	0	0	0	0	0	D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759669	0.89932	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	4.64	3.69	0.42338	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000056	T	0.49098	0.1537	N	0.21448	0.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53906	-0.8372	10	0.87932	D	0	.	13.7621	0.62973	0.1541:0.8459:0.0:0.0	.	314	P08151	GLI1_HUMAN	S	186;314;273;273;186	ENSP00000437607:R186S;ENSP00000228682:R314S;ENSP00000441006:R273S;ENSP00000434408:R273S	ENSP00000228682:R314S	R	+	1	0	GLI1	56147410	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.744000	0.55112	2.575000	0.86900	0.563000	0.77884	CGC	.		0.542	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269	
C12orf66	144577	hgsc.bcm.edu;broad.mit.edu	37	12	64615826	64615826	+	Silent	SNP	G	G	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr12:64615826G>C	ENST00000398055.3	-	1	245	c.192C>G	c.(190-192)gcC>gcG	p.A64A	C12orf66_ENST00000544871.1_Intron|C12orf66_ENST00000540673.1_5'UTR|C12orf66_ENST00000311915.8_Silent_p.A64A|RPS11P6_ENST00000535684.1_RNA	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	64										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						AGACCTTCTCGGCCGCGGCCA	0.637																																					p.A64A		.											.	C12orf66-515	0			c.C192G						.						26.0	30.0	29.0					12																	64615826		1954	4127	6081	SO:0001819	synonymous_variant	144577	exon1			CTTCTCGGCCGCG		CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.192C>G	12.37:g.64615826G>C		Somatic	36	0		WXS	Illumina HiSeq	Phase_I	60	18	NM_152440	0	0	1	1	0	C9JX54|Q8IYA0	Silent	SNP	ENST00000398055.3	37	CCDS41803.1																																																																																			.		0.637	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400921.1	NM_152440	
CEP290	80184	ucsc.edu	37	12	88482834	88482834	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr12:88482834A>G	ENST00000552810.1	-	31	4347	c.4004T>C	c.(4003-4005)tTa>tCa	p.L1335S	CEP290_ENST00000309041.7_Missense_Mutation_p.L1337S|CEP290_ENST00000397838.3_Missense_Mutation_p.L395S|CEP290_ENST00000547691.2_Missense_Mutation_p.L395S	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1335					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						GGTATCCTTTAAAGTGCTTAT	0.338																																					p.L1335S													.	CEP290-96	0			c.T4004C						.						69.0	64.0	66.0					12																	88482834		1798	4067	5865	SO:0001583	missense	80184	exon31			TCCTTTAAAGTGC	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.4004T>C	12.37:g.88482834A>G	ENSP00000448012:p.Leu1335Ser	Somatic	103	0		WXS	Illumina HiSeq		73	4	NM_025114	0	0	0	0	0	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.194140	0.78902	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.72835	-0.15;-0.69;-0.69;-0.15	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000001	T	0.81456	0.4826	M	0.68952	2.095	0.43110	D	0.99481	D	0.89917	1.0	D	0.80764	0.994	T	0.78797	-0.2063	10	0.21014	T	0.42	.	15.7269	0.77766	1.0:0.0:0.0:0.0	.	1335	O15078	CE290_HUMAN	S	395;1335;1337;395	ENSP00000446905:L395S;ENSP00000448012:L1335S;ENSP00000308021:L1337S;ENSP00000380938:L395S	ENSP00000308021:L1337S	L	-	2	0	CEP290	87006965	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.601000	0.90864	2.123000	0.65237	0.482000	0.46254	TTA	.		0.338	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114	
PEBP1	5037	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	118577333	118577333	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr12:118577333G>A	ENST00000261313.2	+	3	675	c.323G>A	c.(322-324)gGc>gAc	p.G108D	PEBP1_ENST00000542939.1_3'UTR	NM_002567.2	NP_002558.1	P30086	PEBP1_HUMAN	phosphatidylethanolamine binding protein 1	108	Interaction with RAF1.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|serine-type endopeptidase inhibitor activity (GO:0004867)			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GATTATGTGGGCTCGGGGCCT	0.522																																					p.G108D	NSCLC(44;94 1357 12187 49467)	.											.	PEBP1-779	0			c.G323A						.						123.0	110.0	115.0					12																	118577333		2203	4300	6503	SO:0001583	missense	5037	exon3			ATGTGGGCTCGGG	X85033	CCDS9187.1	12q24	2009-06-16	2006-02-16	2006-02-16	ENSG00000089220	ENSG00000089220			8630	protein-coding gene	gene with protein product	"""Raf kinase inhibitory protein"", ""hippocampal cholinergic neurostimulating peptide"""	604591	"""prostatic binding protein"""	PBP		15782137	Standard	NM_002567		Approved	RKIP, HCNP, PEBP	uc001twu.1	P30086	OTTHUMG00000168860	ENST00000261313.2:c.323G>A	12.37:g.118577333G>A	ENSP00000261313:p.Gly108Asp	Somatic	193	0		WXS	Illumina HiSeq	Phase_I	249	101	NM_002567	0	1	252	755	502	B2R4S1	Missense_Mutation	SNP	ENST00000261313.2	37	CCDS9187.1	.	.	.	.	.	.	.	.	.	.	G	34	5.318256	0.95682	.	.	ENSG00000089220	ENST00000261313;ENST00000418769	T	0.56776	0.44	5.43	5.43	0.79202	.	0.047800	0.85682	D	0.000000	D	0.82751	0.5105	H	0.96805	3.885	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.85130	0.997;0.994	D	0.88070	0.2800	10	0.59425	D	0.04	.	19.2412	0.93883	0.0:0.0:1.0:0.0	.	108;108	B4DRT4;P30086	.;PEBP1_HUMAN	D	108	ENSP00000261313:G108D	ENSP00000261313:G108D	G	+	2	0	PEBP1	117061716	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.447000	0.97595	2.543000	0.85770	0.563000	0.77884	GGC	.		0.522	PEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401405.1	NM_002567	
STX2	2054	ucsc.edu	37	12	131280600	131280600	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr12:131280600C>A	ENST00000392373.2	-	10	946	c.852G>T	c.(850-852)ttG>ttT	p.L284F	STX2_ENST00000261653.6_Intron	NM_194356.2	NP_919337.1	P32856	STX2_HUMAN	syntaxin 2	284					acrosome reaction (GO:0007340)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|intracellular protein transport (GO:0006886)|organ morphogenesis (GO:0009887)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|signal transduction (GO:0007165)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)	calcium-dependent protein binding (GO:0048306)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		TGCCAACTGACAAGCCAATAA	0.393																																					p.L284F													.	STX2-90	0			c.G852T						.						165.0	146.0	152.0					12																	131280600		2203	4300	6503	SO:0001583	missense	2054	exon10			AACTGACAAGCCA	D14582	CCDS9269.1, CCDS9270.1	12q24	2008-02-05	2006-04-25	2006-04-25	ENSG00000111450	ENSG00000111450			3403	protein-coding gene	gene with protein product		132350	"""epimorphin"""	STX2B, STX2C, STX2A, EPIM		8938452, 15943887	Standard	NM_001980		Approved	EPM	uc001uio.4	P32856	OTTHUMG00000168365	ENST00000392373.2:c.852G>T	12.37:g.131280600C>A	ENSP00000376178:p.Leu284Phe	Somatic	171	41		WXS	Illumina HiSeq		229	64	NM_194356	0	0	4	4	0	Q86VW8	Missense_Mutation	SNP	ENST00000392373.2	37	CCDS9270.1	.	.	.	.	.	.	.	.	.	.	C	1.821	-0.472205	0.04445	.	.	ENSG00000111450	ENST00000392373	T	0.37584	1.19	4.88	-2.74	0.05932	.	0.329239	0.29126	N	0.013069	T	0.27663	0.0680	M	0.75447	2.3	0.49130	D	0.999758	B	0.25390	0.125	B	0.20184	0.028	T	0.28459	-1.0043	10	0.09843	T	0.71	-5.7483	7.3163	0.26503	0.0:0.4997:0.2737:0.2266	.	284	P32856	STX2_HUMAN	F	284	ENSP00000376178:L284F	ENSP00000376178:L284F	L	-	3	2	STX2	129846553	0.989000	0.36119	0.039000	0.18376	0.007000	0.05969	0.145000	0.16157	-0.821000	0.04312	-0.175000	0.13238	TTG	.		0.393	STX2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399455.2	NM_194356	
PARP4	143	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	25067776	25067776	+	Silent	SNP	T	T	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr13:25067776T>C	ENST00000381989.3	-	8	942	c.837A>G	c.(835-837)gaA>gaG	p.E279E		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	279	PARP alpha-helical. {ECO:0000255|PROSITE- ProRule:PRU00398}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GAAGCATGTGTTCCAGGTGGC	0.478																																					p.E279E		.											.	PARP4-94	0			c.A837G						.						122.0	99.0	107.0					13																	25067776		2203	4300	6503	SO:0001819	synonymous_variant	143	exon8			CATGTGTTCCAGG	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.837A>G	13.37:g.25067776T>C		Somatic	70	1		WXS	Illumina HiSeq	Phase_I	22	8	NM_006437	0	0	0	0	0	O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	37	CCDS9307.1																																																																																			.		0.478	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437	
ITM2B	9445	hgsc.bcm.edu	37	13	48830433	48830433	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr13:48830433G>C	ENST00000378565.5	+	3	570	c.367G>C	c.(367-369)Gaa>Caa	p.E123Q	ITM2B_ENST00000378549.5_Intron	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	123	Necessary for interaction with APP and inhibitor effects on APP processing.				extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|nervous system development (GO:0007399)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle membrane (GO:0030660)|integral component of organelle membrane (GO:0031301)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		TAAAATCTTTGAAGAAGAAGA	0.398																																					p.E123Q		.											.	ITM2B-90	0			c.G367C						.						81.0	82.0	82.0					13																	48830433		2203	4300	6503	SO:0001583	missense	9445	exon3			ATCTTTGAAGAAG	AF092128	CCDS9409.1	13q14.2	2012-10-10			ENSG00000136156	ENSG00000136156		"""BRICHOS domain containing"""	6174	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2B"""	603904				9795190	Standard	NM_021999		Approved	BRI, E25B, E3-16, BRICD2B	uc001vbz.3	Q9Y287	OTTHUMG00000016894	ENST00000378565.5:c.367G>C	13.37:g.48830433G>C	ENSP00000367828:p.Glu123Gln	Somatic	163	1		WXS	Illumina HiSeq	Phase_I	84	29	NM_021999	1	0	1522	1526	3	Q5W0A3|Q96B24|Q9NYH1	Missense_Mutation	SNP	ENST00000378565.5	37	CCDS9409.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.488250	0.44249	.	.	ENSG00000136156	ENST00000378565	T	0.33865	1.39	5.76	4.92	0.64577	.	0.090715	0.85682	D	0.000000	T	0.33760	0.0874	L	0.59436	1.845	0.80722	D	1	B	0.13594	0.008	B	0.17098	0.017	T	0.13019	-1.0525	10	0.12430	T	0.62	-16.1984	13.6725	0.62434	0.0737:0.0:0.9263:0.0	.	123	Q9Y287	ITM2B_HUMAN	Q	123	ENSP00000367828:E123Q	ENSP00000367828:E123Q	E	+	1	0	ITM2B	47728434	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.037000	0.64170	1.442000	0.47568	0.650000	0.86243	GAA	.		0.398	ITM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044870.3	NM_021999	
RNF31	55072	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	24617213	24617213	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr14:24617213C>G	ENST00000324103.6	+	2	541	c.221C>G	c.(220-222)aCg>aGg	p.T74R	PSME2_ENST00000471700.2_5'Flank|RNF31_ENST00000559275.1_5'UTR|RNF31_ENST00000382687.3_5'Flank|PSME2_ENST00000560410.1_5'Flank|PSME2_ENST00000216802.5_5'Flank|RNF31_ENST00000557878.1_3'UTR	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	74	Polyubiquitin-binding.				CD40 signaling pathway (GO:0023035)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		ACCCTGTCCACGGCTCTGAAC	0.607																																					p.T74R		.											.	RNF31-90	0			c.C221G						.						80.0	85.0	83.0					14																	24617213		2063	4198	6261	SO:0001583	missense	55072	exon2			TGTCCACGGCTCT	AK000973	CCDS41931.1	14q11.2	2012-09-20			ENSG00000092098	ENSG00000092098		"""RING-type (C3HC4) zinc fingers"""	16031	protein-coding gene	gene with protein product	"""HOIL-1-interacting protein"""	612487				10422847	Standard	NM_017999		Approved	ZIBRA, FLJ10111, FLJ23501, HOIP	uc001wmn.1	Q96EP0	OTTHUMG00000028798	ENST00000324103.6:c.221C>G	14.37:g.24617213C>G	ENSP00000315112:p.Thr74Arg	Somatic	127	0		WXS	Illumina HiSeq	Phase_I	176	55	NM_017999	0	0	1	2	1	A0A962|Q86VI2|Q8TEI0|Q96GB4|Q96NF1|Q9H5F1|Q9NWD2	Missense_Mutation	SNP	ENST00000324103.6	37	CCDS41931.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498171	0.85069	.	.	ENSG00000092098	ENST00000324103	T	0.47869	0.83	5.31	5.31	0.75309	PUB domain (1);	0.130527	0.51477	D	0.000093	T	0.61135	0.2323	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.55730	-0.8095	9	.	.	.	-13.9514	17.9131	0.88940	0.0:1.0:0.0:0.0	.	74	Q96EP0	RNF31_HUMAN	R	74	ENSP00000315112:T74R	.	T	+	2	0	RNF31	23687053	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.011000	0.64011	2.779000	0.95612	0.655000	0.94253	ACG	.		0.607	RNF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071921.3	NM_017999	
KIAA0391	9692	hgsc.bcm.edu	37	14	35593087	35593087	+	Silent	SNP	T	T	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr14:35593087T>C	ENST00000557565.1	+	2	1017	c.636T>C	c.(634-636)ggT>ggC	p.G212G	KIAA0391_ENST00000321130.10_Silent_p.G212G|KIAA0391_ENST00000603544.1_Silent_p.G212G|PPP2R3C_ENST00000261475.5_5'Flank|PPP2R3C_ENST00000555644.1_5'Flank|KIAA0391_ENST00000604948.1_Silent_p.G117G|KIAA0391_ENST00000534898.4_Silent_p.G212G|KIAA0391_ENST00000250377.7_Silent_p.G117G|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000605870.1_Intron	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	212					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		AACCTAGAGGTTACAGTCTTC	0.358																																					p.G212G		.											.	KIAA0391-226	0			c.T636C						.						49.0	50.0	49.0					14																	35593087		2203	4300	6503	SO:0001819	synonymous_variant	9692	exon2			TAGAGGTTACAGT	AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 3"", ""proteinaceous RNase P"""	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.636T>C	14.37:g.35593087T>C		Somatic	146	0		WXS	Illumina HiSeq	Phase_I	69	4	NM_014672	0	0	18	18	0	B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Silent	SNP	ENST00000557565.1	37	CCDS32063.1																																																																																			.		0.358	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000411280.1	NM_014672	
IRF2BPL	64207	ucsc.edu	37	14	77491938	77491938	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr14:77491938A>G	ENST00000238647.3	-	1	3096	c.2198T>C	c.(2197-2199)gTc>gCc	p.V733A		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	733					development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GTGGCTGGGGACGGAAGGGCA	0.572																																					p.V733A													.	IRF2BPL-90	0			c.T2198C						.						63.0	56.0	58.0					14																	77491938		2203	4300	6503	SO:0001583	missense	64207	exon1			CTGGGGACGGAAG	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.2198T>C	14.37:g.77491938A>G	ENSP00000238647:p.Val733Ala	Somatic	108	17		WXS	Illumina HiSeq		125	22	NM_024496	0	0	30	39	9	Q8NDQ2|Q96JG2|Q9H3I7	Missense_Mutation	SNP	ENST00000238647.3	37	CCDS9854.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.164966	0.78339	.	.	ENSG00000119669	ENST00000238647	T	0.68903	-0.36	4.64	4.64	0.57946	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.64402	U	0.000003	T	0.81588	0.4854	M	0.82823	2.61	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	D	0.84635	0.0692	10	0.72032	D	0.01	.	13.3656	0.60682	1.0:0.0:0.0:0.0	.	733	Q9H1B7	I2BPL_HUMAN	A	733	ENSP00000238647:V733A	ENSP00000238647:V733A	V	-	2	0	IRF2BPL	76561691	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	9.097000	0.94193	1.948000	0.56530	0.379000	0.24179	GTC	.		0.572	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496	
SERPINA1	5265	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	94849213	94849213	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr14:94849213T>G	ENST00000448921.1	-	4	934	c.362A>C	c.(361-363)cAg>cCg	p.Q121P	SERPINA1_ENST00000440909.1_Missense_Mutation_p.Q121P|SERPINA1_ENST00000449399.3_Missense_Mutation_p.Q121P|SERPINA1_ENST00000404814.4_Missense_Mutation_p.Q121P|SERPINA1_ENST00000393087.4_Missense_Mutation_p.Q121P|SERPINA1_ENST00000437397.1_Missense_Mutation_p.Q121P|SERPINA1_ENST00000402629.1_Missense_Mutation_p.Q121P|SERPINA1_ENST00000355814.4_Missense_Mutation_p.Q121P|SERPINA1_ENST00000393088.4_Missense_Mutation_p.Q121P|SERPINA1_ENST00000555289.1_5'Flank	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	121					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GAGGAGTTCCTGGAAGCCTTC	0.572																																					p.Q121P		.											.	SERPINA1-226	0			c.A362C						.						57.0	56.0	57.0					14																	94849213		2203	4300	6503	SO:0001583	missense	5265	exon4			AGTTCCTGGAAGC	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.362A>C	14.37:g.94849213T>G	ENSP00000416066:p.Gln121Pro	Somatic	101	0		WXS	Illumina HiSeq	Phase_I	122	29	NM_001127701	1	2	1426	2592	1163	A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Missense_Mutation	SNP	ENST00000448921.1	37	CCDS9925.1	.	.	.	.	.	.	.	.	.	.	T	14.75	2.629267	0.46944	.	.	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399;ENST00000402629;ENST00000554720;ENST00000556091;ENST00000557492	D;D;D;D;D;D;D;D;D;T;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-0.96;-1.72;-1.72	5.8	-0.59	0.11679	Serpin domain (3);	0.589490	0.16883	N	0.195601	D	0.91472	0.7308	M	0.90082	3.085	0.21020	N	0.999801	B;B	0.25486	0.127;0.091	B;B	0.41946	0.136;0.371	D	0.87168	0.2219	10	0.72032	D	0.01	.	7.1129	0.25401	0.0:0.3182:0.1125:0.5693	.	121;121	P01009-2;P01009	.;A1AT_HUMAN	P	121;121;121;121;121;121;121;121;121;35;121;121	ENSP00000390299:Q121P;ENSP00000416066:Q121P;ENSP00000408474:Q121P;ENSP00000348068:Q121P;ENSP00000376802:Q121P;ENSP00000376803:Q121P;ENSP00000385960:Q121P;ENSP00000416354:Q121P;ENSP00000386094:Q121P;ENSP00000450561:Q35P;ENSP00000452169:Q121P;ENSP00000452452:Q121P	ENSP00000348068:Q121P	Q	-	2	0	SERPINA1	93918966	0.002000	0.14202	0.075000	0.20258	0.907000	0.53573	-0.082000	0.11304	-0.099000	0.12263	-0.379000	0.06801	CAG	.		0.572	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235	
WDR20	91833	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	102675938	102675938	+	Silent	SNP	T	T	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr14:102675938T>C	ENST00000342702.3	+	3	1462	c.1431T>C	c.(1429-1431)gaT>gaC	p.D477D	WDR20_ENST00000424963.2_Silent_p.D353D|WDR20_ENST00000556511.2_Silent_p.D416D|WDR20_ENST00000499851.2_Silent_p.D220D|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000545563.1_Silent_p.D304D|WDR20_ENST00000556807.1_Silent_p.D416D|WDR20_ENST00000454394.2_Silent_p.D508D|WDR20_ENST00000335263.5_Silent_p.D477D	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	477										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						ACGAGAAAGATCACAAGCGAA	0.473											OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.D508D		.											.	WDR20-90	0			c.T1524C						.						114.0	105.0	108.0					14																	102675938		2203	4300	6503	SO:0001819	synonymous_variant	91833	exon4			GAAAGATCACAAG	BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"""WD repeat domain containing"""	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3		ENST00000342702.3:c.1431T>C	14.37:g.102675938T>C		Somatic	204	0	1368	WXS	Illumina HiSeq	Phase_I	239	78	NM_001242417	0	0	11	20	9	B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Silent	SNP	ENST00000342702.3	37	CCDS9969.1	.	.	.	.	.	.	.	.	.	.	T	3.721	-0.057478	0.07317	.	.	ENSG00000140153	ENST00000556511	.	.	.	5.73	-3.12	0.05282	.	.	.	.	.	T	0.63604	0.2525	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63093	-0.6714	4	.	.	.	.	14.198	0.65684	0.0:0.4331:0.0:0.5669	.	.	.	.	P	408	.	.	S	+	1	0	WDR20	101745691	0.985000	0.35326	0.982000	0.44146	0.999000	0.98932	0.241000	0.18065	-0.454000	0.07066	0.533000	0.62120	TCA	.		0.473	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414963.1	NM_181291	
PLCB2	5330	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	40590557	40590557	+	Missense_Mutation	SNP	G	G	A	rs201305253	byFrequency	TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr15:40590557G>A	ENST00000260402.3	-	11	1271	c.1022C>T	c.(1021-1023)tCg>tTg	p.S341L	PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Missense_Mutation_p.S341L|PLCB2_ENST00000456256.2_Missense_Mutation_p.S341L	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	341	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CATCTCAGCCGAGGAGAGGCC	0.627													G|||	2	0.000399361	0.0008	0.0	5008	,	,		20598	0.0		0.0	False		,,,				2504	0.001				p.S341L		.											.	PLCB2-275	0			c.C1022T						.						33.0	36.0	35.0					15																	40590557		2082	4236	6318	SO:0001583	missense	5330	exon11			TCAGCCGAGGAGA		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.1022C>T	15.37:g.40590557G>A	ENSP00000260402:p.Ser341Leu	Somatic	100	0		WXS	Illumina HiSeq	Phase_I	125	31	NM_004573	0	0	7	7	0	A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	G	32	5.183791	0.94885	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.59772	0.24;0.24	4.38	4.38	0.52667	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.136952	0.50627	D	0.000108	D	0.83151	0.5192	H	0.95712	3.71	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.952;0.997	D	0.88893	0.3347	10	0.87932	D	0	.	17.4798	0.87670	0.0:0.0:1.0:0.0	.	341;341;341	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	L	341	ENSP00000260402:S341L;ENSP00000411991:S341L	ENSP00000260402:S341L	S	-	2	0	PLCB2	38377849	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.438000	0.82558	0.563000	0.77884	TCG	G|0.999;A|0.001		0.627	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1		
ANKDD1A	348094	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	65239709	65239709	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr15:65239709G>T	ENST00000380230.3	+	13	1276	c.1247G>T	c.(1246-1248)tGg>tTg	p.W416L	ANKDD1A_ENST00000357698.3_Missense_Mutation_p.W384L|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.W416L|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.W293L	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	416	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						TCTGTGCTGTGGCGGCTGGCC	0.597																																					p.W416L		.											.	ANKDD1A-69	0			c.G1247T						.						45.0	40.0	42.0					15																	65239709		2202	4299	6501	SO:0001583	missense	348094	exon13			TGCTGTGGCGGCT		CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"""Ankyrin repeat domain containing"""	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.1247G>T	15.37:g.65239709G>T	ENSP00000369579:p.Trp416Leu	Somatic	53	0		WXS	Illumina HiSeq	Phase_I	65	22	NM_182703	0	0	0	0	0	Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	ENST00000380230.3	37	CCDS10197.2	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469077	0.84533	.	.	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000395723	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	4.63	4.63	0.57726	Death (1);DEATH-like (1);	0.000000	0.64402	D	0.000017	D	0.85758	0.5771	M	0.78637	2.42	0.80722	D	1	P	0.45283	0.855	P	0.48524	0.58	D	0.83545	0.0098	10	0.16420	T	0.52	-16.8697	16.2408	0.82408	0.0:0.0:1.0:0.0	.	416	Q495B1	AKD1A_HUMAN	L	416;384;416;293	ENSP00000369579:W416L;ENSP00000350329:W384L;ENSP00000379070:W416L;ENSP00000379073:W293L	ENSP00000350329:W384L	W	+	2	0	ANKDD1A	63026762	1.000000	0.71417	0.995000	0.50966	0.848000	0.48234	9.170000	0.94795	2.423000	0.82170	0.655000	0.94253	TGG	.		0.597	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703	
DENND4A	10260	hgsc.bcm.edu;broad.mit.edu	37	15	65989618	65989618	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr15:65989618A>T	ENST00000431932.2	-	20	3013	c.2805T>A	c.(2803-2805)agT>agA	p.S935R	snoU13_ENST00000459325.1_RNA|DENND4A_ENST00000443035.3_Missense_Mutation_p.S978R	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	935					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						AACTACAATCACTCCCTTTTT	0.303																																					p.S978R		.											.	DENND4A-229	0			c.T2934A						.						110.0	108.0	109.0					15																	65989618		1814	4062	5876	SO:0001583	missense	10260	exon21			ACAATCACTCCCT	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.2805T>A	15.37:g.65989618A>T	ENSP00000396830:p.Ser935Arg	Somatic	183	1		WXS	Illumina HiSeq	Phase_I	38	3	NM_001144823	0	0	0	0	0	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.157435	0.38119	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.05996	3.42;3.36	5.62	3.24	0.37175	.	1.083580	0.06784	N	0.785821	T	0.09862	0.0242	L	0.58101	1.795	0.53005	D	0.99996	P;B	0.37955	0.612;0.09	B;B	0.37943	0.261;0.05	T	0.14559	-1.0468	10	0.29301	T	0.29	.	9.6916	0.40131	0.8567:0.0:0.1433:0.0	.	978;935	E7EPL3;Q7Z401	.;MYCPP_HUMAN	R	978;935	ENSP00000391167:S978R;ENSP00000396830:S935R	ENSP00000396830:S935R	S	-	3	2	DENND4A	63776672	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	0.974000	0.29436	0.462000	0.27095	0.383000	0.25322	AGT	.		0.303	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848	
NEIL1	79661	broad.mit.edu	37	15	75646183	75646183	+	Silent	SNP	G	G	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr15:75646183G>A	ENST00000564784.1	+	7	1451	c.822G>A	c.(820-822)cgG>cgA	p.R274R	NEIL1_ENST00000569035.1_Silent_p.R274R|NEIL1_ENST00000355059.4_Silent_p.R274R|MIR631_ENST00000384904.1_RNA|RP11-817O13.6_ENST00000563660.1_lincRNA			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	274					base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)	p.R274R(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						TGCAGGACCGGCATGGCCGTA	0.617								Base excision repair (BER), DNA glycosylases																													p.R360R													.	NEIL1-659	1	Substitution - coding silent(1)	lung(1)	c.G1080A						.						82.0	86.0	85.0					15																	75646183		2197	4294	6491	SO:0001819	synonymous_variant	79661	exon6			GGACCGGCATGGC	AK026055	CCDS10278.1	15q33.33	2008-07-18			ENSG00000140398	ENSG00000140398			18448	protein-coding gene	gene with protein product		608844				11904416	Standard	NM_024608		Approved	FLJ22402, hFPG1, NEI1, FPG1	uc002bae.4	Q96FI4	OTTHUMG00000142821	ENST00000564784.1:c.822G>A	15.37:g.75646183G>A		Somatic	294	1		WXS	Illumina HiSeq	Phase_I	482	8	NM_001256552	0	0	23	23	0	D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	Silent	SNP	ENST00000564784.1	37	CCDS10278.1																																																																																			.		0.617	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419885.1	NM_024608	
FAM154B	283726	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	82574679	82574679	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr15:82574679A>C	ENST00000339465.5	+	3	542	c.473A>C	c.(472-474)cAt>cCt	p.H158P	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.H143P	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	158										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TATATACCTCATCAGCTTGAA	0.433																																					p.H158P		.											.	FAM154B-70	0			c.A473C						.						112.0	111.0	111.0					15																	82574679		2203	4300	6503	SO:0001583	missense	283726	exon3			TACCTCATCAGCT	AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.473A>C	15.37:g.82574679A>C	ENSP00000340445:p.His158Pro	Somatic	370	0		WXS	Illumina HiSeq	Phase_I	51	9	NM_001008226	0	0	0	0	0	B4E2M2	Missense_Mutation	SNP	ENST00000339465.5	37	CCDS32310.1	.	.	.	.	.	.	.	.	.	.	A	19.09	3.760509	0.69763	.	.	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.14391	2.51;2.51	3.9	3.9	0.45041	.	0.144157	0.45126	D	0.000381	T	0.35219	0.0924	M	0.77103	2.36	0.51012	D	0.999907	D;D	0.67145	0.996;0.992	D;D	0.69824	0.966;0.953	T	0.12142	-1.0559	10	0.37606	T	0.19	-13.415	13.1531	0.59500	1.0:0.0:0.0:0.0	.	143;158	B4E2M2;Q658L1	.;F154B_HUMAN	P	158;143	ENSP00000340445:H158P;ENSP00000403743:H143P	ENSP00000340445:H158P	H	+	2	0	FAM154B	80361734	0.998000	0.40836	0.633000	0.29310	0.980000	0.70556	4.775000	0.62346	1.751000	0.51876	0.438000	0.28831	CAT	.		0.433	FAM154B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419644.1	NM_001008226	
IFT140	9742	broad.mit.edu	37	16	1574816	1574816	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr16:1574816C>T	ENST00000426508.2	-	23	3329	c.2966G>A	c.(2965-2967)cGc>cAc	p.R989H	IFT140_ENST00000361339.5_Missense_Mutation_p.R183H	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	989					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GCAGTGGATGCGGACCAGGGA	0.662																																					p.R989H													.	IFT140-95	0			c.G2966A						.						55.0	65.0	62.0					16																	1574816		2199	4300	6499	SO:0001583	missense	9742	exon23			TGGATGCGGACCA	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.2966G>A	16.37:g.1574816C>T	ENSP00000406012:p.Arg989His	Somatic	152	0		WXS	Illumina HiSeq	Phase_I	288	6	NM_014714	0	0	11	11	0	A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	35	5.435616	0.96150	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.56275	0.47;0.47	5.53	4.56	0.56223	.	0.062488	0.64402	N	0.000003	T	0.77294	0.4109	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.82317	-0.0517	10	0.56958	D	0.05	.	15.571	0.76337	0.1388:0.8612:0.0:0.0	.	989;676	Q96RY7;B4DR58	IF140_HUMAN;.	H	989;183;989	ENSP00000354895:R183H;ENSP00000406012:R989H	ENSP00000354895:R183H	R	-	2	0	IFT140	1514817	1.000000	0.71417	0.807000	0.32361	0.963000	0.63663	7.755000	0.85180	1.291000	0.44653	0.655000	0.94253	CGC	.		0.662	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714	
PALB2	79728	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	23646407	23646407	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr16:23646407A>T	ENST00000261584.4	-	4	1612	c.1460T>A	c.(1459-1461)gTc>gAc	p.V487D		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	487	DNA-binding (with the preference D loop > dsDNA > ssDNA).				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GGGAGAGCTGACTTTAGTTAA	0.458			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																													p.V487D		.	yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	partner and localizer of BRCA2		"""L, O, E"""	.	PALB2-1351	0			c.T1460A						.						131.0	131.0	131.0					16																	23646407		2197	4300	6497	SO:0001583	missense	79728	exon4			GAGCTGACTTTAG		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.1460T>A	16.37:g.23646407A>T	ENSP00000261584:p.Val487Asp	Somatic	403	0		WXS	Illumina HiSeq	Phase_I	179	89	NM_024675	0	0	0	0	0	A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	A	10.89	1.479867	0.26511	.	.	ENSG00000083093	ENST00000261584	T	0.15603	2.41	5.67	1.89	0.25635	.	0.327339	0.25935	N	0.027358	T	0.28267	0.0698	M	0.63428	1.95	0.19775	N	0.999954	D	0.67145	0.996	P	0.62298	0.9	T	0.04693	-1.0933	10	0.59425	D	0.04	-1.5018	4.5066	0.11891	0.6154:0.2179:0.1667:0.0	.	487	Q86YC2	PALB2_HUMAN	D	487	ENSP00000261584:V487D	ENSP00000261584:V487D	V	-	2	0	PALB2	23553908	0.059000	0.20769	0.013000	0.15412	0.188000	0.23474	1.278000	0.33179	0.529000	0.28599	0.533000	0.62120	GTC	.		0.458	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675	
RNF40	9810	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	30776526	30776526	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr16:30776526A>T	ENST00000324685.6	+	7	1231	c.796A>T	c.(796-798)Aca>Tca	p.T266S	RNF40_ENST00000357890.5_Missense_Mutation_p.T266S|RNF40_ENST00000402121.3_Intron|RNF40_ENST00000563683.1_Missense_Mutation_p.T266S|C16orf93_ENST00000543610.1_5'Flank	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	266					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GGATAAAGTGACATCGGCAGA	0.537																																					p.T266S		.											.	RNF40-226	0			c.A796T						.						91.0	89.0	90.0					16																	30776526		2197	4300	6497	SO:0001583	missense	9810	exon7			AAAGTGACATCGG	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.796A>T	16.37:g.30776526A>T	ENSP00000325677:p.Thr266Ser	Somatic	159	2		WXS	Illumina HiSeq	Phase_I	311	86	NM_014771	0	0	4	4	0	Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.662367	0.88251	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000452273	T;T	0.33438	1.58;1.41	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.56485	0.1988	M	0.78049	2.395	0.80722	D	1	D;P;P	0.67145	0.996;0.653;0.952	D;B;P	0.73380	0.98;0.392;0.558	T	0.58205	-0.7677	10	0.46703	T	0.11	-14.0565	15.105	0.72315	1.0:0.0:0.0:0.0	.	266;266;266	O75150-4;A8K6K1;O75150	.;.;BRE1B_HUMAN	S	266;266;115	ENSP00000325677:T266S;ENSP00000350563:T266S	ENSP00000325677:T266S	T	+	1	0	RNF40	30684027	1.000000	0.71417	0.978000	0.43139	0.905000	0.53344	4.839000	0.62810	2.208000	0.71279	0.533000	0.62120	ACA	.		0.537	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771	
CYB5D1	124637	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	7762716	7762716	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr17:7762716C>T	ENST00000332439.4	+	4	625	c.473C>T	c.(472-474)tCc>tTc	p.S158F	LSMD1_ENST00000335155.5_5'Flank|LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000576384.1_5'Flank|LSMD1_ENST00000575771.1_5'Flank|LSMD1_ENST00000333775.5_5'Flank|LSMD1_ENST00000575071.1_5'Flank|LSMD1_ENST00000570555.1_Intron|CYB5D1_ENST00000570446.1_Missense_Mutation_p.S30F|CYB5D1_ENST00000571846.1_Intron|LSMD1_ENST00000575208.1_5'Flank	NM_144607.4	NP_653208.2	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	158							heme binding (GO:0020037)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|skin(2)	6		all_cancers(10;0.11)|Prostate(122;0.219)				GTTCTGGAGTCCATATGGGAA	0.502																																					p.S158F		.											.	CYB5D1-91	0			c.C473T						.						47.0	45.0	46.0					17																	7762716		2203	4300	6503	SO:0001583	missense	124637	exon4			TGGAGTCCATATG	AK057061	CCDS11123.1	17p13.1	2006-01-12	2006-01-12						26516	protein-coding gene	gene with protein product						12477932	Standard	NM_144607		Approved	FLJ32499	uc002gjb.4	Q6P9G0		ENST00000332439.4:c.473C>T	17.37:g.7762716C>T	ENSP00000331479:p.Ser158Phe	Somatic	107	0		WXS	Illumina HiSeq	Phase_I	111	24	NM_144607	0	0	3	4	1	D3DTQ8|Q96DM7	Missense_Mutation	SNP	ENST00000332439.4	37	CCDS11123.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968751	0.74131	.	.	ENSG00000182224	ENST00000332439	T	0.45668	0.89	5.27	5.27	0.74061	.	0.155423	0.42821	D	0.000659	T	0.40372	0.1114	M	0.64997	1.995	0.50467	D	0.999875	B	0.31910	0.346	B	0.26864	0.074	T	0.42447	-0.9451	10	0.72032	D	0.01	-23.6807	13.3117	0.60384	0.1589:0.841:0.0:0.0	.	158	Q6P9G0	CB5D1_HUMAN	F	158	ENSP00000331479:S158F	ENSP00000331479:S158F	S	+	2	0	CYB5D1	7703441	0.999000	0.42202	0.979000	0.43373	0.882000	0.50991	4.339000	0.59322	2.449000	0.82847	0.462000	0.41574	TCC	.		0.502	CYB5D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440841.1	NM_144607	
TVP23C	201158	ucsc.edu	37	17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.	0			c.G152A						.						274.0	265.0	268.0					17																	15457087		2203	4300	6503	SO:0001583	missense	201158	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr	Somatic	823	112		WXS	Illumina HiSeq		1062	166	NM_145301	0	0	1	4	3	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT	.		0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301	
ERBB2	2064	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	37876080	37876080	+	Silent	SNP	A	A	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr17:37876080A>C	ENST00000269571.5	+	16	2098	c.1939A>C	c.(1939-1941)Aga>Cga	p.R647R	ERBB2_ENST00000541774.1_Silent_p.R632R|ERBB2_ENST00000445658.2_Silent_p.R371R|ERBB2_ENST00000406381.2_Silent_p.R617R|ERBB2_ENST00000540147.1_Silent_p.R617R|ERBB2_ENST00000584450.1_Silent_p.R647R|ERBB2_ENST00000584601.1_Silent_p.R617R			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	647					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CGCCGAGCAGAGAGCCAGGTT	0.597		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																											p.R647R		.		Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	.	ERBB2-9959	0			c.A1939C						.						153.0	131.0	138.0					17																	37876080		2203	4300	6503	SO:0001819	synonymous_variant	2064	exon16			GAGCAGAGAGCCA	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.1939A>C	17.37:g.37876080A>C		Somatic	243	0		WXS	Illumina HiSeq	Phase_I	471	93	NM_004448	0	0	0	0	0	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	ENST00000269571.5	37	CCDS32642.1																																																																																			.		0.597	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2		
PLEKHH3	79990	broad.mit.edu	37	17	40822333	40822333	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr17:40822333G>A	ENST00000591022.1	-	11	2003	c.1616C>T	c.(1615-1617)gCg>gTg	p.A539V	PLEKHH3_ENST00000293349.6_Missense_Mutation_p.A536V|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Intron	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	539	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GCGCAGCGCCGCCAGGGCGCG	0.791																																					p.A539V													.	PLEKHH3-158	0			c.C1616T						.						2.0	2.0	2.0					17																	40822333		876	2032	2908	SO:0001583	missense	79990	exon11			AGCGCCGCCAGGG	BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.1616C>T	17.37:g.40822333G>A	ENSP00000468678:p.Ala539Val	Somatic	12	0		WXS	Illumina HiSeq	Phase_I	6	3	NM_024927	0	0	0	4	4	C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	Missense_Mutation	SNP	ENST00000591022.1	37	CCDS11434.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167754	0.78339	.	.	ENSG00000068137	ENST00000456950;ENST00000293349	.	.	.	4.35	2.36	0.29203	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);	0.577393	0.15545	N	0.256730	T	0.49321	0.1550	M	0.66297	2.02	0.80722	D	1	P;B	0.39624	0.681;0.206	B;B	0.29440	0.102;0.022	T	0.51585	-0.8687	9	0.66056	D	0.02	-11.77	10.2113	0.43143	0.1483:0.0:0.8517:0.0	.	536;539	Q7Z736-2;Q7Z736	.;PKHH3_HUMAN	V	198;539	.	ENSP00000293349:A539V	A	-	2	0	PLEKHH3	38075859	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	5.679000	0.68160	0.476000	0.27440	0.555000	0.69702	GCG	.		0.791	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452332.1	NM_024927	
ATXN7L3	56970	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	42275086	42275086	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr17:42275086C>A	ENST00000454077.2	-	2	63	c.64G>T	c.(64-66)Gag>Tag	p.E22*	ATXN7L3_ENST00000593073.1_Intron|CTB-175E5.7_ENST00000586560.1_RNA|ATXN7L3_ENST00000389384.4_Nonsense_Mutation_p.E22*	NM_020218.1	NP_064603.1			ataxin 7-like 3											kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCGTATATCTCCTGAGCGATG	0.577																																					p.E22X		.											.	ATXN7L3-68	0			c.G64T						.						96.0	95.0	96.0					17																	42275086		1985	4163	6148	SO:0001587	stop_gained	56970	exon2			ATATCTCCTGAGC	AK056002	CCDS42345.1, CCDS45697.1	17q21	2010-03-10			ENSG00000087152	ENSG00000087152			25416	protein-coding gene	gene with protein product						15115762	Standard	NM_001098833		Approved	DKFZp761G2113	uc002ifz.3	Q14CW9		ENST00000454077.2:c.64G>T	17.37:g.42275086C>A	ENSP00000397259:p.Glu22*	Somatic	159	0		WXS	Illumina HiSeq	Phase_I	328	58	NM_020218	0	0	0	0	0		Nonsense_Mutation	SNP	ENST00000454077.2	37	CCDS45697.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456493	0.63401	.	.	ENSG00000087152	ENST00000454077;ENST00000389384	.	.	.	4.47	4.47	0.54385	.	0.064498	0.64402	U	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	14.0541	0.64756	0.0:1.0:0.0:0.0	.	.	.	.	X	22	.	ENSP00000374035:E22X	E	-	1	0	ATXN7L3	39630612	1.000000	0.71417	1.000000	0.80357	0.174000	0.22865	7.490000	0.81461	2.010000	0.58986	0.655000	0.94253	GAG	.		0.577	ATXN7L3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457724.1		
TTLL6	284076	broad.mit.edu	37	17	46865176	46865176	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr17:46865176G>A	ENST00000393382.3	-	11	1727	c.1586C>T	c.(1585-1587)gCc>gTc	p.A529V	TTLL6_ENST00000433608.2_Missense_Mutation_p.A222V	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TTCCTACCGGGCATACTCCTC	0.537																																					p.A529V													.	TTLL6-90	0			c.C1586T						.						79.0	79.0	79.0					17																	46865176		2203	4300	6503	SO:0001583	missense	284076	exon11			TACCGGGCATACT	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1586C>T	17.37:g.46865176G>A	ENSP00000377043:p.Ala529Val	Somatic	230	0		WXS	Illumina HiSeq	Phase_I	476	6	NM_001130918	0	0	0	0	0		Missense_Mutation	SNP	ENST00000393382.3	37	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	G	35	5.462977	0.96257	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	5.38	5.38	0.77491	.	6.121500	0.01008	U	0.003785	D	0.82522	0.5055	M	0.79475	2.455	0.48571	D	0.999675	D;D;D	0.69078	0.99;0.967;0.997	P;P;P	0.60682	0.743;0.792;0.878	T	0.67998	-0.5525	9	0.72032	D	0.01	.	18.3115	0.90201	0.0:0.0:1.0:0.0	.	481;282;222	Q8N841;D3DTW0;G5E937	TTLL6_HUMAN;.;.	V	529;222;207;481	.	ENSP00000302547:A222V	A	-	2	0	TTLL6	44220175	1.000000	0.71417	0.971000	0.41717	0.954000	0.61252	9.381000	0.97205	2.694000	0.91930	0.555000	0.69702	GCC	.		0.537	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623	
SPATA20	64847	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	48628196	48628196	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr17:48628196G>C	ENST00000356488.4	+	10	1336	c.1253G>C	c.(1252-1254)gGt>gCt	p.G418A	SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000006658.6_Missense_Mutation_p.G434A|SPATA20_ENST00000393244.3_Missense_Mutation_p.G374A	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	418					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CCTGTGTTGGGTGCCACCGAG	0.642											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G434A		.											.	SPATA20-90	0			c.G1301C						.						64.0	74.0	70.0					17																	48628196		2203	4298	6501	SO:0001583	missense	64847	exon11			TGTTGGGTGCCAC		CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"""hypothetical protein FLJ21347"""	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.1253G>C	17.37:g.48628196G>C	ENSP00000348878:p.Gly418Ala	Somatic	208	2	119	WXS	Illumina HiSeq	Phase_I	347	62	NM_022827	0	0	36	53	17	Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	ENST00000356488.4	37	CCDS58563.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475913	0.26511	.	.	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	T;T;T	0.25912	1.77;1.79;1.81	5.64	3.66	0.41972	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.100427	0.64402	D	0.000002	T	0.19446	0.0467	L	0.34521	1.04	0.49213	D	0.99976	B;B	0.31879	0.344;0.281	B;B	0.33339	0.112;0.162	T	0.05886	-1.0858	10	0.56958	D	0.05	-13.2905	9.0573	0.36414	0.2195:0.0:0.7805:0.0	.	418;434	Q8TB22;Q8TB22-2	SPT20_HUMAN;.	A	434;418;374	ENSP00000006658:G434A;ENSP00000348878:G418A;ENSP00000376935:G374A	ENSP00000006658:G434A	G	+	2	0	SPATA20	45983195	1.000000	0.71417	0.029000	0.17559	0.008000	0.06430	4.956000	0.63645	1.395000	0.46643	0.655000	0.94253	GGT	.		0.642	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827	
ABCA6	23460	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	67108373	67108373	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr17:67108373C>T	ENST00000284425.2	-	16	2257	c.2083G>A	c.(2083-2085)Ggt>Agt	p.G695S		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	695	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATAGAAGAACCTGCACACTTC	0.368																																					p.G695S		.											.	ABCA6-159	0			c.G2083A						.						156.0	164.0	162.0					17																	67108373		2203	4300	6503	SO:0001583	missense	23460	exon16			AAGAACCTGCACA	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.2083G>A	17.37:g.67108373C>T	ENSP00000284425:p.Gly695Ser	Somatic	548	0		WXS	Illumina HiSeq	Phase_I	63	28	NM_080284	0	0	2	2	0	Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599754	0.87055	.	.	ENSG00000154262	ENST00000284425	T	0.80393	-1.37	4.65	4.65	0.58169	ABC transporter-like (1);	0.116516	0.38058	N	0.001826	D	0.94308	0.8171	H	0.99261	4.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96675	0.9499	10	0.87932	D	0	.	17.0385	0.86483	0.0:1.0:0.0:0.0	.	695	Q8N139	ABCA6_HUMAN	S	695	ENSP00000284425:G695S	ENSP00000284425:G695S	G	-	1	0	ABCA6	64619968	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	6.512000	0.73737	2.568000	0.86640	0.655000	0.94253	GGT	.		0.368	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	
TMEM104	54868	broad.mit.edu	37	17	72832672	72832672	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr17:72832672G>A	ENST00000335464.5	+	10	1499	c.1337G>A	c.(1336-1338)cGc>cAc	p.R446H	TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.R446H|TMEM104_ENST00000582773.1_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	446						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					TACCACTGCCGCAGGGACACC	0.647																																					p.R446H													.	TMEM104-90	0			c.G1337A						.						56.0	46.0	50.0					17																	72832672		2203	4300	6503	SO:0001583	missense	54868	exon10			ACTGCCGCAGGGA	AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.1337G>A	17.37:g.72832672G>A	ENSP00000334849:p.Arg446His	Somatic	106	0		WXS	Illumina HiSeq	Phase_I	207	5	NM_017728	0	0	2	2	0	Q8TEU1|Q9NT56|Q9NXH1	Missense_Mutation	SNP	ENST00000335464.5	37	CCDS32723.1	.	.	.	.	.	.	.	.	.	.	G	32	5.128714	0.94473	.	.	ENSG00000109066	ENST00000335464	T	0.56444	0.46	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.78717	0.4327	M	0.90019	3.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82438	-0.0457	10	0.56958	D	0.05	-31.4614	19.021	0.92916	0.0:0.0:1.0:0.0	.	446	Q8NE00	TM104_HUMAN	H	446	ENSP00000334849:R446H	ENSP00000334849:R446H	R	+	2	0	TMEM104	70344267	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.355000	0.97087	2.584000	0.87258	0.462000	0.41574	CGC	.		0.647	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1	NM_017728	
DNAH17	8632	hgsc.bcm.edu;broad.mit.edu	37	17	76445563	76445563	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr17:76445563T>C	ENST00000585328.1	-	69	11253	c.11129A>G	c.(11128-11130)tAc>tGc	p.Y3710C	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.Y3701C	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3701					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGTGTACATGTAGACGGAGTA	0.532																																					p.Y3715C		.											.	DNAH17-142	0			c.A11144G						.						125.0	92.0	103.0					17																	76445563		2203	4296	6499	SO:0001583	missense	8632	exon69			TACATGTAGACGG	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.11129A>G	17.37:g.76445563T>C	ENSP00000465516:p.Tyr3710Cys	Somatic	13	0		WXS	Illumina HiSeq	Phase_I	34	5	NM_173628	0	0	0	0	0	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	T	13.95	2.390270	0.42410	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.72051	-0.62	4.7	-3.01	0.05463	.	0.381500	0.21964	N	0.066560	T	0.78477	0.4289	H	0.97265	3.97	0.38101	D	0.937258	B	0.15719	0.014	B	0.19946	0.027	T	0.77397	-0.2603	10	0.66056	D	0.02	.	13.6553	0.62336	0.7125:0.0:0.0:0.2875	.	3710	E7EUM8	.	C	3710;3701	ENSP00000374490:Y3701C	ENSP00000300671:Y3710C	Y	-	2	0	DNAH17	73957158	1.000000	0.71417	0.982000	0.44146	0.979000	0.70002	1.592000	0.36676	-0.130000	0.11599	0.459000	0.35465	TAC	.		0.532	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628	
TAF4B	6875	broad.mit.edu	37	18	23969874	23969874	+	Silent	SNP	T	T	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr18:23969874T>C	ENST00000269142.5	+	15	3485	c.2487T>C	c.(2485-2487)cgT>cgC	p.R829R	TAF4B_ENST00000578121.1_Silent_p.R834R	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	829					gene expression (GO:0010467)|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)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			AGTTGCATCGTCCAAGAATCA	0.423																																					p.R829R													.	TAF4B-71	0			c.T2487C						.						114.0	110.0	111.0					18																	23969874		1901	4125	6026	SO:0001819	synonymous_variant	6875	exon15			GCATCGTCCAAGA	Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.2487T>C	18.37:g.23969874T>C		Somatic	272	0		WXS	Illumina HiSeq	Phase_I	108	3	NM_005640	0	0	1	1	0	Q29YA4|Q29YA5	Silent	SNP	ENST00000269142.5	37	CCDS42421.1																																																																																			.		0.423	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640	
ZNF271	10778	ucsc.edu	37	18	32886653	32886653	+	RNA	SNP	G	G	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr18:32886653G>A	ENST00000399070.3	+	0	1047					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(9)	12						TCCATACTGGGGAGAAACCAT	0.403																																					.													.	ZNF271-90	0			.						.						64.0	67.0	66.0					18																	32886653		2203	4300	6503			10778	.			TACTGGGGAGAAA	X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32886653G>A		Somatic	135	0		WXS	Illumina HiSeq		29	1	.	0	0	5	5	0	B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	RNA	SNP	ENST00000399070.3	37																																																																																				.		0.403	ZNF271-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255767.2	NR_024565	
ACSBG2	81616	hgsc.bcm.edu;broad.mit.edu	37	19	6177251	6177251	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr19:6177251T>G	ENST00000586696.1	+	8	1026	c.750T>G	c.(748-750)atT>atG	p.I250M	ACSBG2_ENST00000588304.1_Missense_Mutation_p.I200M|ACSBG2_ENST00000591403.1_Missense_Mutation_p.I250M|ACSBG2_ENST00000588485.1_Missense_Mutation_p.I63M|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000252669.5_Missense_Mutation_p.I250M			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	250					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.I250M(3)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCACGTGGATTGCAGGAGCAG	0.433																																					p.I250M		.											.	ACSBG2-23	3	Substitution - Missense(3)	endometrium(2)|kidney(1)	c.T750G						.						97.0	69.0	78.0					19																	6177251		2203	4300	6503	SO:0001583	missense	81616	exon8			GTGGATTGCAGGA		CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.750T>G	19.37:g.6177251T>G	ENSP00000465589:p.Ile250Met	Somatic	76	0		WXS	Illumina HiSeq	Phase_I	72	5	NM_030924	0	0	0	0	0	B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	ENST00000586696.1	37	CCDS12159.1	.	.	.	.	.	.	.	.	.	.	T	8.593	0.885063	0.17540	.	.	ENSG00000130377	ENST00000252669	T	0.10477	2.87	4.48	-8.78	0.00824	AMP-dependent synthetase/ligase (1);	1.500690	0.04439	N	0.370611	T	0.03564	0.0102	N	0.03154	-0.405	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.16722	0.016;0.007	T	0.41124	-0.9526	10	0.49607	T	0.09	-6.8573	2.6506	0.04998	0.499:0.0951:0.1226:0.2833	.	250;250	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	M	250	ENSP00000252669:I250M	ENSP00000252669:I250M	I	+	3	3	ACSBG2	6128251	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-3.884000	0.00342	-1.157000	0.02815	-0.778000	0.03378	ATT	.		0.433	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924	
PRKCSH	5589	hgsc.bcm.edu	37	19	11558373	11558373	+	Silent	SNP	A	A	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr19:11558373A>G	ENST00000589838.1	+	10	969	c.969A>G	c.(967-969)gaA>gaG	p.E323E	PRKCSH_ENST00000587327.1_Silent_p.E323E|PRKCSH_ENST00000591462.1_Silent_p.E323E|PRKCSH_ENST00000252455.2_Silent_p.E323E|PRKCSH_ENST00000592741.1_Silent_p.E323E|PRKCSH_ENST00000412601.1_Silent_p.E323E			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	323	Glu-rich (acidic).				cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						aggaggaggaagaagaggctg	0.642																																					p.E323E		.											.	PRKCSH-90	0			c.A969G						.																																			SO:0001819	synonymous_variant	5589	exon11			GGAGGAAGAAGAG		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"""EF-hand domain containing"""	9411	protein-coding gene	gene with protein product		177060	"""polycystic liver disease"""	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.969A>G	19.37:g.11558373A>G		Somatic	43	0		WXS	Illumina HiSeq	Phase_I	52	5	NM_001001329	0	0	9	9	0	A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	37	CCDS32911.1																																																																																			.		0.642	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1		
MAU2	23383	broad.mit.edu	37	19	19454740	19454740	+	Silent	SNP	G	G	A	rs369999842		TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr19:19454740G>A	ENST00000392313.6	+	10	1247	c.1068G>A	c.(1066-1068)gcG>gcA	p.A356A	MAU2_ENST00000262815.8_Silent_p.A356A	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	356					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						AGGCCACGGCGCTGCAGGAGG	0.582																																					p.A356A													.	MAU2-91	0			c.G1068A						.						58.0	58.0	58.0					19																	19454740		2084	4214	6298	SO:0001819	synonymous_variant	23383	exon10			CACGGCGCTGCAG	AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"""sister chromatid cohesion 4"""	614560	"""KIAA0892"", ""MAU2 chromatid cohesion factor homolog (C. elegans)"""	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1068G>A	19.37:g.19454740G>A		Somatic	134	0		WXS	Illumina HiSeq	Phase_I	247	5	NM_015329	0	0	0	0	0	Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Silent	SNP	ENST00000392313.6	37	CCDS32969.2																																																																																			.		0.582	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329	
ZNF14	7561	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	19823080	19823080	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr19:19823080C>A	ENST00000344099.3	-	4	1148	c.1010G>T	c.(1009-1011)tGt>tTt	p.C337F		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	337					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				ACATTCTTTACATTTATAAGG	0.378																																					p.C337F		.											.	ZNF14-517	0			c.G1010T						.						54.0	54.0	54.0					19																	19823080		2203	4300	6503	SO:0001583	missense	7561	exon4			TCTTTACATTTAT	AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1010G>T	19.37:g.19823080C>A	ENSP00000340514:p.Cys337Phe	Somatic	202	1		WXS	Illumina HiSeq	Phase_I	39	13	NM_021030	0	0	0	0	0	B9EGA4|Q9ULZ5	Missense_Mutation	SNP	ENST00000344099.3	37	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643725	0.67244	.	.	ENSG00000105708	ENST00000344099	D	0.85088	-1.94	1.8	1.8	0.24995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92397	0.7587	M	0.90705	3.14	0.30395	N	0.780618	D	0.89917	1.0	D	0.97110	1.0	D	0.87222	0.2254	9	0.87932	D	0	.	9.1514	0.36965	0.0:1.0:0.0:0.0	.	337	P17017	ZNF14_HUMAN	F	337	ENSP00000340514:C337F	ENSP00000340514:C337F	C	-	2	0	ZNF14	19684080	0.951000	0.32395	0.168000	0.22838	0.635000	0.38103	3.634000	0.54302	0.977000	0.38444	0.467000	0.42956	TGT	.		0.378	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030	
ATP4A	495	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	36050918	36050918	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr19:36050918G>T	ENST00000262623.3	-	7	873	c.845C>A	c.(844-846)gCa>gAa	p.A282E		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	282					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CGCCAGCGATGCGATGCGCCC	0.647																																					p.A282E		.											.	ATP4A-91	0			c.C845A						.						96.0	73.0	81.0					19																	36050918		2203	4300	6503	SO:0001583	missense	495	exon7			AGCGATGCGATGC		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.845C>A	19.37:g.36050918G>T	ENSP00000262623:p.Ala282Glu	Somatic	167	0		WXS	Illumina HiSeq	Phase_I	257	72	NM_000704	0	0	0	0	0	O00738	Missense_Mutation	SNP	ENST00000262623.3	37	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140434	0.56936	.	.	ENSG00000105675	ENST00000262623	D	0.92495	-3.05	3.94	3.94	0.45596	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.077790	0.48767	D	0.000178	D	0.96324	0.8801	M	0.91920	3.255	0.80722	D	1	D	0.57899	0.981	D	0.66196	0.942	D	0.97050	0.9763	10	0.87932	D	0	.	13.8309	0.63380	0.0:0.0:1.0:0.0	.	282	P20648	ATP4A_HUMAN	E	282	ENSP00000262623:A282E	ENSP00000262623:A282E	A	-	2	0	ATP4A	40742758	1.000000	0.71417	0.276000	0.24689	0.038000	0.13279	9.600000	0.98282	2.203000	0.70933	0.561000	0.74099	GCA	.		0.647	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704	
CAPN13	92291	hgsc.bcm.edu	37	2	30955349	30955349	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr2:30955349A>T	ENST00000295055.8	-	20	2058	c.1882T>A	c.(1882-1884)Ttc>Atc	p.F628I	CAPN13_ENST00000534090.2_Missense_Mutation_p.F628I	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	628					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AGGCTGGGGAAGCTGACCCTG	0.597																																					p.F628I		.											.	CAPN13-136	0			c.T1882A						.						27.0	31.0	30.0					2																	30955349		2106	4221	6327	SO:0001583	missense	92291	exon20			TGGGGAAGCTGAC		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1882T>A	2.37:g.30955349A>T	ENSP00000295055:p.Phe628Ile	Somatic	33	0		WXS	Illumina HiSeq	Phase_I	52	13	NM_144575	0	0	0	0	0	Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	a	26.8	4.772877	0.90108	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	T;T	0.35789	1.29;1.29	5.5	5.5	0.81552	EF-hand-like domain (1);	0.051382	0.85682	D	0.000000	T	0.63414	0.2509	M	0.87038	2.855	0.43787	D	0.996328	D	0.89917	1.0	D	0.68621	0.959	T	0.70539	-0.4844	10	0.87932	D	0	.	13.1283	0.59368	1.0:0.0:0.0:0.0	.	628	Q6MZZ7	CAN13_HUMAN	I	628	ENSP00000295055:F628I;ENSP00000431298:F628I	ENSP00000295055:F628I	F	-	1	0	CAPN13	30808853	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.047000	0.64232	2.094000	0.63399	0.529000	0.55759	TTC	.		0.597	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575	
EIF5B	9669	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	99995867	99995867	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr2:99995867T>G	ENST00000289371.6	+	12	2239	c.2037T>G	c.(2035-2037)aaT>aaG	p.N679K		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	679	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAGCTATTAATGAACAGACTA	0.343																																					p.N679K	Colon(162;2388 2567 2705 3444)	.											.	EIF5B-93	0			c.T2037G						.						98.0	87.0	91.0					2																	99995867		1852	4096	5948	SO:0001583	missense	9669	exon12			TATTAATGAACAG	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.2037T>G	2.37:g.99995867T>G	ENSP00000289371:p.Asn679Lys	Somatic	90	0		WXS	Illumina HiSeq	Phase_I	10	4	NM_015904	0	0	23	39	16	O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	ENST00000289371.6	37	CCDS42721.1	.	.	.	.	.	.	.	.	.	.	T	4.740	0.137561	0.09032	.	.	ENSG00000158417	ENST00000289371	T	0.69806	-0.43	5.63	4.49	0.54785	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	.	.	.	.	T	0.23766	0.0575	N	0.00182	-1.905	0.41010	D	0.984993	B	0.15473	0.013	B	0.17098	0.017	T	0.32161	-0.9917	8	.	.	.	-40.5882	5.3022	0.15783	0.1361:0.1354:0.0:0.7285	.	679	O60841	IF2P_HUMAN	K	679	ENSP00000289371:N679K	.	N	+	3	2	EIF5B	99362299	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.657000	0.24963	2.149000	0.67028	0.260000	0.18958	AAT	.		0.343	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904	
COL5A2	1290	hgsc.bcm.edu	37	2	189912941	189912941	+	Silent	SNP	T	T	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr2:189912941T>C	ENST00000374866.3	-	45	3469	c.3195A>G	c.(3193-3195)ggA>ggG	p.G1065G		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1065					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTACACGTTCTCCAACAGCAC	0.348																																					p.G1065G		.											.	COL5A2-92	0			c.A3195G						.						66.0	69.0	68.0					2																	189912941		2203	4300	6503	SO:0001819	synonymous_variant	1290	exon45			ACGTTCTCCAACA	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3195A>G	2.37:g.189912941T>C		Somatic	191	0		WXS	Illumina HiSeq	Phase_I	50	3	NM_000393	0	0	0	0	0	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Silent	SNP	ENST00000374866.3	37	CCDS33350.1																																																																																			.		0.348	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	
TRAK2	66008	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	202262967	202262967	+	Silent	SNP	G	G	A	rs201579398		TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr2:202262967G>A	ENST00000332624.3	-	6	1019	c.591C>T	c.(589-591)ttC>ttT	p.F197F	TRAK2_ENST00000430254.1_Silent_p.F197F	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	197	HAP1 N-terminal.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						AGGACTCATTGAACCGAAGAG	0.438																																					p.F197F		.											.	TRAK2-90	0			c.C591T						.	G		0,4406		0,0,2203	128.0	123.0	125.0		591	4.9	1.0	2		125	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TRAK2	NM_015049.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		197/915	202262967	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	66008	exon6			CTCATTGAACCGA	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.591C>T	2.37:g.202262967G>A		Somatic	230	0		WXS	Illumina HiSeq	Phase_I	17	9	NM_015049	0	0	0	0	0	E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Silent	SNP	ENST00000332624.3	37	CCDS2347.1																																																																																			G|0.999;A|0.001		0.438	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049	
FN1	2335	hgsc.bcm.edu	37	2	216232668	216232668	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr2:216232668C>G	ENST00000359671.1	-	41	6928	c.6663G>C	c.(6661-6663)tgG>tgC	p.W2221C	FN1_ENST00000421182.1_Missense_Mutation_p.W2075C|FN1_ENST00000345488.5_Missense_Mutation_p.W2019C|FN1_ENST00000357867.4_Missense_Mutation_p.W2011C|FN1_ENST00000446046.1_Missense_Mutation_p.W2165C|FN1_ENST00000443816.1_Missense_Mutation_p.W2100C|FN1_ENST00000356005.4_Missense_Mutation_p.W2131C|FN1_ENST00000354785.4_Missense_Mutation_p.W2312C|FN1_ENST00000336916.4_Missense_Mutation_p.W2190C|FN1_ENST00000432072.2_Missense_Mutation_p.W2102C|FN1_ENST00000323926.6_Missense_Mutation_p.W2281C|FN1_ENST00000346544.3_Intron|FN1_ENST00000357009.2_3'UTR			P02751	FINC_HUMAN	fibronectin 1	2221	Fibrin-binding 2.|Fibronectin type-I 10. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	ACATTCGTTCCCACTCATCTC	0.448																																					p.W2312C		.											.	FN1-584	0			c.G6936C						.						149.0	125.0	133.0					2																	216232668		2203	4300	6503	SO:0001583	missense	2335	exon42			TCGTTCCCACTCA		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.6663G>C	2.37:g.216232668C>G	ENSP00000352696:p.Trp2221Cys	Somatic	186	0		WXS	Illumina HiSeq	Phase_I	38	2	NM_212482	0	0	122	122	0	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37		.	.	.	.	.	.	.	.	.	.	C	17.67	3.445932	0.63178	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000345488;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76;-0.76	5.67	5.67	0.87782	Fibronectin, type I (4);Complement control module (1);	0.000000	0.64402	D	0.000010	D	0.85600	0.5734	L	0.61218	1.895	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;0.999;0.998;0.999;1.0;0.999;0.998;0.998;0.999;1.0	D	0.86200	0.1618	10	0.87932	D	0	.	19.7563	0.96294	0.0:1.0:0.0:0.0	.	2102;2281;2011;2131;2165;2190;2222;2075;2100;2312;2221	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	C	2075;2281;2190;2011;2312;2222;2221;2019;2165;2100;2102;2131;938	ENSP00000394423:W2075C;ENSP00000323534:W2281C;ENSP00000338200:W2190C;ENSP00000350534:W2011C;ENSP00000346839:W2312C;ENSP00000352696:W2221C;ENSP00000273049:W2019C;ENSP00000410422:W2165C;ENSP00000415018:W2100C;ENSP00000399538:W2102C;ENSP00000348285:W2131C;ENSP00000416139:W938C	ENSP00000265313:W2222C	W	-	3	0	FN1	215940913	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	7.818000	0.86416	2.670000	0.90874	0.585000	0.79938	TGG	.		0.448	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
RUFY4	285180	hgsc.bcm.edu;broad.mit.edu	37	2	218954705	218954705	+	Silent	SNP	C	C	T	rs368084035	byFrequency	TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr2:218954705C>T	ENST00000344321.7	+	13	2162	c.1644C>T	c.(1642-1644)tgC>tgT	p.C548C	RUFY4_ENST00000374155.3_3'UTR|RUFY4_ENST00000441828.2_3'UTR	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	548							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCCATGCTTGCTCCATGGATT	0.632													C|||	4	0.000798722	0.003	0.0	5008	,	,		17867	0.0		0.0	False		,,,				2504	0.0				p.C548C		.											.	RUFY4-46	0			c.C1644T						.	C		20,3988		0,20,1984	36.0	44.0	41.0		1644	3.6	1.0	2		41	0,8322		0,0,4161	no	coding-synonymous	RUFY4	NM_198483.3		0,20,6145	TT,TC,CC		0.0,0.499,0.1622		548/572	218954705	20,12310	2004	4161	6165	SO:0001819	synonymous_variant	285180	exon13			TGCTTGCTCCATG	AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"""Zinc fingers, FYVE domain containing"""	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.1644C>T	2.37:g.218954705C>T		Somatic	10	1		WXS	Illumina HiSeq	Phase_I	11	6	NM_198483	0	0	0	0	0	Q6ZR96	Silent	SNP	ENST00000344321.7	37																																																																																				.		0.632	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_198483	
SP140	11262	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	231177371	231177371	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr2:231177371C>T	ENST00000392045.3	+	27	2690	c.2576C>T	c.(2575-2577)gCt>gTt	p.A859V	SP140_ENST00000420434.3_Missense_Mutation_p.A832V|SP140_ENST00000417495.3_Missense_Mutation_p.A745V|SP140_ENST00000486687.2_Intron|SP140_ENST00000343805.6_Missense_Mutation_p.A799V|SP140_ENST00000350136.5_Missense_Mutation_p.A728V	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	859					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAAGTGTTTGCTATTCAGGAA	0.393																																					p.A859V		.											.	SP140-90	0			c.C2576T						.						157.0	145.0	149.0					2																	231177371		1872	4114	5986	SO:0001583	missense	11262	exon27			TGTTTGCTATTCA	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.2576C>T	2.37:g.231177371C>T	ENSP00000375899:p.Ala859Val	Somatic	232	0		WXS	Illumina HiSeq	Phase_I	152	46	NM_007237	0	0	18	18	0	E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.321189	0.60634	.	.	ENSG00000079263	ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	3.48	2.5	0.30297	Bromodomain (3);	.	.	.	.	T	0.57562	0.2062	M	0.68952	2.095	0.23645	N	0.997215	D;P;D;D	0.64830	0.993;0.956;0.992;0.994	D;B;P;P	0.72625	0.978;0.39;0.708;0.663	T	0.38499	-0.9658	9	0.87932	D	0	-5.2094	7.4406	0.27181	0.2583:0.7417:0.0:0.0	.	832;745;799;859	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	V	728;859;745;799;832	ENSP00000345846:A728V;ENSP00000375899:A859V;ENSP00000342096:A799V;ENSP00000398210:A832V	ENSP00000342096:A799V	A	+	2	0	SP140	230885615	0.425000	0.25498	0.936000	0.37596	0.918000	0.54935	0.202000	0.17295	1.966000	0.57179	0.462000	0.41574	GCT	.		0.393	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237	
SOX12	6666	hgsc.bcm.edu	37	20	307296	307296	+	Missense_Mutation	SNP	A	A	G	rs73574574	byFrequency	TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr20:307296A>G	ENST00000342665.2	+	1	1058	c.728A>G	c.(727-729)gAg>gGg	p.E243G	SOX12_ENST00000544632.1_Missense_Mutation_p.E243G|RP5-1103G7.4_ENST00000442637.1_RNA|RP5-1103G7.4_ENST00000414676.1_RNA	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	243	Asp/Glu-rich (acidic).				cell fate commitment (GO:0045165)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord development (GO:0021510)	nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	DNA binding (GO:0003677)|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 transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GGTGAAGAGGAGACGGTGGCG	0.751													A|||	23	0.00459265	0.0166	0.0014	5008	,	,		9282	0.0		0.0	False		,,,				2504	0.0				p.E243G		.											.	SOX12-514	0			c.A728G						.	A	GLY/GLU	48,4096		0,48,2024	13.0	11.0	12.0		728	3.2	1.0	20	dbSNP_130	12	0,8176		0,0,4088	no	missense	SOX12	NM_006943.2	98	0,48,6112	GG,GA,AA		0.0,1.1583,0.3896	benign	243/316	307296	48,12272	2072	4088	6160	SO:0001583	missense	6666	exon1			AAGAGGAGACGGT	U35612	CCDS12995.1	20p13	2008-07-28	2002-07-22	2002-07-26	ENSG00000177732	ENSG00000177732		"""SRY (sex determining region Y)-boxes"""	11198	protein-coding gene	gene with protein product		601947	"""SRY (sex determining region Y)-box 22"""	SOX22		9215677	Standard	NM_006943		Approved		uc002wdh.4	O15370	OTTHUMG00000031623	ENST00000342665.2:c.728A>G	20.37:g.307296A>G	ENSP00000347646:p.Glu243Gly	Somatic	2	1		WXS	Illumina HiSeq	Phase_I	10	5	NM_006943	0	0	5	7	2	Q5D038|Q9NUD4	Missense_Mutation	SNP	ENST00000342665.2	37	CCDS12995.1	10	0.004578754578754579	10	0.02032520325203252	0	0.0	0	0.0	0	0.0	A	9.986	1.229492	0.22542	0.011583	0.0	ENSG00000177732	ENST00000544632;ENST00000342665	D;D	0.98221	-4.8;-4.8	3.23	3.23	0.37069	.	9.611210	0.01410	U	0.013973	D	0.92166	0.7516	N	0.24115	0.695	0.25663	N	0.985977	B	0.09022	0.002	B	0.09377	0.004	D	0.86384	0.1731	10	0.25751	T	0.34	.	10.4928	0.44760	1.0:0.0:0.0:0.0	.	243	O15370	SOX12_HUMAN	G	243	ENSP00000441671:E243G;ENSP00000347646:E243G	ENSP00000347646:E243G	E	+	2	0	SOX12	255296	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	4.263000	0.58853	1.342000	0.45619	0.164000	0.16699	GAG	A|0.995;G|0.005		0.751	SOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077435.2	NM_006943	
UBOX5	22888	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	3090943	3090943	+	Silent	SNP	G	G	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr20:3090943G>A	ENST00000217173.2	-	5	1906	c.1435C>T	c.(1435-1437)Ctg>Ttg	p.L479L	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Silent_p.L425L|UBOX5-AS1_ENST00000454019.1_RNA	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5											endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						TCGGGGCCCAGGATGCTCCCA	0.587																																					p.P477L		.											.	UBOX5-227	0			c.C1430T						.						60.0	69.0	66.0					20																	3090943		2203	4300	6503	SO:0001819	synonymous_variant	22888	exon5			GGCCCAGGATGCT	AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"""RING-type (C3HC4) zinc fingers"", ""U-box domain containing"""	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.1435C>T	20.37:g.3090943G>A		Somatic	165	0		WXS	Illumina HiSeq	Phase_I	253	97	NM_001267584	0	0	2	3	1		Missense_Mutation	SNP	ENST00000217173.2	37	CCDS13046.1																																																																																			.		0.587	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077706.2	NM_014948	
ZSWIM1	90204	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	44512145	44512145	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr20:44512145A>T	ENST00000372523.1	+	2	1009	c.914A>T	c.(913-915)aAt>aTt	p.N305I	ZSWIM1_ENST00000372520.1_Missense_Mutation_p.N305I	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	305						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				GCCCAGAACAATCATGCTCCC	0.542																																					p.N305I		.											.	ZSWIM1-91	0			c.A914T						.						106.0	100.0	102.0					20																	44512145		2203	4300	6503	SO:0001583	missense	90204	exon2			AGAACAATCATGC	AL008726	CCDS13382.2	20q13.12	2013-09-20	2003-12-17	2003-12-19	ENSG00000168612	ENSG00000168612		"""Zinc fingers, SWIM-type"""	16155	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 162"""	C20orf162			Standard	NM_080603		Approved	dJ337O18.5	uc010ghi.3	Q9BR11	OTTHUMG00000074023	ENST00000372523.1:c.914A>T	20.37:g.44512145A>T	ENSP00000361601:p.Asn305Ile	Somatic	207	0		WXS	Illumina HiSeq	Phase_I	330	103	NM_080603	0	0	17	23	6	Q5JZH2|Q9BR12|Q9BV30	Missense_Mutation	SNP	ENST00000372523.1	37	CCDS13382.2	.	.	.	.	.	.	.	.	.	.	A	1.890	-0.455649	0.04540	.	.	ENSG00000168612	ENST00000372523;ENST00000372520	T;T	0.23754	1.89;1.89	5.03	-5.13	0.02884	.	1.279150	0.05647	U	0.584537	T	0.15565	0.0375	N	0.19112	0.55	0.09310	N	1	B	0.33379	0.41	B	0.29440	0.102	T	0.20538	-1.0272	10	0.37606	T	0.19	-6.9614	13.0392	0.58889	0.2965:0.0964:0.607:0.0	.	305	Q9BR11	ZSWM1_HUMAN	I	305	ENSP00000361601:N305I;ENSP00000361598:N305I	ENSP00000361598:N305I	N	+	2	0	ZSWIM1	43945552	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-3.302000	0.00520	-0.994000	0.03463	-0.256000	0.11100	AAT	.		0.542	ZSWIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157064.2	NM_080603	
GRAMD4	23151	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	47068788	47068788	+	Missense_Mutation	SNP	G	G	A	rs371794625		TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr22:47068788G>A	ENST00000406902.1	+	14	1346	c.1133G>A	c.(1132-1134)cGc>cAc	p.R378H	GRAMD4_ENST00000361034.3_Missense_Mutation_p.R378H|GRAMD4_ENST00000408031.1_5'Flank			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	378					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		ATCTTTAAACGCTGCCCGAGG	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16350	0.0		0.0	False		,,,				2504	0.0				p.R378H		.											.	GRAMD4-23	0			c.G1133A						.	G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	71.0	68.0	69.0		1133	4.6	1.0	22		69	0,8600		0,0,4300	no	missense	GRAMD4	NM_015124.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	378/579	47068788	1,13005	2203	4300	6503	SO:0001583	missense	23151	exon13			TTAAACGCTGCCC		CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"""death-inducing-protein"""	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.1133G>A	22.37:g.47068788G>A	ENSP00000385689:p.Arg378His	Somatic	77	0		WXS	Illumina HiSeq	Phase_I	117	42	NM_015124	0	0	6	11	5	A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Missense_Mutation	SNP	ENST00000406902.1	37	CCDS33672.1	.	.	.	.	.	.	.	.	.	.	g	29.5	5.010183	0.93346	2.27E-4	0.0	ENSG00000075240	ENST00000406902;ENST00000361034	T;T	0.45276	0.9;0.9	4.63	4.63	0.57726	.	0.079168	0.49916	D	0.000133	T	0.51466	0.1676	L	0.48642	1.525	0.53688	D	0.99997	D	0.71674	0.998	P	0.56216	0.794	T	0.56177	-0.8022	10	0.87932	D	0	-22.1761	15.3516	0.74393	0.0:0.0:1.0:0.0	.	378	Q6IC98	GRAM4_HUMAN	H	378	ENSP00000385689:R378H;ENSP00000354313:R378H	ENSP00000354313:R378H	R	+	2	0	GRAMD4	45447452	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	8.900000	0.92551	2.294000	0.77228	0.563000	0.77884	CGC	.		0.577	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317969.1	NM_015124	
C3orf35	339883	broad.mit.edu	37	3	37458846	37458846	+	Missense_Mutation	SNP	G	G	A	rs193097162	byFrequency	TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr3:37458846G>A	ENST00000328376.5	+	5	1068	c.89G>A	c.(88-90)cGa>cAa	p.R30Q	C3orf35_ENST00000425932.1_Missense_Mutation_p.R30Q|C3orf35_ENST00000452017.2_Missense_Mutation_p.R30Q|C3orf35_ENST00000481400.1_Intron|C3orf35_ENST00000426078.1_Missense_Mutation_p.R30Q|C3orf35_ENST00000425564.2_Missense_Mutation_p.R30Q	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35	30						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TTGTGCGCCCGAACTTTTCAC	0.433													G|||	4	0.000798722	0.0015	0.0	5008	,	,		18668	0.001		0.0	False		,,,				2504	0.001				p.R30Q													.	C3orf35-112	0			c.G89A						.	G	GLN/ARG,GLN/ARG	1,3671		0,1,1835	111.0	105.0	107.0		89,89	-6.6	0.0	3		107	3,8163		0,3,4080	yes	missense,missense	C3orf35	NM_178339.2,NM_178342.2	43,43	0,4,5915	AA,AG,GG		0.0367,0.0272,0.0338	probably-damaging,probably-damaging	30/171,30/120	37458846	4,11834	1836	4083	5919	SO:0001583	missense	339883	exon5			GCGCCCGAACTTT	AJ493599	CCDS43065.1, CCDS46792.1	3p22.3	2014-05-22			ENSG00000198590	ENSG00000198590			24082	protein-coding gene	gene with protein product	"""AP20 region protein"", ""APRG1 tumor suppressor candidate"""	611429				12543795	Standard	NM_178342		Approved	APRG1	uc003cha.4	Q8IVJ8	OTTHUMG00000155923	ENST00000328376.5:c.89G>A	3.37:g.37458846G>A	ENSP00000331625:p.Arg30Gln	Somatic	258	0		WXS	Illumina HiSeq	Phase_I	128	4	NM_178342	0	0	1	1	0	B7ZMA0|Q8IVJ5|Q8IVJ9	Missense_Mutation	SNP	ENST00000328376.5	37	CCDS43065.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	7.692	0.691247	0.15039	2.72E-4	3.67E-4	ENSG00000198590	ENST00000425932;ENST00000328376;ENST00000452017;ENST00000426078;ENST00000425564	T	0.55413	0.52	4.24	-6.63	0.01807	.	.	.	.	.	T	0.26629	0.0651	N	0.08118	0	0.09310	N	1	B;B	0.19706	0.038;0.017	B;B	0.10450	0.005;0.003	T	0.28650	-1.0037	9	0.87932	D	0	.	7.6808	0.28513	0.4534:0.3754:0.1712:0.0	.	30;30	Q8IVJ8-3;Q8IVJ8	.;APRG1_HUMAN	Q	30	ENSP00000331625:R30Q	ENSP00000331625:R30Q	R	+	2	0	C3orf35	37433850	0.011000	0.17503	0.000000	0.03702	0.100000	0.18952	-0.493000	0.06459	-1.614000	0.01575	-0.251000	0.11542	CGA	G|0.999;A|0.001		0.433	C3orf35-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342344.2	NM_178338	
CCRL2	9034	broad.mit.edu	37	3	46449903	46449903	+	Missense_Mutation	SNP	C	C	A	rs371988169		TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr3:46449903C>A	ENST00000399036.3	+	2	685	c.333C>A	c.(331-333)ttC>ttA	p.F111L	CCRL2_ENST00000400880.3_Missense_Mutation_p.F111L|RP11-24F11.2_ENST00000451485.1_RNA|CCRL2_ENST00000357392.4_Missense_Mutation_p.F123L|CCRL2_ENST00000400882.2_Missense_Mutation_p.F111L	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	111					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CCR chemokine receptor binding (GO:0048020)|chemokine receptor activity (GO:0004950)|chemokine receptor binding (GO:0042379)			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		GACTGTACTTCGTGGGCCTGT	0.468																																					p.F123L													.	CCRL2-569	0			c.C369A						.						97.0	94.0	95.0					3																	46449903		1997	4147	6144	SO:0001583	missense	9034	exon2			GTACTTCGTGGGC	AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797		"""GPCR / Class A : Chemokine receptors : Atypical"""	1612	protein-coding gene	gene with protein product	"""atypical chemokine receptor 5"""	608379				9473515	Standard	NM_001130910		Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	ENST00000399036.3:c.333C>A	3.37:g.46449903C>A	ENSP00000381994:p.Phe111Leu	Somatic	240	0		WXS	Illumina HiSeq	Phase_I	204	4	NM_001130910	0	0	1	1	0	B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q7KYQ9|Q96KP5|Q9UPG0	Missense_Mutation	SNP	ENST00000399036.3	37	CCDS43079.1	.	.	.	.	.	.	.	.	.	.	C	5.055	0.195853	0.09599	.	.	ENSG00000121797	ENST00000399036;ENST00000357392;ENST00000400880;ENST00000433848;ENST00000400882	T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49	5.25	-0.613	0.11594	GPCR, rhodopsin-like superfamily (1);	0.631791	0.14943	N	0.289392	T	0.43897	0.1268	N	0.25094	0.71	0.09310	N	1	P;B	0.35821	0.523;0.324	B;B	0.26416	0.041;0.069	T	0.23726	-1.0180	10	0.27082	T	0.32	.	3.7134	0.08428	0.1117:0.4943:0.1005:0.2936	.	123;111	O00421-2;O00421	.;CCRL2_HUMAN	L	111;123;111;111;111	ENSP00000381994:F111L;ENSP00000349967:F123L;ENSP00000383677:F111L;ENSP00000414957:F111L;ENSP00000383678:F111L	ENSP00000349967:F123L	F	+	3	2	CCRL2	46424907	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.241000	0.02911	-0.257000	0.09459	-1.579000	0.00862	TTC	.		0.468	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343909.2		
OR5H15	403274	hgsc.bcm.edu	37	3	97887854	97887854	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr3:97887854T>C	ENST00000356526.2	+	1	311	c.311T>C	c.(310-312)aTt>aCt	p.I104T		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TTTTTTTCCATTGCAATTGGC	0.388																																					p.I104T		.											.	OR5H15-92	0			c.T311C						.						155.0	147.0	150.0					3																	97887854		2203	4298	6501	SO:0001583	missense	403274	exon1			TTTCCATTGCAAT		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.311T>C	3.37:g.97887854T>C	ENSP00000373195:p.Ile104Thr	Somatic	406	0		WXS	Illumina HiSeq	Phase_I	47	3	NM_001005515	0	0	0	0	0		Missense_Mutation	SNP	ENST00000356526.2	37	CCDS33799.1	.	.	.	.	.	.	.	.	.	.	-	0.529	-0.858769	0.02610	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.01323	5.01	2.48	2.48	0.30137	GPCR, rhodopsin-like superfamily (1);	0.592858	0.15215	N	0.274263	T	0.01061	0.0035	N	0.16166	0.38	0.09310	N	1	B	0.19583	0.037	B	0.20955	0.032	T	0.47484	-0.9114	10	0.87932	D	0	.	4.8406	0.13489	0.275:0.0:0.0:0.725	.	104	A6NDH6	O5H15_HUMAN	T	104	ENSP00000373195:I104T	ENSP00000373195:I104T	I	+	2	0	OR5H15	99370544	0.012000	0.17670	0.007000	0.13788	0.004000	0.04260	1.381000	0.34362	1.138000	0.42230	0.155000	0.16302	ATT	.		0.388	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1		
IFT57	55081	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	107937434	107937434	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr3:107937434G>C	ENST00000264538.3	-	3	689	c.442C>G	c.(442-444)Ctt>Gtt	p.L148V		NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57	148					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			AAGCAATCAAGAACATAGCAT	0.343																																					p.L148V		.											.	IFT57-227	0			c.C442G						.						73.0	74.0	73.0					3																	107937434		2203	4299	6502	SO:0001583	missense	55081	exon3			AATCAAGAACATA	AK001009	CCDS2951.1	3q13.13	2014-07-03	2014-07-03	2005-11-02	ENSG00000114446	ENSG00000114446		"""Intraflagellar transport homologs"""	17367	protein-coding gene	gene with protein product		606621	"""estrogen-related receptor beta like 1"", ""intraflagellar transport 57 homolog (Chlamydomonas)"""	ESRRBL1			Standard	NM_018010		Approved	FLJ10147, HIPPI, MHS4R2	uc003dwx.4	Q9NWB7	OTTHUMG00000159223	ENST00000264538.3:c.442C>G	3.37:g.107937434G>C	ENSP00000264538:p.Leu148Val	Somatic	200	0		WXS	Illumina HiSeq	Phase_I	47	7	NM_018010	0	0	27	52	25	Q96DA9	Missense_Mutation	SNP	ENST00000264538.3	37	CCDS2951.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034317	0.75617	.	.	ENSG00000114446	ENST00000264538	.	.	.	5.99	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.84584	0.5504	M	0.90977	3.165	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.87397	0.2367	9	0.51188	T	0.08	.	15.0869	0.72162	0.0674:0.0:0.9326:0.0	.	148	Q9NWB7	IFT57_HUMAN	V	148	.	ENSP00000264538:L148V	L	-	1	0	IFT57	109420124	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.875000	0.69660	1.540000	0.49301	0.655000	0.94253	CTT	.		0.343	IFT57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353918.1	NM_018010	
PVRL3	25945	hgsc.bcm.edu	37	3	110852638	110852638	+	Missense_Mutation	SNP	T	T	G	rs537220727		TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr3:110852638T>G	ENST00000485303.1	+	6	1501	c.1226T>G	c.(1225-1227)gTa>gGa	p.V409G	PVRL3_ENST00000319792.3_3'UTR|PVRL3_ENST00000493615.1_Intron	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	409					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						ATTGCTAGTGTAGTGGGTGGG	0.438																																					p.V409G		.											.	PVRL3-92	0			c.T1226G						.						174.0	171.0	172.0					3																	110852638		2203	4300	6503	SO:0001583	missense	25945	exon6			CTAGTGTAGTGGG	AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.1226T>G	3.37:g.110852638T>G	ENSP00000418070:p.Val409Gly	Somatic	354	1		WXS	Illumina HiSeq	Phase_I	38	3	NM_015480	0	0	10	10	0	E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	ENST00000485303.1	37	CCDS2957.1	.	.	.	.	.	.	.	.	.	.	T	10.21	1.287793	0.23478	.	.	ENSG00000177707	ENST00000485303	T	0.19532	2.14	5.76	4.63	0.57726	Cytochrome c1, transmembrane anchor, C-terminal (1);	0.108700	0.64402	D	0.000009	T	0.15522	0.0374	L	0.38175	1.15	0.80722	D	1	B	0.27229	0.172	B	0.22386	0.039	T	0.05632	-1.0873	10	0.87932	D	0	.	7.2403	0.26092	0.0:0.1282:0.0:0.8717	.	409	Q9NQS3	PVRL3_HUMAN	G	409	ENSP00000418070:V409G	ENSP00000418070:V409G	V	+	2	0	PVRL3	112335328	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.306000	0.51881	2.206000	0.71126	0.383000	0.25322	GTA	.		0.438	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480	
STXBP5L	9515	broad.mit.edu	37	3	120952528	120952528	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr3:120952528C>A	ENST00000273666.6	+	12	1448	c.1177C>A	c.(1177-1179)Caa>Aaa	p.Q393K	STXBP5L_ENST00000471454.1_Missense_Mutation_p.Q393K|STXBP5L_ENST00000472879.1_Missense_Mutation_p.Q393K|STXBP5L_ENST00000492541.1_Missense_Mutation_p.Q393K|STXBP5L_ENST00000497029.1_Missense_Mutation_p.Q393K	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	393					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TGATCTGACACAAAGCAAGTA	0.294																																					p.Q393K													.	STXBP5L-77	0			c.C1177A						.						88.0	83.0	85.0					3																	120952528		1814	4076	5890	SO:0001583	missense	9515	exon12			CTGACACAAAGCA	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1177C>A	3.37:g.120952528C>A	ENSP00000273666:p.Gln393Lys	Somatic	149	0		WXS	Illumina HiSeq	Phase_I	20	3	NM_014980	0	0	0	0	0	Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443493	0.83993	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.36520	1.94;1.94;1.74;1.25;1.73;1.94	4.27	4.27	0.50696	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.000000	0.85682	D	0.000000	T	0.52581	0.1743	L	0.54323	1.7	0.80722	D	1	D;D	0.60575	0.988;0.988	D;D	0.76071	0.987;0.987	T	0.44251	-0.9340	10	0.15066	T	0.55	-25.6058	16.8666	0.86030	0.0:1.0:0.0:0.0	.	393;393	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	K	393	ENSP00000273666:Q393K;ENSP00000420019:Q393K;ENSP00000419627:Q393K;ENSP00000420287:Q393K;ENSP00000420666:Q393K;ENSP00000420167:Q393K	ENSP00000273666:Q393K	Q	+	1	0	STXBP5L	122435218	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.281000	0.78621	2.194000	0.70268	0.491000	0.48974	CAA	.		0.294	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3		
RARRES1	5918	hgsc.bcm.edu;broad.mit.edu	37	3	158422600	158422600	+	Missense_Mutation	SNP	G	G	C	rs140091959		TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr3:158422600G>C	ENST00000237696.5	-	4	932	c.652C>G	c.(652-654)Ctc>Gtc	p.L218V	RARRES1_ENST00000479756.1_Missense_Mutation_p.L218V|RARRES1_ENST00000498640.1_5'UTR	NM_206963.1	NP_996846.1	P49788	TIG1_HUMAN	retinoic acid receptor responder (tazarotene induced) 1	218					negative regulation of cell proliferation (GO:0008285)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	ACACTAGTGAGCTGTGCCAAG	0.443																																					p.L218V		.											.	RARRES1-514	0			c.C652G						.						114.0	102.0	106.0					3																	158422600		2203	4300	6503	SO:0001583	missense	5918	exon4			TAGTGAGCTGTGC	U27185	CCDS3184.1, CCDS54665.1	3q25.32	2013-07-29			ENSG00000118849	ENSG00000118849			9867	protein-coding gene	gene with protein product	"""latexin-like"""	605090				8601727, 9270552	Standard	NM_002888		Approved	TIG1, LXNL	uc003fci.3	P49788	OTTHUMG00000158834	ENST00000237696.5:c.652C>G	3.37:g.158422600G>C	ENSP00000237696:p.Leu218Val	Somatic	94	0		WXS	Illumina HiSeq	Phase_I	44	11	NM_206963	0	0	44	44	0	Q8N1D7	Missense_Mutation	SNP	ENST00000237696.5	37	CCDS3184.1	.	.	.	.	.	.	.	.	.	.	-	6.185	0.402312	0.11696	.	.	ENSG00000118849	ENST00000237696;ENST00000479756	T;T	0.26660	1.72;1.72	5.2	2.23	0.28157	.	0.201181	0.42821	D	0.000657	T	0.17408	0.0418	L	0.33485	1.01	0.23969	N	0.996317	B;B	0.29136	0.234;0.036	B;B	0.32289	0.143;0.021	T	0.19484	-1.0304	10	0.23891	T	0.37	.	8.0807	0.30744	0.0:0.1549:0.525:0.3201	.	218;218	P49788-2;P49788	.;TIG1_HUMAN	V	218	ENSP00000237696:L218V;ENSP00000418556:L218V	ENSP00000237696:L218V	L	-	1	0	RARRES1	159905294	0.982000	0.34865	0.467000	0.27180	0.899000	0.52679	0.162000	0.16501	0.572000	0.29383	0.387000	0.25754	CTC	G|0.999;A|0.001		0.443	RARRES1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352358.1		
GAK	2580	broad.mit.edu	37	4	858925	858925	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr4:858925T>G	ENST00000314167.4	-	23	3261	c.3151A>C	c.(3151-3153)Acg>Ccg	p.T1051P	GAK_ENST00000511163.1_Missense_Mutation_p.T972P|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1051			T -> M (in dbSNP:rs35227944). {ECO:0000269|PubMed:17344846}.		cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GTGGCTGGCGTGGGGGCCACT	0.637																																					p.T1051P													.	GAK-568	0			c.A3151C						.						29.0	34.0	32.0					4																	858925		2200	4296	6496	SO:0001583	missense	2580	exon23			CTGGCGTGGGGGC	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.3151A>C	4.37:g.858925T>G	ENSP00000314499:p.Thr1051Pro	Somatic	36	11		WXS	Illumina HiSeq	Phase_I	68	20	NM_005255	0	0	58	62	4	Q5U4P5|Q9BVY6	Missense_Mutation	SNP	ENST00000314167.4	37	CCDS3340.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.504|7.504	0.653367|0.653367	0.14580|0.14580	.|.	.|.	ENSG00000178950|ENSG00000178950	ENST00000510799|ENST00000398567;ENST00000314167;ENST00000511163	.|T;T	.|0.78707	.|-0.75;-1.2	2.99|2.99	-2.65|-2.65	0.06095|0.06095	.|.	.|1.642800	.|0.02802	.|N	.|0.123304	T|T	0.61135|0.61135	0.2323|0.2323	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.32128	.|0.357;0.001;0.0;0.0	.|B;B;B;B	.|0.31191	.|0.125;0.001;0.001;0.001	T|T	0.52290|0.52290	-0.8595|-0.8595	5|10	.|0.39692	.|T	.|0.17	1.9604|1.9604	7.7425|7.7425	0.28849|0.28849	0.0:0.5379:0.0:0.4621|0.0:0.5379:0.0:0.4621	.|.	.|953;972;1051;936	.|B4DS37;E9PGR2;O14976;Q59HA5	.|.;.;GAK_HUMAN;.	P|P	170|327;1051;972	.|ENSP00000314499:T1051P;ENSP00000421361:T972P	.|ENSP00000314499:T1051P	H|T	-|-	2|1	0|0	GAK|GAK	848925|848925	0.011000|0.011000	0.17503|0.17503	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.699000|-0.699000	0.05087|0.05087	-0.544000|-0.544000	0.06232|0.06232	-1.145000|-1.145000	0.01858|0.01858	CAC|ACG	.		0.637	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255	
EVC	2121	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	5721079	5721079	+	Silent	SNP	G	G	A	rs373072919		TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr4:5721079G>A	ENST00000264956.6	+	2	463	c.279G>A	c.(277-279)tcG>tcA	p.S93S	EVC_ENST00000382674.2_Silent_p.S93S|EVC_ENST00000509451.1_Silent_p.S93S	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	93					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				TGCAGATGTCGAAGGACAAGG	0.512																																					p.S93S		.											.	EVC-92	0			c.G279A						.	G		0,4406		0,0,2203	251.0	241.0	245.0		279	-5.8	0.0	4		245	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	EVC	NM_153717.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		93/993	5721079	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2121	exon2			GATGTCGAAGGAC	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.279G>A	4.37:g.5721079G>A		Somatic	266	0		WXS	Illumina HiSeq	Phase_I	431	178	NM_153717	0	0	0	0	0		Silent	SNP	ENST00000264956.6	37	CCDS3383.1																																																																																			.		0.512	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1		
BOD1L1	259282	broad.mit.edu	37	4	13601241	13601241	+	Missense_Mutation	SNP	G	G	A	rs370936070	byFrequency	TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr4:13601241G>A	ENST00000040738.5	-	10	7418	c.7283C>T	c.(7282-7284)gCg>gTg	p.A2428V		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2428						nucleus (GO:0005634)	DNA binding (GO:0003677)										TTCTTTTTCCGCACAAACAGC	0.547											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	2	0.000399361	0.0	0.0029	5008	,	,		21537	0.0		0.0	False		,,,				2504	0.0				p.A2428V													.	.	0			c.C7283T						.	G	VAL/ALA	3,4403	8.1+/-20.4	0,3,2200	161.0	151.0	154.0		7283	1.0	0.0	4		154	1,8599	1.2+/-3.3	0,1,4299	no	missense	BOD1L	NM_148894.2	64	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	benign	2428/3052	13601241	4,13002	2203	4300	6503	SO:0001583	missense	259282	exon10			TTTTCCGCACAAA	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7283C>T	4.37:g.13601241G>A	ENSP00000040738:p.Ala2428Val	Somatic	364	1	688	WXS	Illumina HiSeq	Phase_I	502	6	NM_148894	0	0	0	0	0	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	3.136	-0.177381	0.06380	6.81E-4	1.16E-4	ENSG00000038219	ENST00000040738	T	0.06218	3.33	3.95	1.04	0.20106	.	1.970240	0.02637	N	0.104944	T	0.04452	0.0122	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.38779	-0.9645	10	0.08837	T	0.75	.	4.9181	0.13856	0.207:0.1754:0.6176:0.0	.	2428	Q8NFC6	BOD1L_HUMAN	V	2428	ENSP00000040738:A2428V	ENSP00000040738:A2428V	A	-	2	0	BOD1L	13210339	0.111000	0.22076	0.000000	0.03702	0.017000	0.09413	0.903000	0.28475	0.043000	0.15746	0.555000	0.69702	GCG	.		0.547	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894	
PDS5A	23244	hgsc.bcm.edu	37	4	39929607	39929607	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr4:39929607G>C	ENST00000303538.8	-	3	855	c.316C>G	c.(316-318)Cca>Gca	p.P106A	PDS5A_ENST00000503396.1_Missense_Mutation_p.P106A	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GAAGTATATGGAGCTTCTGGG	0.358																																					p.P106A		.											.	.	0			c.C316G						.						79.0	73.0	75.0					4																	39929607		1873	4100	5973	SO:0001583	missense	23244	exon3			TATATGGAGCTTC	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.316C>G	4.37:g.39929607G>C	ENSP00000303427:p.Pro106Ala	Somatic	89	0		WXS	Illumina HiSeq	Phase_I	27	2	NM_001100399	0	0	3	3	0		Missense_Mutation	SNP	ENST00000303538.8	37	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881480	0.91740	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	T	0.65916	-0.18	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81317	0.4797	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.995;0.999	T	0.81342	-0.0976	9	.	.	.	-11.145	19.7578	0.96301	0.0:0.0:1.0:0.0	.	106;106	Q29RF7-3;Q29RF7	.;PDS5A_HUMAN	A	106	ENSP00000303427:P106A	.	P	-	1	0	PDS5A	39606002	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.657000	0.90304	0.655000	0.94253	CCA	.		0.358	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200	
LNX1	84708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	54343092	54343092	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr4:54343092C>T	ENST00000263925.7	-	9	2034	c.1720G>A	c.(1720-1722)Gca>Aca	p.A574T	LNX1_ENST00000306888.2_Missense_Mutation_p.A478T|FIP1L1_ENST00000507166.1_Intron	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	574	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AATGCCACTGCCTCACTCCGG	0.488																																					p.A574T		.											.	LNX1-229	0			c.G1720A						.						166.0	166.0	166.0					4																	54343092		2203	4300	6503	SO:0001583	missense	84708	exon9			CCACTGCCTCACT	AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.1720G>A	4.37:g.54343092C>T	ENSP00000263925:p.Ala574Thr	Somatic	308	0		WXS	Illumina HiSeq	Phase_I	274	46	NM_001126328	0	0	5	8	3	Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	ENST00000263925.7	37	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304671	0.81136	.	.	ENSG00000072201	ENST00000306888;ENST00000538207;ENST00000263925	T;T	0.51574	0.7;0.7	5.16	5.16	0.70880	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.76435	0.3987	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82024	-0.0662	10	0.87932	D	0	.	18.8374	0.92168	0.0:1.0:0.0:0.0	.	574;478	Q8TBB1;Q8TBB1-2	LNX1_HUMAN;.	T	478;412;574	ENSP00000302879:A478T;ENSP00000263925:A574T	ENSP00000263925:A574T	A	-	1	0	LNX1	54037849	1.000000	0.71417	0.998000	0.56505	0.311000	0.27955	6.748000	0.74877	2.687000	0.91594	0.561000	0.74099	GCA	.		0.488	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2		
UGT2A3	79799	hgsc.bcm.edu	37	4	69816984	69816984	+	Silent	SNP	A	A	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr4:69816984A>G	ENST00000251566.4	-	1	525	c.495T>C	c.(493-495)ccT>ccC	p.P165P	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	165					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGAGCACAAAAGGGACTGCAA	0.473																																					p.P165P		.											.	UGT2A3-92	0			c.T495C						.						62.0	62.0	62.0					4																	69816984		2203	4299	6502	SO:0001819	synonymous_variant	79799	exon1			CACAAAAGGGACT		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.495T>C	4.37:g.69816984A>G		Somatic	131	0		WXS	Illumina HiSeq	Phase_I	22	2	NM_024743	0	0	20	20	0	Q9H6S4	Silent	SNP	ENST00000251566.4	37	CCDS3525.1																																																																																			.		0.473	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743	
AGPAT9	84803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	84457815	84457815	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr4:84457815T>C	ENST00000395226.2	+	2	258	c.40T>C	c.(40-42)Tgg>Cgg	p.W14R	AGPAT9_ENST00000264409.4_Missense_Mutation_p.W14R	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	14					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CCTTTCCACCTGGCTGACGCT	0.582																																					p.W14R		.											.	AGPAT9-91	0			c.T40C						.						88.0	69.0	75.0					4																	84457815		2203	4300	6503	SO:0001583	missense	84803	exon2			TCCACCTGGCTGA	AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	28157	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, theta"""	610958	"""1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"""			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.40T>C	4.37:g.84457815T>C	ENSP00000378651:p.Trp14Arg	Somatic	80	0		WXS	Illumina HiSeq	Phase_I	214	44	NM_001256421	0	0	3	3	0	Q68CJ4|Q6GPI6|Q96NA3	Missense_Mutation	SNP	ENST00000395226.2	37	CCDS3606.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.459554	0.84317	.	.	ENSG00000138678	ENST00000395226;ENST00000264409	T;T	0.48201	0.82;0.82	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.64405	0.2595	M	0.86028	2.79	0.47374	D	0.999407	D	0.58970	0.984	P	0.54372	0.75	T	0.71341	-0.4622	10	0.59425	D	0.04	-8.2831	13.1799	0.59649	0.0:0.0:0.0:1.0	.	14	Q53EU6	GPAT3_HUMAN	R	14	ENSP00000378651:W14R;ENSP00000264409:W14R	ENSP00000264409:W14R	W	+	1	0	AGPAT9	84676839	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.587000	0.53957	1.760000	0.52011	0.374000	0.22700	TGG	.		0.582	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717	
ANKRD50	57182	hgsc.bcm.edu	37	4	125591236	125591236	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr4:125591236C>G	ENST00000504087.1	-	4	4233	c.3196G>C	c.(3196-3198)Gag>Cag	p.E1066Q	ANKRD50_ENST00000515641.1_Missense_Mutation_p.E887Q	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1066										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GCACCATGCTCTAATAAGACC	0.428																																					p.E1066Q		.											.	ANKRD50-90	0			c.G3196C						.						107.0	101.0	103.0					4																	125591236		2203	4300	6503	SO:0001583	missense	57182	exon4			CATGCTCTAATAA	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3196G>C	4.37:g.125591236C>G	ENSP00000425658:p.Glu1066Gln	Somatic	170	0		WXS	Illumina HiSeq	Phase_I	27	2	NM_020337	0	0	0	0	0	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.754517	0.49362	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.67345	-0.26;-0.26	5.24	5.24	0.73138	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.59742	0.2216	L	0.38175	1.15	0.80722	D	1	B	0.25486	0.127	B	0.33960	0.173	T	0.54029	-0.8354	10	0.07482	T	0.82	.	19.0331	0.92965	0.0:1.0:0.0:0.0	.	1066	Q9ULJ7	ANR50_HUMAN	Q	1066;887	ENSP00000425658:E1066Q;ENSP00000425355:E887Q	ENSP00000425658:E1066Q	E	-	1	0	ANKRD50	125810686	1.000000	0.71417	0.990000	0.47175	0.975000	0.68041	7.164000	0.77533	2.724000	0.93272	0.561000	0.74099	GAG	.		0.428	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337	
SEMA5A	9037	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	9119220	9119220	+	Silent	SNP	A	A	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr5:9119220A>T	ENST00000382496.5	-	15	2480	c.1815T>A	c.(1813-1815)tcT>tcA	p.S605S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	605	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TGCTGCAGGGAGACCACGAGG	0.652																																					p.S605S		.											.	SEMA5A-91	0			c.T1815A						.						57.0	51.0	53.0					5																	9119220		2203	4300	6503	SO:0001819	synonymous_variant	9037	exon15			GCAGGGAGACCAC	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1815T>A	5.37:g.9119220A>T		Somatic	38	0		WXS	Illumina HiSeq	Phase_I	79	20	NM_003966	0	0	0	0	0	D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	CCDS3875.1																																																																																			.		0.652	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2		
CDH6	1004	hgsc.bcm.edu	37	5	31294177	31294177	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr5:31294177A>C	ENST00000265071.2	+	3	602	c.337A>C	c.(337-339)Acc>Ccc	p.T113P	CDH6_ENST00000514738.1_Missense_Mutation_p.T58P	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	113	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CATACAGGCCACCAAGAGGCT	0.463																																					p.T113P		.											.	CDH6-159	0			c.A337C						.						102.0	104.0	103.0					5																	31294177		2203	4300	6503	SO:0001583	missense	1004	exon3			CAGGCCACCAAGA	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.337A>C	5.37:g.31294177A>C	ENSP00000265071:p.Thr113Pro	Somatic	276	2		WXS	Illumina HiSeq	Phase_I	29	2	NM_004932	0	0	3	3	0	A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.143939	0.77888	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.56103	0.48;0.48	5.77	4.59	0.56863	Cadherin (5);Cadherin-like (1);	0.044760	0.85682	D	0.000000	T	0.79684	0.4488	H	0.95884	3.735	0.58432	D	0.999993	D;D	0.67145	0.99;0.996	D;D	0.72625	0.978;0.976	D	0.84659	0.0705	10	0.66056	D	0.02	.	12.3391	0.55083	0.8732:0.0:0.0:0.1268	.	113;113	P55285;P55285-2	CADH6_HUMAN;.	P	58;113	ENSP00000424843:T58P;ENSP00000265071:T113P	ENSP00000265071:T113P	T	+	1	0	CDH6	31329934	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.113000	0.77095	1.076000	0.40961	0.533000	0.62120	ACC	.		0.463	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932	
RAI14	26064	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	34757668	34757668	+	Silent	SNP	C	C	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr5:34757668C>T	ENST00000265109.3	+	3	419	c.132C>T	c.(130-132)gcC>gcT	p.A44A	RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000512629.1_Silent_p.A44A|RAI14_ENST00000506376.1_Silent_p.A36A|RAI14_ENST00000397449.1_Silent_p.A37A|RAI14_ENST00000515799.1_Silent_p.A47A|RAI14_ENST00000503673.1_Silent_p.A44A|RAI14_ENST00000428746.2_Silent_p.A44A	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	44			A -> T (in dbSNP:rs17521570).			actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AGAAGGGGGCCAGTGCCACCA	0.542																																					p.A47A		.											.	RAI14-91	0			c.C141T						.						74.0	71.0	72.0					5																	34757668		2203	4300	6503	SO:0001819	synonymous_variant	26064	exon5			GGGGGCCAGTGCC	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.132C>T	5.37:g.34757668C>T		Somatic	137	0		WXS	Illumina HiSeq	Phase_I	155	28	NM_001145525	0	0	1	1	0	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	ENST00000265109.3	37	CCDS34142.1																																																																																			.		0.542	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577	
PARP8	79668	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	50123848	50123848	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr5:50123848T>A	ENST00000281631.5	+	20	2206	c.2048T>A	c.(2047-2049)tTt>tAt	p.F683Y	PARP8_ENST00000505554.1_Missense_Mutation_p.F662Y|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Missense_Mutation_p.F641Y|PARP8_ENST00000514342.2_Missense_Mutation_p.F394Y|PARP8_ENST00000505697.2_Missense_Mutation_p.F683Y|PARP8_ENST00000514067.2_Missense_Mutation_p.F641Y	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	683	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GAATCCAATTTTAGAGCTGCT	0.383																																					p.F683Y		.											.	PARP8-586	0			c.T2048A						.						127.0	124.0	125.0					5																	50123848		2203	4300	6503	SO:0001583	missense	79668	exon21			CCAATTTTAGAGC	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.2048T>A	5.37:g.50123848T>A	ENSP00000281631:p.Phe683Tyr	Somatic	217	0		WXS	Illumina HiSeq	Phase_I	125	41	NM_001178055	0	0	20	33	13	Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.379826	0.82682	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	T;T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21;2.21	5.7	5.7	0.88788	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.059647	0.64402	D	0.000002	T	0.34193	0.0889	L	0.48935	1.535	0.54753	D	0.99998	D;P;P	0.53619	0.961;0.954;0.891	P;D;P	0.66351	0.492;0.943;0.492	T	0.01382	-1.1369	9	.	.	.	-16.5844	15.9599	0.79923	0.0:0.0:0.0:1.0	.	575;641;683	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	Y	683;641;394;683;641;662;394;394	ENSP00000422217:F683Y;ENSP00000440851:F641Y;ENSP00000439022:F394Y;ENSP00000281631:F683Y;ENSP00000424814:F641Y;ENSP00000423946:F662Y	.	F	+	2	0	PARP8	50159605	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	8.036000	0.88901	2.153000	0.67306	0.533000	0.62120	TTT	.		0.383	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615	
GPR98	84059	hgsc.bcm.edu	37	5	89923119	89923119	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr5:89923119T>C	ENST00000405460.2	+	7	860	c.764T>C	c.(763-765)aTc>aCc	p.I255T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	255					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATTGAGATCATCATTAAGAAA	0.363																																					p.I255T		.											.	GPR98-103	0			c.T764C						.						66.0	66.0	66.0					5																	89923119		1841	4081	5922	SO:0001583	missense	84059	exon7			AGATCATCATTAA	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.764T>C	5.37:g.89923119T>C	ENSP00000384582:p.Ile255Thr	Somatic	172	1		WXS	Illumina HiSeq	Phase_I	52	3	NM_032119	0	0	0	0	0	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	8.113	0.779170	0.16120	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.20332	2.08	5.79	4.64	0.57946	.	0.306080	0.40302	N	0.001126	T	0.10078	0.0247	N	0.12746	0.255	0.80722	D	1	B	0.12013	0.005	B	0.09377	0.004	T	0.20472	-1.0274	10	0.19590	T	0.45	.	7.1428	0.25566	0.1402:0.073:0.0:0.7869	.	255	Q8WXG9	GPR98_HUMAN	T	255	ENSP00000384582:I255T	ENSP00000296619:I255T	I	+	2	0	GPR98	89958875	0.958000	0.32768	1.000000	0.80357	0.927000	0.56198	0.689000	0.25437	2.215000	0.71742	0.528000	0.53228	ATC	.		0.363	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
NR2F1	7025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	92929424	92929424	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr5:92929424C>A	ENST00000327111.3	+	3	2835	c.1148C>A	c.(1147-1149)tCc>tAc	p.S383Y	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	383					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GTGTCCTCCTCCGTCATCGAG	0.582																																					p.S383Y		.											.	NR2F1-227	0			c.C1148A						.						123.0	118.0	120.0					5																	92929424		2203	4300	6503	SO:0001583	missense	7025	exon3			CCTCCTCCGTCAT	BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"""Nuclear hormone receptors"""	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.1148C>A	5.37:g.92929424C>A	ENSP00000325819:p.Ser383Tyr	Somatic	292	0		WXS	Illumina HiSeq	Phase_I	414	121	NM_005654	0	0	34	34	0		Missense_Mutation	SNP	ENST00000327111.3	37	CCDS4068.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607237	0.87157	.	.	ENSG00000175745	ENST00000327111	D	0.96856	-4.15	6.17	6.17	0.99709	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.000000	0.85682	D	0.000000	D	0.96482	0.8852	L	0.52206	1.635	0.80722	D	1	P	0.48294	0.908	P	0.50490	0.642	D	0.96365	0.9269	10	0.87932	D	0	.	20.4898	0.99202	0.0:1.0:0.0:0.0	.	383	P10589	COT1_HUMAN	Y	383	ENSP00000325819:S383Y	ENSP00000325819:S383Y	S	+	2	0	NR2F1	92955180	1.000000	0.71417	0.974000	0.42286	0.983000	0.72400	6.074000	0.71253	2.941000	0.99782	0.655000	0.94253	TCC	.		0.582	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2	NM_005654	
POU5F2	134187	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	93076682	93076682	+	Silent	SNP	A	A	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr5:93076682A>T	ENST00000510627.4	-	1	661	c.588T>A	c.(586-588)ctT>ctA	p.L196L	FAM172A_ENST00000395965.3_Intron|RP11-185E12.2_ENST00000606528.1_RNA|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000505869.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	196					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		ATAAGCCCAGAAGGTTCTCTG	0.542																																					p.L196L		.											.	.	0			c.T588A						.						107.0	107.0	107.0					5																	93076682		2115	4250	6365	SO:0001819	synonymous_variant	134187	exon1			GCCCAGAAGGTTC		CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"""Homeoboxes / POU class"""	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.588T>A	5.37:g.93076682A>T		Somatic	166	0		WXS	Illumina HiSeq	Phase_I	208	66	NM_153216	0	0	0	0	0	Q15169|Q6MZL7|Q8N748	Silent	SNP	ENST00000510627.4	37	CCDS59489.1																																																																																			.		0.542	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369873.5	NM_153216	
FNIP1	96459	broad.mit.edu	37	5	131006178	131006178	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr5:131006178G>A	ENST00000510461.1	-	15	3181	c.3086C>T	c.(3085-3087)tCa>tTa	p.S1029L	FNIP1_ENST00000307968.7_Missense_Mutation_p.S1001L|FNIP1_ENST00000307954.8_Missense_Mutation_p.S984L|CTC-432M15.3_ENST00000514667.1_Intron	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	1029					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		AGATAAATCTGACATCAGACA	0.433																																					p.S1029L													.	FNIP1-92	0			c.C3086T						.						132.0	120.0	125.0					5																	131006178		2203	4300	6503	SO:0001583	missense	96459	exon15			AAATCTGACATCA	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.3086C>T	5.37:g.131006178G>A	ENSP00000421985:p.Ser1029Leu	Somatic	214	0		WXS	Illumina HiSeq	Phase_I	25	6	NM_133372	0	0	2	3	1	D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329940	0.81690	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461	T;T;T	0.12672	2.66;2.66;2.66	6.02	6.02	0.97574	.	.	.	.	.	T	0.20495	0.0493	L	0.45581	1.43	0.80722	D	1	P;P	0.52316	0.868;0.952	B;P	0.46659	0.284;0.523	T	0.00334	-1.1809	9	0.27785	T	0.31	-2.3999	20.5373	0.99239	0.0:0.0:1.0:0.0	.	1001;1029	Q8TF40-3;Q8TF40	.;FNIP1_HUMAN	L	1001;984;781;1029	ENSP00000309266:S1001L;ENSP00000310453:S984L;ENSP00000421985:S1029L	ENSP00000310453:S984L	S	-	2	0	FNIP1	131034077	1.000000	0.71417	0.993000	0.49108	0.804000	0.45430	9.334000	0.96470	2.857000	0.98124	0.650000	0.86243	TCA	.		0.433	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372	
FNIP1	96459	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	131042155	131042155	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr5:131042155C>A	ENST00000510461.1	-	9	958	c.863G>T	c.(862-864)cGt>cTt	p.R288L	FNIP1_ENST00000511848.1_Missense_Mutation_p.R288L|FNIP1_ENST00000307968.7_Missense_Mutation_p.R260L|FNIP1_ENST00000307954.8_Missense_Mutation_p.R243L|CTC-432M15.3_ENST00000514667.1_Intron	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	288					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		GCGTCGCCAACGTCGCTGGTA	0.453																																					p.R288L		.											.	FNIP1-92	0			c.G863T						.						100.0	93.0	96.0					5																	131042155		2203	4300	6503	SO:0001583	missense	96459	exon9			CGCCAACGTCGCT	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.863G>T	5.37:g.131042155C>A	ENSP00000421985:p.Arg288Leu	Somatic	201	0		WXS	Illumina HiSeq	Phase_I	68	15	NM_133372	0	0	0	0	0	D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	C	36	5.709610	0.96821	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461;ENST00000511848	T;T;T;T	0.47528	1.83;1.67;1.57;0.84	5.6	5.6	0.85130	.	.	.	.	.	T	0.73473	0.3591	M	0.83012	2.62	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.91635	0.998;0.994;0.998;0.999	T	0.76340	-0.2995	9	0.87932	D	0	-7.1358	19.9737	0.97296	0.0:1.0:0.0:0.0	.	288;288;260;288	A8K8V8;Q8TF40-2;Q8TF40-3;Q8TF40	.;.;.;FNIP1_HUMAN	L	260;243;48;288;288	ENSP00000309266:R260L;ENSP00000310453:R243L;ENSP00000421985:R288L;ENSP00000425619:R288L	ENSP00000310453:R243L	R	-	2	0	FNIP1	131070054	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.776000	0.85560	2.793000	0.96121	0.591000	0.81541	CGT	.		0.453	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372	
HIVEP1	3096	broad.mit.edu	37	6	12123740	12123740	+	Silent	SNP	T	T	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr6:12123740T>C	ENST00000379388.2	+	4	4044	c.3712T>C	c.(3712-3714)Ttg>Ctg	p.L1238L	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1238					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCCAGAGATTTTGGTCACAGA	0.473																																					p.L1238L													.	HIVEP1-139	0			c.T3712C						.						65.0	62.0	63.0					6																	12123740		1929	4137	6066	SO:0001819	synonymous_variant	3096	exon4			GAGATTTTGGTCA	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.3712T>C	6.37:g.12123740T>C		Somatic	117	0		WXS	Illumina HiSeq	Phase_I	67	4	NM_002114	0	0	0	0	0	B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	ENST00000379388.2	37	CCDS43426.1																																																																																			.		0.473	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114	
HLA-DQA2	3118	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	32713781	32713781	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr6:32713781C>T	ENST00000374940.3	+	3	647	c.545C>T	c.(544-546)tCt>tTt	p.S182F		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	182	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""""""Insulin(DB00071)"""	TTCCTCCCTTCTGCTGATGAG	0.502																																					p.S182F		.											.	HLA-DQA2-90	0			c.C545T						.						191.0	211.0	204.0					6																	32713781		1511	2707	4218	SO:0001583	missense	3118	exon3			TCCCTTCTGCTGA		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.545C>T	6.37:g.32713781C>T	ENSP00000364076:p.Ser182Phe	Somatic	417	1		WXS	Illumina HiSeq	Phase_I	286	92	NM_020056	0	0	437	437	0	A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Missense_Mutation	SNP	ENST00000374940.3	37	CCDS4753.1	.	.	.	.	.	.	.	.	.	.	.	13.77	2.336406	0.41398	.	.	ENSG00000237541	ENST00000374940	T	0.03152	4.03	3.06	2.06	0.26882	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.585185	0.16577	U	0.208364	T	0.10035	0.0246	M	0.89478	3.035	0.30030	N	0.813521	D	0.89917	1.0	D	0.97110	1.0	T	0.01553	-1.1326	10	0.66056	D	0.02	.	7.1176	0.25424	0.4092:0.5908:0.0:0.0	.	182	P01906	DQA2_HUMAN	F	182	ENSP00000364076:S182F	ENSP00000364076:S182F	S	+	2	0	HLA-DQA2	32821759	0.009000	0.17119	0.999000	0.59377	0.758000	0.43043	0.626000	0.24492	1.700000	0.51204	0.174000	0.16983	TCT	.		0.502	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056	
LEMD2	221496	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	33748926	33748926	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr6:33748926A>C	ENST00000293760.5	-	4	877	c.858T>G	c.(856-858)aaT>aaG	p.N286K	LEMD2_ENST00000502643.1_5'UTR|LEMD2_ENST00000508327.1_5'UTR	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	286					negative regulation of MAPK cascade (GO:0043409)|skeletal muscle cell differentiation (GO:0035914)	integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear membrane (GO:0031965)				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						CACACTCAAAATTACCTAGGA	0.368																																					p.N286K		.											.	LEMD2-90	0			c.T858G						.						74.0	68.0	70.0					6																	33748926		2203	4300	6503	SO:0001583	missense	221496	exon4			CTCAAAATTACCT		CCDS4785.1, CCDS47411.1	6p21.31	2009-11-06			ENSG00000161904	ENSG00000161904			21244	protein-coding gene	gene with protein product						12477932	Standard	NM_001143944		Approved	dJ482C21.1, NET25	uc011drm.2	Q8NC56	OTTHUMG00000014535	ENST00000293760.5:c.858T>G	6.37:g.33748926A>C	ENSP00000293760:p.Asn286Lys	Somatic	115	0		WXS	Illumina HiSeq	Phase_I	152	49	NM_181336	0	0	0	2	2	B4DVH5|E7EVT2|Q5T972|Q5T974	Missense_Mutation	SNP	ENST00000293760.5	37	CCDS4785.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.71|19.71	3.877584|3.877584	0.72294|0.72294	.|.	.|.	ENSG00000161904|ENSG00000161904	ENST00000442696|ENST00000293760	.|.	.|.	.|.	5.65|5.65	3.27|3.27	0.37495|0.37495	.|Inner nuclear membrane protein MAN1 (1);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.33876|0.33876	0.0878|0.0878	L|L	0.35414|0.35414	1.06|1.06	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.64595	.|0.927	T|T	0.40664|0.40664	-0.9551|-0.9551	5|9	.|0.06099	.|T	.|0.92	-4.6423|-4.6423	8.5956|8.5956	0.33714|0.33714	0.8505:0.0:0.1495:0.0|0.8505:0.0:0.1495:0.0	.|.	.|286	.|Q8NC56	.|LEMD2_HUMAN	S|K	152|286	.|.	.|ENSP00000293760:N286K	I|N	-|-	2|3	0|2	LEMD2|LEMD2	33856904|33856904	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.063000|2.063000	0.41423|0.41423	0.432000|0.432000	0.26286|0.26286	0.533000|0.533000	0.62120|0.62120	ATT|AAT	.		0.368	LEMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040209.3	XM_166338	
TTBK1	84630	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	43251695	43251695	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr6:43251695C>A	ENST00000259750.4	+	14	3300	c.3217C>A	c.(3217-3219)Ctg>Atg	p.L1073M		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1073					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CTCAGGCTCACTGTCGGCCAA	0.687																																					p.L1073M		.											.	TTBK1-353	0			c.C3217A						.						18.0	19.0	18.0					6																	43251695		2183	4238	6421	SO:0001583	missense	84630	exon14			GGCTCACTGTCGG	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.3217C>A	6.37:g.43251695C>A	ENSP00000259750:p.Leu1073Met	Somatic	85	0		WXS	Illumina HiSeq	Phase_I	121	46	NM_032538	0	0	0	0	0	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945410	0.34377	.	.	ENSG00000146216	ENST00000259750	T	0.55413	0.52	5.02	3.14	0.36123	.	0.348022	0.23768	N	0.044741	T	0.27349	0.0671	L	0.36672	1.1	0.80722	D	1	B	0.19200	0.034	B	0.14023	0.01	T	0.30736	-0.9968	10	0.56958	D	0.05	.	11.2746	0.49159	0.1311:0.7259:0.143:0.0	.	1073	Q5TCY1	TTBK1_HUMAN	M	1073	ENSP00000259750:L1073M	ENSP00000259750:L1073M	L	+	1	2	TTBK1	43359673	0.733000	0.28132	0.999000	0.59377	0.950000	0.60333	1.377000	0.34317	2.326000	0.78906	0.455000	0.32223	CTG	.		0.687	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3		
HTR1B	3351	broad.mit.edu	37	6	78172192	78172192	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr6:78172192C>T	ENST00000369947.2	-	1	1298	c.929G>A	c.(928-930)cGc>cAc	p.R310H		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	310					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GGTGGCTTTGCGCTCCCTAGC	0.522																																					p.R310H													.	HTR1B-90	0			c.G929A						.						172.0	175.0	174.0					6																	78172192		2203	4300	6503	SO:0001583	missense	3351	exon1			GCTTTGCGCTCCC	BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5287	protein-coding gene	gene with protein product		182131	"""5-hydroxytryptamine (serotonin) receptor 1B"""			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.929G>A	6.37:g.78172192C>T	ENSP00000358963:p.Arg310His	Somatic	506	0		WXS	Illumina HiSeq	Phase_I	679	7	NM_000863	0	0	1	1	0	Q4VAY7	Missense_Mutation	SNP	ENST00000369947.2	37	CCDS4986.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084919	0.76642	.	.	ENSG00000135312	ENST00000369947	T	0.73681	-0.77	5.31	5.31	0.75309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.81192	0.4771	L	0.56396	1.775	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.78690	-0.2106	9	.	.	.	.	18.1467	0.89659	0.0:1.0:0.0:0.0	.	310	P28222	5HT1B_HUMAN	H	310	ENSP00000358963:R310H	.	R	-	2	0	HTR1B	78228911	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.798000	0.55522	2.767000	0.95098	0.561000	0.74099	CGC	.		0.522	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1	NM_000863	
ROS1	6098	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	117746764	117746764	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr6:117746764C>G	ENST00000368508.3	-	1	254	c.56G>C	c.(55-57)tGc>tCc	p.C19S	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.C19S	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	19					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AATCCATAGGCAGCCAAGAGT	0.388			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																p.C19S		.		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	.	ROS1-1353	0			c.G56C						.						120.0	119.0	119.0					6																	117746764		2203	4300	6503	SO:0001583	missense	6098	exon1			CATAGGCAGCCAA	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.56G>C	6.37:g.117746764C>G	ENSP00000357494:p.Cys19Ser	Somatic	287	0		WXS	Illumina HiSeq	Phase_I	135	41	NM_002944	0	0	0	0	0	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.155746	0.38021	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.70631	-0.5;-0.5	5.11	2.22	0.28083	.	0.273852	0.26757	N	0.022646	T	0.41766	0.1173	L	0.51422	1.61	0.80722	D	1	B	0.14438	0.01	B	0.06405	0.002	T	0.42649	-0.9439	10	0.62326	D	0.03	.	3.545	0.07826	0.175:0.5642:0.1691:0.0917	.	19	P08922	ROS1_HUMAN	S	19	ENSP00000357494:C19S;ENSP00000357493:C19S	ENSP00000357493:C19S	C	-	2	0	ROS1	117853457	0.849000	0.29639	0.992000	0.48379	0.875000	0.50365	0.358000	0.20216	0.366000	0.24427	0.655000	0.94253	TGC	.		0.388	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		
TMEM184A	202915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	1590513	1590513	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr7:1590513G>A	ENST00000297477.5	-	3	641	c.325C>T	c.(325-327)Ctc>Ttc	p.L109F		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	109					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CCGAGGAGGAGGAGGCTGAGC	0.632																																					p.L109F		.											.	TMEM184A-90	0			c.C325T						.						88.0	97.0	94.0					7																	1590513		2203	4300	6503	SO:0001583	missense	202915	exon3			GGAGGAGGAGGCT		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.325C>T	7.37:g.1590513G>A	ENSP00000297477:p.Leu109Phe	Somatic	120	0		WXS	Illumina HiSeq	Phase_I	200	47	NM_001097620	0	0	0	0	0	Q8TBQ6	Missense_Mutation	SNP	ENST00000297477.5	37	CCDS43537.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153532	0.78114	.	.	ENSG00000164855	ENST00000297477;ENST00000319010;ENST00000414730;ENST00000441933;ENST00000431208	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	5.15	5.15	0.70609	.	0.000000	0.64402	U	0.000001	T	0.52677	0.1749	M	0.70787	2.145	0.80722	D	1	P	0.36599	0.56	B	0.41813	0.367	T	0.56450	-0.7977	10	0.51188	T	0.08	-14.3095	12.9955	0.58644	0.0782:0.0:0.9218:0.0	.	109	Q6ZMB5	T184A_HUMAN	F	109	ENSP00000297477:L109F;ENSP00000325945:L109F;ENSP00000398382:L109F;ENSP00000389092:L109F;ENSP00000403499:L109F	ENSP00000297477:L109F	L	-	1	0	TMEM184A	1557039	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.819000	0.86621	2.396000	0.81511	0.407000	0.27541	CTC	.		0.632	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689	
TWISTNB	221830	hgsc.bcm.edu	37	7	19738026	19738026	+	Silent	SNP	T	T	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr7:19738026T>C	ENST00000222567.5	-	4	1000	c.930A>G	c.(928-930)aaA>aaG	p.K310K		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	310	Lys-rich.				transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						TTCTTTTCTTTTTTTTCTTTT	0.373																																					p.K310K		.											.	TWISTNB-91	0			c.A930G						.						106.0	118.0	114.0					7																	19738026		2199	4298	6497	SO:0001819	synonymous_variant	221830	exon4			TTTCTTTTTTTTC	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.930A>G	7.37:g.19738026T>C		Somatic	451	0		WXS	Illumina HiSeq	Phase_I	73	5	NM_001002926	0	0	12	12	0	A0PJ45|B7Z724	Silent	SNP	ENST00000222567.5	37	CCDS34606.1																																																																																			.		0.373	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1		
UPK3B	80761	hgsc.bcm.edu	37	7	76141063	76141063	+	Missense_Mutation	SNP	C	C	G	rs144200247		TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr7:76141063C>G	ENST00000257632.5	+	2	618	c.490C>G	c.(490-492)Ctg>Gtg	p.L164V	UPK3B_ENST00000443097.2_Missense_Mutation_p.L109V|UPK3B_ENST00000419923.2_Missense_Mutation_p.L164V|UPK3B_ENST00000334348.3_Missense_Mutation_p.L109V|UPK3B_ENST00000394849.1_Missense_Mutation_p.L109V|UPK3B_ENST00000448265.3_Missense_Mutation_p.L164V			Q9BT76	UPK3B_HUMAN	uroplakin 3B	164					negative regulation of gene expression (GO:0010629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L164V(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				GACGCTGCCCCTGTCTCCGGA	0.697																																					p.L164V		.											.	UPK3B-90	1	Substitution - Missense(1)	skin(1)	c.C490G						.						21.0	20.0	20.0					7																	76141063		2203	4299	6502	SO:0001583	missense	80761	exon2			CTGCCCCTGTCTC	BC004304	CCDS5588.1, CCDS5589.1, CCDS64693.1	7q11.2	2003-07-29			ENSG00000243566	ENSG00000243566			21444	protein-coding gene	gene with protein product	"""uroplakin IIIb"""	611887				12446744	Standard	XM_005250612		Approved	MGC10902, p35, UPIIIb, FLJ32198	uc003ufq.3	Q9BT76	OTTHUMG00000149929	ENST00000257632.5:c.490C>G	7.37:g.76141063C>G	ENSP00000257632:p.Leu164Val	Somatic	19	1		WXS	Illumina HiSeq	Phase_I	25	2	NM_030570	0	0	0	3	3	A6NHH5|A8K231|A8MZA8|B3KPU5|Q75MM5|Q86W06	Missense_Mutation	SNP	ENST00000257632.5	37	CCDS5588.1	.	.	.	.	.	.	.	.	.	.	.	10.24	1.296352	0.23650	.	.	ENSG00000243566	ENST00000334348;ENST00000419923;ENST00000448265;ENST00000443097;ENST00000257632;ENST00000394849	T;T;T;T;T;T	0.54866	0.55;1.46;1.46;0.55;1.46;1.46	5.23	-0.358	0.12575	.	0.561141	0.16477	N	0.212696	T	0.29556	0.0737	N	0.20986	0.625	0.23747	N	0.996959	P;P;B	0.37731	0.607;0.607;0.211	B;B;B	0.37650	0.187;0.255;0.081	T	0.10359	-1.0633	10	0.30078	T	0.28	-1.9253	1.7196	0.02908	0.156:0.3644:0.305:0.1747	.	109;164;109	Q9BT76-2;Q9BT76;A6NHH5	.;UPK3B_HUMAN;.	V	109;164;164;109;164;109	ENSP00000334938:L109V;ENSP00000441602:L164V;ENSP00000441284:L164V;ENSP00000444585:L109V;ENSP00000257632:L164V;ENSP00000378319:L109V	ENSP00000257632:L164V	L	+	1	2	UPK3B	75978999	0.955000	0.32602	0.996000	0.52242	0.165000	0.22458	0.149000	0.16243	-0.064000	0.13043	0.467000	0.42956	CTG	C|0.500;G|0.500		0.697	UPK3B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313978.2	NM_030570	
PCLO	27445	hgsc.bcm.edu;broad.mit.edu	37	7	82763635	82763635	+	Silent	SNP	A	A	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr7:82763635A>G	ENST00000333891.9	-	3	3568	c.3231T>C	c.(3229-3231)aaT>aaC	p.N1077N	PCLO_ENST00000423517.2_Silent_p.N1077N	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGTGCAAGTATTGAAGTTAG	0.368																																					p.N1077N		.											.	PCLO-29	0			c.T3231C						.						50.0	46.0	47.0					7																	82763635		1862	4102	5964	SO:0001819	synonymous_variant	27445	exon3			GCAAGTATTGAAG	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3231T>C	7.37:g.82763635A>G		Somatic	40	0		WXS	Illumina HiSeq	Phase_I	51	12	NM_014510	0	0	0	0	0		Silent	SNP	ENST00000333891.9	37	CCDS47630.1																																																																																			.		0.368	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
TFR2	7036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	100228607	100228607	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr7:100228607C>T	ENST00000462107.1	-	10	1462	c.1175G>A	c.(1174-1176)gGc>gAc	p.G392D	TFR2_ENST00000431692.1_Silent_p.G306G|TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.G392D			Q9UP52	TFR2_HUMAN	transferrin receptor 2	392					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	TGGCCCGGGGCCCAGGTGATA	0.612																																					p.G392D		.											.	TFR2-92	0			c.G1175A						.						35.0	34.0	35.0					7																	100228607		2203	4300	6503	SO:0001583	missense	7036	exon9			CCGGGGCCCAGGT	AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.1175G>A	7.37:g.100228607C>T	ENSP00000420525:p.Gly392Asp	Somatic	34	0		WXS	Illumina HiSeq	Phase_I	83	23	NM_003227	0	0	0	1	1	A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Missense_Mutation	SNP	ENST00000462107.1	37	CCDS34707.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012638	0.75161	.	.	ENSG00000106327	ENST00000223051;ENST00000462107	T;T	0.52983	0.64;0.64	4.74	4.74	0.60224	.	0.144170	0.45867	D	0.000322	T	0.70684	0.3252	M	0.91768	3.24	0.80722	D	1	D	0.69078	0.997	D	0.64042	0.921	T	0.73943	-0.3823	10	0.34782	T	0.22	-26.2357	13.0917	0.59169	0.0:1.0:0.0:0.0	.	392	Q9UP52	TFR2_HUMAN	D	392	ENSP00000223051:G392D;ENSP00000420525:G392D	ENSP00000223051:G392D	G	-	2	0	TFR2	100066543	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	1.935000	0.40173	2.470000	0.83445	0.561000	0.74099	GGC	.		0.612	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3	NM_003227	
CHRM2	1129	hgsc.bcm.edu	37	7	136699700	136699700	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr7:136699700G>C	ENST00000445907.2	+	3	616	c.88G>C	c.(88-90)Gct>Cct	p.A30P	hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.A30P|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.A30P|CHRM2_ENST00000397608.3_Missense_Mutation_p.A30P|CHRM2_ENST00000401861.1_Missense_Mutation_p.A30P|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.A30P|hsa-mir-490_ENST00000597642.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	30					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TGTCCTGGTGGCTGGATCCCT	0.413																																					p.A30P		.											.	CHRM2-94	0			c.G88C						.						133.0	124.0	127.0					7																	136699700		2203	4300	6503	SO:0001583	missense	1129	exon3			CTGGTGGCTGGAT		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.88G>C	7.37:g.136699700G>C	ENSP00000399745:p.Ala30Pro	Somatic	181	0		WXS	Illumina HiSeq	Phase_I	32	2	NM_001006632	0	0	0	0	0	Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344116	0.82022	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.48714	0.1515	L	0.58810	1.83	0.80722	D	1	D	0.54047	0.964	P	0.50791	0.65	T	0.51474	-0.8701	10	0.62326	D	0.03	-7.9379	18.8324	0.92145	0.0:0.0:1.0:0.0	.	30	P08172	ACM2_HUMAN	P	30	ENSP00000399745:A30P;ENSP00000415386:A30P;ENSP00000319984:A30P;ENSP00000380733:A30P;ENSP00000384937:A30P;ENSP00000384401:A30P	ENSP00000319984:A30P	A	+	1	0	CHRM2	136350240	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.964000	0.87933	2.445000	0.82738	0.585000	0.79938	GCT	.		0.413	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1		
KMT2C	58508	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	151882674	151882674	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr7:151882674T>G	ENST00000262189.6	-	34	5269	c.5051A>C	c.(5050-5052)aAa>aCa	p.K1684T	KMT2C_ENST00000355193.2_Missense_Mutation_p.K1684T	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1684					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGAGCTTGCTTTTCTCCACAA	0.343																																					p.K1684T		.											.	MLL3-1398	0			c.A5051C						.						142.0	123.0	130.0					7																	151882674		2202	4300	6502	SO:0001583	missense	58508	exon34			CTTGCTTTTCTCC	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5051A>C	7.37:g.151882674T>G	ENSP00000262189:p.Lys1684Thr	Somatic	206	0		WXS	Illumina HiSeq	Phase_I	131	13	NM_170606	0	0	0	0	0	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	17.93	3.508980	0.64410	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.93604	-3.25;-3.25	5.03	5.03	0.67393	High mobility group, HMG1/HMG2 (1);	0.000000	0.49305	D	0.000155	D	0.94496	0.8228	L	0.38175	1.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.94705	0.7887	10	0.51188	T	0.08	.	14.7869	0.69810	0.0:0.0:0.0:1.0	.	1684;745	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	T	1684	ENSP00000262189:K1684T;ENSP00000347325:K1684T	ENSP00000262189:K1684T	K	-	2	0	MLL3	151513607	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.888000	0.87302	1.889000	0.54706	0.523000	0.50628	AAA	.		0.343	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
AGPAT5	55326	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	6614714	6614714	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr8:6614714T>A	ENST00000285518.6	+	8	1212	c.900T>A	c.(898-900)gaT>gaA	p.D300E		NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	300					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		AGTCACCAGATCCAGAAAGAA	0.323																																					p.D300E		.											.	AGPAT5-90	0			c.T900A						.						44.0	45.0	45.0					8																	6614714		2203	4300	6503	SO:0001583	missense	55326	exon8			ACCAGATCCAGAA	AF375789	CCDS34796.1	8p23.1	2013-02-05	2013-02-05		ENSG00000155189	ENSG00000155189	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20886	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, epsilon"""	614796	"""1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon)"""				Standard	NM_018361		Approved	FLJ11210, LPAAT-e, LPAAT-epsilon	uc003wqo.3	Q9NUQ2	OTTHUMG00000163656	ENST00000285518.6:c.900T>A	8.37:g.6614714T>A	ENSP00000285518:p.Asp300Glu	Somatic	91	0		WXS	Illumina HiSeq	Phase_I	15	8	NM_018361	0	0	2	5	3	Q8IZ47|Q9BQG4	Missense_Mutation	SNP	ENST00000285518.6	37	CCDS34796.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.60|19.60	3.858531|3.858531	0.71834|0.71834	.|.	.|.	ENSG00000155189|ENSG00000155189	ENST00000285518|ENST00000518327	T|.	0.62232|.	0.04|.	6.04|6.04	2.42|2.42	0.29668|0.29668	.|.	0.087594|.	0.85682|.	D|.	0.000000|.	T|T	0.62624|0.62624	0.2443|0.2443	M|M	0.72576|0.72576	2.205|2.205	0.53005|0.53005	D|D	0.999968|0.999968	P|.	0.37663|.	0.604|.	B|.	0.34779|.	0.189|.	T|T	0.56932|0.56932	-0.7897|-0.7897	10|5	0.09843|.	T|.	0.71|.	-7.4458|-7.4458	7.7568|7.7568	0.28930|0.28930	0.0:0.3185:0.0:0.6815|0.0:0.3185:0.0:0.6815	.|.	300|.	Q9NUQ2|.	PLCE_HUMAN|.	E|N	300|117	ENSP00000285518:D300E|.	ENSP00000285518:D300E|.	D|I	+|+	3|2	2|0	AGPAT5|AGPAT5	6602122|6602122	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.618000|1.618000	0.36954|0.36954	0.190000|0.190000	0.20209|0.20209	0.459000|0.459000	0.35465|0.35465	GAT|ATC	.		0.323	AGPAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374684.1	NM_018361	
TNKS	8658	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	9413684	9413684	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr8:9413684C>G	ENST00000310430.6	+	1	261	c.235C>G	c.(235-237)Cga>Gga	p.R79G	TNKS_ENST00000520408.1_Missense_Mutation_p.R79G|TNKS_ENST00000522110.1_Missense_Mutation_p.R79G|RP11-375N15.2_ENST00000607598.1_RNA	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	79					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)	p.R79*(2)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CGACAGGCCCCGATCCCCGGA	0.701																																					p.R79G		.											.	TNKS-660	2	Substitution - Nonsense(2)	large_intestine(2)	c.C235G						.						23.0	26.0	25.0					8																	9413684		2202	4299	6501	SO:0001583	missense	8658	exon1			AGGCCCCGATCCC	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.235C>G	8.37:g.9413684C>G	ENSP00000311579:p.Arg79Gly	Somatic	75	0		WXS	Illumina HiSeq	Phase_I	103	27	NM_003747	0	0	0	0	0	O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.337846	0.41398	.	.	ENSG00000173273	ENST00000520408;ENST00000310430;ENST00000522110	T;T	0.62788	0.0;0.05	4.84	2.01	0.26516	.	0.123149	0.33457	N	0.004900	T	0.41096	0.1144	N	0.19112	0.55	0.26334	N	0.977462	B;B	0.17038	0.006;0.02	B;B	0.12837	0.008;0.008	T	0.28618	-1.0038	10	0.51188	T	0.08	.	5.6253	0.17478	0.3245:0.5507:0.0:0.1248	.	79;79	E7EWY6;O95271	.;TNKS1_HUMAN	G	79	ENSP00000428299:R79G;ENSP00000311579:R79G	ENSP00000311579:R79G	R	+	1	2	TNKS	9451094	0.020000	0.18652	0.999000	0.59377	0.985000	0.73830	0.272000	0.18644	0.719000	0.32188	-0.169000	0.13324	CGA	.		0.701	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747	
CCAR2	57805	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	22464154	22464154	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr8:22464154T>A	ENST00000308511.4	+	4	434	c.185T>A	c.(184-186)gTt>gAt	p.V62D	CCAR2_ENST00000389279.3_Missense_Mutation_p.V62D|CCAR2_ENST00000520861.1_5'Flank|CCAR2_ENST00000521301.1_Missense_Mutation_p.V62D			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	62					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										ACTGGTATTGTTACCAGCTTG	0.463																																					p.V62D		.											.	KIAA1967-92	0			c.T185A						.						154.0	131.0	139.0					8																	22464154		2203	4300	6503	SO:0001583	missense	57805	exon4			GTATTGTTACCAG	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.185T>A	8.37:g.22464154T>A	ENSP00000310670:p.Val62Asp	Somatic	109	0		WXS	Illumina HiSeq	Phase_I	159	51	NM_021174	0	0	6	7	1	A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Missense_Mutation	SNP	ENST00000308511.4	37	CCDS34863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.9|24.9	4.584955|4.584955	0.86748|0.86748	.|.	.|.	ENSG00000158941|ENSG00000158941	ENST00000523801;ENST00000518989|ENST00000308511;ENST00000521301;ENST00000389279;ENST00000521837;ENST00000523349	.|T;T	.|0.61040	.|0.14;0.14	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.000000	.|0.64402	.|D	.|0.000004	.|T	.|0.76905	.|0.4053	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	.|T	.|0.80108	.|-0.1520	.|10	.|0.87932	.|D	.|0	-21.0092|-21.0092	14.0962|14.0962	0.65023|0.65023	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|62	.|Q8N163	.|K1967_HUMAN	X|D	69;14|62	.|ENSP00000310670:V62D;ENSP00000373930:V62D	.|ENSP00000310670:V62D	C|V	+|+	3|2	2|0	KIAA1967|KIAA1967	22520099|22520099	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	6.291000|6.291000	0.72719|0.72719	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	TGT|GTT	.		0.463	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174	
ZNF703	80139	hgsc.bcm.edu	37	8	37555597	37555597	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr8:37555597G>A	ENST00000331569.4	+	2	1407	c.1178G>A	c.(1177-1179)gGc>gAc	p.G393D		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	393	Gly-rich.				adherens junction assembly (GO:0034333)|cellular response to estradiol stimulus (GO:0071392)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			CACCTCGGCGGCTCCAGCTGC	0.736																																					p.G393D		.											.	ZNF703-523	0			c.G1178A						.						4.0	5.0	4.0					8																	37555597		1919	4041	5960	SO:0001583	missense	80139	exon2			TCGGCGGCTCCAG	AK024361	CCDS6094.1	8p12	2008-05-02				ENSG00000183779			25883	protein-coding gene	gene with protein product						15897872	Standard	NM_025069		Approved	FLJ14299, ZNF503L	uc003xjy.1	Q9H7S9		ENST00000331569.4:c.1178G>A	8.37:g.37555597G>A	ENSP00000332325:p.Gly393Asp	Somatic	7	2		WXS	Illumina HiSeq	Phase_I	14	5	NM_025069	0	0	2	2	0	Q5XG76	Missense_Mutation	SNP	ENST00000331569.4	37	CCDS6094.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586864	0.66105	.	.	ENSG00000183779	ENST00000331569	T	0.50277	0.75	4.36	4.36	0.52297	.	0.117667	0.56097	D	0.000023	T	0.60353	0.2262	M	0.62723	1.935	0.49483	D	0.999794	D	0.69078	0.997	P	0.60682	0.878	T	0.64228	-0.6457	10	0.66056	D	0.02	-15.3273	11.8916	0.52633	0.0:0.3359:0.6641:0.0	.	393	Q9H7S9	ZN703_HUMAN	D	393	ENSP00000332325:G393D	ENSP00000332325:G393D	G	+	2	0	ZNF703	37674755	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	4.127000	0.57944	1.980000	0.57719	0.462000	0.41574	GGC	.		0.736	ZNF703-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376683.2	NM_025069	
WWP1	11059	hgsc.bcm.edu	37	8	87460473	87460473	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr8:87460473A>G	ENST00000517970.1	+	19	2402	c.2095A>G	c.(2095-2097)Att>Gtt	p.I699V	WWP1_ENST00000265428.4_Missense_Mutation_p.I699V|WWP1_ENST00000349423.2_Missense_Mutation_p.I481V|WWP1_ENST00000341922.2_Missense_Mutation_p.I569V	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	699	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TTTGGAATCTATTGATACTGA	0.294																																					p.I699V		.											.	WWP1-659	0			c.A2095G						.						45.0	47.0	47.0					8																	87460473		2193	4277	6470	SO:0001583	missense	11059	exon19			GAATCTATTGATA	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.2095A>G	8.37:g.87460473A>G	ENSP00000427793:p.Ile699Val	Somatic	137	0		WXS	Illumina HiSeq	Phase_I	30	2	NM_007013	0	0	14	14	0	O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	CCDS6242.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.202|7.202	0.593727|0.593727	0.13875|0.13875	.|.	.|.	ENSG00000123124|ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423|ENST00000520453	T;T;T;T|.	0.58210|.	0.35;0.35;0.35;0.35|.	5.5|5.5	5.5|5.5	0.81552|0.81552	HECT (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.34890|0.34890	0.0913|0.0913	N|N	0.03238|0.03238	-0.38|-0.38	0.80722|0.80722	D|D	1|1	B;B|.	0.14805|.	0.0;0.011|.	B;B|.	0.17722|.	0.001;0.019|.	T|T	0.32613|0.32613	-0.9900|-0.9900	10|5	0.02654|.	T|.	1|.	.|.	15.6043|15.6043	0.76649|0.76649	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	481;699|.	Q9H0M0-6;Q9H0M0|.	.;WWP1_HUMAN|.	V|C	699;699;569;481|199	ENSP00000427793:I699V;ENSP00000265428:I699V;ENSP00000340564:I569V;ENSP00000342665:I481V|.	ENSP00000265428:I699V|.	I|Y	+|+	1|2	0|0	WWP1|WWP1	87529589|87529589	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.998000|0.998000	0.95712|0.95712	7.469000|7.469000	0.80959|0.80959	2.095000|2.095000	0.63458|0.63458	0.533000|0.533000	0.62120|0.62120	ATT|TAT	.		0.294	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013	
MTDH	92140	hgsc.bcm.edu	37	8	98657042	98657042	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr8:98657042T>C	ENST00000336273.3	+	1	636	c.308T>C	c.(307-309)cTg>cCg	p.L103P	MTDH_ENST00000519934.1_Missense_Mutation_p.L80P	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	103	Interaction with BCCIP.|Interaction with RELA.				lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			cccgACGACCTGGCCTTGCTG	0.677																																					p.L103P		.											.	MTDH-91	0			c.T308C						.						7.0	8.0	8.0					8																	98657042		1857	3786	5643	SO:0001583	missense	92140	exon1			ACGACCTGGCCTT	AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.308T>C	8.37:g.98657042T>C	ENSP00000338235:p.Leu103Pro	Somatic	34	0		WXS	Illumina HiSeq	Phase_I	34	3	NM_178812	0	0	2	2	0	Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	ENST00000336273.3	37	CCDS6274.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.560|8.560	0.877643|0.877643	0.17395|0.17395	.|.	.|.	ENSG00000147649|ENSG00000147649	ENST00000336273;ENST00000519934|ENST00000522313	T;T|.	0.08634|.	3.07;3.07|.	4.82|4.82	-6.07|-6.07	0.02158|0.02158	.|.	1.663720|.	0.03201|.	N|.	0.174788|.	T|T	0.13329|0.13329	0.0323|0.0323	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999992|0.999992	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.28004|0.28004	-1.0057|-1.0057	10|5	0.34782|.	T|.	0.22|.	6.3514|6.3514	4.9943|4.9943	0.14230|0.14230	0.1221:0.5219:0.1257:0.2303|0.1221:0.5219:0.1257:0.2303	.|.	103|.	Q86UE4|.	LYRIC_HUMAN|.	P|R	103;80|8	ENSP00000338235:L103P;ENSP00000428168:L80P|.	ENSP00000338235:L103P|.	L|W	+|+	2|1	0|0	MTDH|MTDH	98726218|98726218	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.630000|0.630000	0.37929|0.37929	-0.690000|-0.690000	0.05138|0.05138	-0.831000|-0.831000	0.04256|0.04256	0.482000|0.482000	0.46254|0.46254	CTG|TGG	.		0.677	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2		
KCNS2	3788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	99441267	99441267	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr8:99441267G>T	ENST00000287042.4	+	2	1410	c.1060G>T	c.(1060-1062)Gag>Tag	p.E354*	KCNS2_ENST00000521839.1_Nonsense_Mutation_p.E354*	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	354					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TGAAAAGGAGGAGAACGAGGG	0.577																																					p.E354X	Pancreas(138;844 2489 9202 24627)	.											.	KCNS2-91	0			c.G1060T						.						89.0	80.0	83.0					8																	99441267		2203	4300	6503	SO:0001587	stop_gained	3788	exon2			AAGGAGGAGAACG	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.1060G>T	8.37:g.99441267G>T	ENSP00000287042:p.Glu354*	Somatic	148	0		WXS	Illumina HiSeq	Phase_I	202	51	NM_020697	0	0	0	0	0	A8KAN1	Nonsense_Mutation	SNP	ENST00000287042.4	37	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	G	40	8.203350	0.98704	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	.	.	.	5.91	5.91	0.95273	.	0.158483	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.3052	0.98627	0.0:0.0:1.0:0.0	.	.	.	.	X	354	.	ENSP00000287042:E354X	E	+	1	0	KCNS2	99510443	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	9.869000	0.99810	2.808000	0.96608	0.655000	0.94253	GAG	.		0.577	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697	
FAM135B	51059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	139164000	139164000	+	Silent	SNP	G	G	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr8:139164000G>T	ENST00000395297.1	-	13	2888	c.2718C>A	c.(2716-2718)ggC>ggA	p.G906G		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	906										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTTTAGGCATGCCCTTTGGGG	0.458										HNSCC(54;0.14)																											p.G906G		.											.	FAM135B-31	0			c.C2718A						.						128.0	126.0	127.0					8																	139164000		2203	4300	6503	SO:0001819	synonymous_variant	51059	exon13			AGGCATGCCCTTT	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2718C>A	8.37:g.139164000G>T		Somatic	307	0		WXS	Illumina HiSeq	Phase_I	335	98	NM_015912	0	0	0	0	0	B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	CCDS6375.2																																																																																			.		0.458	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	
FAM135B	51059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	139164004	139164004	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr8:139164004T>C	ENST00000395297.1	-	13	2884	c.2714A>G	c.(2713-2715)aAg>aGg	p.K905R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	905										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGGCATGCCCTTTGGGGTTTC	0.468										HNSCC(54;0.14)																											p.K905R		.											.	FAM135B-31	0			c.A2714G						.						125.0	124.0	124.0					8																	139164004		2203	4300	6503	SO:0001583	missense	51059	exon13			ATGCCCTTTGGGG	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2714A>G	8.37:g.139164004T>C	ENSP00000378710:p.Lys905Arg	Somatic	310	0		WXS	Illumina HiSeq	Phase_I	338	94	NM_015912	0	0	0	0	0	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	T	15.06	2.721538	0.48728	.	.	ENSG00000147724	ENST00000395297	T	0.16597	2.33	5.33	4.15	0.48705	.	0.392353	0.28031	N	0.016877	T	0.19127	0.0459	L	0.32530	0.975	0.09310	N	1	P;P;B	0.51351	0.944;0.728;0.164	P;B;B	0.50617	0.646;0.343;0.04	T	0.04017	-1.0984	10	0.46703	T	0.11	-11.8381	9.5929	0.39557	0.1559:0.0:0.0:0.8441	.	905;905;905	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	R	905	ENSP00000378710:K905R	ENSP00000276737:K905R	K	-	2	0	FAM135B	139233186	0.652000	0.27349	0.013000	0.15412	0.286000	0.27126	4.148000	0.58085	0.833000	0.34828	0.533000	0.62120	AAG	.		0.468	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912	
UNC13B	10497	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	35375163	35375163	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr9:35375163A>G	ENST00000378495.3	+	13	1555	c.1333A>G	c.(1333-1335)Atg>Gtg	p.M445V	UNC13B_ENST00000396787.1_Missense_Mutation_p.M457V|UNC13B_ENST00000378496.4_Missense_Mutation_p.M445V	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	445					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CACTTCTGCAATGGCTACACG	0.537																																					p.M445V		.											.	UNC13B-157	0			c.A1333G						.						240.0	213.0	222.0					9																	35375163		2203	4300	6503	SO:0001583	missense	10497	exon13			TCTGCAATGGCTA	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.1333A>G	9.37:g.35375163A>G	ENSP00000367756:p.Met445Val	Somatic	447	1		WXS	Illumina HiSeq	Phase_I	369	223	NM_006377	0	0	0	0	0	Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.903474	0.33628	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	T;T;T	0.61040	0.14;0.14;0.14	5.81	3.16	0.36331	.	0.084309	0.85682	D	0.000000	T	0.40932	0.1137	L	0.28504	0.86	0.45295	D	0.998291	B;B	0.23806	0.091;0.03	B;B	0.24006	0.05;0.019	T	0.17228	-1.0376	10	0.26408	T	0.33	-19.0987	8.125	0.30992	0.6561:0.1107:0.0:0.2332	.	445;445	F8W8M9;O14795	.;UN13B_HUMAN	V	457;445;445;32	ENSP00000380006:M457V;ENSP00000367756:M445V;ENSP00000367757:M445V	ENSP00000367756:M445V	M	+	1	0	UNC13B	35365163	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.969000	0.56816	1.010000	0.39314	0.482000	0.46254	ATG	.		0.537	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377	
PTBP3	9991	bcgsc.ca	37	9	115013206	115013206	+	Intron	SNP	C	C	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr9:115013206C>A	ENST00000374255.2	-	8	1034				PTBP3_ENST00000334318.6_Intron|PTBP3_ENST00000374257.1_Intron|PTBP3_ENST00000343327.2_Intron|RNA5SP295_ENST00000362655.1_RNA|PTBP3_ENST00000458258.1_Intron			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3						anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										AAGAACTACTCACCAAAAGCA	0.403																																					.													.	.	0			.						.						115.0	123.0	120.0					9																	115013206		2203	4300	6503	SO:0001627	intron_variant	100422990	.			ACTACTCACCAAA	AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"""RNA binding motif (RRM) containing"""	10253	protein-coding gene	gene with protein product		607527	"""regulator of differentiation (in S. pombe) 1"", ""ROD1 regulator of differentiation 1 (S. pombe)"""	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.886+2G>T	9.37:g.115013206C>A		Somatic	282	1		WXS	Illumina HiSeq	Phase_1	26	16	.	0	0	0	0	0	B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	RNA	SNP	ENST00000374255.2	37	CCDS6784.1																																																																																			.		0.403	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053679.1		
ABL1	25	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	9	133748371	133748371	+	Silent	SNP	C	C	T			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr9:133748371C>T	ENST00000318560.5	+	6	1413	c.1032C>T	c.(1030-1032)gcC>gcT	p.A344A		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	344	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	TGTACATGGCCACTCAGATCT	0.577			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																p.A363A		.		Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	.	ABL1-3810	0			c.C1089T						.						73.0	59.0	64.0					9																	133748371		2203	4300	6503	SO:0001819	synonymous_variant	25	exon6			CATGGCCACTCAG	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1032C>T	9.37:g.133748371C>T		Somatic	137	0		WXS	Illumina HiSeq	Phase_I	143	90	NM_007313	0	0	1	1	0	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Silent	SNP	ENST00000318560.5	37	CCDS35166.1																																																																																			.		0.577	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313	
TBX22	50945	hgsc.bcm.edu	37	X	79286336	79286336	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chrX:79286336G>C	ENST00000373294.5	+	8	1317	c.1289G>C	c.(1288-1290)aGt>aCt	p.S430T	TBX22_ENST00000373296.3_Missense_Mutation_p.S430T|TBX22_ENST00000373291.1_Missense_Mutation_p.S310T|TBX22_ENST00000442340.1_Missense_Mutation_p.S310T	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	430					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GAAGACTCCAGTGATCAGTAT	0.428																																					p.S430T		.											.	TBX22-628	0			c.G1289C						.						132.0	125.0	128.0					X																	79286336		2203	4300	6503	SO:0001583	missense	50945	exon8			ACTCCAGTGATCA	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.1289G>C	X.37:g.79286336G>C	ENSP00000362390:p.Ser430Thr	Somatic	192	0		WXS	Illumina HiSeq	Phase_I	15	2	NM_016954	0	0	0	0	0	Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.568512	0.00133	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	4.12	-6.23	0.02052	.	14.083600	0.00166	N	0.000000	T	0.66287	0.2774	L	0.48642	1.525	0.09310	N	1	B	0.23937	0.094	B	0.22386	0.039	T	0.55541	-0.8125	10	0.07990	T	0.79	.	8.6398	0.33970	0.3387:0.0:0.5484:0.1129	.	430	Q9Y458	TBX22_HUMAN	T	430;310;430;310	ENSP00000362393:S430T;ENSP00000396394:S310T;ENSP00000362390:S430T;ENSP00000362388:S310T	ENSP00000362388:S310T	S	+	2	0	TBX22	79172992	0.362000	0.24980	0.000000	0.03702	0.002000	0.02628	-0.098000	0.11024	-1.700000	0.01414	-0.503000	0.04515	AGT	.		0.428	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954	
SLC6A8	6535	hgsc.bcm.edu	37	X	152956939	152956939	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chrX:152956939A>G	ENST00000253122.5	+	3	1051	c.575A>G	c.(574-576)aAt>aGt	p.N192S	SLC6A8_ENST00000430077.2_Missense_Mutation_p.N77S	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	192					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	GACTGTGCCAATGCCAGCCTG	0.622																																					p.N192S		.											.	SLC6A8-131	0			c.A575G						.						112.0	106.0	108.0					X																	152956939		2203	4300	6503	SO:0001583	missense	6535	exon3			GTGCCAATGCCAG		CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"""Solute carriers"""	11055	protein-coding gene	gene with protein product	"""creatine transporter"""	300036	"""solute carrier family 6 (neurotransmitter transporter, creatine), member 8"""			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.575A>G	X.37:g.152956939A>G	ENSP00000253122:p.Asn192Ser	Somatic	216	1		WXS	Illumina HiSeq	Phase_I	335	18	NM_005629	0	0	43	43	0	B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Missense_Mutation	SNP	ENST00000253122.5	37	CCDS14726.1	.	.	.	.	.	.	.	.	.	.	a	11.51	1.660944	0.29515	.	.	ENSG00000130821	ENST00000253122;ENST00000430077	T;T	0.74106	-0.81;-0.81	4.05	1.61	0.23674	.	.	.	.	.	T	0.59252	0.2180	L	0.35593	1.075	0.36406	D	0.863427	B;P;B	0.34724	0.213;0.465;0.078	B;B;B	0.33960	0.173;0.101;0.115	T	0.55673	-0.8104	9	0.39692	T	0.17	.	7.1433	0.25568	0.7987:0.0:0.2013:0.0	.	192;211;192	D3DWV2;Q59EV7;P48029	.;.;SC6A8_HUMAN	S	192;77	ENSP00000253122:N192S;ENSP00000403041:N77S	ENSP00000253122:N192S	N	+	2	0	SLC6A8	152610133	.	.	0.975000	0.42487	0.951000	0.60555	.	.	0.054000	0.16065	0.345000	0.21793	AAT	.		0.622	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1		
IRF2BP2	359948	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	234743056	234743058	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	AGC	AGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr1:234743056_234743058delAGC	ENST00000366609.3	-	2	1619_1621	c.1589_1591delGCT	c.(1588-1593)tgcttc>ttc	p.C530del	IRF2BP2_ENST00000366610.3_In_Frame_Del_p.C514del|IRF2BP2_ENST00000491430.1_5'UTR|RP4-781K5.2_ENST00000436039.1_RNA	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	530	Cys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GAGCAAGGGAAGCAGAACTTGTG	0.586																																					p.530_531del		.											.	IRF2BP2-90	0			c.1589_1591del						.																																			SO:0001651	inframe_deletion	359948	exon2			.	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1589_1591delGCT	1.37:g.234743056_234743058delAGC	ENSP00000355568:p.Cys530del	Somatic	217	0		WXS	Illumina HiSeq	Phase_I	313	74	NM_182972	0	0	0	0	0	B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	In_Frame_Del	DEL	ENST00000366609.3	37	CCDS1602.1																																																																																			.		0.586	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972	
MYO1H	283446	hgsc.bcm.edu;broad.mit.edu	37	12	109834319	109834319	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr12:109834319delA	ENST00000431443.2	+	3	373	c.373delA	c.(373-375)accfs	p.T125fs	MYO1H_ENST00000310903.5_Frame_Shift_Del_p.T125fs	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	125	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TTTTGCAGTGACCTGCCCAAT	0.498																																					p.T125fs		.											.	.	0			c.373delA						.						71.0	71.0	71.0					12																	109834319		1896	4123	6019	SO:0001589	frameshift_variant	283446	exon3			.		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.373delA	12.37:g.109834319delA	ENSP00000444076:p.Thr125fs	Somatic	100	0		WXS	Illumina HiSeq	Phase_I	135	21	NM_001101421	0	0	0	0	0	F5H3C6	Frame_Shift_Del	DEL	ENST00000431443.2	37																																																																																				.		0.498	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597	
FAM179B	23116	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	14	45433529	45433529	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr14:45433529delC	ENST00000361577.3	+	1	2119	c.1905delC	c.(1903-1905)cacfs	p.H635fs	KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361462.2_Frame_Shift_Del_p.H635fs|KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000382233.2_Frame_Shift_Del_p.H635fs	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	635										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ATAGCATGCACATTTATGGAT	0.453																																					p.H635fs		.											.	FAM179B-93	0			c.1905delC						.						98.0	86.0	90.0					14																	45433529		2203	4300	6503	SO:0001589	frameshift_variant	23116	exon1			.	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.1905delC	14.37:g.45433529delC	ENSP00000355045:p.His635fs	Somatic	114	0		WXS	Illumina HiSeq	Phase_I	59	19	NM_015091	0	0	0	0	0	Q68D66|Q6PG27	Frame_Shift_Del	DEL	ENST00000361577.3	37	CCDS9681.1																																																																																			.		0.453	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781	
ISLR2	57611	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	15	74425252	74425252	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr15:74425252delG	ENST00000361742.3	+	4	926	c.157delG	c.(157-159)gtgfs	p.V53fs	ISLR2_ENST00000565540.1_Frame_Shift_Del_p.V53fs|ISLR2_ENST00000445793.1_Frame_Shift_Del_p.V53fs|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Frame_Shift_Del_p.V53fs|ISLR2_ENST00000453268.2_Frame_Shift_Del_p.V53fs|ISLR2_ENST00000419208.1_Frame_Shift_Del_p.V53fs|ISLR2_ENST00000435464.1_Frame_Shift_Del_p.V53fs	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	53					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GCCTGCCAACGTGACGACGCT	0.632																																					p.V53X		.											.	ISLR2-90	0			c.157delG						.						82.0	68.0	73.0					15																	74425252		2198	4297	6495	SO:0001589	frameshift_variant	57611	exon4			.		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.157delG	15.37:g.74425252delG	ENSP00000355402:p.Val53fs	Somatic	171	0		WXS	Illumina HiSeq	Phase_I	234	76	NM_001130138	0	0	0	0	0	A8K352|Q9P263	Nonsense_Mutation	DEL	ENST00000361742.3	37	CCDS10259.1																																																																																			.		0.632	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851	
LINS	55180	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	15	101114034	101114034	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr15:101114034delC	ENST00000314742.8	-	5	1266	c.1044delG	c.(1042-1044)gggfs	p.G348fs	LINS_ENST00000561308.1_Frame_Shift_Del_p.G348fs|LINS_ENST00000560133.1_Frame_Shift_Del_p.G229fs|LINS_ENST00000559149.1_5'UTR	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	348										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TCTTCAACAACCCCGAATTCA	0.448																																					p.G348fs		.											.	LINS-92	0			c.1044delG						.			0,4264		0,0,2132	146.0	133.0	137.0			2.5	0.1	15		137	2,8252		0,2,4125	no	frameshift	LINS	NM_001040616.2		0,2,6257	A1A1,A1R,RR		0.0242,0.0,0.016			101114034	2,12516	2203	4300	6503	SO:0001589	frameshift_variant	55180	exon5			.	AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.1044delG	15.37:g.101114034delC	ENSP00000318423:p.Gly348fs	Somatic	281	0		WXS	Illumina HiSeq	Phase_I	213	57	NM_001040616	0	0	0	0	0	Q96FW2|Q9NVQ3	Frame_Shift_Del	DEL	ENST00000314742.8	37	CCDS10385.1																																																																																			.		0.448	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148	
PCDHGA12	26025	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	140811171	140811177	+	Frame_Shift_Del	DEL	GGTATGT	GGTATGT	-			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	GGTATGT	GGTATGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr5:140811171_140811177delGGTATGT	ENST00000252085.3	+	1	987_993	c.845_851delGGTATGT	c.(844-852)cggtatgtgfs	p.RYV282fs	PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	282	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATTCCTTCCGGTATGTGGACGACAAG	0.522																																					p.282_284del		.											.	PCDHGA12-27	0			c.845_851del						.																																			SO:0001589	frameshift_variant	26025	exon1			.	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.845_851delGGTATGT	5.37:g.140811171_140811177delGGTATGT	ENSP00000252085:p.Arg282fs	Somatic	177	0		WXS	Illumina HiSeq	Phase_I	254	63	NM_032094	0	0	0	0	0	O15100|Q6UW70|Q9Y5D7	Frame_Shift_Del	DEL	ENST00000252085.3	37	CCDS4260.1																																																																																			.		0.522	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735	
TNC	3371	broad.mit.edu;bcgsc.ca	37	9	117792668	117792668	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr9:117792668delG	ENST00000350763.4	-	24	6348	c.5937delC	c.(5935-5937)cccfs	p.P1979fs	TNC_ENST00000535648.1_Frame_Shift_Del_p.P1524fs|TNC_ENST00000341037.4_Frame_Shift_Del_p.P1797fs|TNC_ENST00000542877.1_Frame_Shift_Del_p.P1616fs|TNC_ENST00000345230.3_Frame_Shift_Del_p.P1342fs|TNC_ENST00000423613.2_Frame_Shift_Del_p.P1706fs|TNC_ENST00000340094.3_Frame_Shift_Del_p.P1615fs|TNC_ENST00000346706.3_Frame_Shift_Del_p.P1433fs|TNC_ENST00000537320.1_Frame_Shift_Del_p.P1342fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1979	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCTTGGGGAAGGGGTACAGGA	0.498																																					p.P1979fs													.	TNC-517	0			c.5937delC						.						93.0	77.0	83.0					9																	117792668		2203	4300	6503	SO:0001589	frameshift_variant	3371	exon24			GGGGAAGGGGTAC		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5937delC	9.37:g.117792668delG	ENSP00000265131:p.Pro1979fs	Somatic	112	0		WXS	Illumina HiSeq	Phase_I	29	14	NM_002160	0	0	0	0	0	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Frame_Shift_Del	DEL	ENST00000350763.4	37	CCDS6811.1																																																																																			.		0.498	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160	
ZCCHC8	55596	hgsc.bcm.edu;broad.mit.edu	37	12	122964832	122964833	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr12:122964832_122964833insA	ENST00000336229.4	-	11	1174_1175	c.1044_1045insT	c.(1042-1047)gttggafs	p.G349fs	ZCCHC8_ENST00000536306.1_Frame_Shift_Ins_p.G111fs|ZCCHC8_ENST00000538116.1_5'Flank|ZCCHC8_ENST00000543897.1_Frame_Shift_Ins_p.G111fs	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	349					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TGTATTTCTCCAACTTCTGTTT	0.371																																					p.G349fs		.											.	ZCCHC8-90	0			c.1045_1046insT						.																																			SO:0001589	frameshift_variant	55596	exon11			.	BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.1045dupT	12.37:g.122964834_122964834dupA	ENSP00000337313:p.Gly349fs	Somatic	44	0		WXS	Illumina HiSeq	Phase_I	59	26	NM_017612	0	0	0	0	0	Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Frame_Shift_Ins	INS	ENST00000336229.4	37																																																																																				.		0.371	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612	
ITM2B	9445	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	13	48830432	48830433	+	In_Frame_Ins	INS	-	-	CAA			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr13:48830432_48830433insCAA	ENST00000378565.5	+	3	569_570	c.366_367insCAA	c.(367-369)gaa>CAAgaa	p.122_123insQ	ITM2B_ENST00000378549.5_Intron	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	122	Necessary for interaction with APP and inhibitor effects on APP processing.				extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|nervous system development (GO:0007399)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle membrane (GO:0030660)|integral component of organelle membrane (GO:0031301)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|beta-amyloid binding (GO:0001540)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		TTAAAATCTTTGAAGAAGAAGA	0.401																																					p.F122delinsFQ		.											.	ITM2B-90	0			c.366_367insCAA						.																																			SO:0001652	inframe_insertion	9445	exon3			.	AF092128	CCDS9409.1	13q14.2	2012-10-10			ENSG00000136156	ENSG00000136156		"""BRICHOS domain containing"""	6174	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2B"""	603904				9795190	Standard	NM_021999		Approved	BRI, E25B, E3-16, BRICD2B	uc001vbz.3	Q9Y287	OTTHUMG00000016894	Exception_encountered	13.37:g.48830432_48830433insCAA	ENSP00000367828:p.Phe122_Glu123insGln	Somatic	161	0		WXS	Illumina HiSeq	Phase_I	82	26	NM_021999	0	0	0	0	0	Q5W0A3|Q96B24|Q9NYH1	In_Frame_Ins	INS	ENST00000378565.5	37	CCDS9409.1																																																																																			.		0.401	ITM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044870.3	NM_021999	
LCLAT1	253558	bcgsc.ca	37	2	30756180	30756181	+	Splice_Site	INS	-	-	GTAGGTTATTCACACATT			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr2:30756180_30756181insGTAGGTTATTCACACATT	ENST00000309052.4	+	4	687	c.478_478insGTAGGTTATTCACACATT	c.(478-480)ggt>GTAGGTTATTCACACATTggt	p.159_160insVGYSHI	LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000359433.1_Splice_Site_p.159_160insVGYSHI|LCLAT1_ENST00000379509.3_Splice_Site_p.121_122insVGYSHI|LCLAT1_ENST00000540623.1_Splice_Site_p.121_122insVGYSHI|LCLAT1_ENST00000319406.4_Splice_Site_p.159_160insVGYSHI	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	159					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						TCCTGGATTTGGTAGGTTATTC	0.381																																					p.G160delinsGRLFTHC													.	LCLAT1-92	0			c.478_479insGTAGGTTATTCACACATT						.																																			SO:0001630	splice_region_variant	253558	exon4			GGATTTGGTAGGT	AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"""lysocardiolipin acyltransferase"""	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.478+1->GTAGGTTATTCACACATT	2.37:g.30756180_30756181insGTAGGTTATTCACACATT		Somatic	434	0		WXS	Illumina HiSeq	Phase_1	223	10	NM_182551	0	0	0	0	0	A6H8Z7|Q8N1Q7	In_Frame_Ins	INS	ENST00000309052.4	37	CCDS1772.1																																																																																			.		0.381	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216780.1	NM_182551	In_Frame_Ins
BCHE	590	bcgsc.ca	37	3	165504036	165504037	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr3:165504036_165504037insG	ENST00000264381.3	-	3	1746_1747	c.1580_1581insC	c.(1579-1581)aaafs	p.K527fs	BCHE_ENST00000540653.1_5'UTR	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	527					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)	p.K527R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	AGGTTAGATATTTTTGTTCAGT	0.332																																					p.K527fs													.	BCHE-94	1	Substitution - Missense(1)	lung(1)	c.1581_1582insC						.																																			SO:0001589	frameshift_variant	590	exon3			TAGATATTTTTGT	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1580_1581insC	3.37:g.165504036_165504037insG	ENSP00000264381:p.Lys527fs	Somatic	157	0		WXS	Illumina HiSeq	Phase_1	21	3	NM_000055	0	0	0	0	0	A8K7P8	Frame_Shift_Ins	INS	ENST00000264381.3	37	CCDS3198.1																																																																																			.		0.332	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1		
SH3BP2	6452	hgsc.bcm.edu;bcgsc.ca	37	4	2831767	2831768	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr4:2831767_2831768insC	ENST00000356331.5	+	8	1395_1396	c.1134_1135insC	c.(1135-1137)cccfs	p.P379fs	SH3BP2_ENST00000503393.2_Frame_Shift_Ins_p.P436fs|SH3BP2_ENST00000511747.1_Frame_Shift_Ins_p.P379fs|SH3BP2_ENST00000442312.2_Frame_Shift_Ins_p.P407fs|SH3BP2_ENST00000452765.2_Frame_Shift_Ins_p.P379fs|SH3BP2_ENST00000435136.2_Frame_Shift_Ins_p.P379fs	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	379					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)		SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		GACTCTTTGTGCCCCCCGTGGC	0.678									Cherubism																												p.V435fs		.											.	SH3BP2-514	0			c.1305_1306insC						.																																			SO:0001589	frameshift_variant	6452	exon8	Familial Cancer Database	Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease	.	BC022996	CCDS33944.1, CCDS54715.1, CCDS54716.1	4p16.3	2013-02-14				ENSG00000087266		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	10825	protein-coding gene	gene with protein product		602104	"""Cherubism"""			9299232, 11381256	Standard	NM_003023		Approved	RES4-23, CRBM	uc003gfj.4	P78314		ENST00000356331.5:c.1140dupC	4.37:g.2831773_2831773dupC	ENSP00000348685:p.Pro379fs	Somatic	94	0		WXS	Illumina HiSeq	Phase_I	187	30	NM_001145856	0	0	0	0	0	A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Frame_Shift_Ins	INS	ENST00000356331.5	37	CCDS33944.1																																																																																			.		0.678	SH3BP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362406.2	NM_003023	
MRPL49	740	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	64889268	64889269	+	5'Flank	DNP	GC	GC	TG			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr11:64889268_64889269GC>TG	ENST00000279242.2	+	0	0				FAU_ENST00000529639.1_Missense_Mutation_p.R6P|FAU_ENST00000531743.1_Missense_Mutation_p.R6P|FAU_ENST00000525297.1_Missense_Mutation_p.R6P|MRPL49_ENST00000526171.1_5'Flank|MRPL49_ENST00000531705.1_5'Flank|FAU_ENST00000279259.3_Missense_Mutation_p.R6P|FAU_ENST00000434372.2_Missense_Mutation_p.R6P|MRPL49_ENST00000534078.1_5'Flank|FAU_ENST00000527548.1_Missense_Mutation_p.R6P|FAU_ENST00000529259.1_Missense_Mutation_p.R6P	NM_004927.3	NP_004918.1	Q13405	RM49_HUMAN	mitochondrial ribosomal protein L49						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			endometrium(1)|ovary(1)	2						GCTCCTGGGCGCGGACAAAGAG	0.535																																					p.R6P		.											.	FAU	0			c.G17C						.																																			SO:0001631	upstream_gene_variant	2197	exon2			TGGGCGCGGACAA		CCDS8096.1	11q13.1	2012-11-14	2001-10-16	2001-10-19	ENSG00000149792	ENSG00000149792		"""Mitochondrial ribosomal proteins / large subunits"""	1176	protein-coding gene	gene with protein product	"""neighbor of FAU"", ""next to FAU"""	606866	"""chromosome 11 open reading frame 4"""	C11orf4		8786148	Standard	NM_004927		Approved	NOF, NOF1, L49mt	uc001oda.2	Q13405	OTTHUMG00000165608	Exception_encountered	11.37:g.64889268_64889269delinsTG	Exception_encountered	Somatic	112.0	1.0		WXS	Illumina HiSeq	Phase_I	153.0	37.0		0	0	0	0	0	B2R4G6	Missense_Mutation	DNP	ENST00000279242.2	37	CCDS8096.1																																																																																			.		0.535	MRPL49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385293.1	NM_004927	
OAF	220323	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	120097580	120097581	+	Missense_Mutation	DNP	AC	AC	CA			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	AC	AC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr11:120097580_120097581AC>CA	ENST00000328965.4	+	3	935_936	c.422_423AC>CA	c.(421-423)cAC>cCA	p.H141P	OAF_ENST00000531220.1_Missense_Mutation_p.H25P	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	141						extracellular vesicular exosome (GO:0070062)				kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		GAGCATCTGCACATGGATGTCG	0.619																																					p.H141P		.											.	OAF	0			c.C423A						.																																			SO:0001583	missense	220323	exon3			TCTGCACATGGAT	BC047726	CCDS8430.1	11q23.3	2010-11-23			ENSG00000184232	ENSG00000184232			28752	protein-coding gene	gene with protein product						12477932	Standard	NM_178507		Approved	MGC52117	uc001pxb.3	Q86UD1	OTTHUMG00000166139	Exception_encountered	11.37:g.120097580_120097581delinsCA	ENSP00000332613:p.His141Pro	Somatic	139.0	0.0		WXS	Illumina HiSeq	Phase_I	183.0	57.0		0	0	0	0	0		Missense_Mutation	DNP	ENST00000328965.4	37	CCDS8430.1																																																																																			.		0.619	OAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388036.2	NM_178507	
KCTD8	386617	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	44449784	44449785	+	Missense_Mutation	DNP	TG	TG	GA			TCGA-B9-4114-01A-01D-1252-08	TCGA-B9-4114-10A-01D-1252-08	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	cc2df365-fa55-4871-8e93-807b85a7e7d0	4acde02c-30d6-41f7-9fb2-b689951809b9	g.chr4:44449784_44449785TG>GA	ENST00000360029.3	-	1	1039_1040	c.756_757CA>TC	c.(754-759)ctCAac>ctTCac	p.N253H	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	253					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CGGCTCTCGTTGAGCGTGTCCC	0.658										HNSCC(17;0.042)																											p.N253H		.											.	KCTD8	0			c.C756T						.																																			SO:0001583	missense	386617	exon1			CTCGTTGAGCGTG	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.756_757delinsGA	4.37:g.44449784_44449785delinsGA	ENSP00000353129:p.Asn253His	Somatic	59.0	0.0		WXS	Illumina HiSeq	Phase_I	126.0	51.0		0	0	0	0	0	A2RU39	Missense_Mutation	DNP	ENST00000360029.3	37	CCDS3467.1																																																																																			.		0.658	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1		
